Doc Id	PMID		Sentence	Start Point	End Point	Length	Text	Notes	UMLS Code	UMLS Concept Name	Possible Alternative Codes		
1	10051005	9	We calculated age related risks of all, colorectal, endometrial, and ovarian cancers in nt943+3 A--T MSH2 mutation carriers (n=76) for all patients and for men and women separately.	41	84	44	colorectal, endometrial, and ovarian cancers	intuitive: list is present. search for "colorectal cancers" yields 2 out of 3 UMLS codes, does not yield C0346629.	T0000016 - C0346629,C0009402,C1527249	Malignant neoplasm of large intestine- Group name			
1	10051005	9	We calculated age related risks of all, colorectal, endometrial, and ovarian cancers in nt943+3 A--T MSH2 mutation carriers (n=76) for all patients and for men and women separately.	53	84	32	endometrial, and ovarian cancers	intuitive: list is present. search for "endometrial cancer" yields UMLS code for Endometrial Carcinoma, but not malignant endometrial neoplasm.	T0000012 -C0476089,C0007103	Endometrial Carcinoma - Malignant Endometrial Neoplasm			
1	10051005	9	We calculated age related risks of all, colorectal, endometrial, and ovarian cancers in nt943+3 A--T MSH2 mutation carriers (n=76) for all patients and for men and women separately.	70	84	15	ovarian cancers	textual - "ovarian cancer" yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
2	10051007	1	Age of onset (AO) of Huntington disease (HD) is known to be correlated with the length of an expanded CAG repeat in the HD gene.	42	43	2	HD	textual - yields correct UMLS code, however, also yield 4 others	C0020179	Huntington Disease			
2	10051007	1	Age of onset (AO) of Huntington disease (HD) is known to be correlated with the length of an expanded CAG repeat in the HD gene.	22	39	18	Huntington disease	textual - yields correct UMLS code, however, also yields code for "HD gene	C0020179	Huntington Disease			
3	100562	7	HLA histocompatibility typing of the family members did not demonstrate evidence for genetic linkage of C7 deficiency with the major histocompatibility loci.	105	117	13	C7 deficiency	Textual. No annotation provided. However, search for "C7 deficiency" yields UMLS code C1864694.		COMPLEMENT COMPONENT 7 DEFICIENCY	C1864694		
4	100562	8	This report represents the first cases of C7 deficiency associated with infectious complications and suggests that bactericidal activity may be important in host defense against bacteremic neisseria infections..	43	55	13	C7 deficiency	Textual. No annotation provided for given text. However, search for "C7 deficiency" yields UMLS code C1864694.		COMPLEMENT COMPONENT 7 DEFICIENCY	C1864694		
4	100562	8	This report represents the first cases of C7 deficiency associated with infectious complications and suggests that bactericidal activity may be important in host defense against bacteremic neisseria infections..	73	96	24	infectious complications	textual	C0940933	Complication, infection			
4	100562	8	This report represents the first cases of C7 deficiency associated with infectious complications and suggests that bactericidal activity may be important in host defense against bacteremic neisseria infections..	190	209	20	neisseria infections	textual	C0851883	Neisseria infection			
5	10064668	1	OBJECTIVE: Previous reports have suggested an increased risk of cancer among patients with cartilage-hair hypoplasia CHH.	118	120	3	CHH	textual. Search yields given annotated code, also provides 1 other UMLS code however.	C0220748	Metaphyseal chondrodysplasia			
5	10064668	1	OBJECTIVE: Previous reports have suggested an increased risk of cancer among patients with cartilage-hair hypoplasia CHH.	65	70	6	cancer	textual.  Search yields given annotated code, also yields 3 other UMLS codes however.	C0006826	Malignant Neoplasms			
5	10064668	1	OBJECTIVE: Previous reports have suggested an increased risk of cancer among patients with cartilage-hair hypoplasia CHH.	92	116	25	cartilage-hair hypoplasia	textual	C0220748	Metaphyseal chondrodysplasia			
6	10072428	2	Familial gastric cancer is genetically heterogeneous and it is not clear what proportion of gastric cancer susceptibility in non-Maori populations is due to germline CDH1 mutations.	1	23	23	Familial gastric cancer	intuitive: code can be found by searching "familial cancer".	C1333600	Hereditary Malignant Neoplasm			
6	10072428	2	Familial gastric cancer is genetically heterogeneous and it is not clear what proportion of gastric cancer susceptibility in non-Maori populations is due to germline CDH1 mutations.	10	23	14	gastric cancer	textual	T0000013 -C0024623,C0699791	Malignant neoplasm of stomach - Stomach Carcinoma			
7	10072428	3	Therefore, we screened eight familial gastric cancer kindreds of British and Irish origin for germline CDH1 mutations, by SSCP analysis of all 16 exons and flanking sequences.	30	52	23	familial gastric cancer	intuitive: code can be found by searching for "familial cancer	C1333600	Hereditary Malignant Neoplasm			
7	10072428	3	Therefore, we screened eight familial gastric cancer kindreds of British and Irish origin for germline CDH1 mutations, by SSCP analysis of all 16 exons and flanking sequences.	39	52	14	gastric cancer	textual	T0000013 -C0024623,C0699791	Malignant neoplasm of stomach - Stomach Carcinoma			
8	10072428	8	We have confirmed that germline mutations in the CDH1 gene cause familial gastric cancer in non-Maori populations.	66	88	23	familial gastric cancer	intuitive: code can be found by searching for "familial cancer	C1333600	Hereditary Malignant Neoplasm			
8	10072428	8	We have confirmed that germline mutations in the CDH1 gene cause familial gastric cancer in non-Maori populations.	75	88	14	gastric cancer	textual	T0000013 -C0024623,C0699791	Malignant neoplasm of stomach - Stomach Carcinoma			
9	10072428	9	However, only a minority of familial gastric cancers can be accounted for by CDH1 mutations.	29	52	24	familial gastric cancers	intuitive: code can be found by searching for "familial cancer	C0699791	Hereditary Malignant Neoplasm			
9	10072428	9	However, only a minority of familial gastric cancers can be accounted for by CDH1 mutations.	38	52	15	gastric cancers	textual	T0000013 -C0024623,C0699791	Malignant neoplasm of stomach - Stomach Carcinoma			
10	10077614	2	The analysis of diseases linked specifically with WT1 mutations, such as Denys-Drash syndrome (DDS), can provide valuable insight concerning the role of WT1 in development and disease.	96	98	3	DDS	textual, although DDS does not correspond to the correct UMLS code	C0950121	Denys-Drash Syndrome			
10	10077614	2	The analysis of diseases linked specifically with WT1 mutations, such as Denys-Drash syndrome (DDS), can provide valuable insight concerning the role of WT1 in development and disease.	74	93	20	Denys-Drash syndrome	textual	C0950121	Denys-Drash Syndrome			
11	10078749	3	These findings demonstrate that GCH1 mutations must be considered even in patients with dystonic symptoms not typical of dopa-responsive dystonia..	122	145	24	dopa-responsive dystonia	textual - more specific than what was annotated, yields UMLS code C1851920- DYSTONIA, DOPA-RESPONSIVE	C0393593	Dystonic Disorder	C1851920- DYSTONIA, DOPA-RESPONSIVE		
12	10083734	2	Genetic analyses of Japanese C9 deficiency have shown that a C-to-T transition leading to TGA stop codon for Arg95 in exon 4 of the C9 gene (Arg95Stop) is common in Japanese C9 deficiency.	30	42	13	C9 deficiency	Textual. No annotation provided for given text. However, search for "C9 deficiency" yields UMLS code C1852676 .		C9 DEFICIENCY	C1852676		
12	10083734	2	Genetic analyses of Japanese C9 deficiency have shown that a C-to-T transition leading to TGA stop codon for Arg95 in exon 4 of the C9 gene (Arg95Stop) is common in Japanese C9 deficiency.	175	187	13	C9 deficiency	Textual. No annotation provided for given text. However, search for "C9 deficiency" yields UMLS code C1852676 .		C9 DEFICIENCY	C1852676		
13	10083734	8	An estimated frequency (0.12%) of complete C9 deficiency due to homozygous Arg95Stop mutation was consistent with frequencies determined by serological studies..	44	56	13	C9 deficiency	Textual. No annotation provided for given text. However, search for "C9 deficiency" yields UMLS code C1852676 .		C9 DEFICIENCY	C1852676		
14	10085150	1	HFE is the protein product of the gene mutated in the autosomal recessive disease hereditary hemochromatosis Feder, J. N., Gnirke, A., Thomas, W., Tsuchihashi, Z., Ruddy, D. A., Basava, A., Dormishian, F., Domingo, R. J., Ellis, M. C., Fullan, A., Hinton, L. M., Jones, N. L., Kimmel, B. E., Kronmal, G. S., Lauer, P., Lee, V. K., Loeb, D. B., Mapa, F. A., McClelland, E., Meyer, N. C., Mintier, G. A., Moeller, N., Moore, T., Morikang, E., Prasss, C. E., Quintana, L., Starnes, S. M., Schatzman, R. C., Brunke, K. J., Drayna, D. T., Risch, N. J., Bacon, B. R., and Wolff, R. R. (1996) Nat.	55	81	27	autosomal recessive disease	Textual. This text is what annotation is based on. However it won't yield the annotated code, the code can only be found by querying "autosomal recessive hereditary disorder	C0265388	Autosomal recessive hereditary disorder			
14	10085150	1	HFE is the protein product of the gene mutated in the autosomal recessive disease hereditary hemochromatosis Feder, J. N., Gnirke, A., Thomas, W., Tsuchihashi, Z., Ruddy, D. A., Basava, A., Dormishian, F., Domingo, R. J., Ellis, M. C., Fullan, A., Hinton, L. M., Jones, N. L., Kimmel, B. E., Kronmal, G. S., Lauer, P., Lee, V. K., Loeb, D. B., Mapa, F. A., McClelland, E., Meyer, N. C., Mintier, G. A., Moeller, N., Moore, T., Morikang, E., Prasss, C. E., Quintana, L., Starnes, S. M., Schatzman, R. C., Brunke, K. J., Drayna, D. T., Risch, N. J., Bacon, B. R., and Wolff, R. R. (1996) Nat.	83	108	26	hereditary hemochromatosis	textual - also yields UMLS code for "HFE gene	C0392514	Hereditary hemochromatosis			
15	10094552	1	We have retrospectively analyzed 837 random anonymized dried blood spot (DBS) samples from neonatal screening programs in Scandinavia for mutations in HFE, the candidate gene for hemochromatosis.	180	194	15	hemochromatosis	textual - also yields UMLS code for "HFE gene	C0018995	Hemochromatosis			
16	10190331	3	In the present study, seven mutations in the PDS gene (PDS), the gene responsible for Pendred syndrome, have been found in families of non-syndromic sensorineural hearing loss with EVA.	182	184	3	EVA	intuitive: The abstract defined "EVA" as "enlarged vestibular aqueduct" a query of "enlarged vestibular aqueduct" yields annotated code		ENLARGED VESTIBULAR AQUEDUCT SYNDROME	C1863752		
16	10190331	3	In the present study, seven mutations in the PDS gene (PDS), the gene responsible for Pendred syndrome, have been found in families of non-syndromic sensorineural hearing loss with EVA.	87	102	16	Pendred syndrome	textual	C0271829	Pendred syndrome			
16	10190331	3	In the present study, seven mutations in the PDS gene (PDS), the gene responsible for Pendred syndrome, have been found in families of non-syndromic sensorineural hearing loss with EVA.	150	175	26	sensorineural hearing loss	textual	C0018784	Sensorineural Hearing Loss			
17	10190819	7	METHODS: The 29 patients comprised 13 patients with childhood cerebral ALD, 11 patients with adult-onset cerebral ALD, and 5 patients with adrenomyeloneuropathy.	72	74	3	ALD	intuitive: Abstract defines "ALD" as "Adrenoleukodystrophy" search for "ALD" yields 1 of the 2 UMLS codes. It also provides 1 other.	T0000003 - C0162309,C0282525	Adrenoleukodystrophy - Adrenoleukodystrophy, Neonatal			
17	10190819	7	METHODS: The 29 patients comprised 13 patients with childhood cerebral ALD, 11 patients with adult-onset cerebral ALD, and 5 patients with adrenomyeloneuropathy.	115	117	3	ALD	intuitive: Abstract defines "ALD" as "Adrenoleukodystrophy" search for "ALD" yields 1 of the 2 UMLS codes. It also provides 1 other.	T0000003 - C0162309,C0282525	Adrenoleukodystrophy - Adrenoleukodystrophy, Neonatal			
17	10190819	7	METHODS: The 29 patients comprised 13 patients with childhood cerebral ALD, 11 patients with adult-onset cerebral ALD, and 5 patients with adrenomyeloneuropathy.	140	160	21	adrenomyeloneuropathy	textual	C1527231	Adrenomyeloneuropathy			
18	10192399	4	Pendrin is closely related to a family of sulfate transport proteins that includes the rat sulfate-anion transporter (encoded by Sat-1; 29% amino acid sequence identity), the human diastrophic dysplasia sulfate transporter (encoded by DTD; 32%) and the human sulfate transporter 'downregulated in adenoma' encoded by DRA; 45%.	182	202	21	diastrophic dysplasia	textual	C0220726	Diastrophic dysplasia			
18	10192399	4	Pendrin is closely related to a family of sulfate transport proteins that includes the rat sulfate-anion transporter (encoded by Sat-1; 29% amino acid sequence identity), the human diastrophic dysplasia sulfate transporter (encoded by DTD; 32%) and the human sulfate transporter 'downregulated in adenoma' encoded by DRA; 45%.	298	304	7	adenoma	textual	C0001430	adenoma			
19	10196379	2	To achieve this, we determined the prevalence of BRCA1 alterations in a population-based series of consecutive ovarian cancer cases.	112	125	14	ovarian cancer	textual - "ovarian cancer" yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
20	10196379	3	This is the first population-based ovarian cancer study reporting BRCA1 alterations derived from a comprehensive screen of the entire coding region.	36	49	14	ovarian cancer	textual - "ovarian cancer" yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
21	10196379	4	One hundred and seven ovarian cancer cases were analyzed for BRCA1 alterations using the RNase mismatch cleavage assay followed by direct sequencing.	23	36	14	ovarian cancer	textual - "ovarian cancer" yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
22	10198641	1	Germline mutations of the Brca1 tumor suppressor gene predispose women to breast and ovarian cancers.	75	100	26	breast and ovarian cancers	intuitive: list is present, a search for "breast cancer" yields 2 of the 4 UMLS codes (C0678222 and C0006142). C0007104 (Female breast caricinoma) must be found intuitively since the text mentions women. I don't know why C0238033 was included as it is the code for Carcinoma of Male Breast.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
22	10198641	1	Germline mutations of the Brca1 tumor suppressor gene predispose women to breast and ovarian cancers.	86	100	15	ovarian cancers	textual - "ovarian cancer" yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
23	10200300	1	Heterozygous mutations in the CD95 (APO-1/Fas) receptor occur in most individuals with autoimmune lymphoproliferative syndrome (ALPS) and dominantly interfere with apoptosis by an unknown mechanism.	129	132	4	ALPS	textual - yields correct UMLS code, however, also yields 13 others	C1328840	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME			
23	10200300	1	Heterozygous mutations in the CD95 (APO-1/Fas) receptor occur in most individuals with autoimmune lymphoproliferative syndrome (ALPS) and dominantly interfere with apoptosis by an unknown mechanism.	88	126	39	autoimmune lymphoproliferative syndrome	textual	C1328840	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME			
24	10208848	1	Fabry disease (FD) (angiokeratoma corporis diffusum) is an X-linked inborn error of glycosphingolipid metabolism caused by defects in the lysosomal alpha-galactosidase A gene GLA.	16	17	2	FD	textual, although FD does not correspond to Fabry Disease in the UMLS	C0002986	Fabry Disease			
24	10208848	1	Fabry disease (FD) (angiokeratoma corporis diffusum) is an X-linked inborn error of glycosphingolipid metabolism caused by defects in the lysosomal alpha-galactosidase A gene GLA.	1	13	13	Fabry disease	textual	C0002986	Fabry Disease			
24	10208848	1	Fabry disease (FD) (angiokeratoma corporis diffusum) is an X-linked inborn error of glycosphingolipid metabolism caused by defects in the lysosomal alpha-galactosidase A gene GLA.	21	51	31	angiokeratoma corporis diffusum	textual	C0002986	Fabry Disease			
24	10208848	1	Fabry disease (FD) (angiokeratoma corporis diffusum) is an X-linked inborn error of glycosphingolipid metabolism caused by defects in the lysosomal alpha-galactosidase A gene GLA.	69	112	44	inborn error of glycosphingolipid metabolism	intuitive: code can be found by searching "inborn error of metabolism	C0025521	Inborn Errors of Metabolism			
25	10220405	1	Germ-line mutations in the BRCA1 tumor-suppressor gene are associated with an increased susceptibility to breast and ovarian cancer.	107	131	25	breast and ovarian cancer	intuitive: list is present, a search for "breast cancer" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
25	10220405	1	Germ-line mutations in the BRCA1 tumor-suppressor gene are associated with an increased susceptibility to breast and ovarian cancer.	118	131	14	ovarian cancer	textual - "ovarian cancer" yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
26	102474	2	No clinical disease was associated with this deficiency which was transmitted through the subject's family as a single genetic characteristic, the C6 deficiency being associated with a silent allele at the structural locus.	148	160	13	C6 deficiency	textual - however, yields UMLS code for C6 gene	C0398767	Complement 6 deficiency			
27	10330348	1	Mutations resulting in defective splicing constitute a significant proportion 30/62 48% of a new series of mutations in the ATM gene in patients with ataxia-telangiectasia (AT) that were detected by the protein-truncation assay followed by sequence analysis of genomic DNA.	174	175	2	AT	textual - yields correct code but also 7 other UMLS codes	C0004135	Ataxia Telangiectasia			
27	10330348	1	Mutations resulting in defective splicing constitute a significant proportion 30/62 48% of a new series of mutations in the ATM gene in patients with ataxia-telangiectasia (AT) that were detected by the protein-truncation assay followed by sequence analysis of genomic DNA.	151	171	21	ataxia-telangiectasia	textual	C0004135	Ataxia Telangiectasia			
28	10353787	1	Aspartylglucosaminuria (AGU) is a lysosomal storage disorder caused by deficiency of aspartylglucosaminidase AGA.	25	27	3	AGU	textual - does not provide code for Aspartylglucosaminuria, yields code for "AGA gene	C0268225	Aspartylglucosaminuria			
28	10353787	1	Aspartylglucosaminuria (AGU) is a lysosomal storage disorder caused by deficiency of aspartylglucosaminidase AGA.	1	22	22	Aspartylglucosaminuria	textual - provides correct code for Aspartylglucosaminuria, also provides code for "AGA gene	C0268225	Aspartylglucosaminuria			
28	10353787	1	Aspartylglucosaminuria (AGU) is a lysosomal storage disorder caused by deficiency of aspartylglucosaminidase AGA.	35	60	26	lysosomal storage disorder	textual	C0085078	Lysosomal Storage Diseases			
28	10353787	1	Aspartylglucosaminuria (AGU) is a lysosomal storage disorder caused by deficiency of aspartylglucosaminidase AGA.	72	108	37	deficiency of aspartylglucosaminidase	textual - provides correct code for Aspartylglucosaminuria, also provides code for "AGA gene	C0268225	Aspartylglucosaminuria			
29	10369870	3	Mutations in the human EGR2 gene have recently been associated with the inherited peripheral neuropathies Charcot-Marie-Tooth type 1, Dejerine-Sottas syndrome and congenital hypomyelinating neuropathy.	73	105	33	inherited peripheral neuropathies	intuitive: search for "inherited neuropathies" yields code	C0598589	Inherited neuropathies	Peripheral Neuropathy C0031117		
29	10369870	3	Mutations in the human EGR2 gene have recently been associated with the inherited peripheral neuropathies Charcot-Marie-Tooth type 1, Dejerine-Sottas syndrome and congenital hypomyelinating neuropathy.	107	132	26	Charcot-Marie-Tooth type 1	textual	C0007959	Charcot-Marie-Tooth Disease			
29	10369870	3	Mutations in the human EGR2 gene have recently been associated with the inherited peripheral neuropathies Charcot-Marie-Tooth type 1, Dejerine-Sottas syndrome and congenital hypomyelinating neuropathy.	135	158	24	Dejerine-Sottas syndrome	textual	C0011195	HMSN Type III			
29	10369870	3	Mutations in the human EGR2 gene have recently been associated with the inherited peripheral neuropathies Charcot-Marie-Tooth type 1, Dejerine-Sottas syndrome and congenital hypomyelinating neuropathy.	164	200	37	congenital hypomyelinating neuropathy	textual	C0393818	Congenital hypomyelinating neuropathy			
30	10369876	1	Familial neurohypophyseal diabetes insipidus is an autosomal dominant disorder characterized by post-natal development of arginine vasopressin (AVP) deficiency due to mutations in the AVP gene.	1	44	44	Familial neurohypophyseal diabetes insipidus	intuitive: the only way to get the correct annotation is to search for "Familial central diabetes insipidus" perhaps "neurohypophyseal" refers to the "central" included in the annotation	C0342394	Familial central diabetes insipidus			
30	10369876	1	Familial neurohypophyseal diabetes insipidus is an autosomal dominant disorder characterized by post-natal development of arginine vasopressin (AVP) deficiency due to mutations in the AVP gene.	52	78	27	autosomal dominant disorder	intuitive: add hereditary in order to get a match	C0265385	Autosomal dominant hereditary disorder			
30	10369876	1	Familial neurohypophyseal diabetes insipidus is an autosomal dominant disorder characterized by post-natal development of arginine vasopressin (AVP) deficiency due to mutations in the AVP gene.	123	159	37	arginine vasopressin (AVP) deficiency	textual	C0149676	Enzyme Deficiency			
31	10377440	1	A somatic mutation in the X linked PIGA gene is responsible for the deficiency of glycosyl phosphatidylinositol (GPI)-anchored proteins on blood cells from patients with paroxysmal nocturnal hemoglobinuria.	171	205	35	paroxysmal nocturnal hemoglobinuria	textual	C0024790	Paroxysmal nocturnal hemoglobinuria			
33	10382909	1	Direct sequencing of the emerin gene in 22 families with Emery-Dreifuss muscular dystrophy (EMD) revealed mutations in 21 (95%), confirming that emerin mutations can be identified in the majority of families with X-linked EMD.	93	95	3	EMD	textual. Although does not yield correct UMLS code	C0410189	Muscular Dystrophy, Emery-Dreifuss			
33	10382909	1	Direct sequencing of the emerin gene in 22 families with Emery-Dreifuss muscular dystrophy (EMD) revealed mutations in 21 (95%), confirming that emerin mutations can be identified in the majority of families with X-linked EMD.	223	225	3	EMD	textual. Although does not yield correct UMLS code	C0410189	Muscular Dystrophy, Emery-Dreifuss			*****
33	10382909	1	Direct sequencing of the emerin gene in 22 families with Emery-Dreifuss muscular dystrophy (EMD) revealed mutations in 21 (95%), confirming that emerin mutations can be identified in the majority of families with X-linked EMD.	58	90	33	Emery-Dreifuss muscular dystrophy	textual	C0410189	Muscular Dystrophy, Emery-Dreifuss			
34	10398279	7	This suggests that unlike cases of breast and ovarian cancers, mutations in BRCA1 or BRCA2 do not significantly predispose men to prostate cancer..	36	61	26	breast and ovarian cancers	intuitive: list is present, a search for "breast cancers" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
34	10398279	7	This suggests that unlike cases of breast and ovarian cancers, mutations in BRCA1 or BRCA2 do not significantly predispose men to prostate cancer..	47	61	15	ovarian cancers	textual - "ovarian cancer" yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
34	10398279	7	This suggests that unlike cases of breast and ovarian cancers, mutations in BRCA1 or BRCA2 do not significantly predispose men to prostate cancer..	131	145	15	prostate cancer	textual - yields 1 of 2 UMLS codes (Malignant neoplasm of prostate [C0376358]). Provides another possible UMLS code (Prostate carcinoma [C0600139]). The other annotated code, C0936223 [Prostate cancer metastatic] is not yielded by the search.	T0000014- C0936223,C0376358	Malignant neoplasm of prostate - Prostate cancer metastatic	Prostate carcinoma [C0600139]		
35	10406661	6	Sequencing of the index patients' genomic DNA identified four new dominant mutations in COL2A1 that result in Kniest dysplasia: a 21-bp deletion in exon 16, an 18-bp deletion in exon 19, and 4-bp deletions in the splice donor sites of introns 14 and 20.	111	126	16	Kniest dysplasia	textual	C0265279	Kniest dysplasia			
36	10406661	9	These data suggest that Kniest dysplasia results from shorter type II collagen monomers, and support the hypothesis that alteration of a specific COL2A1 domain, which may span from exons 12 to 24, leads to the Kniest dysplasia phenotype..	25	40	16	Kniest dysplasia	textual	C0265279	Kniest dysplasia			
36	10406661	9	These data suggest that Kniest dysplasia results from shorter type II collagen monomers, and support the hypothesis that alteration of a specific COL2A1 domain, which may span from exons 12 to 24, leads to the Kniest dysplasia phenotype..	211	226	16	Kniest dysplasia	textual	C0265279	Kniest dysplasia			
37	10408771	1	Classical galactosemia is caused by a deficiency in activity of the enzyme galactose-1-phosphate uridyl transferase (GALT), which, in turn, is caused by mutations at the GALT gene.	1	22	22	Classical galactosemia	textual	C0268151	Classical galactosemia			
37	10408771	1	Classical galactosemia is caused by a deficiency in activity of the enzyme galactose-1-phosphate uridyl transferase (GALT), which, in turn, is caused by mutations at the GALT gene.	39	115	77	deficiency in activity of the enzyme galactose-1-phosphate uridyl transferase	intuitive: search of "enzyme deficiency" yields correct UMLS code	C0149676	Enzyme Deficiency			
38	10408776	1	To investigate the nature of somatic von Hippel-Lindau (VHL) mutations, we analyzed 173 primary sporadic human renal cell carcinomas for mutations of the VHL tumor suppressor gene, using polymerase chain reaction (PCR) and single-strand conformational polymorphism analysis (SSCP) of DNA.	30	60	31	somatic von Hippel-Lindau (VHL)	intuitive	T0000009 - C0241952,C0019562	INTRACRANIAL NEOPLASM, VON HIPPEL-LINDAU DISEASE - Von Hippel-Lindau Syndrome	Somatic dysfunction C0264202		
38	10408776	1	To investigate the nature of somatic von Hippel-Lindau (VHL) mutations, we analyzed 173 primary sporadic human renal cell carcinomas for mutations of the VHL tumor suppressor gene, using polymerase chain reaction (PCR) and single-strand conformational polymorphism analysis (SSCP) of DNA.	57	59	3	VHL	textual - finds 1 of 2 UMLS codes (C0019562). Also yields 2 other UMLS codes.	T0000009 - C0241952,C0019562	INTRACRANIAL NEOPLASM, VON HIPPEL-LINDAU DISEASE - Von Hippel-Lindau Syndrome			
38	10408776	1	To investigate the nature of somatic von Hippel-Lindau (VHL) mutations, we analyzed 173 primary sporadic human renal cell carcinomas for mutations of the VHL tumor suppressor gene, using polymerase chain reaction (PCR) and single-strand conformational polymorphism analysis (SSCP) of DNA.	112	132	21	renal cell carcinomas	textual - yields 1 of 2 UMLS codes ( [ C0007134 ] Renal Cell Carcinoma).  I did not have the expertise to know why "Clear cell renal cell carcinoma" was annotated	T0000007 - C0007134, C0279702	Renal Cell Carcinoma - Clear Cell Renal Cell Carcinoma			
39	10408776	5	VHL mutations were found only in the nonpapillary renal cell carcinoma (RCC) subtype, as previously reported.	1	3	3	VHL	intuitive: abstract defines "VHL" as von Hippel-Lindau yields UMLS code C0019562, however, also yields 2 other UMLS codes.	C0019562	Von Hippel-Lindau Syndrome			
39	10408776	5	VHL mutations were found only in the nonpapillary renal cell carcinoma (RCC) subtype, as previously reported.	73	75	3	RCC	textual - yields 1 of 2 UMLS codes ( [ C0007134 ] Renal Cell Carcinoma).	T0000007 - C0007134, C0279702	Renal Cell Carcinoma - Clear Cell Renal Cell Carcinoma			
39	10408776	5	VHL mutations were found only in the nonpapillary renal cell carcinoma (RCC) subtype, as previously reported.	51	70	20	renal cell carcinoma	textual - yields 1 of 2 UMLS codes ( [ C0007134 ] Renal Cell Carcinoma).	T0000007 - C0007134, C0279702	Renal Cell Carcinoma - Clear Cell Renal Cell Carcinoma			
40	10411929	3	Chediak-Higashi syndrome (CHS) is an inherited disorder caused by mutations in the lysosomal trafficking regulator gene, LYST.	27	29	3	CHS	textual - yields correct code but also yields 5 other UMLS codes	C0007965	chediak-higashi syndrome			
40	10411929	3	Chediak-Higashi syndrome (CHS) is an inherited disorder caused by mutations in the lysosomal trafficking regulator gene, LYST.	1	24	24	Chediak-Higashi syndrome	textual	C0007965	chediak-higashi syndrome			
41	10425038	1	The gene for ataxia-telangiectasia, ATM, spans about 150 kb of genomic DNA.	14	34	21	ataxia-telangiectasia	textual	C0004135	Ataxia Telangiectasia			
42	10426999	1	BRCA1 encodes a tumor suppressor that is mutated in familial breast and ovarian cancers.	53	87	35	familial breast and ovarian cancers	intuitive: list is present search of "familial breast cancer" yields correct UMLS code	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
42	10426999	1	BRCA1 encodes a tumor suppressor that is mutated in familial breast and ovarian cancers.	53	87	35	familial breast and ovarian cancers	intuitive - list is present	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
43	10430841	1	We describe seven Dutch patients from six families with a slowly progressive, mainly spinal cord syndrome that remained for many years the sole expression of cerebrotendinous xanthomatosis CTX.	190	192	3	CTX	textual.  Search yields correct UMLS code, also yields 2 other UMLS codes.	C0238052	Xanthomatosis, Cerebrotendinous			
43	10430841	1	We describe seven Dutch patients from six families with a slowly progressive, mainly spinal cord syndrome that remained for many years the sole expression of cerebrotendinous xanthomatosis CTX.	159	188	30	cerebrotendinous xanthomatosis	textual	C0238052	Xanthomatosis, Cerebrotendinous			
44	10441329	2	Mutations in the ATP7B gene lead to Wilson disease, a copper toxicity disorder characterized by dramatic build-up of intracellular hepatic copper with subsequent hepatic and neuro-logical abnormalities.	37	50	14	Wilson disease	textual	C0019202	Hepatolenticular Degeneration			
45	10441329	3	Using homologous recombination to disrupt the normal translation of ATP7B, we have generated a strain of mice that are homozygous mutants (null) for the Wilson disease gene.	154	167	14	Wilson disease	textual	C0019202	Hepatolenticular Degeneration			
46	10441329	9	In summary, inactivation of the murine ATP7B gene produces a form of cirrhotic liver disease that resembles Wilson disease in humans and the 'toxic milk' phenotype in the mouse..	70	92	23	cirrhotic liver disease	intuitive: search of "liver cirrhosis" yields correct UMLS code	C0023890	Liver Cirrhosis			
46	10441329	9	In summary, inactivation of the murine ATP7B gene produces a form of cirrhotic liver disease that resembles Wilson disease in humans and the 'toxic milk' phenotype in the mouse..	109	122	14	Wilson disease	textual	C0019202	Hepatolenticular Degeneration			
47	10441571	1	The PAX6 gene is involved in ocular morphogenesis, and PAX6 mutations have been detected in various types of ocular anomalies, including aniridia, Peters anomaly, corneal dystrophy, congenital cataract, and foveal hypoplasia.	110	125	16	ocular anomalies	intuitive	C0015393	Eye Abnormalities			
47	10441571	1	The PAX6 gene is involved in ocular morphogenesis, and PAX6 mutations have been detected in various types of ocular anomalies, including aniridia, Peters anomaly, corneal dystrophy, congenital cataract, and foveal hypoplasia.	138	145	8	aniridia	textual	C0003076	Aniridia			
47	10441571	1	The PAX6 gene is involved in ocular morphogenesis, and PAX6 mutations have been detected in various types of ocular anomalies, including aniridia, Peters anomaly, corneal dystrophy, congenital cataract, and foveal hypoplasia.	148	161	14	Peters anomaly	textual	C0344559	Irido-corneo-trabecular dysgenesis			
47	10441571	1	The PAX6 gene is involved in ocular morphogenesis, and PAX6 mutations have been detected in various types of ocular anomalies, including aniridia, Peters anomaly, corneal dystrophy, congenital cataract, and foveal hypoplasia.	164	180	17	corneal dystrophy	textual	C0010036	Corneal dystrophy			
47	10441571	1	The PAX6 gene is involved in ocular morphogenesis, and PAX6 mutations have been detected in various types of ocular anomalies, including aniridia, Peters anomaly, corneal dystrophy, congenital cataract, and foveal hypoplasia.	183	201	19	congenital cataract	textual	C0009691	Congenital cataract			
47	10441571	1	The PAX6 gene is involved in ocular morphogenesis, and PAX6 mutations have been detected in various types of ocular anomalies, including aniridia, Peters anomaly, corneal dystrophy, congenital cataract, and foveal hypoplasia.	208	224	17	foveal hypoplasia	textual	C1969726	FOVEAL HYPOPLASIA			
48	10447259	1	Wiskott-Aldrich syndrome (WAS) is an X-linked recessive immunodeficiency characterized by thrombocytopenia, eczema, and recurrent infections, and caused by mutations in the WAS protein (WASP) gene.	27	29	3	WAS	textual - does yield the correct code, but also yields 20 other codes	C0043194	Wiskott-Aldrich Syndrome			
48	10447259	1	Wiskott-Aldrich syndrome (WAS) is an X-linked recessive immunodeficiency characterized by thrombocytopenia, eczema, and recurrent infections, and caused by mutations in the WAS protein (WASP) gene.	1	24	24	Wiskott-Aldrich syndrome	textual	C0043194	Wiskott-Aldrich Syndrome			
48	10447259	1	Wiskott-Aldrich syndrome (WAS) is an X-linked recessive immunodeficiency characterized by thrombocytopenia, eczema, and recurrent infections, and caused by mutations in the WAS protein (WASP) gene.	91	106	16	thrombocytopenia	textual - was not annotated originally		Thrombocytopenia	C0040034		
48	10447259	1	Wiskott-Aldrich syndrome (WAS) is an X-linked recessive immunodeficiency characterized by thrombocytopenia, eczema, and recurrent infections, and caused by mutations in the WAS protein (WASP) gene.	109	114	6	eczema	textual - was not annotated originally		Eczema	C0013595		
48	10447259	1	Wiskott-Aldrich syndrome (WAS) is an X-linked recessive immunodeficiency characterized by thrombocytopenia, eczema, and recurrent infections, and caused by mutations in the WAS protein (WASP) gene.	131	140	10	infections	textual - search yields both UMLS codes, but also yields 2 other codes	T0000020 - C0021311,C0009450	Infection - Group name			
49	10470088	3	Most sporadic colorectal cancers also have two APC mutations.	15	32	18	colorectal cancers	textual - search yields 2 out of 3 UMLS codes, does not yield C0346629	T0000016 - C0346629,C0009402,C1527249	Malignant neoplasm of large intestine - group name			
50	10470286	8	Our data demonstrate that mutations occur in the Mxi1 gene in neurofibrosarcoma.	63	79	17	neurofibrosarcoma	textual	C0206729	Neurofibrosarcoma			
51	10470286	9	Missense mutations in the functional domain of Mxi1 in these cases may be involved in the pathogenesis of neurofibrosarcoma..	107	123	17	neurofibrosarcoma	textual	C0206729	Neurofibrosarcoma			
52	10480214	4	These results confirmed the diagnosis of X-linked Emery-Dreifuss muscular dystrophy (EDMD), and reinforce the necessity of molecular genetic diagnosis of the membrane protein emerin in younger patients with possible EDMD before appearance of the typical symptoms, to avoid sudden cardiac death..	86	89	4	EDMD	textual	C0751337	X-Linked Emery-Dreifuss Muscular Dystrophy			
52	10480214	4	These results confirmed the diagnosis of X-linked Emery-Dreifuss muscular dystrophy (EDMD), and reinforce the necessity of molecular genetic diagnosis of the membrane protein emerin in younger patients with possible EDMD before appearance of the typical symptoms, to avoid sudden cardiac death..	217	220	4	EDMD	textual	C0751337	X-Linked Emery-Dreifuss Muscular Dystrophy			
52	10480214	4	These results confirmed the diagnosis of X-linked Emery-Dreifuss muscular dystrophy (EDMD), and reinforce the necessity of molecular genetic diagnosis of the membrane protein emerin in younger patients with possible EDMD before appearance of the typical symptoms, to avoid sudden cardiac death..	42	83	42	X-linked Emery-Dreifuss muscular dystrophy	textual	C0751337	X-Linked Emery-Dreifuss Muscular Dystrophy			
52	10480214	4	These results confirmed the diagnosis of X-linked Emery-Dreifuss muscular dystrophy (EDMD), and reinforce the necessity of molecular genetic diagnosis of the membrane protein emerin in younger patients with possible EDMD before appearance of the typical symptoms, to avoid sudden cardiac death..	274	293	20	sudden cardiac death	textual	C0085298	Sudden Cardiac Death			
53	10484765	1	The mutation causing myotonic dystrophy (DM) has been identified as a CTG expansion in the 3'-untranslated region (3'-UTR) of the DM protein kinase gene ( DMPK ), but the mechanism(s) of pathogenesis remain unknown.	42	43	2	DM	textual - search will yield 1 of 2 UMLS codes (C0027126), but also yields 8 other UMLS codes.	T0000024 - C0027126,C0242007	Myotonic Dystrophy -  Group name			
53	10484765	1	The mutation causing myotonic dystrophy (DM) has been identified as a CTG expansion in the 3'-untranslated region (3'-UTR) of the DM protein kinase gene ( DMPK ), but the mechanism(s) of pathogenesis remain unknown.	22	39	18	myotonic dystrophy	textual - search yields 1 of 2 UMLS codes (C0027126).  The second code has to do with muscular dystrophy and must be searched intuitively.	T0000024 - C0027126,C0242007	Myotonic Dystrophy -  Group name			
54	10484981	2	Although hereditary TP53 mutation is very rare in different human cancers, it has been frequently reported in Li-Fraumeni syndrome.	67	73	7	cancers	textual - search yields correct UMLS code, but also yields 3 others	C0006826	Malignant Neoplasms			
54	10484981	2	Although hereditary TP53 mutation is very rare in different human cancers, it has been frequently reported in Li-Fraumeni syndrome.	111	130	20	Li-Fraumeni syndrome	textual	C0085390	Li-Fraumeni Syndrome			
55	10484981	4	In a Turkish family with the diagnosis of Li-Fraumeni syndrome, we analyzed the mutation pattern of TP53, P57KIP2, P15INK4B, and P16INK4A in the peripheral blood, and loss of heterozygosity (homo/hemizygous deletion) pattern of TP53 and P15INK4B/P16INK4A in two tumor tissues.	43	62	20	Li-Fraumeni syndrome	textual	C0085390	Li-Fraumeni Syndrome			
55	10484981	4	In a Turkish family with the diagnosis of Li-Fraumeni syndrome, we analyzed the mutation pattern of TP53, P57KIP2, P15INK4B, and P16INK4A in the peripheral blood, and loss of heterozygosity (homo/hemizygous deletion) pattern of TP53 and P15INK4B/P16INK4A in two tumor tissues.	263	267	5	tumor	textual - yields correct UMLS code, but also provided 1 other code	C0027651	Neoplasms			
56	10487695	9	It is now possible to use gene diagnostics of this unique NIS mutation to identify patients with congenital hypothyroidism due to an iodide transport defect in this family and to determine the carrier state of potential parents for genetic counseling and arranging rapid and early diagnosis of their infants..	98	122	25	congenital hypothyroidism	textual - yields correct UMLS code, but also provided 1 other code	C0010308	Cretinism			
56	10487695	9	It is now possible to use gene diagnostics of this unique NIS mutation to identify patients with congenital hypothyroidism due to an iodide transport defect in this family and to determine the carrier state of potential parents for genetic counseling and arranging rapid and early diagnosis of their infants..	134	156	23	iodide transport defect	textual	C0271826	Iodide transport defect			
57	10502833	2	In order to investigate the molecular basis for argininemia in four unrelated Portuguese patients (two from northern Portugal and two from Madeira Island) we performed a DNA sequence analysis of all the exons and exon/intron boundaries of the liver-type arginase gene ARG1.	49	59	11	argininemia	textual	C0268548	Hyperargininemia			
58	10519880	1	OBJECTIVES: A Japanese family with cerebrotendinous xanthomatosis (CTX) was investigated for a sequence alteration in the sterol 27-hydroxylase gene CYP27.	68	70	3	CTX	textual - yields correct UMLS code, but also yields 2 other codes	C0238052	Xanthomatosis, Cerebrotendinous			
58	10519880	1	OBJECTIVES: A Japanese family with cerebrotendinous xanthomatosis (CTX) was investigated for a sequence alteration in the sterol 27-hydroxylase gene CYP27.	36	65	30	cerebrotendinous xanthomatosis	textual	C0238052	Xanthomatosis, Cerebrotendinous			
59	10521293	3	Direct DNA sequencing was done to screen the entire coding region of the WFS1 gene in 30 patients from 19 British kindreds with Wolfram syndrome.	129	144	16	Wolfram syndrome	textual	C0043207	Wolfram Syndrome			
60	10528243	1	To determine the prevalence and characterize demographic, clinical, and genetic features of familial Mediterranean fever (FMF) of late onset, all patients experiencing their first FMF attack at age 40 years or more were identified using the computerized registry of our FMF clinic, and then thoroughly interviewed and examined.	123	125	3	FMF	textual - yields correct UMLS code, but also yields 1 other code	C0031069	Familial Mediterranean Fever			
60	10528243	1	To determine the prevalence and characterize demographic, clinical, and genetic features of familial Mediterranean fever (FMF) of late onset, all patients experiencing their first FMF attack at age 40 years or more were identified using the computerized registry of our FMF clinic, and then thoroughly interviewed and examined.	181	183	3	FMF	textual - yields correct UMLS code, but also yields 1 other code	C0031069	Familial Mediterranean Fever			
60	10528243	1	To determine the prevalence and characterize demographic, clinical, and genetic features of familial Mediterranean fever (FMF) of late onset, all patients experiencing their first FMF attack at age 40 years or more were identified using the computerized registry of our FMF clinic, and then thoroughly interviewed and examined.	93	120	28	familial Mediterranean fever	textual	C0031069	Familial Mediterranean Fever			
61	10528853	1	The hereditary breast and ovarian cancer syndrome is associated with a high frequency of BRCA1 mutations.	5	40	36	hereditary breast and ovarian cancer	intuitive: list is present search of "familial breast cancer" yields correct UMLS code	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
61	10528853	1	The hereditary breast and ovarian cancer syndrome is associated with a high frequency of BRCA1 mutations.	5	40	36	hereditary breast and ovarian cancer	intuitive - list is present	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
62	10528860	2	At 7 years of age he was referred to us by the paediatrician because of symptoms of Prader-Willi syndrome PWS.	107	109	3	PWS	textual	C0032897	Prader-Willi Syndrome			
62	10528860	2	At 7 years of age he was referred to us by the paediatrician because of symptoms of Prader-Willi syndrome PWS.	85	105	21	Prader-Willi syndrome	textual	C0032897	Prader-Willi Syndrome			
63	10533031	1	Friedreich ataxia is an autosomal recessive disorder caused by mutations in the FRDA gene that encodes a 210-amino acid protein called frataxin.	1	17	17	Friedreich ataxia	textual	C0016719	Friedreich Ataxia			
63	10533031	1	Friedreich ataxia is an autosomal recessive disorder caused by mutations in the FRDA gene that encodes a 210-amino acid protein called frataxin.	25	52	28	autosomal recessive disorder	Textual. This text is what annotation is based on. However it won't yield the annotated code, the code can only be found by querying "autosomal recessive hereditary disorder	C0265388	Autosomal recessive hereditary disorder			
64	10533068	1	Juvenile retinoschisis is an X-linked recessive disease caused by mutations in the XLRS1 gene.	1	22	22	Juvenile retinoschisis	textual	C0271091	Retinoschisis, Juvenile, X-Linked			
64	10533068	1	Juvenile retinoschisis is an X-linked recessive disease caused by mutations in the XLRS1 gene.	30	55	26	X-linked recessive disease	textual	C1138434	Genetic Diseases, X-Linked			
65	10533068	2	We screened 31 new unrelated patients and families for XLRS1 mutations in addition to previously reported mutations for 60 of our families Retinoschisis Consortium, Hum Mol Genet 1998;7:1185-1192.	140	152	13	Retinoschisis	textual	C0152439	Retinoschisis			
66	10556283	1	The hSNF5/INI1 gene which encodes a member of the SWI/SNF chromatin ATP-dependent remodeling complex, is a new tumor suppressor gene localized on chromosome 22q11.2 and recently shown to be mutated in malignant rhabdoid tumors.	112	116	5	tumor	textual	C0206743	Rhabdoid Tumor			
66	10556283	1	The hSNF5/INI1 gene which encodes a member of the SWI/SNF chromatin ATP-dependent remodeling complex, is a new tumor suppressor gene localized on chromosome 22q11.2 and recently shown to be mutated in malignant rhabdoid tumors.	212	226	15	rhabdoid tumors	textual	C0206743	Rhabdoid Tumor			
67	10556283	8	These results suggest that rhabdoid tumors, choroid plexus carcinomas and a subset of medulloblastomas and cPNETs share common pathways of oncogenesis related to hSNF5/INI1 alteration and that hSNF5/INI1 mutations define a genetically homogeneous family of highly aggressive cancers mainly occurring in young children and frequently, but not always, exhibiting a rhabdoid phenotype..	28	42	15	rhabdoid tumors	textual	C0206743	Rhabdoid Tumor			
67	10556283	8	These results suggest that rhabdoid tumors, choroid plexus carcinomas and a subset of medulloblastomas and cPNETs share common pathways of oncogenesis related to hSNF5/INI1 alteration and that hSNF5/INI1 mutations define a genetically homogeneous family of highly aggressive cancers mainly occurring in young children and frequently, but not always, exhibiting a rhabdoid phenotype..	45	69	25	choroid plexus carcinomas	textual	C0431109	Choroid Plexus Carcinoma			
67	10556283	8	These results suggest that rhabdoid tumors, choroid plexus carcinomas and a subset of medulloblastomas and cPNETs share common pathways of oncogenesis related to hSNF5/INI1 alteration and that hSNF5/INI1 mutations define a genetically homogeneous family of highly aggressive cancers mainly occurring in young children and frequently, but not always, exhibiting a rhabdoid phenotype..	87	102	16	medulloblastomas	textual	C0025149	medulloblastoma			
67	10556283	8	These results suggest that rhabdoid tumors, choroid plexus carcinomas and a subset of medulloblastomas and cPNETs share common pathways of oncogenesis related to hSNF5/INI1 alteration and that hSNF5/INI1 mutations define a genetically homogeneous family of highly aggressive cancers mainly occurring in young children and frequently, but not always, exhibiting a rhabdoid phenotype..	140	150	11	oncogenesis	textual	C1326912	Tumorigenesis			
67	10556283	8	These results suggest that rhabdoid tumors, choroid plexus carcinomas and a subset of medulloblastomas and cPNETs share common pathways of oncogenesis related to hSNF5/INI1 alteration and that hSNF5/INI1 mutations define a genetically homogeneous family of highly aggressive cancers mainly occurring in young children and frequently, but not always, exhibiting a rhabdoid phenotype..	276	282	7	cancers	intuitive: Knowledge of what cancers are listed in the text would allow one to reach this annotation.  The cancers are of the central or peripheral nervous system, leading to the Neuroectodermal Tumor annotation	C0206663	Neuroectodermal Tumor, Primitive			
68	10557317	1	The puzzling linkage between genetic hemochromatosis and histocompatibility loci became even more so when the gene involved, HFE, was identified.	38	52	15	hemochromatosis	textual	C0018995	Hemochromatosis			
69	10571943	3	The mutations found in our cases occurred in the same exon of the WT1 gene as detected in Denys-Drash syndrome (DDS) and could not be explained by the previously proposed mechanism.	113	115	3	DDS	textual - does not yield correct UMLS code	C0950121	Denys-Drash Syndrome			
69	10571943	3	The mutations found in our cases occurred in the same exon of the WT1 gene as detected in Denys-Drash syndrome (DDS) and could not be explained by the previously proposed mechanism.	91	110	20	Denys-Drash syndrome	textual	C0950121	Denys-Drash Syndrome			
70	10577908	1	Sjogren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity, and deficient activity of fatty aldehyde dehydrogenase FALDH.	27	29	3	SLS	textual - provides the correct UMLS code, however, also yields 4 other codes	C0037231	Sjogren-Larsson Syndrome]			
70	10577908	1	Sjogren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity, and deficient activity of fatty aldehyde dehydrogenase FALDH.	1	24	24	Sjogren-Larsson syndrome	textual	C0037231	Sjogren-Larsson Syndrome]			
70	10577908	1	Sjogren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity, and deficient activity of fatty aldehyde dehydrogenase FALDH.	38	65	28	autosomal recessive disorder	Textual. This text is what annotation is based on. However it won't yield the annotated code, the code can only be found by querying "autosomal recessive hereditary disorder	C0265388	Autosomal recessive hereditary disorder			
70	10577908	1	Sjogren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity, and deficient activity of fatty aldehyde dehydrogenase FALDH.	84	93	10	ichthyosis	textual - provides the correct UMLS code, however, also yields 1 other UMLS code	C0020757	Ichthyoses			
70	10577908	1	Sjogren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity, and deficient activity of fatty aldehyde dehydrogenase FALDH.	96	113	18	mental retardation	textual	C0025362	Mental Retardation			
70	10577908	1	Sjogren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity, and deficient activity of fatty aldehyde dehydrogenase FALDH.	116	125	10	spasticity	textual	C0026838	Muscle Spasticity			
70	10577908	1	Sjogren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity, and deficient activity of fatty aldehyde dehydrogenase FALDH.	132	187	56	deficient activity of fatty aldehyde dehydrogenase FALDH	intuitive: text states a deficiency of a specific enzyme	C0149676	Enzyme Deficiency			
71	10598803	1	Inherited mutations of the APC gene predispose carriers to multiple adenomatous polyps of the colon and rectum and to colorectal cancer.	60	86	27	multiple adenomatous polyps	textual	C0334294	Multiple adenomatous polyps			
71	10598803	1	Inherited mutations of the APC gene predispose carriers to multiple adenomatous polyps of the colon and rectum and to colorectal cancer.	69	99	31	adenomatous polyps of the colon	textual	C0850572	Adenomatous polyp of colon			
71	10598803	1	Inherited mutations of the APC gene predispose carriers to multiple adenomatous polyps of the colon and rectum and to colorectal cancer.	69	110	42	adenomatous polyps of the colon and rectum	Intuitive:  List present search of "adenomatous polyps of the rectum" yields UMLS code		Adenoma of rectum	C1302652		
71	10598803	1	Inherited mutations of the APC gene predispose carriers to multiple adenomatous polyps of the colon and rectum and to colorectal cancer.	119	135	17	colorectal cancer	textual - search yields 2 out of 3 UMLS codes, does not yield C0346629	T0000016 - C0346629,C0009402,C1527249	Malignant neoplasm of large intestine - group name			
72	10598803	2	Mutations located at the extreme 5' end of the APC gene, however, are associated with a less severe disease known as attenuated adenomatous polyposis coli AAPC.	156	159	4	AAPC	textual - yields a more specific UMLS code than what was annotated, ADENOMATOUS POLYPOSIS COLI, ATTENUATED [C1868019]	C0032580	Adenomatous Polyposis Coli	C1868019		
72	10598803	2	Mutations located at the extreme 5' end of the APC gene, however, are associated with a less severe disease known as attenuated adenomatous polyposis coli AAPC.	118	154	37	attenuated adenomatous polyposis coli	textual - yields a more specific UMLS code than what was annotated, ADENOMATOUS POLYPOSIS COLI, ATTENUATED [C1868019]	C0032580	Adenomatous Polyposis Coli	C1868019		
73	10602116	6	The present results question the sensitivity of the perchlorate test for the diagnosis of Pendred syndrome and support the use of a molecular analysis of the PDS gene in the assessment of individuals with severe to profound congenital hearing loss associated with inner ear morphological anomaly even in the absence of a thyroid goiter..	91	106	16	Pendred syndrome	textual	C0271829	Pendred's syndrome			
73	10602116	6	The present results question the sensitivity of the perchlorate test for the diagnosis of Pendred syndrome and support the use of a molecular analysis of the PDS gene in the assessment of individuals with severe to profound congenital hearing loss associated with inner ear morphological anomaly even in the absence of a thyroid goiter..	225	247	23	congenital hearing loss	intuitive: could not find a substring that yielded these two particular UMLS codes, although intuitively they make sense	C0262435	HEARING LOSS CONGENITAL	T0000005 - C1691779,C0339789		
73	10602116	6	The present results question the sensitivity of the perchlorate test for the diagnosis of Pendred syndrome and support the use of a molecular analysis of the PDS gene in the assessment of individuals with severe to profound congenital hearing loss associated with inner ear morphological anomaly even in the absence of a thyroid goiter..	265	295	31	inner ear morphological anomaly	textual: however, this search does not yield the correct UMLS code.  Must search "inner ear anomaly" to get correct code	C0685874	Congenital abnormal shape of inner ear			
73	10602116	6	The present results question the sensitivity of the perchlorate test for the diagnosis of Pendred syndrome and support the use of a molecular analysis of the PDS gene in the assessment of individuals with severe to profound congenital hearing loss associated with inner ear morphological anomaly even in the absence of a thyroid goiter..	330	335	6	goiter	textual	C0018021	Goiter			
74	10612394	1	We show that hypomorphic mutations in hMRE11, but not in ATM, are present in certain individuals with an ataxia-telangiectasia-like disorder ATLD.	142	145	4	ATLD	textual - yields a more specific UMLS code than what was annotated, ATAXIA-TELANGIECTASIA-LIKE DISORDER [C1858391], also yields 1 other code	C0004135	Ataxia Telangiectasia	C1858391		
74	10612394	1	We show that hypomorphic mutations in hMRE11, but not in ATM, are present in certain individuals with an ataxia-telangiectasia-like disorder ATLD.	106	140	35	ataxia-telangiectasia-like disorder	textual - yields a more specific UMLS code than what was annotated, ATAXIA-TELANGIECTASIA-LIKE DISORDER [C1858391], also yields 1 other code	C0004135	Ataxia Telangiectasia	C1858391		
75	10618304	1	BACKGROUND: Mutations in the gene encoding the human cardiac Na(+) channel alpha-subunit (hH1) are responsible for chromosome 3-linked congenital long-QT syndrome (LQT3) and idiopathic ventricular fibrillation IVF.	165	168	4	LQT3	textual - Was not annotated, a more specific type of Long QT Syndrome	C1859062	LONG QT SYNDROME 3			
75	10618304	1	BACKGROUND: Mutations in the gene encoding the human cardiac Na(+) channel alpha-subunit (hH1) are responsible for chromosome 3-linked congenital long-QT syndrome (LQT3) and idiopathic ventricular fibrillation IVF.	211	213	3	IVF	textual - Was not annotated, text does not yield annotated code	C0042510	Ventricular Fibrillation	C0340493 - Paroxysmal familial ventricular fibrillation		
75	10618304	1	BACKGROUND: Mutations in the gene encoding the human cardiac Na(+) channel alpha-subunit (hH1) are responsible for chromosome 3-linked congenital long-QT syndrome (LQT3) and idiopathic ventricular fibrillation IVF.	147	162	16	chromosome 3-linked congenital long-QT syndrome	textual - Was not annotated, a more specific type of Long QT Syndrome	C1859062	LONG QT SYNDROME 3			
75	10618304	1	BACKGROUND: Mutations in the gene encoding the human cardiac Na(+) channel alpha-subunit (hH1) are responsible for chromosome 3-linked congenital long-QT syndrome (LQT3) and idiopathic ventricular fibrillation IVF.	175	209	35	idiopathic ventricular fibrillation	textual - Was not annotated, yields alternative UMLS code	C0042510	Ventricular Fibrillation	C0340493 - Paroxysmal familial ventricular fibrillation		
76	10631148	3	Single-sperm typing techniques were performed for each sample by study of two informative short tandem repeats located either in or close to the retinoblastoma gene RB1.	146	159	14	retinoblastoma	textual - provides correct UMLS code, however, also provides 1 other code (the code for the gene mentioned)	C0035335	Retinoblastoma			
77	10633128	2	The recent discovery of the gene that is mutated in this condition, FRDA, has led to rapid advances in the understanding of the pathogenesis of Friedreich ataxia.	145	161	17	Friedreich ataxia	textual	C0016719	Friedreich Ataxia			
78	10639175	2	The molecular details of ATM function in the nervous system are unclear, although the neurological lesion in ataxia-telangiectasia becomes apparent early in life, suggesting a developmental origin.	110	130	21	ataxia-telangiectasia	textual	C0004135	Ataxia Telangiectasia			
79	10677309	2	Mutations in the ATM gene are responsible for the autosomal recessive disorder ataxia-telangiectasia (A-T) MIM 208900.	103	105	3	A-T	textual - provides Wrong UMLS code	C0004135	Ataxia Telangiectasia			
79	10677309	2	Mutations in the ATM gene are responsible for the autosomal recessive disorder ataxia-telangiectasia (A-T) MIM 208900.	51	78	28	autosomal recessive disorder	Textual. This text is what annotation is based on. However it won't yield the annotated code, the code can only be found by querying "autosomal recessive hereditary disorder	C0265388	Autosomal recessive hereditary disorder			
79	10677309	2	Mutations in the ATM gene are responsible for the autosomal recessive disorder ataxia-telangiectasia (A-T) MIM 208900.	80	100	21	ataxia-telangiectasia	textual	C0004135	Ataxia Telangiectasia			
80	10698963	2	Inherited G6PD deficiency is associated with either episodic hemolytic anemia (triggered by fava beans or other agents) or life-long hemolytic anemia.	11	25	15	G6PD deficiency	textual - does not yield either of the 2 UMLS codes that were annotated.  Yields UMLS code for Glycogen Storage Disease Type I (C0017920).  I believe the codes that were annotated are more specific than the Glycogen Storage Disease Type I (C0017920).	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia - Glucosephosphate Dehydrogenase Deficiency	C0017920		
80	10698963	2	Inherited G6PD deficiency is associated with either episodic hemolytic anemia (triggered by fava beans or other agents) or life-long hemolytic anemia.	62	77	16	episodic hemolytic anemia	textual	C1387528	Acute haemolytic anaemia			
80	10698963	2	Inherited G6PD deficiency is associated with either episodic hemolytic anemia (triggered by fava beans or other agents) or life-long hemolytic anemia.	134	149	16	hemolytic anemia	textual	C0002878	Anemia, Hemolytic			
81	10698963	4	From the alignment of the amino acid (aa) sequence of 52 glucose 6-phosphate dehydrogenase (G6PD) species from 42 different organisms, we found a striking correlation between the aa replacements that cause G6PD deficiency in humans and the sequence conservation of G6PD: two-thirds of such replacements are in highly and moderately conserved (50-99%) aa; relatively few are in fully conserved aa (where they might be lethal) or in poorly conserved aa, where presumably they simply would not cause G6PD deficiency.	207	221	15	G6PD deficiency	textual - does not yield either of the 2 UMLS codes that were annotated.  Yields UMLS code for Glycogen Storage Disease Type I (C0017920).  I believe the codes that were annotated are more specific than the Glycogen Storage Disease Type I (C0017920).	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia - Glucosephosphate Dehydrogenase Deficiency	C0017920		
81	10698963	4	From the alignment of the amino acid (aa) sequence of 52 glucose 6-phosphate dehydrogenase (G6PD) species from 42 different organisms, we found a striking correlation between the aa replacements that cause G6PD deficiency in humans and the sequence conservation of G6PD: two-thirds of such replacements are in highly and moderately conserved (50-99%) aa; relatively few are in fully conserved aa (where they might be lethal) or in poorly conserved aa, where presumably they simply would not cause G6PD deficiency.	498	512	15	G6PD deficiency	textual - does not yield either of the 2 UMLS codes that were annotated.  Yields UMLS code for Glycogen Storage Disease Type I (C0017920).  I believe the codes that were annotated are more specific than the Glycogen Storage Disease Type I (C0017920).	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia - Glucosephosphate Dehydrogenase Deficiency	C0017920		
82	10706858	10	We conclude that persons with PROS1 gene defects and protein S deficiency are at increased risk of thrombosis and that free protein S estimation offers the most reliable way of diagnosing the deficiency.	54	73	20	protein S deficiency	textual	C0242666	Protein S Deficiency			
82	10706858	10	We conclude that persons with PROS1 gene defects and protein S deficiency are at increased risk of thrombosis and that free protein S estimation offers the most reliable way of diagnosing the deficiency.	100	109	10	thrombosis	textual	C0040053	Thrombosis			
83	10706858	4	Twenty-eight index patients with protein S deficiency and a PROS1 gene defect were studied, together with 109 first-degree relatives.	34	53	20	protein S deficiency	textual	C0242666	Protein S Deficiency			
84	10709732	1	Autoimmune lymphoproliferative syndrome (ALPS) is characterized by autoimmune features and lymphoproliferations and is generally caused by defective Fas-mediated apoptosis.	42	45	4	ALPS	textual - yields correct UMLS code, however, also yields 13 others	C1328840	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME			
84	10709732	1	Autoimmune lymphoproliferative syndrome (ALPS) is characterized by autoimmune features and lymphoproliferations and is generally caused by defective Fas-mediated apoptosis.	1	39	39	Autoimmune lymphoproliferative syndrome	textual	C1328840	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME			
85	10712209	13	Although HPC1 accounts for only a small proportion of all families affected by hereditary prostate cancer, it appears to play a more prominent role in the subset of families with several members affected at an early age and with male-to-male disease transmission..	91	105	15	prostate cancer	textual - yields 1 of 2 UMLS codes (Malignant neoplasm of prostate [C0376358]). Provides another possible UMLS code (Prostate carcinoma [C0600139]). The other annotated code, C0936223 [Prostate cancer metastatic] is not yielded by the search.	T0000014- C0936223,C0376358	Malignant neoplasm of prostate - Prostate cancer metastatic	Prostate carcinoma [C0600139]		
86	10712225	2	We describe a recurrent large expansion of a maternal allele with 36 CAG repeats (to 66 and 57 repeats, respectively, in two daughters) associated with onset of Huntington disease (HD) in the second and third decade in a family without history of HD.	182	183	2	HD	textual - yields correct UMLS code, however, also yield 4 others	C0020179	Huntington Disease			
86	10712225	2	We describe a recurrent large expansion of a maternal allele with 36 CAG repeats (to 66 and 57 repeats, respectively, in two daughters) associated with onset of Huntington disease (HD) in the second and third decade in a family without history of HD.	248	249	2	HD	textual - yields correct UMLS code, however, also yield 4 others	C0020179	Huntington Disease			
86	10712225	2	We describe a recurrent large expansion of a maternal allele with 36 CAG repeats (to 66 and 57 repeats, respectively, in two daughters) associated with onset of Huntington disease (HD) in the second and third decade in a family without history of HD.	162	179	18	Huntington disease	textual - yields correct UMLS code, however, also yields code for "HD gene	C0020179	Huntington Disease			
87	10716718	1	Motor incoordination, immune deficiencies, and an increased risk of cancer are the characteristic features of the hereditary disease ataxia-telangiectasia (A-T), which is caused by mutations in the ATM gene.	157	159	3	A-T	textual - yields Wrong UMLS code	C0004135	Ataxia Telangiectasia			
87	10716718	1	Motor incoordination, immune deficiencies, and an increased risk of cancer are the characteristic features of the hereditary disease ataxia-telangiectasia (A-T), which is caused by mutations in the ATM gene.	23	41	19	immune deficiencies	textual - yields 1 of 2 UMLS codes (C0850497 [Immune Deficiency])	T0000026 - C0850497,C0021051	immune deficiency - Immunologic Deficiency Syndromes			
87	10716718	1	Motor incoordination, immune deficiencies, and an increased risk of cancer are the characteristic features of the hereditary disease ataxia-telangiectasia (A-T), which is caused by mutations in the ATM gene.	69	74	6	cancer	textual - yields correct UMLS code, however, also yields 3 others.	C0006826	Malignant Neoplasms			
87	10716718	1	Motor incoordination, immune deficiencies, and an increased risk of cancer are the characteristic features of the hereditary disease ataxia-telangiectasia (A-T), which is caused by mutations in the ATM gene.	134	154	21	ataxia-telangiectasia	textual	C0004135	Ataxia Telangiectasia			
88	10724175	1	Mutations in the BRCA1 (ref. 1) tumour suppressor gene are found in almost all of the families with inherited breast and ovarian cancers and about half of the families with only breast cancer.	101	136	36	inherited breast and ovarian cancers	intuitive: list is present search of "familial breast cancer" yields correct UMLS code	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
88	10724175	1	Mutations in the BRCA1 (ref. 1) tumour suppressor gene are found in almost all of the families with inherited breast and ovarian cancers and about half of the families with only breast cancer.	101	136	36	inherited breast and ovarian cancers	intuitive - list is present	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
88	10724175	1	Mutations in the BRCA1 (ref. 1) tumour suppressor gene are found in almost all of the families with inherited breast and ovarian cancers and about half of the families with only breast cancer.	179	191	13	breast cancer	textual - yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast			
89	10737119	9	Mutations in a gene coding for an ATP-binding protein were detected in idiopathic torsion dystonia (DYT1), and the GTP cyclohydrolase 1 gene is mutated in dopa-responsive dystonia DYT5.	72	98	27	idiopathic torsion dystonia	textual	C0013423	Dystonia Musculorum Deformans			
89	10737119	9	Mutations in a gene coding for an ATP-binding protein were detected in idiopathic torsion dystonia (DYT1), and the GTP cyclohydrolase 1 gene is mutated in dopa-responsive dystonia DYT5.	156	179	24	dopa-responsive dystonia	textual - Was not annotated		DYSTONIA, DOPA-RESPONSIVE	C1851920		
89	10737119	9	Mutations in a gene coding for an ATP-binding protein were detected in idiopathic torsion dystonia (DYT1), and the GTP cyclohydrolase 1 gene is mutated in dopa-responsive dystonia DYT5.	181	184	4	DYT5	textual - Was not annotated		DYSTONIA, DOPA-RESPONSIVE	C1851920		
90	10737981	1	GM1-gangliosidosis is a lysosomal storage disorder caused by deficiency of acid beta-galactosidase GLB1.	1	18	18	GM1-gangliosidosis	textual	C0085131	Gangliosidosis GM1			
90	10737981	1	GM1-gangliosidosis is a lysosomal storage disorder caused by deficiency of acid beta-galactosidase GLB1.	25	50	26	lysosomal storage disorder	textual	C0085078	Lysosomal Storage Diseases			
90	10737981	1	GM1-gangliosidosis is a lysosomal storage disorder caused by deficiency of acid beta-galactosidase GLB1.	62	103	42	deficiency of acid beta-galactosidase GLB1	intuitive: text mentions an enzyme deficiency of galactosidase GLB1	C0149676	Enzyme Deficiency			
91	10766245	1	The rare diseases ataxia-telangiectasia (AT), caused by mutations in the ATM gene, and Nijmegen breakage syndrome (NBS), with mutations in the p95/nbs1 gene, share a variety of phenotypic abnormalities such as chromosomal instability, radiation sensitivity and defects in cell-cycle checkpoints in response to ionizing radiation.	42	43	2	AT	textual - provides UMLS code, however, also provides 7 other UMLS codes	C0004135	Ataxia Telangiectasia			
91	10766245	1	The rare diseases ataxia-telangiectasia (AT), caused by mutations in the ATM gene, and Nijmegen breakage syndrome (NBS), with mutations in the p95/nbs1 gene, share a variety of phenotypic abnormalities such as chromosomal instability, radiation sensitivity and defects in cell-cycle checkpoints in response to ionizing radiation.	116	118	3	NBS	textual - provides UMLS code, however, also provides 5 other UMLS codes	C0398791	Nijmegen Breakage Syndrome			
91	10766245	1	The rare diseases ataxia-telangiectasia (AT), caused by mutations in the ATM gene, and Nijmegen breakage syndrome (NBS), with mutations in the p95/nbs1 gene, share a variety of phenotypic abnormalities such as chromosomal instability, radiation sensitivity and defects in cell-cycle checkpoints in response to ionizing radiation.	211	233	23	chromosomal instability	textual	C1257806	Chromosomal Instability			
91	10766245	1	The rare diseases ataxia-telangiectasia (AT), caused by mutations in the ATM gene, and Nijmegen breakage syndrome (NBS), with mutations in the p95/nbs1 gene, share a variety of phenotypic abnormalities such as chromosomal instability, radiation sensitivity and defects in cell-cycle checkpoints in response to ionizing radiation.	19	39	21	ataxia-telangiectasia	textual	C0004135	Ataxia Telangiectasia			
91	10766245	1	The rare diseases ataxia-telangiectasia (AT), caused by mutations in the ATM gene, and Nijmegen breakage syndrome (NBS), with mutations in the p95/nbs1 gene, share a variety of phenotypic abnormalities such as chromosomal instability, radiation sensitivity and defects in cell-cycle checkpoints in response to ionizing radiation.	88	113	26	Nijmegen breakage syndrome	textual	C0398791	Nijmegen Breakage Syndrome			
92	10767343	1	Myotonic dystrophy (DM) is caused by a CTG repeat expansion in the 3'UTR of the DM protein kinase (DMPK) gene.	21	22	2	DM	textual - search yields 1 of 2 UMLS codes (C0027126), however, also provides 8 other UMLS codes	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
92	10767343	1	Myotonic dystrophy (DM) is caused by a CTG repeat expansion in the 3'UTR of the DM protein kinase (DMPK) gene.	1	18	18	Myotonic dystrophy	textual - search yields 1 of 2 UMLS codes (C0027126).  The second code has to do with muscular dystrophy and must be searched intuitively.	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
93	10777718	1	Type 1 Gaucher disease (GD), a non-neuronopathic lysosomal storage disorder, results from the deficient activity of acid beta-glucosidase GBA.	25	26	2	GD	intuitve 	C1961835	Gaucher Disease, Type 1			
93	10777718	1	Type 1 Gaucher disease (GD), a non-neuronopathic lysosomal storage disorder, results from the deficient activity of acid beta-glucosidase GBA.	1	22	22	Type 1 Gaucher disease	textual - Was not annotated, in fact the annotation provided yielded no results in a Metathesaurus search.	C1961835	Gaucher Disease, Type 1			
93	10777718	1	Type 1 Gaucher disease (GD), a non-neuronopathic lysosomal storage disorder, results from the deficient activity of acid beta-glucosidase GBA.	50	75	26	lysosomal storage disorder	textual	C0085078	Lysosomal Storage Diseases			
93	10777718	1	Type 1 Gaucher disease (GD), a non-neuronopathic lysosomal storage disorder, results from the deficient activity of acid beta-glucosidase GBA.	95	141	47	deficient activity of acid beta-glucosidase GBA	intuitive - text mentions an enzyme deficiency of acid beta-glucosidase GBA	C0149676	Enzyme Deficiency			
94	107868	5	These findings are interpreted as suggesting some degree of clinical and genetic heterogeneity in ankylosing spondylitis with genes for psoriasis and inflammatory bowel disease being important in some individuals, particularly those who are B27 negative.	99	120	22	ankylosing spondylitis	textual	C0038013	Ankylosing spondylitis			
94	107868	5	These findings are interpreted as suggesting some degree of clinical and genetic heterogeneity in ankylosing spondylitis with genes for psoriasis and inflammatory bowel disease being important in some individuals, particularly those who are B27 negative.	137	145	9	psoriasis	textual	C0033860	Psoriasis			
94	107868	5	These findings are interpreted as suggesting some degree of clinical and genetic heterogeneity in ankylosing spondylitis with genes for psoriasis and inflammatory bowel disease being important in some individuals, particularly those who are B27 negative.	151	176	26	inflammatory bowel disease	textual	C0021390	Inflammatory Bowel Diseases			
95	107868	8	Of 13 B27 positive fathers 3 could be diagnosed as having definite ankylosing spondylitis 23%.	68	89	22	ankylosing spondylitis	textual	C0038013	Ankylosing spondylitis			
96	10788334	8	BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only.	63	76	14	ovarian cancer	textual - Search yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
96	10788334	8	BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only.	116	140	25	breast and ovarian cancer	intuitive - List is present, must search for "breast cancer" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
96	10788334	8	BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only.	127	140	14	ovarian cancer	textual - Search yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
96	10788334	8	BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only.	174	186	13	breast cancer	textual - yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast			
97	10790204	3	All patients had the severe childhood form of VLCAD deficiency with early onset and high mortality.	47	62	16	VLCAD deficiency	textual - was not annotated, no annotation was provided		Very long chain acyl-CoA dehydrogenase deficiency	C0342784		
98	10802667	1	Expansion of a CTG trinucleotide repeat in the 3' UTR of the gene DMPK at the DM1 locus on chromosome 19 causes myotonic dystrophy, a dominantly inherited disease characterized by skeletal muscle dystrophy and myotonia, cataracts and cardiac conduction defects.	113	130	18	myotonic dystrophy	textual - search yields 1 of 2 UMLS codes (C0027126).  The second code has to do with muscular dystrophy and must be searched intuitively.	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
98	10802667	1	Expansion of a CTG trinucleotide repeat in the 3' UTR of the gene DMPK at the DM1 locus on chromosome 19 causes myotonic dystrophy, a dominantly inherited disease characterized by skeletal muscle dystrophy and myotonia, cataracts and cardiac conduction defects.	190	205	16	muscle dystrophy	textual - was not annotated	C0026850	Muscular Dystrophy			
98	10802667	1	Expansion of a CTG trinucleotide repeat in the 3' UTR of the gene DMPK at the DM1 locus on chromosome 19 causes myotonic dystrophy, a dominantly inherited disease characterized by skeletal muscle dystrophy and myotonia, cataracts and cardiac conduction defects.	211	218	8	myotonia	textual - was not annotated		Myotonia	C0027125		
98	10802667	1	Expansion of a CTG trinucleotide repeat in the 3' UTR of the gene DMPK at the DM1 locus on chromosome 19 causes myotonic dystrophy, a dominantly inherited disease characterized by skeletal muscle dystrophy and myotonia, cataracts and cardiac conduction defects.	221	229	9	cataracts	textual - provides 1 of 2 UMLS codes (C0086543). The code for congenital cataracts must be found intuitively since the text is talking about inherited diseases.	T0000006 - C0086543, C0009691	cataract - Congenital cataracts			
98	10802667	1	Expansion of a CTG trinucleotide repeat in the 3' UTR of the gene DMPK at the DM1 locus on chromosome 19 causes myotonic dystrophy, a dominantly inherited disease characterized by skeletal muscle dystrophy and myotonia, cataracts and cardiac conduction defects.	221	229	9	cataracts	intuitive: must be found intuitively. UMLS code is for Myotonic cataract, which I believe are cataracts that are associated with myotonic dystrophy.	C0027128	Myotonic cataract			
98	10802667	1	Expansion of a CTG trinucleotide repeat in the 3' UTR of the gene DMPK at the DM1 locus on chromosome 19 causes myotonic dystrophy, a dominantly inherited disease characterized by skeletal muscle dystrophy and myotonia, cataracts and cardiac conduction defects.	235	260	26	cardiac conduction defects	textual	C0264886	Conduction disorder of the heart			
99	10802667	2	Targeted deletion of Dm15, the mouse orthologue of human DMPK, produced mice with a mild myopathy and cardiac conduction abnormalities, but without other features of myotonic dystrophy, such as myotonia and cataracts.	90	97	8	myopathy	textual - was not annotated		Myopathy	C0026848		
99	10802667	2	Targeted deletion of Dm15, the mouse orthologue of human DMPK, produced mice with a mild myopathy and cardiac conduction abnormalities, but without other features of myotonic dystrophy, such as myotonia and cataracts.	103	134	32	cardiac conduction abnormalities	textual	C0264886	Conduction disorder of the heart			
99	10802667	2	Targeted deletion of Dm15, the mouse orthologue of human DMPK, produced mice with a mild myopathy and cardiac conduction abnormalities, but without other features of myotonic dystrophy, such as myotonia and cataracts.	167	184	18	myotonic dystrophy	textual - search yields 1 of 2 UMLS codes (C0027126).  The second code has to do with muscular dystrophy and must be searched intuitively.	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
99	10802667	2	Targeted deletion of Dm15, the mouse orthologue of human DMPK, produced mice with a mild myopathy and cardiac conduction abnormalities, but without other features of myotonic dystrophy, such as myotonia and cataracts.	195	202	8	myotonia	textual - was not annotated		Myotonia	C0027125		
99	10802667	2	Targeted deletion of Dm15, the mouse orthologue of human DMPK, produced mice with a mild myopathy and cardiac conduction abnormalities, but without other features of myotonic dystrophy, such as myotonia and cataracts.	208	216	9	cataracts	textual - provides 1 of 2 UMLS codes (C0086543). The code for congenital cataracts must be found intuitively since the pubmed article is talking about inherited diseases.  This query also yields one other UMLS code for "cataract event	T0000006 - C0086543, C0009691	cataract - Congenital cataracts			
100	10802669	1	Mutations in the gene ATM are responsible for the genetic disorder ataxia-telangiectasia (A-T), which is characterized by cerebellar dysfunction, radiosensitivity, chromosomal instability and cancer predisposition.	91	93	3	A-T	textual - provides Wrong UMLS code	C0004135	Ataxia Telangiectasia			
100	10802669	1	Mutations in the gene ATM are responsible for the genetic disorder ataxia-telangiectasia (A-T), which is characterized by cerebellar dysfunction, radiosensitivity, chromosomal instability and cancer predisposition.	68	88	21	ataxia-telangiectasia	textual	C0004135	Ataxia Telangiectasia			
100	10802669	1	Mutations in the gene ATM are responsible for the genetic disorder ataxia-telangiectasia (A-T), which is characterized by cerebellar dysfunction, radiosensitivity, chromosomal instability and cancer predisposition.	123	144	22	cerebellar dysfunction	textual	C0007760	Cerebellar Diseases			
100	10802669	1	Mutations in the gene ATM are responsible for the genetic disorder ataxia-telangiectasia (A-T), which is characterized by cerebellar dysfunction, radiosensitivity, chromosomal instability and cancer predisposition.	165	187	23	chromosomal instability	textual	C1257806	Chromosomal Instability			
101	10807385	1	CONTEXT: Most hereditary ovarian cancers are associated with germline mutations in BRCA1 or BRCA2.	26	40	15	ovarian cancers	textual - "ovarian cancer" yields both UMLS codes.	T0000018 - C0029925,C1140680	Ovarian Carcinoma - Group name			
102	10827108	2	Mutations and duplications of this gene are associated with Pelizaeus-Merzbacher disease PMD.	90	92	3	PMD	textual - yields 1 of 2 UMLS codes (C0205711).  Does not yield code C0751916 for Classic Pelizaeus-Merzbacher Disease. However, it also provides 2 other codes	T0000004 - C0751916, C0205711	Classic Pelizaeus-Merzbacher Disease, Pelizaeus-Merzbacher disease, connatal variant			
102	10827108	2	Mutations and duplications of this gene are associated with Pelizaeus-Merzbacher disease PMD.	61	88	28	Pelizaeus-Merzbacher disease	textual - yields 1 of 2 UMLS codes (C0205711).  Does not yield code C0751916 for Classic Pelizaeus-Merzbacher Disease.	T0000004 - C0751916, C0205711	Classic Pelizaeus-Merzbacher Disease, Pelizaeus-Merzbacher disease, connatal variant			
103	10861298	2	Mutations in this gene are responsible for Pendred syndrome and autosomal recessive non-syndromic hearing loss at the DFNB4 locus on chromosome 7q31.	44	59	16	Pendred syndrome	textual	C0271829	Pendred`s syndrome			
103	10861298	2	Mutations in this gene are responsible for Pendred syndrome and autosomal recessive non-syndromic hearing loss at the DFNB4 locus on chromosome 7q31.	65	83	19	autosomal recessive	intuitive: the hearing loss is autosomal recessive, thus there is an "autosomal recessive hereditary disorder	C0265388	Autosomal recessive hereditary disorder			
103	10861298	2	Mutations in this gene are responsible for Pendred syndrome and autosomal recessive non-syndromic hearing loss at the DFNB4 locus on chromosome 7q31.	99	110	12	hearing loss	textual - yields UMLS code C1384666 for hearing impairment, C0260662 is the code for the more general "Hearing Problem" and must be found intuitively	T0000017 - C0260662,C1384666	Hearing problem, hearing impairment			
104	10861298	4	To determine whether PDS mutations in individuals with Pendred syndrome differ functionally from PDS mutations in individuals with non-syndromic hearing loss, we compared three common Pendred syndrome allele variants (L236P, T416P and E384G), with three PDS mutations reported only in individuals with non-syndromic hearing loss V480D, V653A and I490L/G497S.	56	71	16	Pendred syndrome	textual	C0271829	Pendred`s syndrome			
104	10861298	4	To determine whether PDS mutations in individuals with Pendred syndrome differ functionally from PDS mutations in individuals with non-syndromic hearing loss, we compared three common Pendred syndrome allele variants (L236P, T416P and E384G), with three PDS mutations reported only in individuals with non-syndromic hearing loss V480D, V653A and I490L/G497S.	146	157	12	hearing loss	textual - yields UMLS code C1384666 for hearing impairment, C0260662 is the code for the more general "Hearing Problem" and must be found intuitively	T0000017 - C0260662,C1384666	Hearing problem, hearing impairment			
104	10861298	4	To determine whether PDS mutations in individuals with Pendred syndrome differ functionally from PDS mutations in individuals with non-syndromic hearing loss, we compared three common Pendred syndrome allele variants (L236P, T416P and E384G), with three PDS mutations reported only in individuals with non-syndromic hearing loss V480D, V653A and I490L/G497S.	185	200	16	Pendred syndrome	textual	C0271829	Pendred`s syndrome			
104	10861298	4	To determine whether PDS mutations in individuals with Pendred syndrome differ functionally from PDS mutations in individuals with non-syndromic hearing loss, we compared three common Pendred syndrome allele variants (L236P, T416P and E384G), with three PDS mutations reported only in individuals with non-syndromic hearing loss V480D, V653A and I490L/G497S.	317	328	12	hearing loss	textual - yields UMLS code C1384666 for hearing impairment, C0260662 is the code for the more general "Hearing Problem" and must be found intuitively	T0000017 - C0260662,C1384666	Hearing problem, hearing impairment			
105	10861298	5	The mutations associated with Pendred syndrome have complete loss of pendrin-induced chloride and iodide transport, while alleles unique to people with DFNB4 are able to transport both iodide and chloride, albeit at a much lower level than wild-type pendrin.	31	46	16	Pendred syndrome	textual	C0271829	Pendred`s syndrome			
106	10875918	1	Heterozygous mutations encoding abnormal forms of the death receptor Fas dominantly interfere with Fas-induced lymphocyte apoptosis in human autoimmune lymphoproliferative syndrome.	142	180	39	autoimmune lymphoproliferative syndrome	textual	C1328840	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME			
107	10878391	1	The Wiskott-Aldrich syndrome (WAS) is caused by defects in the WAS protein (WASP) gene on the X chromosome.	31	33	3	WAS	textual - does yield correct UMLS code, however, also provides 20 other UMLS codes	C0043194	Wiskott-Aldrich Syndrome			
107	10878391	1	The Wiskott-Aldrich syndrome (WAS) is caused by defects in the WAS protein (WASP) gene on the X chromosome.	5	28	24	Wiskott-Aldrich syndrome	textual	C0043194	Wiskott-Aldrich Syndrome			
108	10891444	9	Consequently, 86% of afibrinogenemia alleles analyzed to date have truncating mutations of FGA, though mutations in all 3 fibrinogen genes, FGG, FGA, and FGB, might be predicted to cause congenital afibrinogenemia..	22	36	15	afibrinogenemia	textual	C0001733	Afibrinogenemia			
108	10891444	9	Consequently, 86% of afibrinogenemia alleles analyzed to date have truncating mutations of FGA, though mutations in all 3 fibrinogen genes, FGG, FGA, and FGB, might be predicted to cause congenital afibrinogenemia..	188	213	26	congenital afibrinogenemia	textual	C0019250	Hereditary factor I deficiency disease			
108	10891444	9	Consequently, 86% of afibrinogenemia alleles analyzed to date have truncating mutations of FGA, though mutations in all 3 fibrinogen genes, FGG, FGA, and FGB, might be predicted to cause congenital afibrinogenemia..	199	213	15	afibrinogenemia	textual	C0001733	Afibrinogenemia			
109	10943845	1	Germline mutations in the tumor suppressor gene, BRCA1, predispose individuals to breast and ovarian cancers.	83	108	26	breast and ovarian cancers	intuitive - List is present, must search for "breast cancer" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
109	10943845	1	Germline mutations in the tumor suppressor gene, BRCA1, predispose individuals to breast and ovarian cancers.	94	108	15	ovarian cancers	textual - "ovarian cancer" yields both UMLS codes.	T0000018 - C0029925,C1140680	Ovarian Carcinoma - Group name			
110	10958786	1	The axonal chemoattractant netrin-1 guides spinal commissural axons by activating its receptor DCC Deleted in Colorectal Cancer.	111	127	17	Colorectal Cancer	textual - search yields 2 out of 3 UMLS codes, does not yield C0346629	T0000016 - C0346629,C0009402,C1527249	Malignant neoplasm of large intestine - group name			
111	10976074	1	Myotonic dystrophy (DM), the most common form of muscular dystrophy in adult humans, results from expansion of a CTG repeat in the 3' untranslated region of the DMPK gene.	21	22	2	DM	textual - search yields 1 of 2 UMLS codes (C0027126), however, also provides 8 other UMLS codes	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
111	10976074	1	Myotonic dystrophy (DM), the most common form of muscular dystrophy in adult humans, results from expansion of a CTG repeat in the 3' untranslated region of the DMPK gene.	1	18	18	Myotonic dystrophy	textual - search yields 1 of 2 UMLS codes (C0027126).  The second code has to do with muscular dystrophy and must be searched intuitively.	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
111	10976074	1	Myotonic dystrophy (DM), the most common form of muscular dystrophy in adult humans, results from expansion of a CTG repeat in the 3' untranslated region of the DMPK gene.	50	67	18	muscular dystrophy	textual - was not annotated		Muscular Dystrophies	C0026850		
112	10987655	2	episodic ataxia type 2 (EA-2), familial hemiplegic migraine (FHM) and spinocerebellar ataxia 6 SCA6.	25	28	4	EA-2	textual - was not annotated, does not yield correct UMLS code	C1720416	Spinocerebellar Ataxia Type 6, Episodic ataxia			
112	10987655	2	episodic ataxia type 2 (EA-2), familial hemiplegic migraine (FHM) and spinocerebellar ataxia 6 SCA6.	62	64	3	FHM	textual - provides a UMLS code, seemingly for the same thing MIGRAINE, FAMILIAL HEMIPLEGIC, 1 [C1832894] and 1 other unrelated code.	C0338484	MIGRAINE, FAMILIAL HEMIPLEGIC, 1	C1832894		
112	10987655	2	episodic ataxia type 2 (EA-2), familial hemiplegic migraine (FHM) and spinocerebellar ataxia 6 SCA6.	96	99	4	SCA6	textual - yields 1 of 2 UMLS codes (see Notes above), C0752124.	T0000027 - C0752124,C1720189	Spinocerebellar Ataxia Type 6, Episodic ataxia			
112	10987655	2	episodic ataxia type 2 (EA-2), familial hemiplegic migraine (FHM) and spinocerebellar ataxia 6 SCA6.	1	22	22	episodic ataxia type 2	textual - was not annotated		Spinocerebellar Ataxia Type 6, Episodic ataxia	C1720416		
112	10987655	2	episodic ataxia type 2 (EA-2), familial hemiplegic migraine (FHM) and spinocerebellar ataxia 6 SCA6.	32	59	28	familial hemiplegic migraine	textual	C0338484	Familial Hemiplegic Migraine			
112	10987655	2	episodic ataxia type 2 (EA-2), familial hemiplegic migraine (FHM) and spinocerebellar ataxia 6 SCA6.	71	94	24	spinocerebellar ataxia 6	textual - yields 1 of 2 UMLS codes (see Notes above), C0752124.	T0000027 - C0752124,C1720189	Spinocerebellar Ataxia Type 6, Episodic ataxia			
113	116187	1	Pyruvate carboxylase (E.C. activity was determined in the circulating peripheral lymphocytes and cultured skin fibroblasts from the family of a patient with hepatic, cerebral, renal cortical, leukocyte, and fibroblast pyruvate carboxylase deficiency PC Portland deficiency.	219	249	31	pyruvate carboxylase deficiency	textual	C0034341	Pyruvate Carboxylase Deficiency Disease			
114	1201235	1	Screening for the G6PD deficiency was carried out at the Maternity Division of the Galliera Hospital in Genoa, Italy.	19	33	15	G6PD deficiency	textual - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency	C0017920		
115	126380	1	Ankylosing spondylitis is diagnosed once or twice in each 1000 males and one tenth as frequently in females, but the true prevalence is unknown.	1	22	22	Ankylosing spondylitis	textual	C0038013	Ankylosing spondylitis			
116	1279971	1	We have previously shown that human piebaldism results from mutations of the KIT gene, which encodes the receptor for the mast/stem cell growth factor and is located in chromosome segment 4q12.	37	46	10	piebaldism	textual	C0080024	Piebaldism			
117	1279971	2	Using DNA of a patient with piebaldism, mental retardation, and multiple congenital anomalies associated with a 46,XY,del(4) (q12q21.1) karyotype, we carried out quantitative Southern blot hybridization analyses of the KIT gene and the adjacent PDGFRA (platelet-derived growth factor receptor alpha subunit) genes.	29	38	10	piebaldism	textual	C0080024	Piebaldism			
117	1279971	2	Using DNA of a patient with piebaldism, mental retardation, and multiple congenital anomalies associated with a 46,XY,del(4) (q12q21.1) karyotype, we carried out quantitative Southern blot hybridization analyses of the KIT gene and the adjacent PDGFRA (platelet-derived growth factor receptor alpha subunit) genes.	41	58	18	mental retardation	textual	C0025362	Mental Retardation			
117	1279971	2	Using DNA of a patient with piebaldism, mental retardation, and multiple congenital anomalies associated with a 46,XY,del(4) (q12q21.1) karyotype, we carried out quantitative Southern blot hybridization analyses of the KIT gene and the adjacent PDGFRA (platelet-derived growth factor receptor alpha subunit) genes.	65	93	29	multiple congenital anomalies	textual - provides 1 of 2 UMLS codes C0000772.  The second UMLS code C0000768 can be found intuitively, as it is the singular version of the other annotated code.	T0000001 - C0000772, C0000768	Multiple congenital anomalies, Congenital Abnormality			
118	1282899	3	We report here a newly identified HPRT mutation in a Japanese patient with Lesch-Nyhan syndrome.	76	95	20	Lesch-Nyhan syndrome	textual	C0023374	Lesch-Nyhan Syndrome			
119	1301190	1	We describe three HEXA mutations associated with infantile Tay-Sachs disease (TSD) in three unrelated nonconsanguineous Chinese families.	79	81	3	TSD	textual	C0039373	Tay-Sachs Disease			
119	1301190	1	We describe three HEXA mutations associated with infantile Tay-Sachs disease (TSD) in three unrelated nonconsanguineous Chinese families.	50	76	27	infantile Tay-Sachs disease	intuitive: must search for "infantile disease" to yield the correct UMLS code	C0277560	Infantile disease			
119	1301190	1	We describe three HEXA mutations associated with infantile Tay-Sachs disease (TSD) in three unrelated nonconsanguineous Chinese families.	60	76	17	Tay-Sachs disease	textual	C0039373	Tay-Sachs Disease			
120	1301937	1	Following the birth of two infants with Tay-Sachs disease (TSD), a non-Jewish, Pennsylvania Dutch kindred was screened for TSD carriers using the biochemical assay.	60	62	3	TSD	textual	C0039373	Tay-Sachs Disease			
120	1301937	1	Following the birth of two infants with Tay-Sachs disease (TSD), a non-Jewish, Pennsylvania Dutch kindred was screened for TSD carriers using the biochemical assay.	124	126	3	TSD	textual	C0039373	Tay-Sachs Disease			
120	1301937	1	Following the birth of two infants with Tay-Sachs disease (TSD), a non-Jewish, Pennsylvania Dutch kindred was screened for TSD carriers using the biochemical assay.	41	57	17	Tay-Sachs disease	textual	C0039373	Tay-Sachs Disease			
121	1302003	1	Choroideremia (CHM) is an X-linked progressive degeneration of the choroid and retina. 12% of unrelated male patients carry deletions of the partially cloned CHM gene.	16	18	3	CHM	textual - yields correct UMLS code, also provides 1 other code	C0008525	Choroideremia			
121	1302003	1	Choroideremia (CHM) is an X-linked progressive degeneration of the choroid and retina. 12% of unrelated male patients carry deletions of the partially cloned CHM gene.	0	0	0		textual - yields correct UMLS code, also provides 1 other code	C0008525	Choroideremia			
121	1302003	1	Choroideremia (CHM) is an X-linked progressive degeneration of the choroid and retina. 12% of unrelated male patients carry deletions of the partially cloned CHM gene.	1	13	13	Choroideremia	textual	C0008525	Choroideremia			
121	1302003	1	Choroideremia (CHM) is an X-linked progressive degeneration of the choroid and retina. 12% of unrelated male patients carry deletions of the partially cloned CHM gene.	48	85	38	degeneration of the choroid and retina	intuitive: list present, UMLS code can be found by searching "degeneration of retina" or "degeneration of the retina	C0035304	Retinal Degeneration			
121	1302003	1	Choroideremia (CHM) is an X-linked progressive degeneration of the choroid and retina. 12% of unrelated male patients carry deletions of the partially cloned CHM gene.	48	74	27	degeneration of the choroid	textual	C0344297	Choroidal sclerosis			
122	1303173	5	This could be because the 68 Val--Met mutation happened to arise in an A gene in the first instance, or because the 68 Val--Met mutation alone is not sufficient to cause G6PD deficiency.	171	185	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I.  I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency	C0017920		
123	1311721	3	In neuroblastoma, higher levels of p19/nm23, which are associated with amplification of the N-myc oncogene, large tumor mass, and metastasis, were observed in advanced stage tumors compared with limited stage disease.	4	16	13	neuroblastoma	textual	C0027819	Neuroblastoma			
123	1311721	3	In neuroblastoma, higher levels of p19/nm23, which are associated with amplification of the N-myc oncogene, large tumor mass, and metastasis, were observed in advanced stage tumors compared with limited stage disease.	131	140	10	metastasis	textual	C0027627	Neoplasm Metastasis			
124	1322637	1	Infantile Tay-Sachs disease (TSD) is caused by mutations in the HEXA gene that result in the complete absence of beta-hexosaminidase A activity.	30	32	3	TSD	textual	C0039373	Tay-Sachs Disease			
124	1322637	1	Infantile Tay-Sachs disease (TSD) is caused by mutations in the HEXA gene that result in the complete absence of beta-hexosaminidase A activity.	1	27	27	Infantile Tay-Sachs disease	intuitive: must search for "infantile disease" to yield the correct UMLS code	C0277560	Infantile disease			
124	1322637	1	Infantile Tay-Sachs disease (TSD) is caused by mutations in the HEXA gene that result in the complete absence of beta-hexosaminidase A activity.	11	27	17	Tay-Sachs disease	textual	C0039373	Tay-Sachs Disease			
125	1323345	3	Ninety-four Chinese males with G6PD deficiency were studied.	32	46	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I.  I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency	C0017920		
126	1323345	5	These results show that the former five mutations account for more than 90% of G6PD deficiency cases in Taiwan.	80	94	15	G6PD deficiency	textual - was not annotated. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency".  However, a search of this yields code for Glycogen Storage Disease Type 1.		Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency - Glycogen Storage Disease Type 1	C0017920		
127	1327525	1	Patients with the Denys-Drash syndrome (Wilms' tumor, genital anomalies, and nephropathy) have been demonstrated to carry de novo constitutional mutations in WT1, the Wilms' tumor gene at chromosome 11p13.	19	38	20	Denys-Drash syndrome	textual	C0950121	Denys-Drash Syndrome			
127	1327525	1	Patients with the Denys-Drash syndrome (Wilms' tumor, genital anomalies, and nephropathy) have been demonstrated to carry de novo constitutional mutations in WT1, the Wilms' tumor gene at chromosome 11p13.	41	52	12	Wilms' tumor	textual	C0027708	Nephroblastoma			
127	1327525	1	Patients with the Denys-Drash syndrome (Wilms' tumor, genital anomalies, and nephropathy) have been demonstrated to carry de novo constitutional mutations in WT1, the Wilms' tumor gene at chromosome 11p13.	78	88	11	nephropathy	textual - was not annotated		Kidney Diseases	C0022658		
127	1327525	1	Patients with the Denys-Drash syndrome (Wilms' tumor, genital anomalies, and nephropathy) have been demonstrated to carry de novo constitutional mutations in WT1, the Wilms' tumor gene at chromosome 11p13.	168	179	12	Wilms' tumor	textual	C0027708	Nephroblastoma			
128	1327525	4	This observation indicates that the WT1 exon 9 mutation affecting 394Arg demonstrated in over one-half of the patients with the Denys-Drash syndrome may exhibit incomplete penetrance.	129	148	20	Denys-Drash syndrome	textual	C0950121	Denys-Drash Syndrome			
129	133535	1	Close linkage between HL-A and C2 deficiency was first reported by FU and co-workers in 1974.	32	44	13	C2 deficiency	textual - was not annotated yields result UMLS code for "C2 gene".  I believe the text is reffering to "Complement 2 deficiency		C2 gene, Complement 2 deficiency	C1412938, C0398756		
130	133535	5	The two HL-A haplotypes closely linked to C2 deficiency are different: 2, W18 and W24, W18.	43	55	13	C2 deficiency	textual - was not annotated yields result UMLS code for "C2 gene".  I believe the text is reffering to "Complement 2 deficiency		C2 gene, Complement 2 deficiency	C1412938, C0398756		
131	1345170	3	Using these methods, we report striking linkage disequilibrium for diastrophic dysplasia (DTD) in Finland indicating that the DTD gene should lie within 0.06 centimorgans (or about 60 kilobases) of the CSF1R gene.	91	93	3	DTD	textual - yields correct UMLS code, however, also yields 3 other UMLS codes	C0220726	Diastrophic dysplasia			
131	1345170	3	Using these methods, we report striking linkage disequilibrium for diastrophic dysplasia (DTD) in Finland indicating that the DTD gene should lie within 0.06 centimorgans (or about 60 kilobases) of the CSF1R gene.	68	88	21	diastrophic dysplasia	textual	C0220726	Diastrophic dysplasia			
132	1347968	2	To learn about causative mechanisms, we have cloned and sequenced the breakpoints of a cytologically balanced constitutional reciprocal translocation, t X;4 (p21.2;q31.22), present in a girl with Duchenne muscular dystrophy DMD.	225	227	3	DMD	textual - yields correct UMLS code, however, also yields 3 other UMLS codes	C0013264	Muscular Dystrophy, Duchenne			
132	1347968	2	To learn about causative mechanisms, we have cloned and sequenced the breakpoints of a cytologically balanced constitutional reciprocal translocation, t X;4 (p21.2;q31.22), present in a girl with Duchenne muscular dystrophy DMD.	197	223	27	Duchenne muscular dystrophy	textual	C0013264	Muscular Dystrophy, Duchenne			
133	1351034	3	Loss of heterozygosity (LOH) in the region close to the adenomatous polyposis coli (APC) gene was detected in this carcinoma, and evidence was obtained that there was a loss of the normal allele of the APC gene.	57	82	26	adenomatous polyposis coli	textual	C0032580	Adenomatous Polyposis Coli			
133	1351034	3	Loss of heterozygosity (LOH) in the region close to the adenomatous polyposis coli (APC) gene was detected in this carcinoma, and evidence was obtained that there was a loss of the normal allele of the APC gene.	116	124	9	carcinoma	textual	C0007097	Carcinoma			
134	1352883	1	The retinoblastoma-predisposition gene, RB1, segregates as an autosomal dominant trait with high (90%) penetrance.	5	18	14	retinoblastoma	textual - provides correct UMLS code, however, also provides 1 other code (the code for the gene mentioned)	C0035335	Retinoblastoma			
135	1353340	1	We report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy MLD.	111	113	3	MLD	textual - yields correct UMLS code, however, also provides 1 other code	C0023522	Leukodystrophy, Metachromatic			
135	1353340	1	We report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy MLD.	82	109	28	metachromatic leukodystrophy	textual	C0023522	Leukodystrophy, Metachromatic			
136	1357962	1	Uniparental disomy has recently been recognized to cause human disorders, including Prader-Willi syndrome PWS.	107	109	3	PWS	textual	C0032897	Prader-Willi Syndrome			
136	1357962	1	Uniparental disomy has recently been recognized to cause human disorders, including Prader-Willi syndrome PWS.	1	18	18	Uniparental disomy	textual - was not annotated		Uniparental Disomy	C0949628		
136	1357962	1	Uniparental disomy has recently been recognized to cause human disorders, including Prader-Willi syndrome PWS.	85	105	21	Prader-Willi syndrome	textual	C0032897	Prader-Willi Syndrome			
137	1358807	1	The AMELX gene located at Xp22.1-p22.3 encodes for the enamel protein amelogenin and has been implicated as the gene responsible for the inherited dental abnormality X-linked amelogenesis imperfecta XAI.	176	198	23	amelogenesis imperfecta	textual	C0002452	Amelogenesis Imperfecta			
138	1361100	1	Phenylketonuria (PKU), a disorder of amino acid metabolism prevalent among Caucasians and other ethnic groups, is caused primarily by a deficiency of the hepatic enzyme phenylalanine hydroxylase PAH.	18	20	3	PKU	textual - yields 2 of 3 UMLS codes (C0031485, C0751434).  Also yields, UMLS code for "PAH Gene	T0000019 - C1291306,C0031485, C0751434	Deficiency of phenylalanine 4-monooxygenase, Phenylketonurias, Classical phenylketonuria			
138	1361100	1	Phenylketonuria (PKU), a disorder of amino acid metabolism prevalent among Caucasians and other ethnic groups, is caused primarily by a deficiency of the hepatic enzyme phenylalanine hydroxylase PAH.	1	15	15	Phenylketonuria	textual - yields 2 of 3 UMLS codes (C0031485, C0751434).  It appears the third annotation is more specific and might be the cause of the phenylketonuria. Also yields, UMLS code for "PAH Gene	T0000019 - C1291306,C0031485, C0751434	Deficiency of phenylalanine 4-monooxygenase, Phenylketonurias, Classical phenylketonuria			
138	1361100	1	Phenylketonuria (PKU), a disorder of amino acid metabolism prevalent among Caucasians and other ethnic groups, is caused primarily by a deficiency of the hepatic enzyme phenylalanine hydroxylase PAH.	137	198	62	deficiency of the hepatic enzyme phenylalanine hydroxylase PAH	intuitive: text describes an enzyme deficieny of phenylalanine hydroxylase.  Must search for "enzyme deficiency" to yield correct UMLS code	C0149676	Enzyme Deficiency			
139	1361318	2	A family with inherited deficiency of complement factor 2 (C2) is described in which two family members with homozygous C2 deficiency developed cutaneous vasculitis and sicca syndrome.	25	57	33	deficiency of complement factor 2	textual - however, you must search for "deficiency of complement 2" to yield the correct UMLS code	C0398756	Complement 2 deficiency			
139	1361318	2	A family with inherited deficiency of complement factor 2 (C2) is described in which two family members with homozygous C2 deficiency developed cutaneous vasculitis and sicca syndrome.	121	133	13	C2 deficiency	textual - yields differenct UMLS code.  Yields code for "C2 gene" C1412938	C0398756	Complement 2 deficiency			
139	1361318	2	A family with inherited deficiency of complement factor 2 (C2) is described in which two family members with homozygous C2 deficiency developed cutaneous vasculitis and sicca syndrome.	145	164	20	cutaneous vasculitis	textual	C0262988	Vasculitis of the skin			
139	1361318	2	A family with inherited deficiency of complement factor 2 (C2) is described in which two family members with homozygous C2 deficiency developed cutaneous vasculitis and sicca syndrome.	170	183	14	sicca syndrome	textual	C0086981	Sicca Syndrome			
140	1361318	3	The other family members had heterozygous C2 deficiency and each member had the HLA-A25, B18, DR2 (w15) haplotype.	43	55	13	C2 deficiency	textual - was not annotated yields result UMLS code for "C2 gene".  I believe the text is reffering to "Complement 2 deficiency		C2 gene, Complement 2 deficiency	C1412938, C0398756		
141	1376553	1	A C--greater than G transversion has been found in exon 3 of the PLP gene of affected males and their mother in a single sibship with Pelizaeus-merzbacher disease PMD.	164	166	3	PMD	textual - yields 1 of 2 UMLS codes (C0205711).  Does not yield code C0751916 for Classic Pelizaeus-Merzbacher Disease. However, it also provides 2 other codes	T0000004 - C0751916, C0205711	Classic Pelizaeus-Merzbacher Disease, Pelizaeus-Merzbacher Disease			
141	1376553	1	A C--greater than G transversion has been found in exon 3 of the PLP gene of affected males and their mother in a single sibship with Pelizaeus-merzbacher disease PMD.	135	162	28	Pelizaeus-merzbacher disease	textual - yields 1 of 2 UMLS codes (C0205711).  Does not yield code C0751916 for Classic Pelizaeus-Merzbacher Disease.	T0000004 - C0751916, C0205711	Classic Pelizaeus-Merzbacher Disease, Pelizaeus-Merzbacher Disease			
142	1380672	3	Mutations of the X-chromosome-linked PLP gene are lethal, identified first in the jimpy mouse and subsequently in patients with Pelizaeus-Merzbacher disease.	129	156	28	Pelizaeus-Merzbacher disease	textual - yields 1 of 2 UMLS codes (C0205711).  Does not yield code C0751916 for Classic Pelizaeus-Merzbacher Disease.	T0000004 - C0751916, C0205711	Classic Pelizaeus-Merzbacher Disease, Pelizaeus-Merzbacher Disease			
143	1380672	8	We suggest that PLP has a vital function in glial cell development, distinct from its later role in myelin assembly, and that this dichotomy of action may explain the clinical spectrum of Pelizaeus-Merzbacher disease..	189	216	28	Pelizaeus-Merzbacher disease	textual - yields 1 of 2 UMLS codes (C0205711).  Does not yield code C0751916 for Classic Pelizaeus-Merzbacher Disease.	T0000004 - C0751916, C0205711	Classic Pelizaeus-Merzbacher Disease, Pelizaeus-Merzbacher Disease			
144	1384323	3	We analyzed the HEXA gene of one pseudodeficient subject and identified both a C739-to-T substitution that changes Arg247----Trp on one allele and a previously identified Tay-Sachs disease mutation on the second allele.	172	188	17	Tay-Sachs disease	textual	C0039373	Tay-Sachs Disease			
145	1384324	9	These results provide further examples of mutations in PLP that cause Pelizaeus-Merzbacher disease and illustrate the value of SSCP in genetic analysis..	71	98	28	Pelizaeus-Merzbacher disease	textual - yields 1 of 2 UMLS codes (C0205711).  Does not yield code C0751916 for Classic Pelizaeus-Merzbacher Disease.	T0000004 - C0751916, C0205711	Classic Pelizaeus-Merzbacher Disease, Pelizaeus-Merzbacher Disease			
146	1409710	3	A missense mutation, Gly-561--Ser, was identified within the proposed glycoprotein Ib binding domain of vWF in the proband with von Willebrand disease type B, a unique variant characterized by no ristocetin-induced, but normal botrocetin-induced, binding to glycoprotein Ib.	129	150	22	von Willebrand disease	textual - yields 1 of 2 UMLS codes (C0042974 - von Willebrand Disease), however, also yields 1 other code for the "VWF Gene	T0000023 - C1264039, C0042974	von Willebrand disease type 1- von Willebrand Disease			
147	1409710	6	The normal botrocetin-induced binding and the defective ristocetin-induced binding of rvWF(G561S) suggest that the primary defect in von Willebrand disease type B may be a failure of normal allosteric regulation of the glycoprotein Ib binding function of vWF..	134	155	22	von Willebrand disease	textual - yields 1 of 2 UMLS codes (C0042974 - von Willebrand Disease), however, also yields 1 other code for the "VWF Gene	T0000023 - C1264039,C0042974	von Willebrand disease type 1- von Willebrand Disease			
148	1424237	1	Three children are reported with typical cat eye syndrome (CES) and three more children with partial CES because of absence of coloboma, in which the supernumerary marker chromosome was studied by FISH.	60	62	3	CES	textual	C0265493	Cat eye syndrome			
148	1424237	1	Three children are reported with typical cat eye syndrome (CES) and three more children with partial CES because of absence of coloboma, in which the supernumerary marker chromosome was studied by FISH.	102	104	3	CES	textual	C0265493	Cat eye syndrome			
148	1424237	1	Three children are reported with typical cat eye syndrome (CES) and three more children with partial CES because of absence of coloboma, in which the supernumerary marker chromosome was studied by FISH.	42	57	16	cat eye syndrome	textual	C0265493	Cat eye syndrome			
148	1424237	1	Three children are reported with typical cat eye syndrome (CES) and three more children with partial CES because of absence of coloboma, in which the supernumerary marker chromosome was studied by FISH.	128	135	8	coloboma	textual	C0009363	Coloboma			
149	144081	1	Examination on G6PD deficiency in 349 patients of Shekii district hospital (Azerbaijan) revealed 16 hemi-, 4 homo- and 9 heterozygotic carriers of the defect.	16	30	15	G6PD deficiency	textual - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I.	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
150	144081	3	Carriers of G6PD deficiency are residents of 11 villages located in Alasani-Aphtalan valley, highly endemic with malaria in the past; nearly all marriages are endogamic.	13	27	15	G6PD deficiency	textual - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I.	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
150	144081	3	Carriers of G6PD deficiency are residents of 11 villages located in Alasani-Aphtalan valley, highly endemic with malaria in the past; nearly all marriages are endogamic.	114	120	7	malaria	textual - provides correct UMLS code, however, also provides UMLS code for "Malaria Vaccines	C0024530	Malaria			
151	1468459	1	We report on nine patients with craniofrontonasal dysplasia CFND.	61	64	4	CFND	textual	C0220767	CRANIOFRONTONASAL SYNDROME			
151	1468459	1	We report on nine patients with craniofrontonasal dysplasia CFND.	33	59	27	craniofrontonasal dysplasia	textual	C0220767	CRANIOFRONTONASAL SYNDROME			
152	1483696	1	Mutations at the hexosaminidase A (HEXA) gene which cause Tay-Sachs disease (TSD) have elevated frequency in the Ashkenazi Jewish and French-Canadian populations.	78	80	3	TSD	textual	C0039373	Tay-Sachs Disease			
152	1483696	1	Mutations at the hexosaminidase A (HEXA) gene which cause Tay-Sachs disease (TSD) have elevated frequency in the Ashkenazi Jewish and French-Canadian populations.	59	75	17	Tay-Sachs disease	textual	C0039373	Tay-Sachs Disease			
153	1505217	1	Aspartylglucosaminuria (AGU) is a recessive autosomally inherited lysosomal storage disorder due to deficiency of the enzyme aspartylglucosaminidase AGA.	25	27	3	AGU	textual - provides wrong UMLS code, yields code for "AGA gene'	C0268225	Aspartylglucosaminuria			
153	1505217	1	Aspartylglucosaminuria (AGU) is a recessive autosomally inherited lysosomal storage disorder due to deficiency of the enzyme aspartylglucosaminidase AGA.	1	22	22	Aspartylglucosaminuria	textual - provides correct UMLS code, however, also provides UMLS code for "AGA gene	C0268225	Aspartylglucosaminuria			
153	1505217	1	Aspartylglucosaminuria (AGU) is a recessive autosomally inherited lysosomal storage disorder due to deficiency of the enzyme aspartylglucosaminidase AGA.	67	92	26	lysosomal storage disorder	textual	C0085078	Lysosomal Storage Diseases			
153	1505217	1	Aspartylglucosaminuria (AGU) is a recessive autosomally inherited lysosomal storage disorder due to deficiency of the enzyme aspartylglucosaminidase AGA.	101	124	24	deficiency of the enzyme	textual	C0149676	Enzyme Deficiency			
154	1505982	1	Two distinct loci have been proposed for aniridia; AN1 for autosomal dominant aniridia on chromosome 2p and AN2 for the aniridia in the WAGR contiguous gene syndrome on chromosome 11p13.	42	49	8	aniridia	textual	C0003076	Aniridia			
154	1505982	1	Two distinct loci have been proposed for aniridia; AN1 for autosomal dominant aniridia on chromosome 2p and AN2 for the aniridia in the WAGR contiguous gene syndrome on chromosome 11p13.	60	86	27	autosomal dominant aniridia	intuititive: must search for "autosomal dominant hereditary disorder	C0265385	Autosomal dominant hereditary disorder			
154	1505982	1	Two distinct loci have been proposed for aniridia; AN1 for autosomal dominant aniridia on chromosome 2p and AN2 for the aniridia in the WAGR contiguous gene syndrome on chromosome 11p13.	79	86	8	aniridia	textual	C0003076	Aniridia			
154	1505982	1	Two distinct loci have been proposed for aniridia; AN1 for autosomal dominant aniridia on chromosome 2p and AN2 for the aniridia in the WAGR contiguous gene syndrome on chromosome 11p13.	137	165	29	WAGR contiguous gene syndrome	textual	C0206115	WAGR Syndrome			
155	1517503	2	We describe an aggressive and ultimately fatal case of PG in a patient with a congenital C7 deficiency.	79	102	24	congenital C7 deficiency	textual - must search for " congenital deficiency" to yield correct UMLS code	C0333006	Congenital deficiency			
155	1517503	2	We describe an aggressive and ultimately fatal case of PG in a patient with a congenital C7 deficiency.	90	102	13	C7 deficiency	textual - provides different UMLS code ( [C1864694 ] COMPLEMENT COMPONENT 7 DEFICIENCY) for what appears to be the same thing	C0398768	Complement 7 deficiency	[ C1864694 ] COMPLEMENT COMPONENT 7 DEFICIENCY		
156	1562739	13	The 1376 G----T mutation seems to be the dominant allele that causes G6PD deficiency in Taiwan.	70	84	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
157	1562739	16	Our studies provide the direct proof of the genetic heterogeneity of G6PD deficiency in the Chinese populations of Taiwan and the PCR/RE digestion method is suitable for simultaneous detection of the 487 G----A and 493 A----G mutations..	70	84	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
158	1577476	1	Golden retriever muscular dystrophy (GRMD) is a spontaneous, X-linked, progressively fatal disease of dogs and is also a homologue of Duchenne muscular dystrophy DMD.	163	165	3	DMD	textual - yields correct UMLS code, however, also provides 3 other UMLS codes	C0013264	Muscular Dystrophy, Duchenne			
158	1577476	1	Golden retriever muscular dystrophy (GRMD) is a spontaneous, X-linked, progressively fatal disease of dogs and is also a homologue of Duchenne muscular dystrophy DMD.	18	35	18	muscular dystrophy	textual	C0026850	Muscular Dystrophies			
158	1577476	1	Golden retriever muscular dystrophy (GRMD) is a spontaneous, X-linked, progressively fatal disease of dogs and is also a homologue of Duchenne muscular dystrophy DMD.	92	106	15	disease of dogs	textual	C0012979	Dog Diseases			
158	1577476	1	Golden retriever muscular dystrophy (GRMD) is a spontaneous, X-linked, progressively fatal disease of dogs and is also a homologue of Duchenne muscular dystrophy DMD.	135	161	27	Duchenne muscular dystrophy	textual	C0013264	Muscular Dystrophy, Duchenne			
159	1577763	3	Type I C2 deficiency was described in a family in which the C2 null allele (C2Q0) is associated with the major histocompatibility haplotype/complotype HLA-A25,B18,C2Q0,BfS,C4A4, C4B2,Drw2; this extended haplotype occurs in over 90% of C2-deficient individuals common complotype/haplotype.	8	20	13	C2 deficiency	textual - was not annotated yields result UMLS code for "C2 gene".  I believe the text is reffering to "Complement 2 deficiency		C2 gene, Complement 2 deficiency	C1412938, C0398756		*****
160	1577763	4	To determine the molecular basis of type I C2 deficiency, the C2 gene and cDNA were characterized from a homozygous type I C2-deficient individual with the common associated haplotype/complotype.	44	56	13	C2 deficiency	textual - was not annotated yields result UMLS code for "C2 gene".  I believe the text is reffering to "Complement 2 deficiency		C2 gene, Complement 2 deficiency	C1412938, C0398756		
161	1577763	7	These data demonstrate that: 1 type I human complement C2 deficiency is caused by a 28-base pair genomic deletion that causes skipping of exon 6 during RNA splicing, resulting in generation of a premature termination codon, 2 the 28-base pair deletion in the type I C2Q0 gene is strongly associated with the HLA haplotype/complotype A25,B18,C2Q0,BfS,C4A4,C4B2,Drw2, suggesting that all C2-deficient individuals with this haplotype/complotype will harbor the 28-base pair C2 gene deletion, and 3 type II C2 deficiency is caused by a different, as yet uncharacterized, molecular genetic defect..	56	68	13	C2 deficiency	textual - yields differenct UMLS code. Yields code for "C2 gene" C1412938	C0398756	Complement 2 deficiency			*****
161	1577763	7	These data demonstrate that: 1 type I human complement C2 deficiency is caused by a 28-base pair genomic deletion that causes skipping of exon 6 during RNA splicing, resulting in generation of a premature termination codon, 2 the 28-base pair deletion in the type I C2Q0 gene is strongly associated with the HLA haplotype/complotype A25,B18,C2Q0,BfS,C4A4,C4B2,Drw2, suggesting that all C2-deficient individuals with this haplotype/complotype will harbor the 28-base pair C2 gene deletion, and 3 type II C2 deficiency is caused by a different, as yet uncharacterized, molecular genetic defect..	504	516	13	C2 deficiency	textual - yields differenct UMLS code. Yields code for "C2 gene" C1412938	C0398756	Complement 2 deficiency			
162	1610789	1	We report here the molecular characterization of two galactosemia mutations, L74P and F171S, and one polymorphism, S135L, in human galactose-1-phosphate uridyltransferase GALT.	54	65	12	galactosemia	textual - only yields UMLS code C0016952 for Galactosemias, must search for "Classical galactosemia" in order to get the other UMLS code	T0000028 - C0268151,C0016952	Classical galactosemia, Galactosemias			
163	1610789	6	Our data further support the notion of molecular heterogeneity of galactosemia and suggest that galactosemia mutations and GALT polymorphisms may be useful tools in highlighting different functional domains in human GALT..	67	78	12	galactosemia	textual - only yields UMLS code C0016952 for Galactosemias, must search for "Classical galactosemia" in order to get the other UMLS code	T0000028 - C0268151,C0016952	Classical galactosemia, Galactosemias			
163	1610789	6	Our data further support the notion of molecular heterogeneity of galactosemia and suggest that galactosemia mutations and GALT polymorphisms may be useful tools in highlighting different functional domains in human GALT..	97	108	12	galactosemia	textual - only yields UMLS code C0016952 for Galactosemias, must search for "Classical galactosemia" in order to get the other UMLS code	T0000028 - C0268151,C0016952	Classical galactosemia, Galactosemias			
164	161677	2	HLA-D typing showed that 5 members typed with homozygous Dw2 typing cells from an individual with C2 deficiency but not with Dw2 typing cells from 2 individuals with normal C2.	99	111	13	C2 deficiency	textual - was not annotated yields result UMLS code for "C2 gene".  I believe the text is reffering to "Complement 2 deficiency		C2 gene, Complement 2 deficiency	C1412938, C0398756		
165	1655284	3	In ten independent cases of Denys-Drash syndrome, point mutations in the zinc finger domains of one WT1 gene copy were found.	29	48	20	Denys-Drash syndrome	textual	C0950121	Denys-Drash Syndrome			
166	1655284	8	Our results provide evidence of a direct role for WT1 in Denys-Drash syndrome and thus urogenital system development..	58	77	20	Denys-Drash syndrome	textual	C0950121	Denys-Drash Syndrome			
167	1671851	1	We have performed linkage analysis with the DNA markers DXS52 and the clotting factor VIII gene (F8C), in several large families with X-linked adrenoleukodystrophy ALD.	165	167	3	ALD	textual - yields only 1 of 2 UMLS codes (C0162309).  The abstract talks about prenatal screening, might be the reason for the neonatal annotation.  This search also yields 1 other code.	T0000003 - C0162309,C0282525	Adrenoleukodystrophy, Adrenoleukodystrophy, Neonatal			
167	1671851	1	We have performed linkage analysis with the DNA markers DXS52 and the clotting factor VIII gene (F8C), in several large families with X-linked adrenoleukodystrophy ALD.	144	163	20	adrenoleukodystrophy	textual - yields only 1 of 2 UMLS codes (C0162309).  The abstract talks about prenatal screening, might be the reason for the neonatal annotation.  This search also yields 1 other code.	T0000003 - C0162309,C0282525	Adrenoleukodystrophy, Adrenoleukodystrophy, Neonatal			
168	1671881	1	Classical phenylketonuria is an autosomal recessive disease caused by a deficiency of hepatic phenylalanine hydroxylase PAH.	11	25	15	phenylketonuria	textual - yields 2 of 3 UMLS codes, Classical phenylketonuria and phenylketonurias.  Also provides code for "PAH gene	T0000019 - C1291306, C0031485, C0751434	Deficiency of phenylalanine 4-monooxygenase, Phenylketonurias, Classical phenylketonuria			
168	1671881	1	Classical phenylketonuria is an autosomal recessive disease caused by a deficiency of hepatic phenylalanine hydroxylase PAH.	73	119	47	deficiency of hepatic phenylalanine hydroxylase	intuitive: the text states a deficiency of a specific enzyme	C0149676	Enzyme Deficiency			
169	1673289	7	A detailed 10-point map of the 4p16 region constructed from the CEPH panel provides evidence for heterogeneity in the linkage maps constructed from families segregating for Huntington disease HD.	193	194	2	HD	textual - yields correct UMLS code, however, also yield 4 others	C0020179	Huntington Disease			
169	1673289	7	A detailed 10-point map of the 4p16 region constructed from the CEPH panel provides evidence for heterogeneity in the linkage maps constructed from families segregating for Huntington disease HD.	174	191	18	Huntington disease	textual - yields correct UMLS code, however, also yields code for "HD gene	C0020179	Huntington Disease			
170	1676565	1	We report carrier identification and a prenatal diagnosis using DNA polymorphisms in 2 families with X-linked Pelizaeus-Merzbacher disease PMD.	140	142	3	PMD	textual - yields 1 of 2 UMLS codes (C0205711), however, also provides 2 other UMLS codes	T0000004 - C0751916,C0205711	Classic Pelizaeus-Merzbacher Disease, Pelizaeus-Merzbacher disease			
170	1676565	1	We report carrier identification and a prenatal diagnosis using DNA polymorphisms in 2 families with X-linked Pelizaeus-Merzbacher disease PMD.	111	138	28	Pelizaeus-Merzbacher disease	textual - yields 1 of 2 UMLS codes (C0205711)	T0000004 - C0751916,C0205711	Classic Pelizaeus-Merzbacher Disease, Pelizaeus-Merzbacher disease			
171	1678319	1	Small (100-260 kb), nested deletions were characterized in DNA from two unrelated patients with familial adenomatous polyposis coli APC.	133	135	3	APC	textual -  yields wrong UMLS code	C0032580	Adenomatous Polyposis Coli			
171	1678319	1	Small (100-260 kb), nested deletions were characterized in DNA from two unrelated patients with familial adenomatous polyposis coli APC.	106	131	26	adenomatous polyposis coli	textual	C0032580	Adenomatous Polyposis Coli			
172	1679035	1	We studied the relationship between the autosomal recessive trait familial Mediterranean fever (FMF) and the serum amyloid A (SAA) genes by comparing alleles of a highly polymorphic dinucleotide repeat and a conventional restriction fragment length polymorphism (RFLP) in the SAA gene cluster in Israeli FMF kindreds.	97	99	3	FMF	textual - yields correct UMLS code, however, also provides 1 other code	C0031069	Familial Mediterranean Fever			
172	1679035	1	We studied the relationship between the autosomal recessive trait familial Mediterranean fever (FMF) and the serum amyloid A (SAA) genes by comparing alleles of a highly polymorphic dinucleotide repeat and a conventional restriction fragment length polymorphism (RFLP) in the SAA gene cluster in Israeli FMF kindreds.	305	307	3	FMF	textual - yields correct UMLS code, however, also provides 1 other code	C0031069	Familial Mediterranean Fever			
172	1679035	1	We studied the relationship between the autosomal recessive trait familial Mediterranean fever (FMF) and the serum amyloid A (SAA) genes by comparing alleles of a highly polymorphic dinucleotide repeat and a conventional restriction fragment length polymorphism (RFLP) in the SAA gene cluster in Israeli FMF kindreds.	67	94	28	familial Mediterranean fever	textual	C0031069	Familial Mediterranean Fever			
173	1682919	1	Rearrangement of the BCL1 (B-cell lymphoma 1) region on chromosome 11q13 appears to be highly characteristic of centrocytic lymphoma and also is found infrequently in other B-cell neoplasms.	28	42	15	B-cell lymphoma	textual - was not annotated		B-Cell Lymphomas	C0079731		
173	1682919	1	Rearrangement of the BCL1 (B-cell lymphoma 1) region on chromosome 11q13 appears to be highly characteristic of centrocytic lymphoma and also is found infrequently in other B-cell neoplasms.	113	132	20	centrocytic lymphoma	textual	C1392224	lymphoma; centrocytic			
173	1682919	1	Rearrangement of the BCL1 (B-cell lymphoma 1) region on chromosome 11q13 appears to be highly characteristic of centrocytic lymphoma and also is found infrequently in other B-cell neoplasms.	174	189	16	B-cell neoplasms	textual	C1332362	B-cell neoplasm			
174	1682919	8	Thus, PRAD1 is an excellent candidate "BCL1 oncogene." Its overexpression may be a key consequence of rearrangement of the BCL1 vicinity in B-cell neoplasms and a unifying pathogenetic feature in centrocytic lymphoma..	155	170	16	B-cell neoplasms	textual	C1332362	B-cell neoplasm			
174	1682919	8	Thus, PRAD1 is an excellent candidate "BCL1 oncogene." Its overexpression may be a key consequence of rearrangement of the BCL1 vicinity in B-cell neoplasms and a unifying pathogenetic feature in centrocytic lymphoma..	197	216	20	centrocytic lymphoma	textual	C1392224	lymphoma; centrocytic			
175	1684088	1	Fragments of the arylsulfatase A (ARSA) gene from a patient with juvenile-onset metachromatic leukodystrophy (MLD) were amplified by PCR and ligated into MP13 cloning vectors.	111	113	3	MLD	textual - yields correct UMLS code, however, also provides 1 other UMLS code	C0023522	Leukodystrophy, Metachromatic			
175	1684088	1	Fragments of the arylsulfatase A (ARSA) gene from a patient with juvenile-onset metachromatic leukodystrophy (MLD) were amplified by PCR and ligated into MP13 cloning vectors.	81	108	28	metachromatic leukodystrophy	textual	C0023522	Leukodystrophy, Metachromatic			
176	1684569	1	We report on a thrombocytopenic female belonging to a pedigree with the Wiskott-Aldrich syndrome WAS.	98	100	3	WAS	textual - yields correct UMLS code, however, also yields 20 others	C0043194	Wiskott-Aldrich Syndrome			
176	1684569	1	We report on a thrombocytopenic female belonging to a pedigree with the Wiskott-Aldrich syndrome WAS.	73	96	24	Wiskott-Aldrich syndrome	textual	C0043194	Wiskott-Aldrich Syndrome			
177	1707231	1	A C-to-T transition in exon 4 of the PLP gene was found in 2 affected males and two obligate carriers in a German family with Pelizaeus-Merzbacher disease.	127	154	28	Pelizaeus-Merzbacher disease	textual - yields 1 of 2 UMLS codes (C0205711)	T0000004 - C0751916,C0205711	Classic Pelizaeus-Merzbacher Disease, Pelizaeus-Merzbacher disease			
178	1709636	1	Phenylketonuria (PKU) is an autosomal recessive disease due to deficiency of a hepatic enzyme, phenylalanine hydroxylase PAH.	18	20	3	PKU	textual - yields 2 of 3 UMLS codes, Classical phenylketonuria and phenylketonurias.  Also provides code for "PAH gene	T0000019 - C1291306, C0031485, C0751434	Deficiency of phenylalanine 4-monooxygenase, Phenylketonurias, Classical phenylketonuria			
178	1709636	1	Phenylketonuria (PKU) is an autosomal recessive disease due to deficiency of a hepatic enzyme, phenylalanine hydroxylase PAH.	1	15	15	Phenylketonuria	textual - yields 2 of 3 UMLS codes, Classical phenylketonuria and phenylketonurias.  Also provides code for "PAH gene	T0000019 - C1291306, C0031485, C0751434	Deficiency of phenylalanine 4-monooxygenase, Phenylketonurias, Classical phenylketonuria			
178	1709636	1	Phenylketonuria (PKU) is an autosomal recessive disease due to deficiency of a hepatic enzyme, phenylalanine hydroxylase PAH.	64	93	30	deficiency of a hepatic enzyme	intuitive: the text states a deficiency of a specific type of enzyme	C0149676	Enzyme Deficiency			
179	1717985	3	We identified a KIT gene mutation in a proband with classic autosomal dominant piebaldism.	61	89	29	autosomal dominant piebaldism	intuitive: this text implies that piebaldism is an "autosomal dominant hereditary disorder	C0265385	Autosomal dominant hereditary disorder			
179	1717985	3	We identified a KIT gene mutation in a proband with classic autosomal dominant piebaldism.	80	89	10	piebaldism	textual	C0080024	Piebaldism			
180	1731805	1	Normotriglyceridemic abetalipoproteinemia is a rare familial disorder characterized by an isolated deficiency of apoB-100.	22	41	20	abetalipoproteinemia	textual - yields correct UMLS code, however, also provides UMLS code for "abetalipoproteinemia (lab finding)	C0000744	Abetalipoproteinemia			
180	1731805	1	Normotriglyceridemic abetalipoproteinemia is a rare familial disorder characterized by an isolated deficiency of apoB-100.	53	69	17	familial disorder	textual	C0277558	Familial disease			
181	1733838	1	A highly informative microsatellite marker, DXS426, which maps proximal to DXS7 in the interval Xp11.4-Xp11.23, has been used to refine further the localisation of the gene for Norrie disease NDP.	178	191	14	Norrie disease	textual - was not annotated		NORRIE DISEASE	C0266526		
182	1769645	2	Because of the high frequency of these particular haplotypes in Bulgaria, Italy, and Turkey, it appears to be one of the more frequent defects in the PAH gene causing classical phenylketonuria in this part of Europe.	178	192	15	phenylketonuria	textual - yields 2 of 3 UMLS codes, Classical phenylketonuria and phenylketonurias.  Also provides code for "PAH gene	T0000019 - C1291306, C0031485, C0751434	Deficiency of phenylalanine 4-monooxygenase, Phenylketonurias, Classical phenylketonuria			
183	1776638	3	The breakpoints in the present case and in 3 previously reported 5q- patients with adenomatous polyposis coli suggest that the gene responsible for GS/or familial polyposis coli (FPC) is in the 5q22 region, a result consistent with the findings of linkage studies..	180	182	3	FPC	textual - yields Wrong UMLS code	C0032580	Adenomatous Polyposis Coli			
183	1776638	3	The breakpoints in the present case and in 3 previously reported 5q- patients with adenomatous polyposis coli suggest that the gene responsible for GS/or familial polyposis coli (FPC) is in the 5q22 region, a result consistent with the findings of linkage studies..	84	109	26	adenomatous polyposis coli	textual	C0032580	Adenomatous Polyposis Coli			
183	1776638	3	The breakpoints in the present case and in 3 previously reported 5q- patients with adenomatous polyposis coli suggest that the gene responsible for GS/or familial polyposis coli (FPC) is in the 5q22 region, a result consistent with the findings of linkage studies..	155	177	23	familial polyposis coli	textual	C0032580	Adenomatous Polyposis Coli			
184	1831007	1	A 40-year-old man with childhood-onset Tourette syndrome (TS) developed Huntington disease HD.	59	60	2	TS	textual - yields correct UMLS code, however, also yield 18 others	C0040517	Gilles de la Tourette syndrome			
184	1831007	1	A 40-year-old man with childhood-onset Tourette syndrome (TS) developed Huntington disease HD.	92	93	2	HD	textual - yields correct UMLS code, however, also yield 4 others	C0020179	Huntington Disease			
184	1831007	1	A 40-year-old man with childhood-onset Tourette syndrome (TS) developed Huntington disease HD.	40	56	17	Tourette syndrome	textual	C0040517	Gilles de la Tourette syndrome			
184	1831007	1	A 40-year-old man with childhood-onset Tourette syndrome (TS) developed Huntington disease HD.	73	90	18	Huntington disease	textual - yields correct UMLS code, however, also yields code for "HD gene	C0020179	Huntington Disease			
185	1833974	1	The rapid identification of mutations causing Tay-Sachs disease requires the capacity to readily screen the regions of the HEXA gene most likely to be affected by mutation.	47	63	17	Tay-Sachs disease	textual	C0039373	Tay-Sachs Disease			
186	1897530	1	Galactosemia is an autosomal recessive disorder of human galactose metabolism caused by deficiency of the enzyme galactose-1-phosphate uridyl transferase GALT.	1	12	12	Galactosemia	textual - only yields UMLS code C0016952 for Galactosemias, must search for "Classical galactosemia" in order to get the other UMLS code	T0000028 - C0268151,C0016952	Classical galactosemia, Galactosemias			
186	1897530	1	Galactosemia is an autosomal recessive disorder of human galactose metabolism caused by deficiency of the enzyme galactose-1-phosphate uridyl transferase GALT.	20	47	28	autosomal recessive disorder	Textual. This text is what annotation is based on. However it won't yield the annotated code, the code can only be found by querying "autosomal recessive hereditary disorder	C0265388	Autosomal recessive hereditary disorder			
186	1897530	1	Galactosemia is an autosomal recessive disorder of human galactose metabolism caused by deficiency of the enzyme galactose-1-phosphate uridyl transferase GALT.	40	77	38	disorder of human galactose metabolism	intuitive: implies a "disorder of galactose metabolism" in humans, must remove "human" from the query	C0342745	Disorder of galactose metabolism			
187	1937471	3	To determine the genetic basis for reduction or loss of enzyme activity, we have amplified and sequenced the coding region of HPRT cDNA from four patients: one with Lesch-Nyhan syndrome (HPRTPerth) and three with partial deficiencies of HPRT activity, which have been designated HPRTUrangan, HPRTSwan and HPRTToowong.	166	185	20	Lesch-Nyhan syndrome	textual	C0023374	Lesch-Nyhan Syndrome			
188	1939657	1	We have previously described a disorder, normotriglyceridemic abetalipoproteinemia, that is characterized by the virtual absence of plasma low density lipoproteins and complete absence of apoB-100, but with apparently normal secretion of triglyceride-rich lipoproteins containing apoB-48.	63	82	20	abetalipoproteinemia	textual - yields correct UMLS code, however, also provides UMLS code for "abetalipoproteinemia (lab finding)	C0000744	Abetalipoproteinemia			
189	1968617	1	Phenylketonuria (PKU) is a metabolic disease caused by recessive mutations of the gene encoding the hepatic enzyme phenylalanine hydroxylase PAH.	18	20	3	PKU	textual - yields 2 of 3 UMLS codes, Classical phenylketonuria and phenylketonurias.  Also provides code for "PAH gene	T0000019 - C1291306, C0031485, C0751434	Deficiency of phenylalanine 4-monooxygenase, Phenylketonurias, Classical phenylketonuria			
189	1968617	1	Phenylketonuria (PKU) is a metabolic disease caused by recessive mutations of the gene encoding the hepatic enzyme phenylalanine hydroxylase PAH.	1	15	15	Phenylketonuria	textual - yields 2 of 3 UMLS codes, Classical phenylketonuria and phenylketonurias.  Also provides code for "PAH gene	T0000019 - C1291306, C0031485, C0751434	Deficiency of phenylalanine 4-monooxygenase, Phenylketonurias, Classical phenylketonuria			
189	1968617	1	Phenylketonuria (PKU) is a metabolic disease caused by recessive mutations of the gene encoding the hepatic enzyme phenylalanine hydroxylase PAH.	28	44	17	metabolic disease	textual	C0025517	Metabolic Diseases			*****
189	1968617	1	Phenylketonuria (PKU) is a metabolic disease caused by recessive mutations of the gene encoding the hepatic enzyme phenylalanine hydroxylase PAH.	46	114	69	caused by recessive mutations of the gene encoding the hepatic enzyme	intuitive: annotators must of taken this text to mean a deficiency in the enzyme	C0149676	Enzyme Deficiency			
190	1973404	1	Aspartylglucosaminuria (AGU) is caused by deficient activity of the enzyme aspartylglucosaminidase AGA.	25	27	3	AGU	textual - provides wrong UMLS code, yields code for "AGA gene'	C0268225	Aspartylglucosaminuria			
190	1973404	1	Aspartylglucosaminuria (AGU) is caused by deficient activity of the enzyme aspartylglucosaminidase AGA.	1	22	22	Aspartylglucosaminuria	textual - provides correct UMLS code, however, also provides UMLS code for "AGA gene	C0268225	Aspartylglucosaminuria			
191	1975560	1	We have studied the genetic linkage of two markers, the apolipoprotein C1 (APOC1) gene and a cytochrome P450 (CYP2A) gene, in relation to the gene for myotonic dystrophy DM.	171	172	2	DM	textual - search yields 1 of 2 UMLS codes (C0027126), however, also provides 8 other UMLS codes	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
191	1975560	1	We have studied the genetic linkage of two markers, the apolipoprotein C1 (APOC1) gene and a cytochrome P450 (CYP2A) gene, in relation to the gene for myotonic dystrophy DM.	152	169	18	myotonic dystrophy	textual - search yields 1 of 2 UMLS codes (C0027126).  The second code has to do with muscular dystrophy and must be searched intuitively.	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
192	1978564	8	These data not only allow use of flanking markers for presymptomatic diagnosis of FAP but also provide a high-density map of the region for isolation of the APC gene itself and for further assessment of the role of chromosome 5 deletions in the biology of sporadic colorectal cancer..	266	282	17	colorectal cancer	textual - search yields 2 out of 3 UMLS codes, does not yield C0346629	T0000016 - C0346629,C0009402,C1527249	Malignant neoplasm of large intestine - group name			
193	1981994	1	Two recent studies have suggested the involvement of serum amyloid A (SAA) and P (APCS) genes in familial Mediterranean fever MEF.	127	129	3	MEF	textual - yields Wrong  UMLS code	C0031069	Familial Mediterranean Fever			
193	1981994	1	Two recent studies have suggested the involvement of serum amyloid A (SAA) and P (APCS) genes in familial Mediterranean fever MEF.	98	125	28	familial Mediterranean fever	textual	C0031069	Familial Mediterranean Fever			
194	1999339	4	Two other Mexican males with G6PD deficiency were found to have the same mutation.	30	44	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
195	1999552	4	To our knowledge this is the first documented case of an association between discoid lupus erythematosus and C5 deficiency..	78	104	27	discoid lupus erythematosus	textual	C0024138	Lupus Erythematosus, Discoid			
195	1999552	4	To our knowledge this is the first documented case of an association between discoid lupus erythematosus and C5 deficiency..	110	122	13	C5 deficiency	textual	C1332657	COMPLEMENT COMPONENT 5 DEFICIENCY			
196	2006152	1	A missense mutation has been identified in the human phenylalanine hydroxylase PAH; phenylalanine 4-monooxygenase; L-phenylalanine, tetrahydrobiopterin:oxygen oxidoreductase (4-hydroxylating), EC 1.14.16.1 gene in a Chinese patient with classic phenylketonuria PKU.	262	264	3	PKU	textual - yields 2 of 3 UMLS codes, Classical phenylketonuria and phenylketonurias.  Also provides code for "PAH gene	T0000019 - C1291306, C0031485, C0751434	Deficiency of phenylalanine 4-monooxygenase, Phenylketonurias, Classical phenylketonuria			
196	2006152	1	A missense mutation has been identified in the human phenylalanine hydroxylase PAH; phenylalanine 4-monooxygenase; L-phenylalanine, tetrahydrobiopterin:oxygen oxidoreductase (4-hydroxylating), EC 1.14.16.1 gene in a Chinese patient with classic phenylketonuria PKU.	3	192	190	missense mutation has been identified in the human phenylalanine hydroxylase PAH; phenylalanine 4-monooxygenase; L-phenylalanine, tetrahydrobiopterin:oxygen oxidoreductase (4-hydroxylating),	intuitive: mutation implies "enzyme deficiency" in the enzymes listed	C0149676	Enzyme Deficiency			
196	2006152	1	A missense mutation has been identified in the human phenylalanine hydroxylase PAH; phenylalanine 4-monooxygenase; L-phenylalanine, tetrahydrobiopterin:oxygen oxidoreductase (4-hydroxylating), EC 1.14.16.1 gene in a Chinese patient with classic phenylketonuria PKU.	246	260	15	phenylketonuria	textual - yields 2 of 3 UMLS codes, Classical phenylketonuria and phenylketonurias.  Also provides code for "PAH gene	T0000019 - C1291306, C0031485, C0751434	Deficiency of phenylalanine 4-monooxygenase, Phenylketonurias, Classical phenylketonuria			
197	2008213	6	We have previously cloned and sequenced a Na+/glucose cotransporter from normal human ileum and shown that this gene, SGLT1, resides on the distal q arm of chromosome 22.	0	0	0		No annotation provided					
198	2008213	8	Sequence analysis of the amplified products has revealed a single missense mutation in SGLT1 which cosegregates with the GGM phenotype and results in a complete loss of Na(+)-dependent glucose transport in Xenopus oocytes injected with this complementary RNA..	0	0	0		No annotation provided					
199	2016095	1	Interstitial cytogenetic deletions involving the paternally derived chromosome 15q11-13 have been described in patients with the Prader-Willi syndrome PWS.	152	154	3	PWS	textual	C0032897	Prader-Willi Syndrome			
199	2016095	1	Interstitial cytogenetic deletions involving the paternally derived chromosome 15q11-13 have been described in patients with the Prader-Willi syndrome PWS.	130	150	21	Prader-Willi syndrome	textual	C0032897	Prader-Willi Syndrome			
200	2037285	2	We report here the linkage relationship of the myotonic dystrophy (DM) locus to twelve of these markers as studied in 45 families with DM.	136	137	2	DM	textual - search yields 1 of 2 UMLS codes (C0027126), however, also provides 8 other UMLS codes	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
200	2037285	2	We report here the linkage relationship of the myotonic dystrophy (DM) locus to twelve of these markers as studied in 45 families with DM.	48	65	18	myotonic dystrophy	textual - search yields 1 of 2 UMLS codes (C0027126).  The second code has to do with muscular dystrophy and must be searched intuitively.	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
201	2055114	1	The human gene for histidase (histidine ammonia-lyase; HAL), the enzyme deficient in histidinemia, was assigned to human chromosome 12 by Southern blot analysis of human X mouse somatic cell hybrid DNA.	66	81	16	enzyme deficient	textual/intuitive - this text does not yield a UMLS code, however, it implies an "enzyme deficiency	C0149676	Enzyme Deficiency			
201	2055114	1	The human gene for histidase (histidine ammonia-lyase; HAL), the enzyme deficient in histidinemia, was assigned to human chromosome 12 by Southern blot analysis of human X mouse somatic cell hybrid DNA.	86	97	12	histidinemia	textual	C0220992	Deficiency of histidine ammonia-lyase			
202	2071157	4	The direct sequencing of the polymerase chain reaction-amplified product of reverse-transcribed HPRT mRNA enabled the rapid identification of the mutations found in 17 previously uncharacterized cell lines derived from patients with the Lesch-Nyhan syndrome..	238	257	20	Lesch-Nyhan syndrome	textual	C0023374	Lesch-Nyhan Syndrome			
203	2161209	1	We present a large kindred that contained patients with either adrenoleukodystrophy (ALD) or adrenomyeloneuropathy AMN.	86	88	3	ALD	textual - yields only 1 of 2 UMLS codes (C0162309).  The abstract talks about the neonatal form of adrenoleukodystrophy.  This search also yields 1 other code.	T0000003 - C0162309,C0282525	Adrenoleukodystrophy, Adrenoleukodystrophy, Neonatal			
203	2161209	1	We present a large kindred that contained patients with either adrenoleukodystrophy (ALD) or adrenomyeloneuropathy AMN.	116	118	3	AMN	textual - yields correct UMLS code, however, also yields 3 others	C1527231	Adrenomyeloneuropathy			
203	2161209	1	We present a large kindred that contained patients with either adrenoleukodystrophy (ALD) or adrenomyeloneuropathy AMN.	64	83	20	adrenoleukodystrophy	textual - yields only 1 of 2 UMLS codes (C0162309).  The abstract talks about the neonatal form of adrenoleukodystrophy.  This search also yields 1 other code.	T0000003 - C0162309,C0282525	Adrenoleukodystrophy, Adrenoleukodystrophy, Neonatal			
203	2161209	1	We present a large kindred that contained patients with either adrenoleukodystrophy (ALD) or adrenomyeloneuropathy AMN.	94	114	21	adrenomyeloneuropathy	textual	C1527231	Adrenomyeloneuropathy			
204	2180286	2	Physical examination, creatine phosphokinase levels, and muscle biopsy were consistent with Duchenne muscular dystrophy DMD.	121	123	3	DMD	textual - yields correct UMLS code, however, also yields 3 other UMLS codes	C0013264	Muscular Dystrophy, Duchenne			
204	2180286	2	Physical examination, creatine phosphokinase levels, and muscle biopsy were consistent with Duchenne muscular dystrophy DMD.	93	119	27	Duchenne muscular dystrophy	textual	C0013264	Muscular Dystrophy, Duchenne			
205	218453	1	Four cases of adrenoleukodystrophy (ALD) and one case of adrenomyeloneuropathy (AMN) have developed in a kindred over three generations demonstrating that AMN is a clinical variant of ALD.	37	39	3	ALD	textual - yields only 1 of 2 UMLS codes (C0162309). This search also yields 1 other code.	T0000003 - C0162309,C0282525	Adrenoleukodystrophy, Adrenoleukodystrophy, Neonatal			
205	218453	1	Four cases of adrenoleukodystrophy (ALD) and one case of adrenomyeloneuropathy (AMN) have developed in a kindred over three generations demonstrating that AMN is a clinical variant of ALD.	81	83	3	AMN	textual - yields correct UMLS code, however, also provides 3 others	C1527231	Adrenomyeloneuropathy			
205	218453	1	Four cases of adrenoleukodystrophy (ALD) and one case of adrenomyeloneuropathy (AMN) have developed in a kindred over three generations demonstrating that AMN is a clinical variant of ALD.	156	158	3	AMN	textual - yields correct UMLS code, however, also provides 3 others	C1527231	Adrenomyeloneuropathy			
205	218453	1	Four cases of adrenoleukodystrophy (ALD) and one case of adrenomyeloneuropathy (AMN) have developed in a kindred over three generations demonstrating that AMN is a clinical variant of ALD.	185	187	3	ALD	textual - yields only 1 of 2 UMLS codes (C0162309). This search also yields 1 other code.	T0000003 - C0162309,C0282525	Adrenoleukodystrophy, Adrenoleukodystrophy, Neonatal			
205	218453	1	Four cases of adrenoleukodystrophy (ALD) and one case of adrenomyeloneuropathy (AMN) have developed in a kindred over three generations demonstrating that AMN is a clinical variant of ALD.	15	34	20	adrenoleukodystrophy	textual - yields only 1 of 2 UMLS codes (C0162309).  This search also yields 1 other code.	T0000003 - C0162309,C0282525	Adrenoleukodystrophy, Adrenoleukodystrophy, Neonatal			
205	218453	1	Four cases of adrenoleukodystrophy (ALD) and one case of adrenomyeloneuropathy (AMN) have developed in a kindred over three generations demonstrating that AMN is a clinical variant of ALD.	58	78	21	adrenomyeloneuropathy	textual	C1527231	Adrenomyeloneuropathy			
206	2209091	1	We have previously assigned the Friedreich ataxia locus (FRDA) to chromosome 9; the current maximal lod score between FRDA and MCT112 (D9S15) is greater than 50 at a recombination fraction of theta = 0.	33	49	17	Friedreich ataxia	textual	C0016719	Friedreich Ataxia			
207	2215607	10	CETP deficiency was not found in six unrelated subjects with elevated HDL cholesterol levels who were from different parts of the United States.	1	15	15	CETP deficiency	textual - was not annotated		CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY	C1846485		
208	2215607	12	CETP deficiency appears to be a frequent cause of increased HDL levels in the population of Japan, possibly because of a founder effect.	1	15	15	CETP deficiency	textual - this text yields a specific type of protein deficiency and will not yield the annotated UMLS code	C0033626	Protein Deficiency	C1846485		
209	2215607	14	There was no evidence of premature atherosclerosis in the families with CETP deficiency.	36	50	15	atherosclerosis	textual	C0004153	Atherosclerosis			
209	2215607	14	There was no evidence of premature atherosclerosis in the families with CETP deficiency.	73	87	15	CETP deficiency	textual - was not annotated		CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY	C1846485		*****
210	2215607	15	In fact, the lipoprotein profile of persons with CETP deficiency is potentially antiatherogenic and may be associated with an increased life span..	50	64	15	CETP deficiency	textual - was not annotated		CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY	C1846485		
211	2215607	3	We recently described a Japanese family with increased HDL levels and CETP deficiency due to a splicing defect of the CETP gene.	71	85	15	CETP deficiency	textual - was not annotated		CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY	C1846485		
212	2220826	1	We recently mapped the gene for ataxia-telangiectasia group A (ATA) to chromosome 11q22-23 by linkage analysis, using the genetic markers THY1 and pYNB3.12 D11S144.	33	53	21	ataxia-telangiectasia	textual	C0004135	Ataxia Telangiectasia			
213	2241452	1	We describe the first cases, to our knowledge, of C9 deficiency in Europe that were detected in a Swiss family, of which two members--one with a complete deficiency and the other with approximately half-normal C9 levels--experienced bacterial meningitis.	51	63	13	C9 deficiency	textual - does not provide annotated UMLS code [ C0398773 ] Complement 9 deficiency, however, provides a UMLS code that appears to be a synonym [ C1852676 ] C9 DEFICIENCY. Must search for "complement 9 deficiency" to yield annotated code.	C0398773	Complement 9 deficiency	C1852676		
213	2241452	1	We describe the first cases, to our knowledge, of C9 deficiency in Europe that were detected in a Swiss family, of which two members--one with a complete deficiency and the other with approximately half-normal C9 levels--experienced bacterial meningitis.	234	253	20	bacterial meningitis	textual	C0085437	Meningitis, Bacterial			
214	2241452	5	A family study revealed complete C9 deficiency in the patient's healthy brother and half-normal C9 concentrations in his sister, his son (who also had experienced an episode of bacterial meningitis), and his niece, consistent with an inherited C9 deficiency.	34	46	13	C9 deficiency	textual - was not annotated		C9 DEFICIENCY	C1852676		
214	2241452	5	A family study revealed complete C9 deficiency in the patient's healthy brother and half-normal C9 concentrations in his sister, his son (who also had experienced an episode of bacterial meningitis), and his niece, consistent with an inherited C9 deficiency.	178	197	20	bacterial meningitis	textual - was not annotated		Meningitis, Bacterial	C0085437		
214	2241452	5	A family study revealed complete C9 deficiency in the patient's healthy brother and half-normal C9 concentrations in his sister, his son (who also had experienced an episode of bacterial meningitis), and his niece, consistent with an inherited C9 deficiency.	245	257	13	C9 deficiency	textual - was not annotated		C9 DEFICIENCY	C1852676		
215	2241452	6	This first case of recurrent meningitis in a white patient with complete C9 deficiency suggests that this complement defect may also be a risk factor for bacterial, especially neisserial, infections..	30	39	10	meningitis	textual	C0025289	Meningitis			
215	2241452	6	This first case of recurrent meningitis in a white patient with complete C9 deficiency suggests that this complement defect may also be a risk factor for bacterial, especially neisserial, infections..	74	86	13	C9 deficiency	textual - does not provide annotated UMLS code [ C0398773 ] Complement 9 deficiency, however, provides a UMLS code that appears to be a synonym [ C1852676 ] C9 DEFICIENCY. Must search for "complement 9 deficiency" to yield annotated code.	C0398773	Complement 9 deficiency			
215	2241452	6	This first case of recurrent meningitis in a white patient with complete C9 deficiency suggests that this complement defect may also be a risk factor for bacterial, especially neisserial, infections..	155	198	44	bacterial, especially neisserial, infections	intuitive: list present, must search for "bacterial infection" to yield correct UMLS code	C0004623	Bacterial Infections			
215	2241452	6	This first case of recurrent meningitis in a white patient with complete C9 deficiency suggests that this complement defect may also be a risk factor for bacterial, especially neisserial, infections..	177	198	22	neisserial, infections	intuitive:  Part of a list, a comma is present and also it is listed as "neisserial", instead of "neisseria".  Must search for "neisseria infection' to yield UMLS code	C0851883	Neisseria infection			
216	2253937	2	When used in conjunction with an existing primer set, these two multiplex reactions detect about 98% of deletions in patients with Duchenne or Becker muscular dystrophy DMD, BMD.	170	172	3	DMD	textual - yields correct UMLS code, however, also provides 3 others	C0013264	Muscular Dystrophy, Duchenne			
216	2253937	2	When used in conjunction with an existing primer set, these two multiplex reactions detect about 98% of deletions in patients with Duchenne or Becker muscular dystrophy DMD, BMD.	175	177	3	BMD	textual - yields correct UMLS code, however, also provides 4 others	C0917713	Becker Muscular Dystrophy			
216	2253937	2	When used in conjunction with an existing primer set, these two multiplex reactions detect about 98% of deletions in patients with Duchenne or Becker muscular dystrophy DMD, BMD.	132	168	37	Duchenne or Becker muscular dystrophy	intuitive: list is present, must search for "Duchenne muscular dystrophy" to yield correct UMLS code	C0013264	Muscular Dystrophy, Duchenne			
216	2253937	2	When used in conjunction with an existing primer set, these two multiplex reactions detect about 98% of deletions in patients with Duchenne or Becker muscular dystrophy DMD, BMD.	144	168	25	Becker muscular dystrophy	textual	C0917713	Becker Muscular Dystrophy			
217	2253938	3	Of these, 31 had severe G6PD deficiency, nine had mild to moderate deficiency, and three had a non-deficient electrophoretic variant.	25	39	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
218	2253938	4	The overall rate of G6PD deficiency was 2.6%.	21	35	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
219	2253938	5	The frequency of G6PD deficiency, ranging from 7.2% on the Ionian Coast to zero on the eastern side of the Lucanian Apennines, appears to be inversely related to the distance of each town examined from the Ionian Coast, suggesting that this geographic distribution may reflect, at least in part, gene flow from Greek settlers.	18	32	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
220	2253938	6	Biochemical characterization has shown that most of the G6PD deficiency in this population is accounted for by G6PD Mediterranean.	57	71	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
221	2253938	8	These data provide further evidence for the marked genetic heterogeneity of G6PD deficiency within a relatively narrow geographic area and they prove the presence in the Italian peninsula of a gene (GdA-) regarded as characteristically African..	77	91	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
222	2303408	1	To ascertain the molecular mechanism that causes murine C5 deficiency, genomic and cDNA libraries were constructed from mouse liver DNA and mRNA employing the congenic strains B10.D2/nSnJ and B10.D2/oSnJ that are sufficient and deficient for C5, respectively.	57	69	13	C5 deficiency	textual	C1332657	COMPLEMENT COMPONENT 5 DEFICIENCY			
222	2303408	1	To ascertain the molecular mechanism that causes murine C5 deficiency, genomic and cDNA libraries were constructed from mouse liver DNA and mRNA employing the congenic strains B10.D2/nSnJ and B10.D2/oSnJ that are sufficient and deficient for C5, respectively.	229	244	16	deficient for C5	textual - does not yield UMLS code	C1332657	COMPLEMENT COMPONENT 5 DEFICIENCY			
223	2303408	10	These data demonstrate that: 1 there is an identical 2-base pair deletion in an exon of the C5 gene in several different C5-deficient mouse strains; 2 the mRNA transcribed from the C5D gene retains this deletion; and 3 this mutation should result in C5 protein deficiency..	122	133	12	C5-deficient	textual - does not yield UMLS code	C1332657	COMPLEMENT COMPONENT 5 DEFICIENCY			
223	2303408	10	These data demonstrate that: 1 there is an identical 2-base pair deletion in an exon of the C5 gene in several different C5-deficient mouse strains; 2 the mRNA transcribed from the C5D gene retains this deletion; and 3 this mutation should result in C5 protein deficiency..	251	271	21	C5 protein deficiency	textual - does not yield UMLS code.  Must search for "C5 deficiency" to yield correct UMLS code	C1332657	COMPLEMENT COMPONENT 5 DEFICIENCY			
223	2303408	10	These data demonstrate that: 1 there is an identical 2-base pair deletion in an exon of the C5 gene in several different C5-deficient mouse strains; 2 the mRNA transcribed from the C5D gene retains this deletion; and 3 this mutation should result in C5 protein deficiency..	254	271	18	protein deficiency	textual	C0033626	Protein Deficiency			
224	2303408	2	Genomic fragments were isolated which correspond to PvuII and HindIII restriction fragment length polymorphisms associated with C5 deficiency.	129	141	13	C5 deficiency	textual	C1332657	COMPLEMENT COMPONENT 5 DEFICIENCY			
225	2303408	3	Sequence analyses demonstrated that each of these polymorphisms resulted from single base pair substitutions and that neither substitution would probably cause or contribute to the C5 deficiency.	182	194	13	C5 deficiency	textual	C1332657	COMPLEMENT COMPONENT 5 DEFICIENCY			
226	2309142	1	Phenylketonuria (PKU) is a genetic disorder secondary to a deficiency of hepatic phenylalanine hydroxylase PAH.	18	20	3	PKU	textual - yields 2 of 3 UMLS codes, Classical phenylketonuria and phenylketonurias.  Also provides code for "PAH gene	T0000019 - C1291306, C0031485, C0751434	Deficiency of phenylalanine 4-monooxygenase, Phenylketonurias, Classical phenylketonuria			
226	2309142	1	Phenylketonuria (PKU) is a genetic disorder secondary to a deficiency of hepatic phenylalanine hydroxylase PAH.	1	15	15	Phenylketonuria	textual - yields 2 of 3 UMLS codes, Classical phenylketonuria and phenylketonurias.  Also provides code for "PAH gene	T0000019 - C1291306, C0031485, C0751434	Deficiency of phenylalanine 4-monooxygenase, Phenylketonurias, Classical phenylketonuria			
226	2309142	1	Phenylketonuria (PKU) is a genetic disorder secondary to a deficiency of hepatic phenylalanine hydroxylase PAH.	60	106	47	deficiency of hepatic phenylalanine hydroxylase		C0149676	Enzyme Deficiency			
227	2309698	1	Although recent data established that a specific very-long-chain fatty acyl-CoA synthetase is defective in X-linked adrenoleukodystrophy (ALD), the ALD gene is still unidentified.	139	141	3	ALD	textual - yields only 1 of 2 UMLS codes (C0162309). This search also yields 1 other code.	T0000003 - C0162309,C0282525	Adrenoleukodystrophy, Adrenoleukodystrophy, Neonatal			
227	2309698	1	Although recent data established that a specific very-long-chain fatty acyl-CoA synthetase is defective in X-linked adrenoleukodystrophy (ALD), the ALD gene is still unidentified.	117	136	20	adrenoleukodystrophy	textual - yields only 1 of 2 UMLS codes (C0162309).  This search also yields 1 other code.	T0000003 - C0162309,C0282525	Adrenoleukodystrophy, Adrenoleukodystrophy, Neonatal			
228	2309698	3	Abnormal color vision has been observed in 12 of 27 patients with adrenomyeloneuropathy (AMN), a milder form of ALD.	90	92	3	AMN	textual - yields correct UMLS code, however, also provides 3 others	C1527231	Adrenomyeloneuropathy			
228	2309698	3	Abnormal color vision has been observed in 12 of 27 patients with adrenomyeloneuropathy (AMN), a milder form of ALD.	113	115	3	ALD	intuitive: abstract defines "ALD" as "adrenoleukodystrophy", yields only 1 of 2 UMLS codes (C0162309). This search also yields 1 other code.	T0000003 - C0162309,C0282525	Adrenoleukodystrophy, Adrenoleukodystrophy, Neonatal			
228	2309698	3	Abnormal color vision has been observed in 12 of 27 patients with adrenomyeloneuropathy (AMN), a milder form of ALD.	67	87	21	adrenomyeloneuropathy	textual	C1527231	Adrenomyeloneuropathy			
229	2310692	10	These observations indicated that C9 may play a critical role in haemolytic attacks in patients with PNH and that characteristic haemolysis in PNH may be tempered by coexisting C9 deficiency..	102	104	3	PNH	intuitive - abstract defines "PNH" as the abbreviation for "Paroxysmal nocturnal hemoglobinuria", yields correct UMLS code, however, also yields 3 others	C0024790	Paroxysmal nocturnal hemoglobinuria			
229	2310692	10	These observations indicated that C9 may play a critical role in haemolytic attacks in patients with PNH and that characteristic haemolysis in PNH may be tempered by coexisting C9 deficiency..	144	146	3	PNH	intuitive - abstract defines "PNH" as the abbreviation for "Paroxysmal nocturnal hemoglobinuria", yields correct UMLS code, however, also yields 3 others	C0024790	Paroxysmal nocturnal hemoglobinuria			
229	2310692	10	These observations indicated that C9 may play a critical role in haemolytic attacks in patients with PNH and that characteristic haemolysis in PNH may be tempered by coexisting C9 deficiency..	130	139	10	haemolysis	textual - yields correct UMLS code, however, also yields 3 others.	C0019054	hemolysis			
229	2310692	10	These observations indicated that C9 may play a critical role in haemolytic attacks in patients with PNH and that characteristic haemolysis in PNH may be tempered by coexisting C9 deficiency..	178	190	13	C9 deficiency	textual - does not provide annotated UMLS code [ C0398773 ] Complement 9 deficiency, however, provides a UMLS code that appears to be a synonym [ C1852676 ] C9 DEFICIENCY. Must search for "complement 9 deficiency" to yield annotated code.	C0398773	Complement 9 deficiency	C1852676		
230	2316519	1	Partial gene deletion is the major cause of mutation leading to Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy BMD.	94	96	3	DMD	textual - yields correct UMLS code, however, also provides 3 others	C0013264	Muscular Dystrophy, Duchenne			
230	2316519	1	Partial gene deletion is the major cause of mutation leading to Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy BMD.	129	131	3	BMD	textual - yields correct UMLS code, however, also provides 4 others	C0917713	Becker Muscular Dystrophy			
230	2316519	1	Partial gene deletion is the major cause of mutation leading to Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy BMD.	65	91	27	Duchenne muscular dystrophy	textual	C0013264	Muscular Dystrophy, Duchenne			
230	2316519	1	Partial gene deletion is the major cause of mutation leading to Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy BMD.	103	127	25	Becker muscular dystrophy	textual	C0917713	Becker Muscular Dystrophy			
231	23402	4	Although this association may be coincidental, it prompts further attention to the possibility that under certain circumstances G6PD deficiency may favor cataract formation.	129	143	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
231	23402	4	Although this association may be coincidental, it prompts further attention to the possibility that under certain circumstances G6PD deficiency may favor cataract formation.	155	162	8	cataract	textual - provides 1 of 2 UMLS codes (C0086543). This query also yields one other UMLS code for "cataract adverse event	T0000006 - C0086543, C0009691	cataract - Congenital cataracts			
232	2352258	4	The age incidence curves for renal cell carcinoma and cerebellar haemangioblastoma in VHL disease were compatible with a single mutation model, whereas the age incidence curves for sporadic renal cell carcinoma and cerebellar haemangioblastoma suggested a two stage mutation process.	30	49	20	renal cell carcinoma	textual - yields 1 of 2 UMLS codes ( [ C0007134 ] Renal Cell Carcinoma). I did not have the expertise to know why "Clear cell renal cell carcinoma" was annotated.	T0000007 - C0007134, C0279702	Renal Cell Carcinoma - Clear Cell Renal Cell Carcinoma			
232	2352258	4	The age incidence curves for renal cell carcinoma and cerebellar haemangioblastoma in VHL disease were compatible with a single mutation model, whereas the age incidence curves for sporadic renal cell carcinoma and cerebellar haemangioblastoma suggested a two stage mutation process.	55	82	28	cerebellar haemangioblastoma	textual	C1332900	Cerebellar hemangioblastoma			
232	2352258	4	The age incidence curves for renal cell carcinoma and cerebellar haemangioblastoma in VHL disease were compatible with a single mutation model, whereas the age incidence curves for sporadic renal cell carcinoma and cerebellar haemangioblastoma suggested a two stage mutation process.	191	210	20	renal cell carcinoma	textual - yields 1 of 2 UMLS codes ( [ C0007134 ] Renal Cell Carcinoma). I did not have the expertise to know why "Clear cell renal cell carcinoma" was annotated.	T0000007 - C0007134, C0279702	Renal Cell Carcinoma - Clear Cell Renal Cell Carcinoma			
232	2352258	4	The age incidence curves for renal cell carcinoma and cerebellar haemangioblastoma in VHL disease were compatible with a single mutation model, whereas the age incidence curves for sporadic renal cell carcinoma and cerebellar haemangioblastoma suggested a two stage mutation process.	216	243	28	cerebellar haemangioblastoma	textual	C1332900	Cerebellar hemangioblastoma			
233	2352258	6	Sporadic cerebellar haemangioblastoma and some renal cell carcinoma may arise from somatic mutations inactivating both alleles at the VHL locus..	10	37	28	cerebellar haemangioblastoma	textual - includes unique spelling with "ae" substituting for "e", yields correct code.	C1332900	Cerebellar hemangioblastoma			
233	2352258	6	Sporadic cerebellar haemangioblastoma and some renal cell carcinoma may arise from somatic mutations inactivating both alleles at the VHL locus..	48	67	20	renal cell carcinoma	textual - yields 1 of 2 UMLS codes ( [ C0007134 ] Renal Cell Carcinoma). I did not have the expertise to know why "Clear cell renal cell carcinoma" was annotated.	T0000007 - C0007134, C0279702	Renal Cell Carcinoma - Clear Cell Renal Cell Carcinoma			
234	2355960	4	We developed methods to detect the three mutations in the HEXA gene that occur with high frequency among Ashkenazi Jews: two mutations cause infantile Tay-Sachs disease, and the third causes the adult-onset form of the disease.	152	168	17	infantile Tay-Sachs disease	textual - based on craven annotation infantile was included	C0039373	Tay-Sachs Disease	C0277560 - Infantile disease		
235	2390095	10	The data suggest that the G-to-A mutation may be common in human plasma CETP deficiency.	73	87	15	CETP deficiency	textual - was not annotated		CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY	C1846485		
236	2393028	2	In many parts of the world the Mediterranean type of G6PD deficiency is prevalent.	54	68	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
237	2404853	1	We describe two brothers with identical inherited deletions of one single exon within the middle of the DMD gene; one brother has Becker muscular dystrophy diagnosed at 11 years of age, whereas the older brother is normal at 18.	131	155	25	Becker muscular dystrophy	textual	C0917713	Becker Muscular Dystrophy			
238	2450401	1	A probe for the 5' end of the Duchenne muscular dystrophy (DMD) gene was used to study expression of the gene in normal human muscle, myogenic cell cultures, and muscle from patients with DMD.	189	191	3	DMD	textual - yields correct UMLS code, however, also provides 3 others	C0013264	Muscular Dystrophy, Duchenne			
238	2450401	1	A probe for the 5' end of the Duchenne muscular dystrophy (DMD) gene was used to study expression of the gene in normal human muscle, myogenic cell cultures, and muscle from patients with DMD.	31	57	27	Duchenne muscular dystrophy	textual	C0013264	Muscular Dystrophy, Duchenne			
239	2491010	1	Eighty unrelated individuals with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) were found to have deletions in the major deletion-rich region of the DMD locus.	64	66	3	DMD	textual - yields correct UMLS code, however, also provides 3 others	C0013264	Muscular Dystrophy, Duchenne			
239	2491010	1	Eighty unrelated individuals with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) were found to have deletions in the major deletion-rich region of the DMD locus.	99	101	3	BMD	textual - yields correct UMLS code, however, also provides 4 others	C0917713	Becker Muscular Dystrophy			
239	2491010	1	Eighty unrelated individuals with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) were found to have deletions in the major deletion-rich region of the DMD locus.	35	61	27	Duchenne muscular dystrophy	textual	C0013264	Muscular Dystrophy, Duchenne			
239	2491010	1	Eighty unrelated individuals with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) were found to have deletions in the major deletion-rich region of the DMD locus.	72	96	25	Becker muscular dystrophy	textual	C0917713	Becker Muscular Dystrophy			
240	2544995	1	Chromosome translocations involving 11p13 have been associated with familial aniridia in two kindreds highlighting the chromosomal localization of the AN2 locus.	78	85	8	aniridia	textual	C0003076	Aniridia			
241	2562820	1	The gene for human apolipoprotein C2 (APOC2), situated on the proximal long arm of chromosome 19, is closely linked to the gene for the most common form of adult muscular dystrophy, myotonic dystrophy DM.	202	203	2	DM	textual - search yields 1 of 2 UMLS codes (C0027126), however, also provides 8 other UMLS codes	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
241	2562820	1	The gene for human apolipoprotein C2 (APOC2), situated on the proximal long arm of chromosome 19, is closely linked to the gene for the most common form of adult muscular dystrophy, myotonic dystrophy DM.	163	180	18	muscular dystrophy	textual - yields 1 of 2 UMLS codes (C0242007)	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
241	2562820	1	The gene for human apolipoprotein C2 (APOC2), situated on the proximal long arm of chromosome 19, is closely linked to the gene for the most common form of adult muscular dystrophy, myotonic dystrophy DM.	183	200	18	myotonic dystrophy	textual - yields 1 of 2 UMLS codes (C0027126)	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
242	2563633	5	The absence of severe phenylketonuria (PKU) in both Polynesians and Southeast Asians is consistent with the lack of PAH haplotypes 2 and 3, on which the severe PKU mutants have arisen among Caucasians..	40	42	3	PKU	textual - yields 2 of 3 UMLS codes, Classical phenylketonuria and phenylketonurias.  Also provides code for "PAH gene	T0000019 - C1291306, C0031485, C0751434	Deficiency of phenylalanine 4-monooxygenase, Phenylketonurias, Classical phenylketonuria			
242	2563633	5	The absence of severe phenylketonuria (PKU) in both Polynesians and Southeast Asians is consistent with the lack of PAH haplotypes 2 and 3, on which the severe PKU mutants have arisen among Caucasians..	161	163	3	PKU	textual - yields 2 of 3 UMLS codes, Classical phenylketonuria and phenylketonurias.  Also provides code for "PAH gene	T0000019 - C1291306, C0031485, C0751434	Deficiency of phenylalanine 4-monooxygenase, Phenylketonurias, Classical phenylketonuria			
242	2563633	5	The absence of severe phenylketonuria (PKU) in both Polynesians and Southeast Asians is consistent with the lack of PAH haplotypes 2 and 3, on which the severe PKU mutants have arisen among Caucasians..	23	37	15	phenylketonuria	textual - yields 2 of 3 UMLS codes, Classical phenylketonuria and phenylketonurias.  Also provides code for "PAH gene	T0000019 - C1291306, C0031485, C0751434	Deficiency of phenylalanine 4-monooxygenase, Phenylketonurias, Classical phenylketonuria			
243	2568588	1	The event triggering malignant proliferation in 70% of retinoblastoma tumours is loss of heterozygosity for chromosome 13q14, whereby the normal retinoblastoma gene (RB1) allele is lost and an already mutated RB1 allele remains in the tumour.	56	69	14	retinoblastoma	textual - provides correct UMLS code, however, also provides 1 other code (the code for the gene mentioned)	C0035335	Retinoblastoma			
243	2568588	1	The event triggering malignant proliferation in 70% of retinoblastoma tumours is loss of heterozygosity for chromosome 13q14, whereby the normal retinoblastoma gene (RB1) allele is lost and an already mutated RB1 allele remains in the tumour.	146	159	14	retinoblastoma	textual - provides correct UMLS code, however, also provides 1 other code (the code for the gene mentioned)	C0035335	Retinoblastoma			
244	2568588	4	We have determined the parental origin of the retained allele in nine retinoblastoma tumours from eight unrelated non-familial cases by using RB1-linked genetic markers.	71	84	14	retinoblastoma	textual - provides correct UMLS code, however, also provides 1 other code (the code for the gene mentioned, RB1)	C0035335	Retinoblastoma			
245	2568588	7	Thus, there is no evidence that the paternal RB1 allele is preferentially retained in retinoblastoma, as has been suggested to be the case in osteosarcoma.	87	100	14	retinoblastoma	textual - provides correct UMLS code, however, also provides 1 other code (the code for the gene mentioned, RB1)	C0035335	Retinoblastoma			
245	2568588	7	Thus, there is no evidence that the paternal RB1 allele is preferentially retained in retinoblastoma, as has been suggested to be the case in osteosarcoma.	143	154	12	osteosarcoma	textual - provides correct UMLS code, however, also provides UMLS code for "Bone Sarcoma" which appears to be a synonym.	C0029463	osteosarcoma	C1704327		
246	2569949	1	We have estimated the haplotype distribution of mutant and normal phenylalanine hydroxylase (PAH) alleles for 17 Turkish phenylketonuria (PKU) families: 20 normal and 27 mutated PAH alleles could be identified.	139	141	3	PKU	textual - yields 2 of 3 UMLS codes, Classical phenylketonuria and phenylketonurias.  Also provides code for "PAH gene	T0000019 - C1291306, C0031485, C0751434	Deficiency of phenylalanine 4-monooxygenase, Phenylketonurias, Classical phenylketonuria			
246	2569949	1	We have estimated the haplotype distribution of mutant and normal phenylalanine hydroxylase (PAH) alleles for 17 Turkish phenylketonuria (PKU) families: 20 normal and 27 mutated PAH alleles could be identified.	122	136	15	phenylketonuria	textual - yields 2 of 3 UMLS codes, Classical phenylketonuria and phenylketonurias.  Also provides code for "PAH gene	T0000019 - C1291306, C0031485, C0751434	Deficiency of phenylalanine 4-monooxygenase, Phenylketonurias, Classical phenylketonuria			
247	2571579	1	A total of 63 families with Huntington disease (HD) were examined for linkage between HD and G8 D4S10.	49	50	2	HD	textual - yields correct UMLS code, however, also yield 4 others	C0020179	Huntington Disease			
247	2571579	1	A total of 63 families with Huntington disease (HD) were examined for linkage between HD and G8 D4S10.	29	46	18	Huntington disease	textual - yields correct UMLS code, however, also yields code for "HD gene	C0020179	Huntington Disease			
248	2575071	1	Multipoint linkage analysis of choroideremia (TCD) and seven X chromosomal restriction fragment length polymorphisms (RFLPs) was carried out in 18 Finnish TCD families.	47	49	3	TCD	textual - yields correct UMLS code, however, also provides 2 others	C0008525	Choroideremia			
248	2575071	1	Multipoint linkage analysis of choroideremia (TCD) and seven X chromosomal restriction fragment length polymorphisms (RFLPs) was carried out in 18 Finnish TCD families.	156	158	3	TCD	textual - yields correct UMLS code, however, also provides 2 others	C0008525	Choroideremia			
248	2575071	1	Multipoint linkage analysis of choroideremia (TCD) and seven X chromosomal restriction fragment length polymorphisms (RFLPs) was carried out in 18 Finnish TCD families.	32	44	13	choroideremia	textual	C0008525	Choroideremia			
249	2575071	8	This supports the previously described hypothesis that the large Northern Finnish choroideremia pedigrees, comprising a total of over 80 living patients representing more than a fifth of all TCD patients described worldwide, carry the same mutation.	192	194	3	TCD	textual - yields correct UMLS code, however, also provides 2 others	C0008525	Choroideremia			
249	2575071	8	This supports the previously described hypothesis that the large Northern Finnish choroideremia pedigrees, comprising a total of over 80 living patients representing more than a fifth of all TCD patients described worldwide, carry the same mutation.	83	95	13	choroideremia	textual	C0008525	Choroideremia			
250	2575483	1	In a large pedigree with autosomal dominant aniridia, we found close linkage between the aniridia locus AN2 and the markers catalase (CAT) (zeta = 7.27 at theta = 0.00) and D11S151 (zeta = 3.86 at theta = 0.10) flanking the AN2 locus on 11p13.	45	52	8	aniridia	textual	C0003076	Aniridia			
250	2575483	1	In a large pedigree with autosomal dominant aniridia, we found close linkage between the aniridia locus AN2 and the markers catalase (CAT) (zeta = 7.27 at theta = 0.00) and D11S151 (zeta = 3.86 at theta = 0.10) flanking the AN2 locus on 11p13.	90	97	8	aniridia	textual	C0003076	Aniridia			
251	2575483	3	We conclude that the autosomal dominant aniridia in this family is due to a mutation at the AN2 locus on 11p13.	41	48	8	aniridia	textual	C0003076	Aniridia			
252	2591962	1	We previously reported a recombination in an individual with myotonic dystrophy (DM) which placed the markers D19S19 and APOC2 on the same side of the DM locus.	82	83	2	DM	textual - search yields 1 of 2 UMLS codes (C0027126), however, also provides 8 other UMLS codes	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
252	2591962	1	We previously reported a recombination in an individual with myotonic dystrophy (DM) which placed the markers D19S19 and APOC2 on the same side of the DM locus.	62	79	18	myotonic dystrophy	textual - yields 1 of 2 UMLS codes (C0027126)	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
253	2601691	1	Inactivation of both alleles of the RB1 gene during normal retinal development initiates the formation of a retinoblastoma (RB) tumor.	125	126	2	RB	textual - provides correct UMLS code, however, also provides 4 others	C0035335	Retinoblastoma			
253	2601691	1	Inactivation of both alleles of the RB1 gene during normal retinal development initiates the formation of a retinoblastoma (RB) tumor.	109	122	14	retinoblastoma	textual - provides correct UMLS code, however, also provides 1 other code (the code for the gene mentioned, RB1)	C0035335	Retinoblastoma			
254	2651669	2	The clinical features were similar and there were no obvious stigmata of Langer-Giedion syndrome LGS.	98	100	3	LGS	textual - yields correct UMLS code, however, also yields 3 others	C0023003	Langer-Giedion Syndrome			
254	2651669	2	The clinical features were similar and there were no obvious stigmata of Langer-Giedion syndrome LGS.	74	96	23	Langer-Giedion syndrome	textual	C0023003	Langer-Giedion Syndrome			
255	2703233	1	We have studied genetic linkage between the gene for creatine kinase muscle type (CKMM) and the gene for myotonic dystrophy DM.	125	126	2	DM	textual - search yields 1 of 2 UMLS codes (C0027126), however, also provides 8 other UMLS codes	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
255	2703233	1	We have studied genetic linkage between the gene for creatine kinase muscle type (CKMM) and the gene for myotonic dystrophy DM.	106	123	18	myotonic dystrophy	textual - search yields 1 of 2 UMLS codes (C0027126). The second code has to do with muscular dystrophy and must be searched intuitively.	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
256	2729274	1	The relationship between abnormal color vision and adrenomyeloneuropathy (AMN) was investigated in 27 AMN patients and 31 age-matched controls by using the Farnsworth-Munsell 100 Hue test.	75	77	3	AMN	textual - yields correct UMLS code, however, also yields 3 others	C1527231	Adrenomyeloneuropathy			
256	2729274	1	The relationship between abnormal color vision and adrenomyeloneuropathy (AMN) was investigated in 27 AMN patients and 31 age-matched controls by using the Farnsworth-Munsell 100 Hue test.	103	105	3	AMN	textual - yields correct UMLS code, however, also yields 3 others	C1527231	Adrenomyeloneuropathy			
256	2729274	1	The relationship between abnormal color vision and adrenomyeloneuropathy (AMN) was investigated in 27 AMN patients and 31 age-matched controls by using the Farnsworth-Munsell 100 Hue test.	52	72	21	adrenomyeloneuropathy	adrenomyeloneuropathy	C1527231	Adrenomyeloneuropathy			
257	2760209	1	We report the identification of a female patient with the X-linked recessive Lesch-Nyhan syndrome hypoxanthine phosphoribosyltransferase HPRT deficiency.	78	97	20	Lesch-Nyhan syndrome	textual	C0023374	Lesch-Nyhan Syndrome			
257	2760209	1	We report the identification of a female patient with the X-linked recessive Lesch-Nyhan syndrome hypoxanthine phosphoribosyltransferase HPRT deficiency.	138	152	15	HPRT deficiency	textual	C0023374	Lesch-Nyhan Syndrome			
258	2773936	7	Patients with the classical form (type I) and the more severely affected, connatal variant of Pelizaeus-Merzbacher disease (type II) would be predicted to display mutation at the PLP locus.	19	132	114	classical form (type I) and the more severely affected, connatal variant of Pelizaeus-Merzbacher disease (type II)	intuitive: list is present. Queries for "classic Pelizaeus-Merzbacher disease" or "Pelizaeus-Merzbacher disease " will yield the respective UMLS codes	T0000004 - C0751916,C0205711	Classic Pelizaeus-Merzbacher Disease, Pelizaeus-Merzbacher disease			
258	2773936	7	Patients with the classical form (type I) and the more severely affected, connatal variant of Pelizaeus-Merzbacher disease (type II) would be predicted to display mutation at the PLP locus.	75	122	48	connatal variant of Pelizaeus-Merzbacher disease	textual	C0393656	Pelizaeus-Merzbacher disease, connatal variant			
259	2786201	1	von Willebrand disease (vWD), the most common inherited bleeding disorder in humans, can result from either a quantitative or a qualitative defect in the adhesive glycoprotein, von Willebrand factor vWF.	25	27	3	vWD	textual - does not yield correct UMLS codes	T0000023 - C1264039,C0042974	von Willebrand disease type 1- von Willebrand Disease			
259	2786201	1	von Willebrand disease (vWD), the most common inherited bleeding disorder in humans, can result from either a quantitative or a qualitative defect in the adhesive glycoprotein, von Willebrand factor vWF.	1	22	22	von Willebrand disease	textual - yields 1 of 2 UMLS codes (C0042974 - von Willebrand Disease), however, also yields 1 other code for the "VWF Gene	T0000023 - C1264039,C0042974	von Willebrand disease type 1- von Willebrand Disease			
260	2792129	5	The relatives (parents and one sister) had half-normal levels of both immunochemically and functionally determined C7, indicating a heterozygous state for C7 deficiency..	156	168	13	C7 deficiency	textual - was not annotated		COMPLEMENT COMPONENT 7 DEFICIENCY	C1864694		
261	2817003	3	This finding, in association with 3 other instances of single breaks at 11p13 and aniridia, supports the assignment of AN2 to 11p13..	83	90	8	aniridia	textual	C0003076	Aniridia			
262	2828430	1	apoB DNA, RNA, and protein from two patients with homozygous hypobetalipoproteinemia (HBL) were evaluated and compared with normal individuals.	87	89	3	HBL	textual - yields Wrong UMLS code	C0020597	Hypobetalipoproteinemias			
262	2828430	1	apoB DNA, RNA, and protein from two patients with homozygous hypobetalipoproteinemia (HBL) were evaluated and compared with normal individuals.	62	84	23	hypobetalipoproteinemia	textual	C0020597	Hypobetalipoproteinemias			
263	2828430	7	These results are distinct from those previously noted in abetalipoproteinemia, which was characterized by an elevated level of hepatic apoB mRNA and accumulation of intracellular hepatic apoB protein..	59	78	20	abetalipoproteinemia	textual	C0000744	Abetalipoproteinemia			
264	2835825	1	Molecular analysis of an unusual patient with the Lesch-Nyhan syndrome has suggested that the mutation is due to a partial HPRT gene duplication.	51	70	20	Lesch-Nyhan syndrome	textual	C0023374	Lesch-Nyhan Syndrome			
265	2852474	7	A comparison of the clinical manifestations of the present five patients and reported CGKD or Duchenne muscular dystrophy (DMD) patients with DNA deletion suggests the existence of a certain gene responsible for gonadotropin deficiency GTD.	87	90	4	CGKD	intuitive: abstract defines "GKD" as "Glycerol Kinase Deficiency" - provides correct UMLS code, however, aslo provides 1 other	C0268418	Deficiency of glycerol kinase			
265	2852474	7	A comparison of the clinical manifestations of the present five patients and reported CGKD or Duchenne muscular dystrophy (DMD) patients with DNA deletion suggests the existence of a certain gene responsible for gonadotropin deficiency GTD.	124	126	3	DMD	textual - yields correct UMLS code, however, also provides 3 others	C0013264	Muscular Dystrophy, Duchenne			
265	2852474	7	A comparison of the clinical manifestations of the present five patients and reported CGKD or Duchenne muscular dystrophy (DMD) patients with DNA deletion suggests the existence of a certain gene responsible for gonadotropin deficiency GTD.	237	239	3	GTD	textual - yields no UMLS code	C0271623	Hypogonadotropic hypogonadism			
265	2852474	7	A comparison of the clinical manifestations of the present five patients and reported CGKD or Duchenne muscular dystrophy (DMD) patients with DNA deletion suggests the existence of a certain gene responsible for gonadotropin deficiency GTD.	95	121	27	Duchenne muscular dystrophy	textual	C0013264	Muscular Dystrophy, Duchenne			
265	2852474	7	A comparison of the clinical manifestations of the present five patients and reported CGKD or Duchenne muscular dystrophy (DMD) patients with DNA deletion suggests the existence of a certain gene responsible for gonadotropin deficiency GTD.	213	235	23	gonadotropin deficiency	textual	C0271623	Hypogonadotropic hypogonadism			
265	2852474	7	A comparison of the clinical manifestations of the present five patients and reported CGKD or Duchenne muscular dystrophy (DMD) patients with DNA deletion suggests the existence of a certain gene responsible for gonadotropin deficiency GTD.	213	235	23	gonadotropin deficiency	intuitive: text states a deficiency of a specific enzyme	C0149676	Enzyme Deficiency			
266	2862466	6	C4 phenotyping in 20 patients and in 26 parents showed that 90% and 81%, respectively, had null allotypes at either the C4A or C4B locus compared with 59% in controls, indicating that defective expression of structural genes may contribute to the observed C4 deficiency..	257	269	13	C4 deficiency	No annotation was provided.  C4 deficiency, is present in the text, however, there is no associated UMLS code					
267	2884570	1	Phenylketonuria (PKU) is an autosomal recessive human genetic disorder caused by a deficiency of hepatic phenylalanine hydroxylase PAH, phenylalanine 4-monooxygenase, EC 1.14.16.1.	18	20	3	PKU	textual - yields 2 of 3 UMLS codes, Classical phenylketonuria and phenylketonurias.  Also provides code for "PAH gene	T0000019 - C1291306, C0031485, C0751434	Deficiency of phenylalanine 4-monooxygenase, Phenylketonurias, Classical phenylketonuria			
267	2884570	1	Phenylketonuria (PKU) is an autosomal recessive human genetic disorder caused by a deficiency of hepatic phenylalanine hydroxylase PAH, phenylalanine 4-monooxygenase, EC 1.14.16.1.	1	15	15	Phenylketonuria	textual - yields 2 of 3 UMLS codes, Classical phenylketonuria and phenylketonurias.  Also provides code for "PAH gene	T0000019 - C1291306, C0031485, C0751434	Deficiency of phenylalanine 4-monooxygenase, Phenylketonurias, Classical phenylketonuria			
267	2884570	1	Phenylketonuria (PKU) is an autosomal recessive human genetic disorder caused by a deficiency of hepatic phenylalanine hydroxylase PAH, phenylalanine 4-monooxygenase, EC 1.14.16.1.	29	70	42	autosomal recessive human genetic disorder	intuitive: was not annotated.  However, it can be seen as a "autosomal recessive hereditary disorder		Autosomal recessive hereditary disorder	Autosomal recessive hereditary disorder		
267	2884570	1	Phenylketonuria (PKU) is an autosomal recessive human genetic disorder caused by a deficiency of hepatic phenylalanine hydroxylase PAH, phenylalanine 4-monooxygenase, EC 1.14.16.1.	84	130	47	deficiency of hepatic phenylalanine hydroxylase	intuitive: text states a deficiency of a specific enzyme	C0149676	Enzyme Deficiency			
268	2886237	1	Linkage studies using restriction fragment length polymorphisms were conducted in the X-linked disorder, choroideremia, designated TCD for Progressive Tapeto-Choroidal Dystrophy.	106	118	13	choroideremia	textual	C0008525	Choroideremia			
268	2886237	1	Linkage studies using restriction fragment length polymorphisms were conducted in the X-linked disorder, choroideremia, designated TCD for Progressive Tapeto-Choroidal Dystrophy.	159	177	19	Choroidal Dystrophy	textual	C0730291	Choroidal dystrophy			
269	2894613	7	Consequently, sporadic and VHL-associated forms of renal cell carcinoma might both result from alterations causing loss of function of the same 'tumour suppressor' gene on this chromosome..	52	71	20	renal cell carcinoma	textual - yields 1 of 2 UMLS codes ( [ C0007134 ] Renal Cell Carcinoma).	T0000007 - C0007134, C0279702	Renal Cell Carcinoma - Clear Cell Renal Cell Carcinoma			
270	2895982	5	Evidence for placing OCRL at Xq25 also comes from a female with Lowe syndrome and an X;3 translocation.	65	77	13	Lowe syndrome	textual	C0028860	Oculocerebrorenal Syndrome			
271	2910902	2	Previous characterization of a mutant form of HPRT, HPRTYale, from a subject with the Lesch-Nyhan syndrome revealed normal mRNA and protein concentrations, no residual catalytic activity, and cathodal migration upon PAGE.	87	106	20	Lesch-Nyhan syndrome	textual	C0023374	Lesch-Nyhan Syndrome			
272	2912069	2	G6PD deficiency in different geographical areas appears to have arisen through independent mutational events, but within the same population it may also be heterogeneous.	1	15	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
273	2912069	4	We cloned and sequenced the four G6PD variants from Sardinia and found that only two mutations are responsible for G6PD deficiency in this area: one mutation is the cause of the G6PD Seattle-like phenotype, a milder form of G6PD deficiency; the other mutation is responsible for all forms of very severe G6PD deficiency in Sardinia and, possibly, in the Mediterranean..	116	130	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
273	2912069	4	We cloned and sequenced the four G6PD variants from Sardinia and found that only two mutations are responsible for G6PD deficiency in this area: one mutation is the cause of the G6PD Seattle-like phenotype, a milder form of G6PD deficiency; the other mutation is responsible for all forms of very severe G6PD deficiency in Sardinia and, possibly, in the Mediterranean..	225	239	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
273	2912069	4	We cloned and sequenced the four G6PD variants from Sardinia and found that only two mutations are responsible for G6PD deficiency in this area: one mutation is the cause of the G6PD Seattle-like phenotype, a milder form of G6PD deficiency; the other mutation is responsible for all forms of very severe G6PD deficiency in Sardinia and, possibly, in the Mediterranean..	305	319	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
274	2912886	1	A new glucose-6-phosphate dehydrogenase (G6PD) variant with severe erythrocytic G6PD deficiency and a unique pH optimum is described in a young patient with chronic nonspherocytic hemolytic anemia (CNSHA) and familial amyloidotic polyneuropathy FAP.	199	203	5	CNSHA	textual - yields no UMLS codes	T0000021 - C0472790,C0002882	Chronic non-spherocytic hemolytic anemia - Anemia, Hemolytic, Congenital Nonspherocytic			
274	2912886	1	A new glucose-6-phosphate dehydrogenase (G6PD) variant with severe erythrocytic G6PD deficiency and a unique pH optimum is described in a young patient with chronic nonspherocytic hemolytic anemia (CNSHA) and familial amyloidotic polyneuropathy FAP.	246	248	3	FAP	textual - yields wrong UMLS codes	T0000002 - C0152025,C0751448	Polyneuropathy, Polyneuropathy, Familial			
274	2912886	1	A new glucose-6-phosphate dehydrogenase (G6PD) variant with severe erythrocytic G6PD deficiency and a unique pH optimum is described in a young patient with chronic nonspherocytic hemolytic anemia (CNSHA) and familial amyloidotic polyneuropathy FAP.	81	95	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
274	2912886	1	A new glucose-6-phosphate dehydrogenase (G6PD) variant with severe erythrocytic G6PD deficiency and a unique pH optimum is described in a young patient with chronic nonspherocytic hemolytic anemia (CNSHA) and familial amyloidotic polyneuropathy FAP.	158	196	39	chronic nonspherocytic hemolytic anemia	intuitive: must insert a hyphen and search for "chronic non-spherocytic hemolytic anemia" to yield 1 of 2 UMLS codes C0472790	T0000021 - C0472790,C0002882	Chronic non-spherocytic hemolytic anemia - Anemia, Hemolytic, Congenital Nonspherocytic			
274	2912886	1	A new glucose-6-phosphate dehydrogenase (G6PD) variant with severe erythrocytic G6PD deficiency and a unique pH optimum is described in a young patient with chronic nonspherocytic hemolytic anemia (CNSHA) and familial amyloidotic polyneuropathy FAP.	210	244	35	familial amyloidotic polyneuropathy	intuitive: must search "familial polyneuropathy" yields 1 of 2 codes C0751448	T0000002 - C0152025,C0751448	Polyneuropathy, Polyneuropathy, Familial			
274	2912886	1	A new glucose-6-phosphate dehydrogenase (G6PD) variant with severe erythrocytic G6PD deficiency and a unique pH optimum is described in a young patient with chronic nonspherocytic hemolytic anemia (CNSHA) and familial amyloidotic polyneuropathy FAP.	219	244	26	amyloidotic polyneuropathy	intuitive: must modify to "amyloid polyneuropathy" to yield correct UMLS code	C0206247	Amyloid Neuropathies			
274	2912886	1	A new glucose-6-phosphate dehydrogenase (G6PD) variant with severe erythrocytic G6PD deficiency and a unique pH optimum is described in a young patient with chronic nonspherocytic hemolytic anemia (CNSHA) and familial amyloidotic polyneuropathy FAP.	231	244	14	polyneuropathy	textual - yields 1 of 2 UMLS codes C0152025	T0000002 - C0152025,C0751448	Polyneuropathy, Polyneuropathy, Familial			
275	2927388	13	Here we used field inversion gel electrophoresis (FIGE) to construct a restriction map of approximately 1,000 kb of DNA surrounding the RB1 locus and to detect the translocation breakpoints in three retinoblastoma patients.	200	213	14	retinoblastoma	textual - was not annotated. Yields UMLS codes for Retinoblastoma [C0035335]  and RB1 gene [C0694889]		Retinoblastoma	C0035335		
276	2927388	18	The detection and mapping of the translocation breakpoints of all three retinoblastoma patients to within the putative RB1 gene substantiated the authenticity of this candidate sequence and demonstrated the utility of FIGE in detecting chromosomal rearrangements affecting this locus..	73	86	14	retinoblastoma	textual - was not annotated. Yields UMLS codes for Retinoblastoma [C0035335]  and RB1 gene [C0694889]		Retinoblastoma	C0035335		
277	2963536	6	These findings further support the association of C3 deficiency with immune-complex disease and suggest that plasma infusion may be an adjunct to antibiotic therapy in the management of severe pyogenic infections in patients with C3 deficiency..	51	63	13	C3 deficiency	textual	C1332655	C3 Deficiency			
277	2963536	6	These findings further support the association of C3 deficiency with immune-complex disease and suggest that plasma infusion may be an adjunct to antibiotic therapy in the management of severe pyogenic infections in patients with C3 deficiency..	70	91	22	immune-complex disease	textual	C0020951	Immune Complex Diseases			
277	2963536	6	These findings further support the association of C3 deficiency with immune-complex disease and suggest that plasma infusion may be an adjunct to antibiotic therapy in the management of severe pyogenic infections in patients with C3 deficiency..	194	212	19	pyogenic infections	textual	C0858906	Infection pyogenic			
277	2963536	6	These findings further support the association of C3 deficiency with immune-complex disease and suggest that plasma infusion may be an adjunct to antibiotic therapy in the management of severe pyogenic infections in patients with C3 deficiency..	231	243	13	C3 deficiency	textual	C1332655	C3 Deficiency			
278	2989709	2	A deficiency of AAT in individuals homozygous for the PI Z allele occurs in about 1 in 2,000-8,000 caucasians and is associated with an increased risk of early adult onset emphysema and liver disease in childhood.	3	19	17	deficiency of AAT	textual	C0221757	alpha 1-Antitrypsin Deficiency			
278	2989709	2	A deficiency of AAT in individuals homozygous for the PI Z allele occurs in about 1 in 2,000-8,000 caucasians and is associated with an increased risk of early adult onset emphysema and liver disease in childhood.	155	212	58	early adult onset emphysema and liver disease in childhood	intuitive: this statement is implying an "early disease onset	C0814120	early disease onset			
278	2989709	2	A deficiency of AAT in individuals homozygous for the PI Z allele occurs in about 1 in 2,000-8,000 caucasians and is associated with an increased risk of early adult onset emphysema and liver disease in childhood.	173	181	9	emphysema	textual - yields correct UMLS code, however, also yields 1 other code	C0034067	Pulmonary Emphysema			
278	2989709	2	A deficiency of AAT in individuals homozygous for the PI Z allele occurs in about 1 in 2,000-8,000 caucasians and is associated with an increased risk of early adult onset emphysema and liver disease in childhood.	187	199	13	liver disease	textual	C0023895	Liver diseases			
279	2995231	1	A DNA marker C7, localised Xp21.1-Xp21.3, has been studied in kindreds segregating for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy BMD.	117	119	3	DMD	textual - yields correct UMLS code, however, also provides 3 others	C0013264	Muscular Dystrophy, Duchenne			
279	2995231	1	A DNA marker C7, localised Xp21.1-Xp21.3, has been studied in kindreds segregating for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy BMD.	152	154	3	BMD	textual - yields correct UMLS code, however, also provides 4 others	C0917713	Becker Muscular Dystrophy			
279	2995231	1	A DNA marker C7, localised Xp21.1-Xp21.3, has been studied in kindreds segregating for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy BMD.	88	114	27	Duchenne muscular dystrophy	textual	C0013264	Muscular Dystrophy, Duchenne			
279	2995231	1	A DNA marker C7, localised Xp21.1-Xp21.3, has been studied in kindreds segregating for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy BMD.	126	150	25	Becker muscular dystrophy	textual	C0917713	Becker Muscular Dystrophy			
280	3012567	1	Flow cytometry and recombinant DNA techniques have been used to obtain reagents for a molecular analysis of the Prader-Willi syndrome PWS.	135	137	3	PWS	textual	C0032897	Prader-Willi Syndrome			
280	3012567	1	Flow cytometry and recombinant DNA techniques have been used to obtain reagents for a molecular analysis of the Prader-Willi syndrome PWS.	113	133	21	Prader-Willi syndrome	textual	C0032897	Prader-Willi Syndrome			
281	3014348	5	Here we describe the combined results of more than 20 research laboratories with respect to the occurrence of deletions at the DXS164 locus in DNA samples isolated from patients with DMD and Becker muscular dystrophy BMD.	184	186	3	DMD	textual/intuitive - yields correct UMLS code, however, also provides 3 others.  Abstract did define DMD as the abbreviation for Duchenne Muscular Dystrophy	C0013264	Muscular Dystrophy, Duchenne			
281	3014348	5	Here we describe the combined results of more than 20 research laboratories with respect to the occurrence of deletions at the DXS164 locus in DNA samples isolated from patients with DMD and Becker muscular dystrophy BMD.	218	220	3	BMD	textual - yields correct UMLS code, however, also provides 4 others	C0917713	Becker Muscular Dystrophy			
281	3014348	5	Here we describe the combined results of more than 20 research laboratories with respect to the occurrence of deletions at the DXS164 locus in DNA samples isolated from patients with DMD and Becker muscular dystrophy BMD.	192	216	25	Becker muscular dystrophy	textual	C0917713	Becker Muscular Dystrophy			
282	3029599	1	The human Lesch-Nyhan syndrome is a rare neurological and behavioural disorder, affecting only males, which is caused by an inherited deficiency in the level of activity of the purine salvage enzyme hypoxanthine-guanosine phosphoribosyl transferase HPRT.	11	30	20	Lesch-Nyhan syndrome	textual	C0023374	Lesch-Nyhan Syndrome			
282	3029599	1	The human Lesch-Nyhan syndrome is a rare neurological and behavioural disorder, affecting only males, which is caused by an inherited deficiency in the level of activity of the purine salvage enzyme hypoxanthine-guanosine phosphoribosyl transferase HPRT.	42	78	37	neurological and behavioural disorder	intuitive: list is present. A search for "neurological disorder" yields correct UMLS code	C0027765	nervous system disorder			
282	3029599	1	The human Lesch-Nyhan syndrome is a rare neurological and behavioural disorder, affecting only males, which is caused by an inherited deficiency in the level of activity of the purine salvage enzyme hypoxanthine-guanosine phosphoribosyl transferase HPRT.	59	78	20	behavioural disorder	textual - yields correct UMLS code, however, also provides UMLS code for Lifestyle-related condition [C0481391]	C0004930	Behavior Disorders	C0481391		
282	3029599	1	The human Lesch-Nyhan syndrome is a rare neurological and behavioural disorder, affecting only males, which is caused by an inherited deficiency in the level of activity of the purine salvage enzyme hypoxanthine-guanosine phosphoribosyl transferase HPRT.	135	253	119	deficiency in the level of activity of the purine salvage enzyme hypoxanthine-guanosine phosphoribosyl transferase HPRT	intuitive: statement states a deficiency of a specific type of enzyme, in this case a transferase.  Alternate, more general, annotation could be an "Enzyme Deficiency	C1291317	Deficiency of transferase	Enzyme Deficiency		
283	3029599	4	To derive an animal model for the Lesch-Nyhan syndrome, we have used cultured mouse embryonic stem cells, mutagenized by retroviral insertion and selected for loss of HPRT activity, to construct chimaeric mice.	14	54	41	animal model for the Lesch-Nyhan syndrome	intuitive: text implies a animal disease model for a specific disease.	C0012644	Animal Disease Models			
283	3029599	4	To derive an animal model for the Lesch-Nyhan syndrome, we have used cultured mouse embryonic stem cells, mutagenized by retroviral insertion and selected for loss of HPRT activity, to construct chimaeric mice.	35	54	20	Lesch-Nyhan syndrome	textual	C0023374	Lesch-Nyhan Syndrome			
284	3032521	3	This observation raises doubts concerning the most recently published assignment of ESD to 13q14.1. A deletion in an individual with retinoblastoma was reported to separate the closely linked ESD and retinoblastoma (RB1) loci, placing ESD proximal to RB1.	134	147	14	retinoblastoma	textual - provides correct UMLS code, however, also provides 1 other code (the code for the gene mentioned, RB1)	C0035335	Retinoblastoma			
284	3032521	3	This observation raises doubts concerning the most recently published assignment of ESD to 13q14.1. A deletion in an individual with retinoblastoma was reported to separate the closely linked ESD and retinoblastoma (RB1) loci, placing ESD proximal to RB1.	201	214	14	retinoblastoma	textual - provides correct UMLS code, however, also provides 1 other code (the code for the gene mentioned, RB1)	C0035335	Retinoblastoma			
285	313733	1	Homozygous C2 deficiency in a 19-year-old boy was associated with variable immunodeficiency manifested by marked hypoimmunoglobulinemia and impaired antibody responses, normal circulating B lymphocytes, and subnormal T-cell functions.	12	24	13	C2 deficiency	textual - yields differenct UMLS code.  Yields code for "C2 gene" C1412938	C0398756	Complement 2 deficiency			
285	313733	1	Homozygous C2 deficiency in a 19-year-old boy was associated with variable immunodeficiency manifested by marked hypoimmunoglobulinemia and impaired antibody responses, normal circulating B lymphocytes, and subnormal T-cell functions.	76	91	16	immunodeficiency	textual - yields UMLS code C0021051	T0000026 - C0850497,C0021051	immune deficiency - Immunologic Deficiency Syndromes			
286	313733	3	Serum immunoglobulin levels were within normal limits in his parents and brother who were heterozygous for C2 deficiency.	108	120	13	C2 deficiency	textual - was not annotated yields result UMLS code for "C2 gene".  I believe the text is reffering to "Complement 2 deficiency		C2 gene, Complement 2 deficiency	C1412938, C0398756		
287	3162536	1	We have analysed over 300 patients suffering from Duchenne or Becker muscular dystrophy DMD or BMD.	89	91	3	DMD	textual/intuitive - yields correct UMLS code, however, also provides 3 others.  Abstract did define DMD as the abbreviation for Duchenne Muscular Dystrophy	C0013264	Muscular Dystrophy, Duchenne			
287	3162536	1	We have analysed over 300 patients suffering from Duchenne or Becker muscular dystrophy DMD or BMD.	96	98	3	BMD	textual - yields correct UMLS code, however, also provides 4 others	C0917713	Becker Muscular Dystrophy			
287	3162536	1	We have analysed over 300 patients suffering from Duchenne or Becker muscular dystrophy DMD or BMD.	51	87	37	Duchenne or Becker muscular dystrophy	intuitive: list is present.  A search for "Duchenne muscular dystrophy" yields correct  UMLS code	C0013264	Muscular Dystrophy, Duchenne			
287	3162536	1	We have analysed over 300 patients suffering from Duchenne or Becker muscular dystrophy DMD or BMD.	63	87	25	Becker muscular dystrophy	textual	C0917713	Becker Muscular Dystrophy			
288	3169738	1	A panel of patients with Duchenne and Becker muscular dystrophy (DMD and BMD) has been screened with the cDNA probes Cf56a and Cf23a, which detect exons in the central part of the DMD gene.	66	68	3	DMD	textual/intuitive - yields correct UMLS code, however, also provides 3 others.  Abstract did define DMD as the abbreviation for Duchenne Muscular Dystrophy	C0013264	Muscular Dystrophy, Duchenne			
288	3169738	1	A panel of patients with Duchenne and Becker muscular dystrophy (DMD and BMD) has been screened with the cDNA probes Cf56a and Cf23a, which detect exons in the central part of the DMD gene.	74	76	3	BMD	textual - yields correct UMLS code, however, also provides 4 others	C0917713	Becker Muscular Dystrophy			
288	3169738	1	A panel of patients with Duchenne and Becker muscular dystrophy (DMD and BMD) has been screened with the cDNA probes Cf56a and Cf23a, which detect exons in the central part of the DMD gene.	26	63	38	Duchenne and Becker muscular dystrophy	intuitive: list is present.  A search for "Duchenne muscular dystrophy" yields correct  UMLS code	C0013264	Muscular Dystrophy, Duchenne			
288	3169738	1	A panel of patients with Duchenne and Becker muscular dystrophy (DMD and BMD) has been screened with the cDNA probes Cf56a and Cf23a, which detect exons in the central part of the DMD gene.	39	63	25	Becker muscular dystrophy	textual	C0917713	Becker Muscular Dystrophy			
289	318684	9	Thus, this child is a unique individual with inherited C3 deficiency presenting with absence of repeated infections, whose symptoms of fever, skin rash, and arthralgia were abated by whole blood transfusion..	56	68	13	C3 deficiency	textual	C1332655	C3 Deficiency			
289	318684	9	Thus, this child is a unique individual with inherited C3 deficiency presenting with absence of repeated infections, whose symptoms of fever, skin rash, and arthralgia were abated by whole blood transfusion..	106	115	10	infections	textual - textual yields both UMLS codes, however, also provides 2 others Infections of musculoskeletal system [C0851162] and Adverse Event Associated with Infection [C1556682]	T0000020 - C0021311,C0009450	Infection - Communicable Diseases			
289	318684	9	Thus, this child is a unique individual with inherited C3 deficiency presenting with absence of repeated infections, whose symptoms of fever, skin rash, and arthralgia were abated by whole blood transfusion..	143	151	9	skin rash	textual	C0015230	Exanthema			
289	318684	9	Thus, this child is a unique individual with inherited C3 deficiency presenting with absence of repeated infections, whose symptoms of fever, skin rash, and arthralgia were abated by whole blood transfusion..	158	167	10	arthralgia	textual	C0003862	Arthralgia			
290	3198117	5	The results demonstrated that the genetic heterogeneity of G6PD deficiency was high in this area..	60	74	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
291	3258663	10	These techniques should prove useful in identifying carriers of severe von Willebrand disease and also in defining patients predictably at risk of developing alloantibodies to vWF..	72	93	22	von Willebrand disease	textual - yields 1 of 2 UMLS codes (C0042974 - von Willebrand Disease), however, also yields 1 other code for the "VWF Gene	T0000023 - C1264039,C0042974	von Willebrand disease type 1- von Willebrand Disease			
292	3343337	1	Lipid metabolism was studied in cultured skin fibroblasts from patients with the inherited disorder, Sjogren-Larsson syndrome SLS.	127	129	3	SLS	textual - yields correct UMLS code, however, also provides 4 others	C0037231	Sjogren-Larsson Syndrome			
292	3343337	1	Lipid metabolism was studied in cultured skin fibroblasts from patients with the inherited disorder, Sjogren-Larsson syndrome SLS.	102	125	24	Sjogren-Larsson syndrome	textual	C0037231	Sjogren-Larsson Syndrome			
293	3346017	1	We have identified a Duchenne muscular dystrophy (DMD) pedigree where the disease is associated with a molecular deletion within the DMD locus.	51	53	3	DMD	textual - yields correct UMLS code, however, also provides 3 others	C0013264	Muscular Dystrophy, Duchenne			
293	3346017	1	We have identified a Duchenne muscular dystrophy (DMD) pedigree where the disease is associated with a molecular deletion within the DMD locus.	22	48	27	Duchenne muscular dystrophy	textual	C0013264	Muscular Dystrophy, Duchenne			
294	3346018	1	The presence of nebulin in a muscle specimen from a patient with Duchenne muscular dystrophy (DMD) due to a large deletion precludes the possibility that this protein is the DMD gene product..	95	97	3	DMD	textual - yields correct UMLS code, however, also provides 3 others	C0013264	Muscular Dystrophy, Duchenne			
294	3346018	1	The presence of nebulin in a muscle specimen from a patient with Duchenne muscular dystrophy (DMD) due to a large deletion precludes the possibility that this protein is the DMD gene product..	66	92	27	Duchenne muscular dystrophy	textual	C0013264	Muscular Dystrophy, Duchenne			
295	3347839	4	The identification of Dmd mRNA in brain raises the possibility of a relation between human Duchenne muscular dystrophy (DMD) gene expression and the mental retardation found in some DMD males.	183	185	3	DMD	textual - yields correct UMLS code, however, also provides 3 others	C0013264	Muscular Dystrophy, Duchenne			
295	3347839	4	The identification of Dmd mRNA in brain raises the possibility of a relation between human Duchenne muscular dystrophy (DMD) gene expression and the mental retardation found in some DMD males.	92	118	27	Duchenne muscular dystrophy	textual	C0013264	Muscular Dystrophy, Duchenne			
295	3347839	4	The identification of Dmd mRNA in brain raises the possibility of a relation between human Duchenne muscular dystrophy (DMD) gene expression and the mental retardation found in some DMD males.	150	167	18	mental retardation	textual	C0025362	Mental Retardation			
296	3348216	2	The frequency of G6PD deficiency in the patients was not different from the incidence in a group of 16,219 controls.	18	32	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
297	3348216	4	Therefore at present there is no evidence that G6PD deficiency has a protective effect against development of hematologic neoplasms..	48	62	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
297	3348216	4	Therefore at present there is no evidence that G6PD deficiency has a protective effect against development of hematologic neoplasms..	111	131	21	hematologic neoplasms	textual	C0376545	Hematologic Neoplasms			
298	3354603	2	We report four children with hepatoblastoma from four unrelated families with Gardner syndrome GS.	96	97	2	GS	textual - yields correct UMLS code, however, also yields 11 others	C0017097	Gardner`s Syndrome			
298	3354603	2	We report four children with hepatoblastoma from four unrelated families with Gardner syndrome GS.	30	43	14	hepatoblastoma	textual	C0206624	Hepatoblastoma			
298	3354603	2	We report four children with hepatoblastoma from four unrelated families with Gardner syndrome GS.	79	94	16	Gardner syndrome	textual	C0017097	Gardner`s Syndrome			
299	3362213	1	Tay-Sachs disease is an autosomal recessive genetic disorder resulting from mutation of the HEXA gene encoding the alpha-subunit of the lysosomal enzyme, beta-N-acetylhexosaminidase A ref. 1.	1	17	17	Tay-Sachs disease	textual	C0039373	Tay-Sachs Disease			
300	3377761	7	This is presently the only animal model for X-linked G6PD deficiency in humans..	28	68	41	animal model for X-linked G6PD deficiency	intuitive: text implies a animal disease model for a specific disease.	C0012644	Animal Disease Models			
300	3377761	7	This is presently the only animal model for X-linked G6PD deficiency in humans..	54	68	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency	?code		
301	3393536	12	Thus, diverse point mutations may account largely for the phenotypic heterogeneity of G6PD deficiency..	87	101	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
302	3393536	7	In one of the commonest, G6PD Mediterranean, which is associated with favism among other clinical manifestations, a single amino acid replacement was found (serine----phenylalanine): it must be responsible for the decreased stability and the reduced catalytic efficiency of this enzyme.	71	76	6	favism	textual	C0015702	Favism			
303	3417303	1	In 16 families with myotonic dystrophy (DM) a novel approach based on use of allele-specific oligonucleotides has been employed to study the linkage relationship between the apolipoprotein E (APOE) gene and DM.	41	42	2	DM	textual - search yields 1 of 2 UMLS codes (C0027126), however, also provides 8 other UMLS codes	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
303	3417303	1	In 16 families with myotonic dystrophy (DM) a novel approach based on use of allele-specific oligonucleotides has been employed to study the linkage relationship between the apolipoprotein E (APOE) gene and DM.	208	209	2	DM	textual - search yields 1 of 2 UMLS codes (C0027126), however, also provides 8 other UMLS codes	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
303	3417303	1	In 16 families with myotonic dystrophy (DM) a novel approach based on use of allele-specific oligonucleotides has been employed to study the linkage relationship between the apolipoprotein E (APOE) gene and DM.	21	38	18	myotonic dystrophy	textual - search yields 1 of 2 UMLS codes (C0027126). The second code has to do with muscular dystrophy and must be searched intuitively.	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
304	3422216	3	By Southern blot analysis we have mapped ten different polymorphic DNA loci relative to the position of the deletion and the choroideremia locus TCD.	126	138	13	choroideremia	textual	C0008525	Choroideremia			
305	3455778	1	Phenylketonuria (PKU) is caused by deficiency of the hepatic enzyme phenylalanine hydroxylase PAH.	18	20	3	PKU	textual - yields 2 of 3 UMLS codes, Classical phenylketonuria and phenylketonurias.  Also provides code for "PAH gene	T0000019 - C1291306, C0031485, C0751434	Deficiency of phenylalanine 4-monooxygenase, Phenylketonurias, Classical phenylketonuria			
305	3455778	1	Phenylketonuria (PKU) is caused by deficiency of the hepatic enzyme phenylalanine hydroxylase PAH.	1	15	15	Phenylketonuria	textual - yields 2 of 3 UMLS codes, Classical phenylketonuria and phenylketonurias.  Also provides code for "PAH gene	T0000019 - C1291306, C0031485, C0751434	Deficiency of phenylalanine 4-monooxygenase, Phenylketonurias, Classical phenylketonuria			
305	3455778	1	Phenylketonuria (PKU) is caused by deficiency of the hepatic enzyme phenylalanine hydroxylase PAH.	36	93	58	deficiency of the hepatic enzyme phenylalanine hydroxylase	intuitive: text is stating a deficiency of a specific enzyme	C0149676	Enzyme Deficiency			
306	3464560	1	A novel procedure is presented to estimate the ratio of male to female mutation rates for Duchenne muscular dystrophy DMD.	119	121	3	DMD	textual - yields correct UMLS code, however, also provides 3 others	C0013264	Muscular Dystrophy, Duchenne			
306	3464560	1	A novel procedure is presented to estimate the ratio of male to female mutation rates for Duchenne muscular dystrophy DMD.	91	117	27	Duchenne muscular dystrophy	textual	C0013264	Muscular Dystrophy, Duchenne			
307	3480530	4	We have reported isolation of a cDNA fragment that recognizes chromosomal sequences possessing many of the attributes of the retinoblastoma gene associated with the RB1 locus.	126	139	14	retinoblastoma	textual - provides correct UMLS code, however, also provides 1 other code (the code for the gene mentioned, RB1)	C0035335	Retinoblastoma			
308	3524231	1	A controlled, double-blind therapeutic trial with the drug mazindol, a growth hormone inhibitor, was performed in a pair of 7 1/2 year-old monozygotic twins, with Duchenne muscular dystrophy DMD.	192	194	3	DMD	textual - yields correct UMLS code, however, also provides 3 others	C0013264	Muscular Dystrophy, Duchenne			
308	3524231	1	A controlled, double-blind therapeutic trial with the drug mazindol, a growth hormone inhibitor, was performed in a pair of 7 1/2 year-old monozygotic twins, with Duchenne muscular dystrophy DMD.	164	190	27	Duchenne muscular dystrophy	textual	C0013264	Muscular Dystrophy, Duchenne			
309	3563511	5	This approach now allows HPRT mutation detection in 50 percent of the cases of Lesch-Nyhan syndrome.	80	99	20	Lesch-Nyhan syndrome	textual	C0023374	Lesch-Nyhan Syndrome			
310	3565372	4	The patients with G6PD Huron were under medical observation for a considerable period of time without the diagnosis of G6PD deficiency being entertained because the family was of Northern European origin.	120	134	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
311	3565372	5	Since sporadic variants of G6PD causing HNSHA show no special racial predilection, the diagnosis of G6PD deficiency should always be considered in patients with this syndrome..	101	115	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
312	3572301	1	The mAb L10 was used to determine the distribution and the function of sialophorin, the heavily glycosylated surface molecule that is deficient/defective in lymphocytes of patients with the X-linked immunodeficiency Wiskott-Aldrich syndrome.	217	240	24	Wiskott-Aldrich syndrome	textual	C0043194	Wiskott-Aldrich Syndrome			
313	3578281	1	Cutaneous and ocular pigmentation were evaluated in 29 individuals with the Prader-Willi syndrome PWS.	99	101	3	PWS	textual	C0032897	Prader-Willi Syndrome			
313	3578281	1	Cutaneous and ocular pigmentation were evaluated in 29 individuals with the Prader-Willi syndrome PWS.	77	97	21	Prader-Willi syndrome	textual	C0032897	Prader-Willi Syndrome			
314	3591825	1	We report on two clinically, neurologically normal relatives of a boy affected by adrenoleukodystrophy (ALD); they were found repeatedly to have the biochemical defect of an ALD hemizygote.	105	107	3	ALD	textual - yields only 1 of 2 UMLS codes (C0162309). This search also yields 1 other code.	T0000003 - C0162309,C0282525	Adrenoleukodystrophy, Adrenoleukodystrophy, Neonatal			
314	3591825	1	We report on two clinically, neurologically normal relatives of a boy affected by adrenoleukodystrophy (ALD); they were found repeatedly to have the biochemical defect of an ALD hemizygote.	175	177	3	ALD	textual - yields only 1 of 2 UMLS codes (C0162309). This search also yields 1 other code.	T0000003 - C0162309,C0282525	Adrenoleukodystrophy, Adrenoleukodystrophy, Neonatal			
314	3591825	1	We report on two clinically, neurologically normal relatives of a boy affected by adrenoleukodystrophy (ALD); they were found repeatedly to have the biochemical defect of an ALD hemizygote.	83	102	20	adrenoleukodystrophy	textual - yields only 1 of 2 UMLS codes (C0162309).  This search also yields 1 other code.	T0000003 - C0162309,C0282525	Adrenoleukodystrophy, Adrenoleukodystrophy, Neonatal			
315	3600793	3	The identification of a mouse X-linked mutant showing muscular dystrophy, mdx, has provided a candidate mouse genetic homologue to the DMD locus; the relatively mild pathological features of mdx suggest it may have more in common with mutations of the Becker muscular dystrophy type at the same human locus, however.	253	277	25	Becker muscular dystrophy	textual	C0917713	Becker Muscular Dystrophy			
316	3600794	4	Here we describe the use of two sequences from the human Duchenne muscular dystrophy (DMD) gene that cross-hybridize to mouse X-linked sequences to localize the gene homologous to DMD in the mouse.	58	84	27	Duchenne muscular dystrophy	textual	C0013264	Muscular Dystrophy, Duchenne			
317	3615198	1	Classical Phenylketonuria (PKU) is an autosomal recessive human genetic disorder caused by a deficiency of hepatic phenylalanine hydroxylase PAH.	28	30	3	PKU	textual - yields 2 of 3 UMLS codes, Classical phenylketonuria and phenylketonurias.  Also provides code for "PAH gene	T0000019 - C1291306, C0031485, C0751434	Deficiency of phenylalanine 4-monooxygenase, Phenylketonurias, Classical phenylketonuria			
317	3615198	1	Classical Phenylketonuria (PKU) is an autosomal recessive human genetic disorder caused by a deficiency of hepatic phenylalanine hydroxylase PAH.	11	25	15	Phenylketonuria	textual - yields 2 of 3 UMLS codes, Classical phenylketonuria and phenylketonurias.  Also provides code for "PAH gene	T0000019 - C1291306, C0031485, C0751434	Deficiency of phenylalanine 4-monooxygenase, Phenylketonurias, Classical phenylketonuria			
318	3659917	1	A portion of the Duchenne muscular dystrophy (DMD) gene transcript from human fetal skeletal muscle and mouse adult heart was sequenced, representing approximately 25 percent of the total, 14-kb DMD transcript.	18	44	27	Duchenne muscular dystrophy	textual	C0013264	Muscular Dystrophy, Duchenne			
319	3674116	1	We report on 4 sibs (2F, 2M) with Prader-Willi syndrome PWS.	57	59	3	PWS	textual	C0032897	Prader-Willi Syndrome			
319	3674116	1	We report on 4 sibs (2F, 2M) with Prader-Willi syndrome PWS.	35	55	21	Prader-Willi syndrome	textual	C0032897	Prader-Willi Syndrome			
320	3678494	1	Monoclonal antibodies which recognize different epitopes on either titin or nebulin show normal staining patterns on frozen sections of three muscle biopsies of Duchenne muscular dystrophy DMD.	190	192	3	DMD	textual - yields correct UMLS code, however, also provides 3 others	C0013264	Muscular Dystrophy, Duchenne			
320	3678494	1	Monoclonal antibodies which recognize different epitopes on either titin or nebulin show normal staining patterns on frozen sections of three muscle biopsies of Duchenne muscular dystrophy DMD.	162	188	27	Duchenne muscular dystrophy	textual	C0013264	Muscular Dystrophy, Duchenne			
321	3718019	2	The significance of this association is controversial, though the association of C2 deficiency with certain histocompatibility antigens suggests possible linkage to immune response genes.	82	94	13	C2 deficiency	textual - was not annotated yields result UMLS code for "C2 gene".  I believe the text is reffering to "Complement 2 deficiency		C2 gene, Complement 2 deficiency	C1412938, C0398756		
322	3718019	3	To our knowledge this is the first report of heterozygous C2 deficiency in association with this combination of 'autoimmune' disorders, and we discuss the aetiological implications..	59	71	13	C2 deficiency	textual -  yields wrong UMLS code, yields UMLS code for "C2 gene".  The abstract defines "C2 deficiency" as complement factor 2 (C2) deficiency.	C0398756	Complement 2 deficiency			
322	3718019	3	To our knowledge this is the first report of heterozygous C2 deficiency in association with this combination of 'autoimmune' disorders, and we discuss the aetiological implications..	114	134	21	autoimmune' disorders	textual	C0004364	Autoimmune Diseases			
323	3789016	1	Genetically determined C3 deficiency in Brittany spaniel dogs shares a number of biochemical and clinical characteristics with the human disorder.	24	36	13	C3 deficiency	textual	C1332655	C3 Deficiency			
324	3789016	2	In humans, the gene for C3 deficiency is a null gene that is allelic to the structural gene for C3 and is not linked to the major histocompatibility locus.	25	37	13	C3 deficiency	textual	C1332655	C3 Deficiency			
325	3789016	3	The current study used allotype analysis of canine C3 in order to demonstrate that the gene for C3 deficiency in these dogs is also a null gene allelic to the structural gene for C3.	97	109	13	C3 deficiency	textual	C1332655	C3 Deficiency			
326	3789016	4	In addition, preliminary pedigree analysis suggests that the gene for canine C3 deficiency is apparently not closely linked to the major histocompatibility complex of the dog.	78	90	13	C3 deficiency	textual	C1332655	C3 Deficiency			
327	3789016	5	Thus, it appears that C3 deficiency in Brittany spaniel dogs not only shares biochemical and clinical features with C3 deficiency in humans, but also shares some genetic characteristics with the human disorder..	23	35	13	C3 deficiency	textual	C1332655	C3 Deficiency			
327	3789016	5	Thus, it appears that C3 deficiency in Brittany spaniel dogs not only shares biochemical and clinical features with C3 deficiency in humans, but also shares some genetic characteristics with the human disorder..	117	129	13	C3 deficiency	textual	C1332655	C3 Deficiency			
328	3856322	1	Phenylketonuria (PKU) is caused by a genetic deficiency of the enzyme phenylalanine hydroxylase PAH.	18	20	3	PKU	textual - yields 2 of 3 UMLS codes, Classical phenylketonuria and phenylketonurias.  Also provides code for "PAH gene	T0000019 - C1291306, C0031485, C0751434	Deficiency of phenylalanine 4-monooxygenase, Phenylketonurias, Classical phenylketonuria			
328	3856322	1	Phenylketonuria (PKU) is caused by a genetic deficiency of the enzyme phenylalanine hydroxylase PAH.	1	15	15	Phenylketonuria	textual - yields 2 of 3 UMLS codes, Classical phenylketonuria and phenylketonurias.  Also provides code for "PAH gene	T0000019 - C1291306, C0031485, C0751434	Deficiency of phenylalanine 4-monooxygenase, Phenylketonurias, Classical phenylketonuria			
328	3856322	1	Phenylketonuria (PKU) is caused by a genetic deficiency of the enzyme phenylalanine hydroxylase PAH.	46	69	24	deficiency of the enzyme	textual	C0149676	Enzyme Deficiency			
329	3862128	1	Phenylketonuria (PKU) is an autosomal recessive disorder of amino acid metabolism caused by a deficiency of the hepatic enzyme phenylalanine hydroxylase PAH; phenylalanine 4-monooxygenase, EC 1.14.16.1.	18	20	3	PKU	textual - yields 2 of 3 UMLS codes, Classical phenylketonuria and phenylketonurias.  Also provides code for "PAH gene	T0000019 - C1291306, C0031485, C0751434	Deficiency of phenylalanine 4-monooxygenase, Phenylketonurias, Classical phenylketonuria			
329	3862128	1	Phenylketonuria (PKU) is an autosomal recessive disorder of amino acid metabolism caused by a deficiency of the hepatic enzyme phenylalanine hydroxylase PAH; phenylalanine 4-monooxygenase, EC 1.14.16.1.	1	15	15	Phenylketonuria	textual - yields 2 of 3 UMLS codes, Classical phenylketonuria and phenylketonurias.  Also provides code for "PAH gene	T0000019 - C1291306, C0031485, C0751434	Deficiency of phenylalanine 4-monooxygenase, Phenylketonurias, Classical phenylketonuria			
329	3862128	1	Phenylketonuria (PKU) is an autosomal recessive disorder of amino acid metabolism caused by a deficiency of the hepatic enzyme phenylalanine hydroxylase PAH; phenylalanine 4-monooxygenase, EC 1.14.16.1.	95	152	58	deficiency of the hepatic enzyme phenylalanine hydroxylase	intuitive: text states a deficiency of a specific enzyme	C0149676	Enzyme Deficiency			
330	3876122	1	Type I von Willebrand disease (vWD) is characterized by equally low plasma concentrations of von Willebrand factor antigen (vWF:Ag) and ristocetin cofactor (RiCof) and by the presence of all vWF multimers in sodium dodecyl sulfate (SDS)-agarose gel electrophoresis.	32	34	3	vWD	textual - does not yield correct UMLS codes	T0000023 - C1264039,C0042974	von Willebrand disease type 1- von Willebrand Disease			
330	3876122	1	Type I von Willebrand disease (vWD) is characterized by equally low plasma concentrations of von Willebrand factor antigen (vWF:Ag) and ristocetin cofactor (RiCof) and by the presence of all vWF multimers in sodium dodecyl sulfate (SDS)-agarose gel electrophoresis.	8	29	22	von Willebrand disease	textual - yields 1 of 2 UMLS codes (C0042974 - von Willebrand Disease), however, also yields 1 other code for the "VWF Gene	T0000023 - C1264039,C0042974	von Willebrand disease type 1- von Willebrand Disease			
331	4019732	1	We have brought together information on 864 affected individuals in 164 families (including three new pedigrees) reported in the 137 year period since 1845 when Demarquay first described a family with what was later called van der Woude syndrome VWS.	247	249	3	VWS	textual	C0175697	Van der Woude syndrome			
331	4019732	1	We have brought together information on 864 affected individuals in 164 families (including three new pedigrees) reported in the 137 year period since 1845 when Demarquay first described a family with what was later called van der Woude syndrome VWS.	224	245	22	van der Woude syndrome	textual- yields the correct UMLS code, however, also yields the UMLS code for VWS gene	C0175697	Van der Woude syndrome			
332	409732	1	The serum of a 44-yr-old woman of French-Canadian descent having a B-27 positive ankylosing spondylitis was deficient in the seventh component of complement (C7) as determined by hemolytic and immunochemical methods.	82	103	22	ankylosing spondylitis	textual - yields correct UMLS code, however, aslo yields UMLS code for "AS gene	C0038013	Ankylosing spondylitis			
333	409732	5	The seven other siblings were heterozygous for C7 deficiency, while the paternal aunt had a normal C7 level.	48	60	13	C7 deficiency	textual - was not annotated		COMPLEMENT COMPONENT 7 DEFICIENCY	C1864694		
334	492335	8	Using similar methods, we now find that C5 deficiency in each of five different mouse strains (AKR, SWR, DBA/2J8 A/HeJ and B10.D2/old line) is due to a failure in secretion of C5 protein and not to a failure in biosynthesis of pro-C5..	41	53	13	C5 deficiency	textual	C1332657	COMPLEMENT COMPONENT 5 DEFICIENCY			
335	492812	2	To explore the pathogenesis of recurrent neisserial infections in C6 deficiency, a detailed analysis of her immune competence was conducted.	42	62	21	neisserial infections	intuitive: must search "neisseria infection" to yield correct UMLS code	C0851883	Neisseria infection			
335	492812	2	To explore the pathogenesis of recurrent neisserial infections in C6 deficiency, a detailed analysis of her immune competence was conducted.	67	79	13	C6 deficiency	textual - yields wrong UMLS code, yields UMLS code for "C6 Gene	C0398767	Complement 6 deficiency			
336	495634	10	No linkage for C5 deficiency and the A or B loci of the major histocompatibility complex could be found.	16	28	13	C5 deficiency	textual	C1332657	COMPLEMENT COMPONENT 5 DEFICIENCY			
337	495634	11	These data suggest an autosomal codominant mode of inheritance of C5 deficiency.	67	79	13	C5 deficiency	textual	C1332657	COMPLEMENT COMPONENT 5 DEFICIENCY			
338	511159	5	These three variants had a mild to moderate G6PD deficiency and were not associated with any clinical signs.	45	59	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
339	523196	2	He has been found to have a variant of hypoxanthine guanine phosphoribosyl transferase (HPRT; E.C.2.4.2.8) distinct from the enzyme present in patients with the Lesch-Nyhan syndrome.	162	181	20	Lesch-Nyhan syndrome	textual	C0023374	Lesch-Nyhan Syndrome			
340	6086495	1	A linkage study in 30 Becker muscular dystrophy (BMD) kindreds using three cloned DNA sequences from the X chromosome which demonstrate restriction fragment length polymorphisms (RFLPs), suggests that the BMD gene is located on the short arm of the X chromosome, in the p21 region.	50	52	3	BMD	textual - yields correct UMLS code, however, also provides 4 others	C0917713	Becker Muscular Dystrophy			
340	6086495	1	A linkage study in 30 Becker muscular dystrophy (BMD) kindreds using three cloned DNA sequences from the X chromosome which demonstrate restriction fragment length polymorphisms (RFLPs), suggests that the BMD gene is located on the short arm of the X chromosome, in the p21 region.	23	47	25	Becker muscular dystrophy	textual	C0917713	Becker Muscular Dystrophy			
341	6087154	2	Partial HPRT deficiencies are associated with gouty arthritis, while absence of activity results in Lesch-Nyhan syndrome L-N.	122	124	3	L-N	textual -  yields no UMLS code	C0023374	Lesch-Nyhan Syndrome			
341	6087154	2	Partial HPRT deficiencies are associated with gouty arthritis, while absence of activity results in Lesch-Nyhan syndrome L-N.	47	61	15	gouty arthritis	textual	C0003868	Arthritis, Gouty			
341	6087154	2	Partial HPRT deficiencies are associated with gouty arthritis, while absence of activity results in Lesch-Nyhan syndrome L-N.	101	120	20	Lesch-Nyhan syndrome	textual	C0023374	Lesch-Nyhan Syndrome			
342	6101415	1	An obligate carrier of the Wiskott-Aldrich syndrome (WAS) who was also heterozygous for the A and B types of X-linked glucose-6-phosphate dehydrogenase was found.	54	56	3	WAS	textual - yields correct UMLS code, however, also yields 20 others	C0043194	Wiskott-Aldrich Syndrome			
342	6101415	1	An obligate carrier of the Wiskott-Aldrich syndrome (WAS) who was also heterozygous for the A and B types of X-linked glucose-6-phosphate dehydrogenase was found.	28	51	24	Wiskott-Aldrich syndrome	textual	C0043194	Wiskott-Aldrich Syndrome			
342	6101415	1	An obligate carrier of the Wiskott-Aldrich syndrome (WAS) who was also heterozygous for the A and B types of X-linked glucose-6-phosphate dehydrogenase was found.	119	151	33	glucose-6-phosphate dehydrogenase	textual - this text is probably the reason for the annotation.  However, a search of this text does not yield the annotated UMLS codes.  Also, in the abstract i see no mention of G6PD deficiency.  The annotation might be incorrect.	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
343	6101415	5	These findings suggest that selection against the WAS gene occurs in platelets and thymus-derived T lymphocytes and that the defects associated with WAS expressed in these cell-types may be implicated in the genesis of the Wiskott-Aldrich syndrome..	224	247	24	Wiskott-Aldrich syndrome	textual	C0043194	Wiskott-Aldrich Syndrome			
344	6103091	2	One child with heterozygous C3 deficiency was found to have membranoproliferative glomerulonephritis; proteinuria and/or microscopical haematuria was present in all three homozygous C3-deficient children.	29	41	13	C3 deficiency	textual	C1332655	C3 Deficiency			
344	6103091	2	One child with heterozygous C3 deficiency was found to have membranoproliferative glomerulonephritis; proteinuria and/or microscopical haematuria was present in all three homozygous C3-deficient children.	61	100	40	membranoproliferative glomerulonephritis	textual	C0017662	Glomerulonephritis, Membranoproliferative			
344	6103091	2	One child with heterozygous C3 deficiency was found to have membranoproliferative glomerulonephritis; proteinuria and/or microscopical haematuria was present in all three homozygous C3-deficient children.	103	113	11	proteinuria	textual	C0033687	Proteinuria			
344	6103091	2	One child with heterozygous C3 deficiency was found to have membranoproliferative glomerulonephritis; proteinuria and/or microscopical haematuria was present in all three homozygous C3-deficient children.	136	145	10	haematuria	textual - was not annotated		Hematuria	C0018965		
345	6103091	3	All children with homozygous or heterozygous C3 deficiency were, to a varying degree, susceptible to infection.	46	58	13	C3 deficiency	textual	C1332655	C3 Deficiency			
345	6103091	3	All children with homozygous or heterozygous C3 deficiency were, to a varying degree, susceptible to infection.	102	110	9	infection	textual - textual yields both UMLS codes, however, also provides 2 others Infections of musculoskeletal system [C0851162] and Adverse Event Associated with Infection [C1556682]	T0000020 - C0021311,C0009450	Infection - Communicable Diseases			
346	6103091	5	This family study provides further support for the proposal that C3 deficiency predisposes to nephritis..	66	78	13	C3 deficiency	textual	C1332655	C3 Deficiency			
346	6103091	5	This family study provides further support for the proposal that C3 deficiency predisposes to nephritis..	95	103	9	nephritis	textual	C0027697	Nephritis			
347	624546	8	G6PD deficiency is heterogeneous in northern Algeria where autochtonous variants seem to prevail.	1	15	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
348	6337374	2	Parasite growth was approximately one-third of normal in both hemi- and heterozygotes for G6PD deficiency.	91	105	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
349	6337374	3	In Sardinians with the beta 0-thalassemia trait, parasite growth was normal except when G6PD deficiency occurred together with the thalassemia trait.	24	41	18	beta 0-thalassemia	beta 0-thalassemia trait	C0271980	beta^0^ Thalassemia			
349	6337374	3	In Sardinians with the beta 0-thalassemia trait, parasite growth was normal except when G6PD deficiency occurred together with the thalassemia trait.	31	47	17	thalassemia trait	textual	C0702157	Thalassemia trait			
349	6337374	3	In Sardinians with the beta 0-thalassemia trait, parasite growth was normal except when G6PD deficiency occurred together with the thalassemia trait.	89	103	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
349	6337374	3	In Sardinians with the beta 0-thalassemia trait, parasite growth was normal except when G6PD deficiency occurred together with the thalassemia trait.	132	148	17	thalassemia trait	textual	C0702157	Thalassemia trait			
350	6337374	4	The data support the hypothesis that G6PD deficiency may confer a selective advantage in a malarious area; the female heterozygote may be at a particular advantage because resistance to malaria equals that of male hemizygotes, but the risk of fatal hemolysis may be less.	38	52	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
350	6337374	4	The data support the hypothesis that G6PD deficiency may confer a selective advantage in a malarious area; the female heterozygote may be at a particular advantage because resistance to malaria equals that of male hemizygotes, but the risk of fatal hemolysis may be less.	187	193	7	malaria	textual - yields correct UMLS code, however, also provides UMLS code for "Malaria Vaccines	C0024530	Malaria			
350	6337374	4	The data support the hypothesis that G6PD deficiency may confer a selective advantage in a malarious area; the female heterozygote may be at a particular advantage because resistance to malaria equals that of male hemizygotes, but the risk of fatal hemolysis may be less.	250	258	9	hemolysis	textual - was not annoted, however, also provides 3 other UMLS codes		hemolysis	C0019054		
351	6387532	1	An allogeneic bone marrow transplant (BMT) from a normal HLA identical sibling donor was performed in a 13-year-old boy with rapidly progressive adrenoleukodystrophy ALD.	167	169	3	ALD	textual - yields only 1 of 2 UMLS codes (C0162309). This search also yields 1 other code.	T0000003 - C0162309,C0282525	Adrenoleukodystrophy, Adrenoleukodystrophy, Neonatal			
351	6387532	1	An allogeneic bone marrow transplant (BMT) from a normal HLA identical sibling donor was performed in a 13-year-old boy with rapidly progressive adrenoleukodystrophy ALD.	146	165	20	adrenoleukodystrophy	textual - yields only 1 of 2 UMLS codes (C0162309).  This search also yields 1 other code.	T0000003 - C0162309,C0282525	Adrenoleukodystrophy, Adrenoleukodystrophy, Neonatal			
352	6453040	1	In 28 families with G6PD deficiency living in 3 settlements of Shekii district of Azerbaijan 11 G6PD variants of II and III classes differing by kinetic properties were identified according WHO program. 9 of them are characterized with the same electrophoretic mobility.	21	35	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
353	6524872	7	Sixty percent of patients had childhood ALD and 17% adrenomyeloneuropathy, both of which are X-linked, with the gene mapped to Xq28.	41	43	3	ALD	textual/intuitive: the abstract defines ALD as the abbreviation for adrenoleukodystrophy. yields only 1 of 2 UMLS codes (C0162309). This search also yields 1 other code.	T0000003 - C0162309,C0282525	Adrenoleukodystrophy, Adrenoleukodystrophy, Neonatal			
353	6524872	7	Sixty percent of patients had childhood ALD and 17% adrenomyeloneuropathy, both of which are X-linked, with the gene mapped to Xq28.	53	73	21	adrenomyeloneuropathy	textual	C1527231	Adrenomyeloneuropathy			
354	6540752	1	Considerable genetic heterogeneity in G6PD was found in the Bulgarian population-14 G6PD variants isolated from 117 hemizygous carriers of G6PD deficiency.	140	154	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. The abstract did not define G6PD as the abbreviation for Glucose-6-phosphate dehydrogenase deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
355	6585184	1	Seventy families with Duchenne muscular dystrophy (DMD) known to the Institute of Child Health fall into three categories with respect to potential linkage analysis with the X chromosome DNA markers RC8 and L1.28 that bridge the DMD gene.	52	54	3	DMD	textual - yields correct UMLS code, however, also provides 3 others	C0013264	Muscular Dystrophy, Duchenne			
355	6585184	1	Seventy families with Duchenne muscular dystrophy (DMD) known to the Institute of Child Health fall into three categories with respect to potential linkage analysis with the X chromosome DNA markers RC8 and L1.28 that bridge the DMD gene.	23	49	27	Duchenne muscular dystrophy	textual	C0013264	Muscular Dystrophy, Duchenne			
356	6604602	11	Ankylosing spondylitis, psoriatic arthropathy and entero-arthropathy may be regarded as clinical sub-types of the syndrome..	1	22	22	Ankylosing spondylitis	textual - yields correct UMLS code, however, aslo yields UMLS code for "AS gene	C0038013	Ankylosing spondylitis			
356	6604602	11	Ankylosing spondylitis, psoriatic arthropathy and entero-arthropathy may be regarded as clinical sub-types of the syndrome..	25	45	21	psoriatic arthropathy	textual	C0003872	Arthritis, Psoriatic			
356	6604602	11	Ankylosing spondylitis, psoriatic arthropathy and entero-arthropathy may be regarded as clinical sub-types of the syndrome..	35	45	11	arthropathy	textual	C0022408	Arthropathy			
356	6604602	11	Ankylosing spondylitis, psoriatic arthropathy and entero-arthropathy may be regarded as clinical sub-types of the syndrome..	58	68	11	arthropathy	textual	C0022408	Arthropathy			
357	6618488	1	A chromosome 15 anomaly was observed in 12 of 20 patients, 17 of whom were clinically suspected of having Prader-Willi syndrome PWS.	129	131	3	PWS	textual	C0032897	Prader-Willi Syndrome			
357	6618488	1	A chromosome 15 anomaly was observed in 12 of 20 patients, 17 of whom were clinically suspected of having Prader-Willi syndrome PWS.	107	127	21	Prader-Willi syndrome	textual	C0032897	Prader-Willi Syndrome			
358	6650504	1	From data collected in a North American Tay-Sachs disease (TSD) heterozygote screening program, the TSD carrier frequency among 46,304 Jewish individuals was found to be .0324 1 in 31 individuals.	60	62	3	TSD	textual	C0039373	Tay-Sachs Disease			
358	6650504	1	From data collected in a North American Tay-Sachs disease (TSD) heterozygote screening program, the TSD carrier frequency among 46,304 Jewish individuals was found to be .0324 1 in 31 individuals.	101	103	3	TSD	textual	C0039373	Tay-Sachs Disease			
358	6650504	1	From data collected in a North American Tay-Sachs disease (TSD) heterozygote screening program, the TSD carrier frequency among 46,304 Jewish individuals was found to be .0324 1 in 31 individuals.	41	57	17	Tay-Sachs disease	textual	C0039373	Tay-Sachs Disease			
359	6783144	1	A case of human complete C6 deficiency is reported.	26	38	13	C6 deficiency	textual/intuitive: was not annotated, although the abstract doesn't define it, I believe the text is and abbreviation for "complement 6 deficiency", however, it yields the UMLS code for C6 gene		Complement 6 deficiency	C0398767		
360	6859721	4	Chronic neisserial infection can be associated with C7 deficiency and must be distinguished from other causes of cutaneous vasculitis..	1	28	28	Chronic neisserial infection	intuitive: a search for "chronic infection" will yield correct UMLS code	C0151317	Chronic infectious disease			
360	6859721	4	Chronic neisserial infection can be associated with C7 deficiency and must be distinguished from other causes of cutaneous vasculitis..	9	28	20	neisserial infection	intuitive: must search "neisseria infection" to yield correct UMLS code	C0851883	Neisseria infection			
360	6859721	4	Chronic neisserial infection can be associated with C7 deficiency and must be distinguished from other causes of cutaneous vasculitis..	53	65	13	C7 deficiency	textual: does not yield the UMLS code that was annotated, yields code for COMPLEMENT COMPONENT 7 DEFICIENCY, which appears to be a synonym	C0398768	Complement 7 deficiency	C1864694		
360	6859721	4	Chronic neisserial infection can be associated with C7 deficiency and must be distinguished from other causes of cutaneous vasculitis..	114	133	20	cutaneous vasculitis	textual	C0262988	Vasculitis of the skin			
361	6902670	1	Two siblings with chronic discoid lupus erythematosus and several family members were found with heterozygous C2 deficiency.	27	53	27	discoid lupus erythematosus	textual	C0024138	Lupus Erythematosus, Discoid			
361	6902670	1	Two siblings with chronic discoid lupus erythematosus and several family members were found with heterozygous C2 deficiency.	111	123	13	C2 deficiency	textual - does not yield annotated UMLS code, yields UMLS code for "C2 gene	C0398756	Complement 2 deficiency			
362	6902670	3	Linkage studies in this family suggested a close linkage between the C2 deficiency gene and genes coding for B18, Dw2, and BfS antigens.	70	82	13	C2 deficiency	textual/intuitive: was not annotated, although the abstract doesn't define it, I believe the text is and abbreviation for "complement 2 deficiency", however, it yields the UMLS code for C2 gene		Complement 2 deficiency	C0398756		
363	7055648	1	Molecular, kinetic, and functional studies were carried out on erythrocytes and leukocytes in a Spanish male with G6PD deficiency, congenital nonspherocytic hemolytic anemia (CNSHA), and increased susceptibility to infections.	176	180	5	CNSHA	textual - yields no UMLS code	T0000021 - C0472790,C0002882	Chronic non-spherocytic hemolytic anemia - Anemia, Hemolytic, Congenital Nonspherocytic			
363	7055648	1	Molecular, kinetic, and functional studies were carried out on erythrocytes and leukocytes in a Spanish male with G6PD deficiency, congenital nonspherocytic hemolytic anemia (CNSHA), and increased susceptibility to infections.	115	129	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
363	7055648	1	Molecular, kinetic, and functional studies were carried out on erythrocytes and leukocytes in a Spanish male with G6PD deficiency, congenital nonspherocytic hemolytic anemia (CNSHA), and increased susceptibility to infections.	132	173	42	congenital nonspherocytic hemolytic anemia	textual - yields 1 of 2 UMLS codes (C0002882)	T0000021 - C0472790,C0002882	Chronic non-spherocytic hemolytic anemia - Anemia, Hemolytic, Congenital Nonspherocytic			
363	7055648	1	Molecular, kinetic, and functional studies were carried out on erythrocytes and leukocytes in a Spanish male with G6PD deficiency, congenital nonspherocytic hemolytic anemia (CNSHA), and increased susceptibility to infections.	216	225	10	infections	textual - textual yields both UMLS codes, however, also provides 2 others Infections of musculoskeletal system [C0851162] and Adverse Event Associated with Infection [C1556682]	T0000020 - C0021311,C0009450	Infection - Communicable Diseases			
364	7076260	4	This study illustrates the extreme heterogeneity of G6PD deficiency among the people of Papua New Guinea..	53	67	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
365	7106752	11	(4) G6PD Betica, which is the most frequent variant found in subjects of Southern Spanish origin, has been observed associated with favism in all cases except one..	133	138	6	favism	textual	C0015702	Favism			
366	7106752	8	The most important findings can be summarized as follows: (1) The Spanish population is characterized by an important heterogeneity in G6PD deficiency.	136	150	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
367	7166314	2	The patient, a 6-year-old Japanese male, was noticed to have hemolytic anemia soon after birth, and a diagnosis of G6PD deficiency was made at the age of 2.	116	130	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
368	7191069	2	We describe a 19-year-old woman with typical MG and heterozygous C2 deficiency, along with HLA typing of the patient and her immediate family..	46	47	2	MG	intuitive: Was not annotated, in the abstract MG is defined as "myasthenia gravis		Myasthenia Gravis	C0026896		
368	7191069	2	We describe a 19-year-old woman with typical MG and heterozygous C2 deficiency, along with HLA typing of the patient and her immediate family..	66	78	13	C2 deficiency	textual/intuitive: was not annotated, although the abstract doesn't define it, I believe the text is and abbreviation for "complement 2 deficiency", however, it yields the UMLS code for C2 gene		Complement 2 deficiency	C0398756		
369	7202134	1	With a new method we measured the saturated very long chain fatty acids in the plasma of adrenoleukodystrophy (ALD) hemizygotes, ALD heterozygotes, and controls.	112	114	3	ALD	textual - yields only 1 of 2 UMLS codes (C0162309). This search also yields 1 other code.	T0000003 - C0162309,C0282525	Adrenoleukodystrophy, Adrenoleukodystrophy, Neonatal			
369	7202134	1	With a new method we measured the saturated very long chain fatty acids in the plasma of adrenoleukodystrophy (ALD) hemizygotes, ALD heterozygotes, and controls.	130	132	3	ALD	textual - yields only 1 of 2 UMLS codes (C0162309). This search also yields 1 other code.	T0000003 - C0162309,C0282525	Adrenoleukodystrophy, Adrenoleukodystrophy, Neonatal			
369	7202134	1	With a new method we measured the saturated very long chain fatty acids in the plasma of adrenoleukodystrophy (ALD) hemizygotes, ALD heterozygotes, and controls.	90	109	20	adrenoleukodystrophy	textual - yields only 1 of 2 UMLS codes (C0162309).  This search also yields 1 other code.	T0000003 - C0162309,C0282525	Adrenoleukodystrophy, Adrenoleukodystrophy, Neonatal			
370	7298854	1	The plasma lipoprotein profiles and high density lipoproteins (HDL) were characterized in patients with the genetic disease cerebrotendinous xanthomatosis CTX.	156	158	3	CTX	textual - yields correct UMLS code, however, also yields 2 others	C0238052	Xanthomatosis, Cerebrotendinous			
370	7298854	1	The plasma lipoprotein profiles and high density lipoproteins (HDL) were characterized in patients with the genetic disease cerebrotendinous xanthomatosis CTX.	125	154	30	cerebrotendinous xanthomatosis	textual	C0238052	Xanthomatosis, Cerebrotendinous			
371	7315872	1	We described 6 patients (from 3 families) affected with cerebrotendinous xanthomatosis CTX.	88	90	3	CTX	textual - yields correct UMLS code, however, also yields 2 others	C0238052	Xanthomatosis, Cerebrotendinous			
371	7315872	1	We described 6 patients (from 3 families) affected with cerebrotendinous xanthomatosis CTX.	57	86	30	cerebrotendinous xanthomatosis	textual	C0238052	Xanthomatosis, Cerebrotendinous			
372	7316485	3	These and other variants reported in the literature, which must thus far be regarded as sporadic, are found to map in parts of Italy where common types of G6PD deficiency are also prevalent..	156	170	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
373	7390473	1	Ten variants of erythrocyte glucose-6-phosphate dehydrogenase were identified in 22 patients with G6PD deficiency from three districts of Bulgaria.	99	113	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
374	7422429	1	Nephropathy was detected in five of 32 patients with the Wiskott-Aldrich syndrome who were participating in a study of transfer factor (TF) therapy.	1	11	11	Nephropathy	textual	C0022658	Kidney Diseases			
374	7422429	1	Nephropathy was detected in five of 32 patients with the Wiskott-Aldrich syndrome who were participating in a study of transfer factor (TF) therapy.	58	81	24	Wiskott-Aldrich syndrome	textual	C0043194	Wiskott-Aldrich Syndrome			
375	7437512	1	A family in which two male siblings were affected with Wiskott-Aldrich syndrome (WAS) was studied using G-6-PD isoenzymes as an X-linked marker in order to investigate the nature of cellular abnormalities.	82	84	3	WAS	textual - was not annotated, yields correct UMLS code, however, also yields 20 others		Wiskott-Aldrich Syndrome	C0043194		
375	7437512	1	A family in which two male siblings were affected with Wiskott-Aldrich syndrome (WAS) was studied using G-6-PD isoenzymes as an X-linked marker in order to investigate the nature of cellular abnormalities.	56	79	24	Wiskott-Aldrich syndrome	textual - was not annotated		Wiskott-Aldrich Syndrome	C0043194		
376	7444053	1	A new CT pattern was observed in 2 patients with adrenoleukodystrophy ALD.	71	73	3	ALD	textual/intuitive: the abstract defines ALD as the abbreviation for adrenoleukodystrophy. yields only 1 of 2 UMLS codes (C0162309). This search also yields 1 other code.	T0000003 - C0162309,C0282525	Adrenoleukodystrophy, Adrenoleukodystrophy, Neonatal			
376	7444053	1	A new CT pattern was observed in 2 patients with adrenoleukodystrophy ALD.	50	69	20	adrenoleukodystrophy	textual	T0000003 - C0162309,C0282525	Adrenoleukodystrophy, Adrenoleukodystrophy, Neonatal			
377	7450778	3	Th data presented here together with those of previously published studies demonstrate a degree of heterogeneity of G6PD deficiency that is much higher than that in other regions of the world where G6PD deficiency is common..	117	131	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
377	7450778	3	Th data presented here together with those of previously published studies demonstrate a degree of heterogeneity of G6PD deficiency that is much higher than that in other regions of the world where G6PD deficiency is common..	199	213	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
378	7458742	5	Moreover, G6PD deficiency should be added to other conditions, such as the galactosemic states and riboflavin deficiency, where cataracts represent a sensitive indicator of metabolic abnormalities of the RBC..	11	25	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
378	7458742	5	Moreover, G6PD deficiency should be added to other conditions, such as the galactosemic states and riboflavin deficiency, where cataracts represent a sensitive indicator of metabolic abnormalities of the RBC..	100	120	21	riboflavin deficiency	textual	C0035528	Riboflavin Deficiency			
378	7458742	5	Moreover, G6PD deficiency should be added to other conditions, such as the galactosemic states and riboflavin deficiency, where cataracts represent a sensitive indicator of metabolic abnormalities of the RBC..	129	137	9	cataracts	textual - provides 1 of 2 UMLS codes (C0086543). This query also yields one other UMLS code for "cataract adverse event	T0000006 - C0086543, C0009691	cataract - Congenital cataracts			
379	7479827	5	Polymerase chain reaction amplification of VLCAD mRNA and genomic exons defined the molecular defects in two patients with VLCAD deficiency who presented with unexplained cardiac arrest and cardiomyopathy.	172	185	14	cardiac arrest	textual	C0018790	Cardiac Arrest			
379	7479827	5	Polymerase chain reaction amplification of VLCAD mRNA and genomic exons defined the molecular defects in two patients with VLCAD deficiency who presented with unexplained cardiac arrest and cardiomyopathy.	191	204	14	cardiomyopathy	textual	C0878544	Cardiomyopathies			
380	7479827	8	This initial delineation of human mutations in VLCAD suggests that VLCAD deficiency reduces myocardial fatty acid beta-oxidation and energy production and is associated with cardiomyopathy and sudden death in childhood..	68	128	61	VLCAD deficiency reduces myocardial fatty acid beta-oxidation	intuitive	C1456270	Disorders of fatty acid oxidation			
380	7479827	8	This initial delineation of human mutations in VLCAD suggests that VLCAD deficiency reduces myocardial fatty acid beta-oxidation and energy production and is associated with cardiomyopathy and sudden death in childhood..	68	83	16	VLCAD deficiency	textual	C0342784	Very long chain acyl-CoA dehydrogenase deficiency			
380	7479827	8	This initial delineation of human mutations in VLCAD suggests that VLCAD deficiency reduces myocardial fatty acid beta-oxidation and energy production and is associated with cardiomyopathy and sudden death in childhood..	175	188	14	cardiomyopathy	textual	C0878544	Cardiomyopathies			
380	7479827	8	This initial delineation of human mutations in VLCAD suggests that VLCAD deficiency reduces myocardial fatty acid beta-oxidation and energy production and is associated with cardiomyopathy and sudden death in childhood..	194	205	12	sudden death	textual - yields correct UMLS code, however, also yields UMLS code for "Sudden Death Adverse Event Not Associated with More Specific CTCAE Term" which perhaps could be a synonym	C0011071	Sudden death	C1964022		
381	7481765	2	In 16 of 17 breast and ovarian cancer lines and 17 of 17 samples of cells obtained from malignant effusions, however, BRCA1 localized mainly in cytoplasm.	13	37	25	breast and ovarian cancer	intuitive: list is present, a search for "breast cancer" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
381	7481765	2	In 16 of 17 breast and ovarian cancer lines and 17 of 17 samples of cells obtained from malignant effusions, however, BRCA1 localized mainly in cytoplasm.	24	37	14	ovarian cancer	textual -   Search yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
382	7490097	1	ATP7B, the gene altered in Wilson disease (WD) patients, lies in a block of homology shared between human chromosome 13q14 and the central region of mouse chromosome 14.	44	45	2	WD	textual - yields correct UMLS code, however, also yields 2 others	C0019202	Hepatolenticular Degeneration			
382	7490097	1	ATP7B, the gene altered in Wilson disease (WD) patients, lies in a block of homology shared between human chromosome 13q14 and the central region of mouse chromosome 14.	28	41	14	Wilson disease	textual	C0019202	Hepatolenticular Degeneration			
383	7493024	2	We have analysed 60 families with a history of breast and/or ovarian cancer for germline mutations in BRCA1.	48	75	28	breast and/or ovarian cancer	intuitive: list is present, a search for "breast cancer" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast			
383	7493024	2	We have analysed 60 families with a history of breast and/or ovarian cancer for germline mutations in BRCA1.	62	75	14	ovarian cancer	textual -   Search yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
384	7523157	5	C7 M/N protein polymorphism allotyping, used to investigate the segregation of the C7 deficiency genes, showed that the apparently complement sufficient brother was heterozygous C7 deficient and a carrier of one of the deficiency genes.	84	96	13	C7 deficiency	textual - was not annotated		COMPLEMENT COMPONENT 7 DEFICIENCY	C1864694		
385	7535801	1	Individuals with subtotal complement C6 deficiency possess a C6 molecule that is 14% shorter than normal C6 and present in low but detectable concentrations 1-2% of the normal mean.	38	50	13	C6 deficiency	textual - yields wrong UMLS code, yields UMLS code for "C6 Gene	C0398767	Complement 6 deficiency			
386	7535801	8	Interestingly, all three subjects were probably heterozygous for both subtotal C6 and complete C6 deficiency..	96	108	13	C6 deficiency	textual/intuitive: was not annotated, abstract defines it as "complement C6 deficiency", however, it yields the UMLS code for C6 gene		Complement 6 deficiency	C0398767		
387	7543316	4	Here we use muscle biopsies from classical adult-onset myotonic dystrophy patients to study the accumulation of transcripts from both the normal and expanded DM kinase genes in patient muscle, and compare the results to normal and myopathic controls.	56	73	18	myotonic dystrophy	textual - search yields 1 of 2 UMLS codes (C0027126). The second code has to do with muscular dystrophy and must be searched intuitively.	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
388	7543316	7	Our findings are consistent with a novel molecular pathogenetic mechanism for myotonic dystrophy: both the normal and expanded DM kinase genes are transcribed in patient muscle, but the abnormal expansion-containing RNA has a dominant effect on RNA metabolism by preventing the accumulation of poly(A)+ RNA.	79	96	18	myotonic dystrophy	textual - search yields 1 of 2 UMLS codes (C0027126). The second code has to do with muscular dystrophy and must be searched intuitively.	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
389	7545954	1	A strong candidate for the 17q-linked BRCA1 gene, which influences susceptibility to breast and ovarian cancer, has been identified by positional cloning methods.	86	110	25	breast and ovarian cancer	intuitive: list is present, a search for "breast cancer" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
389	7545954	1	A strong candidate for the 17q-linked BRCA1 gene, which influences susceptibility to breast and ovarian cancer, has been identified by positional cloning methods.	97	110	14	ovarian cancer	textual -   Search yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
390	7545954	6	Identification of BRCA1 should facilitate early diagnosis of breast and ovarian cancer susceptibility in some individuals as well as a better understanding of breast cancer biology..	62	86	25	breast and ovarian cancer	intuitive: list is present, a search for "breast cancer" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
390	7545954	6	Identification of BRCA1 should facilitate early diagnosis of breast and ovarian cancer susceptibility in some individuals as well as a better understanding of breast cancer biology..	73	86	14	ovarian cancer	textual -   Search yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
391	7550229	10	Our limited data set on galactosemia mutations in Japanese suggests that the N314D GALT mutation encoding the Duarte variant arose before Asian and Caucasian people diverged and that classic galactosemia mutations arose and/or accumulated after the divergence of Asian and Caucasian populations..	184	203	20	classic galactosemia	textual - yields both UMLS codes	T0000028 - C0268151,C0016952	Classical galactosemia, Galactosemias			
392	7550230	3	In the study reported here we describe PAX6 mutations in one sporadic and five familial cases with aniridia.	100	107	8	aniridia	textual	C0003076	Aniridia			
393	7550230	5	One PAX6 mutation found in the PST region was associated with cataracts in an aniridia family.	63	71	9	cataracts	textual - provides 1 of 2 UMLS codes (C0086543). This query also yields one other UMLS code for "cataract adverse event	T0000006 - C0086543, C0009691	cataract - Congenital cataracts			
393	7550230	5	One PAX6 mutation found in the PST region was associated with cataracts in an aniridia family.	79	86	8	aniridia	textual	C0003076	Aniridia			
394	7550230	7	The six new aniridia cases reported here have mutations predicted to generate incomplete PAX6 proteins.	13	20	8	aniridia	textual	C0003076	Aniridia			
395	7550230	8	These results support the theory that human aniridia is caused by haploinsufficiency of PAX6..	45	52	8	aniridia	textual	C0003076	Aniridia			
396	7550349	1	Since BRCA1, the first major gene responsible for inherited breast cancer, was cloned, more than 50 unique mutations have been detected in the germline of individuals with breast and ovarian cancer.	51	73	23	inherited breast cancer	intuitive	C0346153	Familial cancer of breast			
396	7550349	1	Since BRCA1, the first major gene responsible for inherited breast cancer, was cloned, more than 50 unique mutations have been detected in the germline of individuals with breast and ovarian cancer.	61	73	13	breast cancer	textual - yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast			
396	7550349	1	Since BRCA1, the first major gene responsible for inherited breast cancer, was cloned, more than 50 unique mutations have been detected in the germline of individuals with breast and ovarian cancer.	173	197	25	breast and ovarian cancer	intuitive: list is present, a search for "breast cancer" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
396	7550349	1	Since BRCA1, the first major gene responsible for inherited breast cancer, was cloned, more than 50 unique mutations have been detected in the germline of individuals with breast and ovarian cancer.	184	197	14	ovarian cancer	textual -   Search yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
397	7550349	2	In high-risk pedigrees, female carriers of BRCA1 mutations have an 80-90% lifetime risk of breast cancer, and a 40-50% risk of ovarian cancer.	92	104	13	breast cancer	textual - yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast			
397	7550349	2	In high-risk pedigrees, female carriers of BRCA1 mutations have an 80-90% lifetime risk of breast cancer, and a 40-50% risk of ovarian cancer.	128	141	14	ovarian cancer	textual -   Search yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
398	7568002	1	The Huntington disease (HD) phenotype is associated with expansion of a trinucleotide repeat in the IT15 gene, which is predicted to encode a 348-kDa protein named huntington.	25	26	2	HD	textual - yields correct UMLS code, however, also yield 4 others	C0020179	Huntington Disease			
398	7568002	1	The Huntington disease (HD) phenotype is associated with expansion of a trinucleotide repeat in the IT15 gene, which is predicted to encode a 348-kDa protein named huntington.	5	22	18	Huntington disease	textual - yields correct UMLS code, however, also yields code for "HD gene	C0020179	Huntington Disease			
399	7573040	2	ADCA type I patients from families segregating SCA3 share clinical features in common with those with Machado-Joseph disease (MJD), the gene of which maps to the same region.	127	129	3	MJD	textual	C0024408	Machado-Joseph Disease			
399	7573040	2	ADCA type I patients from families segregating SCA3 share clinical features in common with those with Machado-Joseph disease (MJD), the gene of which maps to the same region.	103	124	22	Machado-Joseph disease	textual	C0024408	Machado-Joseph Disease			
400	7574457	5	We studied cultured skin fibroblasts from 2 brothers with Pelizaeus-Merzbacher disease who exhibited no detectable exonic mutation of the PLP gene.	59	86	28	Pelizaeus-Merzbacher disease	textual - yields 1 of 2 UMLS codes (C0205711)	T0000004 - C0751916,C0205711	Classic Pelizaeus-Merzbacher Disease, Pelizaeus-Merzbacher disease			
401	7574457	8	Our findings suggest that in some patients, Pelizaeus-Merzbacher disease is caused by overexpression of PLP gene transcripts, and that in these families a 50% increase of DM20 messenger RNA in females, relative to the increase in affected males, can identify a female carrier..	45	72	28	Pelizaeus-Merzbacher disease	textual - yields 1 of 2 UMLS codes (C0205711)	T0000004 - C0751916,C0205711	Classic Pelizaeus-Merzbacher Disease, Pelizaeus-Merzbacher disease			
402	7579347	2	Besides the classic WAS phenotype, there is a group of patients with congenital X-linked thrombocytopenia (XLT) who have small platelets but only transient eczema, if any, and minimal immune deficiency.	108	110	3	XLT	textual - does not yield annotated code, however, returns code for "THROMBOCYTOPENIA 1" which is possibly a synonym	C0272278	Congenital thrombocytopenia	C1839163		
402	7579347	2	Besides the classic WAS phenotype, there is a group of patients with congenital X-linked thrombocytopenia (XLT) who have small platelets but only transient eczema, if any, and minimal immune deficiency.	70	105	36	congenital X-linked thrombocytopenia	intuitive: must search "congenital thrombocytopenia" to yield correct UMLS code	C0272278	Congenital thrombocytopenia			
402	7579347	2	Besides the classic WAS phenotype, there is a group of patients with congenital X-linked thrombocytopenia (XLT) who have small platelets but only transient eczema, if any, and minimal immune deficiency.	157	162	6	eczema	textual	C0013595	Eczema			
402	7579347	2	Besides the classic WAS phenotype, there is a group of patients with congenital X-linked thrombocytopenia (XLT) who have small platelets but only transient eczema, if any, and minimal immune deficiency.	185	201	17	immune deficiency	textual - yields 1 of 2 UMLS codes, C0850497 [immune deficiency]	T0000026 - C0850497,C0021051	immune deficiency - Immunologic Deficiency Syndromes			
403	7581380	2	Dominant myotonia congenita (Thomsen's disease) is linked to CLCN1, the gene encoding the major muscle chloride channel, localized on chromosome 7q35.	10	27	18	myotonia congenita	textual	C0027127	Myotonia Congenita			
403	7581380	2	Dominant myotonia congenita (Thomsen's disease) is linked to CLCN1, the gene encoding the major muscle chloride channel, localized on chromosome 7q35.	30	46	17	Thomsen's disease	textual	C0027127	Myotonia Congenita			
404	7586656	1	Whole genomic hprt clones were used in Southern analysis to screen the integrity of the hprt gene in a family that includes a patient with HPRT enzyme deficiency causal to Lesch-Nyhan syndrome.	145	161	17	enzyme deficiency	textual - was not annotated		Enzyme Deficiency	C0149676		
404	7586656	1	Whole genomic hprt clones were used in Southern analysis to screen the integrity of the hprt gene in a family that includes a patient with HPRT enzyme deficiency causal to Lesch-Nyhan syndrome.	173	192	20	Lesch-Nyhan syndrome	textual	C0023374	Lesch-Nyhan Syndrome			
405	7599636	3	An amelogenin gene, AMGX, has been mapped to the short of the X chromosome (Xp22.1-p22.3) and has been implicated in the molecular pathology of X-linked amelogenesis imperfecta AIH1.	154	176	23	amelogenesis imperfecta	textual	C0002452	Amelogenesis Imperfecta			
406	7605382	2	The hyperalphalipoproteinemia caused by CETP deficiency is fairly common in Japan and one of the most common mutations in the CETP gene is the splicing defect of the intron 14, the allelic frequency of which has been shown to be 0.0049 in the Japanese general population.	5	29	25	hyperalphalipoproteinemia	textual	C0342883	Hyperalphalipoproteinemia			
406	7605382	2	The hyperalphalipoproteinemia caused by CETP deficiency is fairly common in Japan and one of the most common mutations in the CETP gene is the splicing defect of the intron 14, the allelic frequency of which has been shown to be 0.0049 in the Japanese general population.	41	55	15	CETP deficiency	intuitive: CETP is defined as a specific type of protein in the abstract.  The query of this text provides a more specific UMLS code for "CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY	C0033626	Protein Deficiency	C1846485		
407	7605382	9	This was the first reported subject homozygous for the CETP deficiency who also demonstrated atherosclerotic symptoms.	56	70	15	CETP deficiency	textual - was not annotated		CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY	C1846485		
407	7605382	9	This was the first reported subject homozygous for the CETP deficiency who also demonstrated atherosclerotic symptoms.	94	108	15	atherosclerotic	textual - was not annotated		Atherosclerotic	C0333482		
408	7607677	1	Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disorder caused by a deficiency in N-acetylgalactosamine-6-sulfatase GALNS.	28	30	3	MPS	textual - returns Wrong UMLS code	C0026703	Mucopolysaccharidoses			
408	7607677	1	Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disorder caused by a deficiency in N-acetylgalactosamine-6-sulfatase GALNS.	1	21	21	Mucopolysaccharidosis	textual	C0026703	Mucopolysaccharidoses			
408	7607677	1	Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disorder caused by a deficiency in N-acetylgalactosamine-6-sulfatase GALNS.	84	136	53	deficiency in N-acetylgalactosamine-6-sulfatase GALNS	intuitive: text refers to a deficiency of a specific enzyme	C0149676	Enzyme Deficiency			
409	7611277	1	Genetic epidemiological evidence suggests that mutations in BRCA1 may be responsible for approximately one half of early onset familial breast cancer and the majority of familial breast/ovarian cancer.	128	149	22	familial breast cancer	textual	C0346153	Familial cancer of breast			
409	7611277	1	Genetic epidemiological evidence suggests that mutations in BRCA1 may be responsible for approximately one half of early onset familial breast cancer and the majority of familial breast/ovarian cancer.	137	149	13	breast cancer	textual - yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast			
409	7611277	1	Genetic epidemiological evidence suggests that mutations in BRCA1 may be responsible for approximately one half of early onset familial breast cancer and the majority of familial breast/ovarian cancer.	171	200	30	familial breast/ovarian cancer	intuitive: list is present, also "inherited" must be replace with "familial" or "hereditary". A search for "familial breast cancer" or "hereditary breast cancer" yield correct UMLS code	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
409	7611277	1	Genetic epidemiological evidence suggests that mutations in BRCA1 may be responsible for approximately one half of early onset familial breast cancer and the majority of familial breast/ovarian cancer.	171	200	30	familial breast/ovarian cancer	intuitive: list is present, a search of "breast cancer" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 Ovarian Carcinoma - Group name		
410	7611277	10	These results provide further evidence that inherited breast and ovarian cancer can occur as a consequence of a wide array of BRCA1 mutations.	45	79	35	inherited breast and ovarian cancer	intuitive: list is present, also "inherited" must be replace with "familial" or "hereditary". A search for "familial breast cancer" or "hereditary breast cancer" yield correct UMLS code	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
410	7611277	10	These results provide further evidence that inherited breast and ovarian cancer can occur as a consequence of a wide array of BRCA1 mutations.	45	79	35	inherited breast and ovarian cancer	intuitive: list is present, a search of "breast cancer" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 Ovarian Carcinoma - Group name		
411	7617034	3	However, attempts to confirm that G6PD deficiency is protective in case-control studies of malaria have yielded conflicting results.	35	49	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
411	7617034	3	However, attempts to confirm that G6PD deficiency is protective in case-control studies of malaria have yielded conflicting results.	92	98	7	malaria	textual - yields correct UMLS code, however, also yield UMLS code for "Malaria Vaccines	C0024530	Malaria			
412	7617034	6	Here we report that, in two large case-control studies of over 2,000 African children, the common African form of G6PD deficiency (G6PD A-) is associated with a 46-58% reduction in risk of severe malaria for both female heterozygotes and male hemizygotes.	115	129	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
412	7617034	6	Here we report that, in two large case-control studies of over 2,000 African children, the common African form of G6PD deficiency (G6PD A-) is associated with a 46-58% reduction in risk of severe malaria for both female heterozygotes and male hemizygotes.	197	203	7	malaria	textual - yields correct UMLS code, however, also yield UMLS code for "Malaria Vaccines	C0024530	Malaria			
413	7617034	8	Although G6PD deficiency is now regarded as a generally benign disorder, in earlier environmental conditions it could have been significantly disadvantageous..	10	24	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
414	7630639	2	The PAX3/FKHR fusion gene, formed by a t 2;13 (q35;q14) in alveolar rhabdomyosarcoma, encodes a hybrid protein that contains both PAX3 DNA binding domains, the paired box and homeodomain, linked to the bisected DNA binding domain of FKHR, a member of the forkhead family of transcription factors.	60	84	25	alveolar rhabdomyosarcoma	textual	C0206655	Rhabdomyosarcoma, Alveolar			
415	7652577	2	The mutated CDK4 allele was present in autologous cultured melanoma cells and metastasis tissue, but not in the patient's lymphocytes.	60	67	8	melanoma	textual - yields 1 of 2 UMLS codes (C0025202), however, also provides UMLS code for "Melanoma Vaccine	T0000025 - C0431097,C0025202	Malignant melanoma - melanoma			
415	7652577	2	The mutated CDK4 allele was present in autologous cultured melanoma cells and metastasis tissue, but not in the patient's lymphocytes.	79	88	10	metastasis	textual	C0027627	Neoplasm Metastasis			
416	7663517	1	More than 75% of the reported mutations in the hereditary breast and ovarian cancer gene, BRCA1, result in truncated proteins.	48	83	36	hereditary breast and ovarian cancer	intuitive: list is present, also "inherited" must be replace with "familial" or "hereditary". A search for "familial breast cancer" or "hereditary breast cancer" yield correct UMLS code	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
416	7663517	1	More than 75% of the reported mutations in the hereditary breast and ovarian cancer gene, BRCA1, result in truncated proteins.	48	83	36	hereditary breast and ovarian cancer	intuitive: list is present, a search of "breast cancer" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 Ovarian Carcinoma - Group name		
417	7668252	6	This is the first demonstration of a mutation causing VLCAD deficiency.	55	70	16	VLCAD deficiency	textual - was not annotated		Very long chain acyl-CoA dehydrogenase deficiency	C0342784		
418	7668252	8	In patient fibroblasts, raising VLCAD activity to approximately 20% of normal control fibroblast activity raised palmitic acid beta-oxidation flux to the level found in control fibroblasts, which may offer important information for the rational design of future somatic gene therapy for VLCAD deficiency..	288	303	16	VLCAD deficiency	textual - was not annotated		Very long chain acyl-CoA dehydrogenase deficiency	C0342784		
419	7696601	1	Abnormal amplification of a CTG repeat on chromosome 19 is the molecular basis of myotonic dystrophy DM.	102	103	2	DM	textual - search yields 1 of 2 UMLS codes (C0027126), however, also provides 8 other UMLS codes	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
419	7696601	1	Abnormal amplification of a CTG repeat on chromosome 19 is the molecular basis of myotonic dystrophy DM.	83	100	18	myotonic dystrophy	textual - search yields 1 of 2 UMLS codes (C0027126). The second code has to do with muscular dystrophy and must be searched intuitively.	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
420	7717396	2	We analyzed the entire protein-coding sequence of this gene by reverse-transcription PCR, SSCP, and DNA sequencing in five patients with different clinical expression of X-ALD and in their female relatives; these clinical expressions were cerebral childhood ALD, adrenomyeloneuropathy (AMN), and "Addison disease only" (ADO) phenotype.	171	175	3	X-ALD	intuitive: abstract defined Adrenoleukodsytrophy as "ALD".  A search of this text yields correct UMLS code, however, it also provides 1 other	T0000003 - C0162309,C0282525	Adrenoleukodystrophy, Adrenoleukodystrophy, Neonatal			
420	7717396	2	We analyzed the entire protein-coding sequence of this gene by reverse-transcription PCR, SSCP, and DNA sequencing in five patients with different clinical expression of X-ALD and in their female relatives; these clinical expressions were cerebral childhood ALD, adrenomyeloneuropathy (AMN), and "Addison disease only" (ADO) phenotype.	259	261	3	ALD	intuitive: abstract defined Adrenoleukodsytrophy as "ALD".  A search of this text yields correct UMLS code, however, it also provides 1 other	T0000003 - C0162309,C0282525	Adrenoleukodystrophy, Adrenoleukodystrophy, Neonatal			
420	7717396	2	We analyzed the entire protein-coding sequence of this gene by reverse-transcription PCR, SSCP, and DNA sequencing in five patients with different clinical expression of X-ALD and in their female relatives; these clinical expressions were cerebral childhood ALD, adrenomyeloneuropathy (AMN), and "Addison disease only" (ADO) phenotype.	287	289	3	AMN	textual - provides correct UMLS code, however, also yields 3 others	C1527231	Adrenomyeloneuropathy			
420	7717396	2	We analyzed the entire protein-coding sequence of this gene by reverse-transcription PCR, SSCP, and DNA sequencing in five patients with different clinical expression of X-ALD and in their female relatives; these clinical expressions were cerebral childhood ALD, adrenomyeloneuropathy (AMN), and "Addison disease only" (ADO) phenotype.	264	284	21	adrenomyeloneuropathy	textual	C1527231	Adrenomyeloneuropathy			
420	7717396	2	We analyzed the entire protein-coding sequence of this gene by reverse-transcription PCR, SSCP, and DNA sequencing in five patients with different clinical expression of X-ALD and in their female relatives; these clinical expressions were cerebral childhood ALD, adrenomyeloneuropathy (AMN), and "Addison disease only" (ADO) phenotype.	305	319	15	Addison disease	textual - provides correct UMLS code, however, also provides 2 others	C0001403	Addison`s disease			
421	7726234	1	We report on the first patient identified with myotonic dystrophy and Duchenne muscular dystrophy DMD.	99	101	3	DMD	textual - yields correct UMLS code, however, also provides 3 others	C0013264	Muscular Dystrophy, Duchenne			
421	7726234	1	We report on the first patient identified with myotonic dystrophy and Duchenne muscular dystrophy DMD.	48	65	18	myotonic dystrophy	textual - search yields 1 of 2 UMLS codes (C0027126). The second code has to do with muscular dystrophy and must be searched intuitively.	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
421	7726234	1	We report on the first patient identified with myotonic dystrophy and Duchenne muscular dystrophy DMD.	71	97	27	Duchenne muscular dystrophy	textual	C0013264	Muscular Dystrophy, Duchenne			
422	7759075	1	We searched for criteria that could indicate breast cancer families with a high prior probability of being caused by the breast/ovarian cancer susceptibility locus BRCA1 on chromosome 17.	122	142	21	breast/ovarian cancer	intuitive: list is present, a search of "breast cancer" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast			
422	7759075	1	We searched for criteria that could indicate breast cancer families with a high prior probability of being caused by the breast/ovarian cancer susceptibility locus BRCA1 on chromosome 17.	129	142	14	ovarian cancer	textual -   Search yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
423	7759075	5	An unexpectedly low proportion of the breast-ovarian cancer families were estimated to be linked to BRCA1, which could be due to a founder effect in the Dutch population.	39	59	21	breast-ovarian cancer	intuitive: list is present, a search of "breast cancer" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast			
423	7759075	5	An unexpectedly low proportion of the breast-ovarian cancer families were estimated to be linked to BRCA1, which could be due to a founder effect in the Dutch population.	46	59	14	ovarian cancer	textual -   Search yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
424	7759075	6	Given the expected logistical problems in clinical management now that BRCA1 has been identified, we propose an interim period in which only families with a strong positive family history for early onset breast and/or ovarian cancer will be offered BRCA1 mutation testing..	193	232	40	early onset breast and/or ovarian cancer	intuitive: text indicates early onset of a specific disease	C0814120	early disease onset			
424	7759075	6	Given the expected logistical problems in clinical management now that BRCA1 has been identified, we propose an interim period in which only families with a strong positive family history for early onset breast and/or ovarian cancer will be offered BRCA1 mutation testing..	205	232	28	breast and/or ovarian cancer	intuitive: list is present, a search of "breast cancer" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast			
424	7759075	6	Given the expected logistical problems in clinical management now that BRCA1 has been identified, we propose an interim period in which only families with a strong positive family history for early onset breast and/or ovarian cancer will be offered BRCA1 mutation testing..	219	232	14	ovarian cancer	textual -   Search yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
425	7759076	1	We have examined 26 Canadian families with hereditary breast or ovarian cancer for linkage to markers flanking the BRCA1 gene on chromosome 17q12-q21.	44	78	35	hereditary breast or ovarian cancer	intuitive: list is present, a search for "hereditary breast cancer" will yield correct UMLS code	C0346153	Familial cancer of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776		
425	7759076	1	We have examined 26 Canadian families with hereditary breast or ovarian cancer for linkage to markers flanking the BRCA1 gene on chromosome 17q12-q21.	55	78	24	breast or ovarian cancer	intuitive: list is present, a search of "breast cancer" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast			
425	7759076	1	We have examined 26 Canadian families with hereditary breast or ovarian cancer for linkage to markers flanking the BRCA1 gene on chromosome 17q12-q21.	65	78	14	ovarian cancer	textual -   Search yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
426	7759076	2	Of the 15 families that contain cases of ovarian cancer, 94% were estimated to be linked to BRCA1.	42	55	14	ovarian cancer	textual -   Search yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
427	7759076	4	A genetic recombinant in a breast-ovarian cancer family indicates a placement of BRCA1 telomeric to D17S776, and helps to define the region of assignment of the cancer susceptibility gene.	28	48	21	breast-ovarian cancer	intuitive: list is present, a search of "breast cancer" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast			
427	7759076	4	A genetic recombinant in a breast-ovarian cancer family indicates a placement of BRCA1 telomeric to D17S776, and helps to define the region of assignment of the cancer susceptibility gene.	35	48	14	ovarian cancer	textual -   Search yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
428	7759106	7	The high sequence identity between Hdh and the HD gene for approximately 200 bp 5' to the putative translation start site indicates that these sequences may play a role in regulating expression of the Huntington disease gene..	202	219	18	Huntington disease	textual - yields correct UMLS code, however, also  yields UMLS code for "HD gene	C0020179	Huntington Disease			
429	7761412	1	Lowe syndrome, also known as oculocerebrorenal syndrome, is caused by mutations in the X chromosome-encoded OCRL gene.	30	55	26	oculocerebrorenal syndrome	textual - yields correct UMLS code, however, also yields UMLS code for "[ C0812435 ] Chromosome 11p deletion syndrome	C0028860	Oculocerebrorenal Syndrome			
430	7762560	1	The association between normal alleles at the CTG repeat and two nearby polymorphisms in the myotonin protein kinase gene, the Alu insertion/deletion polymorphism and the myotonic dystrophy kinase DMK (G/T) intron 9/HinfI polymorphism, has been analyzed in South African Negroids, a population in which myotonic dystrophy (DM) has not been described.	324	325	2	DM	textual - search yields 1 of 2 UMLS codes (C0027126), however, also provides 8 other UMLS codes	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
430	7762560	1	The association between normal alleles at the CTG repeat and two nearby polymorphisms in the myotonin protein kinase gene, the Alu insertion/deletion polymorphism and the myotonic dystrophy kinase DMK (G/T) intron 9/HinfI polymorphism, has been analyzed in South African Negroids, a population in which myotonic dystrophy (DM) has not been described.	172	189	18	myotonic dystrophy	textual - search yields 1 of 2 UMLS codes (C0027126). The second code has to do with muscular dystrophy and must be searched intuitively.	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
430	7762560	1	The association between normal alleles at the CTG repeat and two nearby polymorphisms in the myotonin protein kinase gene, the Alu insertion/deletion polymorphism and the myotonic dystrophy kinase DMK (G/T) intron 9/HinfI polymorphism, has been analyzed in South African Negroids, a population in which myotonic dystrophy (DM) has not been described.	304	321	18	myotonic dystrophy	textual - search yields 1 of 2 UMLS codes (C0027126). The second code has to do with muscular dystrophy and must be searched intuitively.	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
431	7767095	1	A myotonic dystrophy (DM) family is described in which discordant DM phenotypes were found in the children of two affected sisters with similar CTG expansion and clinical manifestations.	23	24	2	DM	textual - search yields 1 of 2 UMLS codes (C0027126), however, also provides 8 other UMLS codes	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
431	7767095	1	A myotonic dystrophy (DM) family is described in which discordant DM phenotypes were found in the children of two affected sisters with similar CTG expansion and clinical manifestations.	67	68	2	DM	textual - search yields 1 of 2 UMLS codes (C0027126), however, also provides 8 other UMLS codes	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
431	7767095	1	A myotonic dystrophy (DM) family is described in which discordant DM phenotypes were found in the children of two affected sisters with similar CTG expansion and clinical manifestations.	3	20	18	myotonic dystrophy	textual - search yields 1 of 2 UMLS codes (C0027126). The second code has to do with muscular dystrophy and must be searched intuitively.	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
432	7769092	5	The seven deficient fibroblast lines were characterized by measuring acyl-coenzyme A dehydrogenation activities, overall palmitic acid oxidation, and VLCAD protein synthesis using pulse-chase, further confirming the diagnosis of VLCAD deficiency.	230	245	16	VLCAD deficiency	textual - was not annotated		Very long chain acyl-CoA dehydrogenase deficiency	C0342784		
433	7769092	7	Clinically, all patients with VLCAD deficiency exhibited cardiac disease.	31	46	16	VLCAD deficiency	textual - was not annotated		Very long chain acyl-CoA dehydrogenase deficiency	C0342784		
433	7769092	7	Clinically, all patients with VLCAD deficiency exhibited cardiac disease.	58	72	15	cardiac disease	textual	C0018799	Heart Diseases			
434	777027	6	Sera from eight family members who were apparently heterozygous for C5 deficiency gave normal chemotactic scores.	69	81	13	C5 deficiency	textual	C1332657	COMPLEMENT COMPONENT 5 DEFICIENCY			
435	7790377	16	The PTS1R cDNA also complements the PTS1 protein-import defect in skin fibroblasts from patients--belonging to complementation group two--diagnosed as having neonatal adrenoleukodystrophy or Zellweger syndrome.	168	187	20	adrenoleukodystrophy	textual - yields only 1 of 2 UMLS codes (C0162309).  This search also yields 1 other code.	T0000003 - C0162309,C0282525	Adrenoleukodystrophy, Adrenoleukodystrophy, Neonatal			
435	7790377	16	The PTS1R cDNA also complements the PTS1 protein-import defect in skin fibroblasts from patients--belonging to complementation group two--diagnosed as having neonatal adrenoleukodystrophy or Zellweger syndrome.	192	209	18	Zellweger syndrome	textual	C0043459	Zellweger Syndrome			
436	7795591	1	Germline mutations in the RB1 gene confer hereditary predisposition to retinoblastoma.	72	85	14	retinoblastoma	textual - provides correct UMLS code, however, also provides 1 other code (the code for the gene mentioned, RB1)	C0035335	Retinoblastoma			
437	7795591	2	We have performed a mutation survey of the RB1 gene in 232 patients with hereditary or non hereditary retinoblastoma.	92	116	25	hereditary retinoblastoma	textual	C0751483	Familial Retinoblastoma			
438	7795596	1	Current evidence suggests that aniridia (absence of iris) is caused by loss of function of one copy of the PAX6 gene, which maps to 11p13.	32	39	8	aniridia	textual	C0003076	Aniridia			
439	7795596	2	We present the further characterisation of two aniridia pedigrees in which the disease segregates with chromosomal rearrangements which involve 11p13 but do not disrupt the PAX6 gene.	48	55	8	aniridia	textual	C0003076	Aniridia			
440	7795652	1	The BRCA1 gene on chromosome 17q21 is responsible for an autosomal dominant syndrome of increased susceptibility to breast and ovarian cancer but no somatic mutations in tumours have yet been described.	117	141	25	breast and ovarian cancer	intuitive: list is present, a search of "breast cancer" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
440	7795652	1	The BRCA1 gene on chromosome 17q21 is responsible for an autosomal dominant syndrome of increased susceptibility to breast and ovarian cancer but no somatic mutations in tumours have yet been described.	128	141	14	ovarian cancer	textual -   Search yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
441	7795652	2	To study the potential role of BRCA1 in sporadic carcinogenesis, we analysed the genomic DNA of tumour and normal fractions of 47 ovarian cancers for mutations in BRCA1 using the single-strand conformation polymorphism technique.	50	63	14	carcinogenesis	textual	C0596263	Carcinogenesis			
441	7795652	2	To study the potential role of BRCA1 in sporadic carcinogenesis, we analysed the genomic DNA of tumour and normal fractions of 47 ovarian cancers for mutations in BRCA1 using the single-strand conformation polymorphism technique.	131	145	15	ovarian cancers	textual -   Search yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
442	7795652	4	Our data support a tumour suppressor mechanism for BRCA1; somatic mutations and LOH may result in inactivation of BRCA1 in at least a small number of ovarian cancers..	151	165	15	ovarian cancers	textual -   Search yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
443	7795653	1	We have characterized expression of the familial breast and ovarian cancer gene, BRCA1, in cases of non-hereditary (sporadic) breast cancer and analyzed the effect of antisense inhibition of BRCA1 on the proliferative rate of mammary epithelial cells.	41	74	34	familial breast and ovarian cancer	intuitive: list is present, a search for "hereditary breast cancer" will yield correct UMLS code	C0346153	Familial cancer of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
443	7795653	1	We have characterized expression of the familial breast and ovarian cancer gene, BRCA1, in cases of non-hereditary (sporadic) breast cancer and analyzed the effect of antisense inhibition of BRCA1 on the proliferative rate of mammary epithelial cells.	50	74	25	breast and ovarian cancer	intuitive: list is present, a search of "breast cancer" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast			
443	7795653	1	We have characterized expression of the familial breast and ovarian cancer gene, BRCA1, in cases of non-hereditary (sporadic) breast cancer and analyzed the effect of antisense inhibition of BRCA1 on the proliferative rate of mammary epithelial cells.	61	74	14	ovarian cancer	textual -   Search yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
443	7795653	1	We have characterized expression of the familial breast and ovarian cancer gene, BRCA1, in cases of non-hereditary (sporadic) breast cancer and analyzed the effect of antisense inhibition of BRCA1 on the proliferative rate of mammary epithelial cells.	127	139	13	breast cancer	textual - yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast			
444	7802009	1	A pair of female monozygotic (MZ) twins, heterozygous carriers for a deletion in the DMD gene and discordant for the clinical manifestations of Duchenne muscular dystrophy, were analyzed by molecular studies, in situ hybridization, and methylation pattern of X chromosomes to search for opposite X inactivation as an explanation of their clinical discordance.	145	171	27	Duchenne muscular dystrophy	textual	C0013264	Muscular Dystrophy, Duchenne			
445	7811247	1	Fragments of the adrenoleukodystrophy (ALD) cDNA from a patient with adolescent ALD were amplified by polymerase chain reaction and subcloned.	40	42	3	ALD	textual - yields only 1 of 2 UMLS codes (C0162309). This search also yields 1 other code.	T0000003 - C0162309,C0282525	Adrenoleukodystrophy, Adrenoleukodystrophy, Neonatal			
445	7811247	1	Fragments of the adrenoleukodystrophy (ALD) cDNA from a patient with adolescent ALD were amplified by polymerase chain reaction and subcloned.	81	83	3	ALD	textual - yields only 1 of 2 UMLS codes (C0162309). This search also yields 1 other code.	T0000003 - C0162309,C0282525	Adrenoleukodystrophy, Adrenoleukodystrophy, Neonatal			
445	7811247	1	Fragments of the adrenoleukodystrophy (ALD) cDNA from a patient with adolescent ALD were amplified by polymerase chain reaction and subcloned.	18	37	20	adrenoleukodystrophy	textual - yields only 1 of 2 UMLS codes (C0162309).  This search also yields 1 other code.	T0000003 - C0162309,C0282525	Adrenoleukodystrophy, Adrenoleukodystrophy, Neonatal			
446	7811247	3	Five of nine siblings of the patient, comprising two cerebral ALD, one adrenomyeloneuropathy, one Addison only as well as the symptomatic mother (all accumulating very long chain fatty acids) carried this mutation, which was not found in the unaffected persons, in five unrelated ALD patients, and in twenty controls.	63	65	3	ALD	intuitive: abstract defined ALD as adrenoleukodystrophy. Text yields UMLS code for Adrenoleukodystrophy and 1 other		Adrenoleukodystrophy	C0162309		
446	7811247	3	Five of nine siblings of the patient, comprising two cerebral ALD, one adrenomyeloneuropathy, one Addison only as well as the symptomatic mother (all accumulating very long chain fatty acids) carried this mutation, which was not found in the unaffected persons, in five unrelated ALD patients, and in twenty controls.	281	283	3	ALD	intuitive: abstract defined ALD as adrenoleukodystrophy. Text yields UMLS code for Adrenoleukodystrophy and 1 other		Adrenoleukodystrophy	C0162309		
446	7811247	3	Five of nine siblings of the patient, comprising two cerebral ALD, one adrenomyeloneuropathy, one Addison only as well as the symptomatic mother (all accumulating very long chain fatty acids) carried this mutation, which was not found in the unaffected persons, in five unrelated ALD patients, and in twenty controls.	72	92	21	adrenomyeloneuropathy	textual	C1527231	Adrenomyeloneuropathy			
447	7814011	1	We have identified a new mutation of Norrie disease (ND) gene in two Japanese males from unrelated families; they showed typical ocular features of ND but no mental retardation or hearing impairment.	149	150	2	ND	textual - yields correct UMLS code, however, also provides 4 others	C0266526	NORRIE DISEASE			
447	7814011	1	We have identified a new mutation of Norrie disease (ND) gene in two Japanese males from unrelated families; they showed typical ocular features of ND but no mental retardation or hearing impairment.	38	51	14	Norrie disease	textual	C0266526	NORRIE DISEASE			
447	7814011	1	We have identified a new mutation of Norrie disease (ND) gene in two Japanese males from unrelated families; they showed typical ocular features of ND but no mental retardation or hearing impairment.	159	176	18	mental retardation	textual	C0025362	Mental Retardation			
447	7814011	1	We have identified a new mutation of Norrie disease (ND) gene in two Japanese males from unrelated families; they showed typical ocular features of ND but no mental retardation or hearing impairment.	181	198	18	hearing impairment	textual - yields 1 of 2 UMLS codes (C1384666)	T0000017 - C0260662, C1384666	Hearing problem - hearing impairment			
448	7815415	1	We have re-examined an extended myotonic dystrophy (DM) family, previously described in 1955, in order to study the long term effects of anticipation in DM and in particular the implications for families affected by this disease.	53	54	2	DM	textual - search yields 1 of 2 UMLS codes (C0027126), however, also provides 8 other UMLS codes	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
448	7815415	1	We have re-examined an extended myotonic dystrophy (DM) family, previously described in 1955, in order to study the long term effects of anticipation in DM and in particular the implications for families affected by this disease.	154	155	2	DM	textual - search yields 1 of 2 UMLS codes (C0027126), however, also provides 8 other UMLS codes	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
448	7815415	1	We have re-examined an extended myotonic dystrophy (DM) family, previously described in 1955, in order to study the long term effects of anticipation in DM and in particular the implications for families affected by this disease.	33	50	18	myotonic dystrophy	textual - search yields 1 of 2 UMLS codes (C0027126). The second code has to do with muscular dystrophy and must be searched intuitively.	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
449	7825578	7	The SCA3 locus remains within the 29-cM region on 14q24.3-q32.2 containing the gene for the Machado-Joseph disease, which is clinically related to the phenotype determined by SCA3, but it cannot yet be concluded that both diseases result from alterations of the same gene..	93	114	22	Machado-Joseph disease	textual	C0024408	Machado-Joseph Disease			
450	7825586	7	None of the 13 families with cases of male breast cancer appear to be linked, but it is estimated that 92% (95% confidence interval 76%-100%) of families with no male breast cancer and with two or more ovarian cancers are linked to BRCA1.	39	56	18	male breast cancer	textual - yields 1 of 4 UMLS codes C0238033 Carcinoma of Male Breast	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast			
450	7825586	7	None of the 13 families with cases of male breast cancer appear to be linked, but it is estimated that 92% (95% confidence interval 76%-100%) of families with no male breast cancer and with two or more ovarian cancers are linked to BRCA1.	163	180	18	male breast cancer	textual - yields 1 of 4 UMLS codes C0238033 Carcinoma of Male Breast	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast			
450	7825586	7	None of the 13 families with cases of male breast cancer appear to be linked, but it is estimated that 92% (95% confidence interval 76%-100%) of families with no male breast cancer and with two or more ovarian cancers are linked to BRCA1.	203	217	15	ovarian cancers	textual -   Search yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
451	7825586	9	However, the large majority of families with early-onset breast cancer and with two or more cases of ovarian cancer are likely to be due to BRCA1 mutations..	58	70	13	breast cancer	textual - yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast			
451	7825586	9	However, the large majority of families with early-onset breast cancer and with two or more cases of ovarian cancer are likely to be due to BRCA1 mutations..	102	115	14	ovarian cancer	textual -   Search yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
452	7833921	4	Despite the early recognition of this disorder, the primary structure of human KHK and the molecular basis of essential fructosuria have not been previously defined.	121	131	11	fructosuria	textual - yields correct UMLS code, however, also yields UMLS code for "KHK" gene	C0268159	Fructosuria			
453	7833921	8	Direct evidence that mutation of the KHK structural gene is the cause of essential fructosuria was also obtained.	84	94	11	fructosuria	textual - yields correct UMLS code, however, also yields UMLS code for "KHK" gene	C0268159	Fructosuria			
454	7857677	1	Gaucher disease (GD) is an inherited deficiency of beta-glucocerebrosidase EC 3.1.2.45, gene symbol GBA.	18	19	2	GD	textual - yields Wrong UMLS code	C0017205	Gaucher Disease			
454	7857677	1	Gaucher disease (GD) is an inherited deficiency of beta-glucocerebrosidase EC 3.1.2.45, gene symbol GBA.	1	15	15	Gaucher disease	textual	C0017205	Gaucher Disease			
454	7857677	1	Gaucher disease (GD) is an inherited deficiency of beta-glucocerebrosidase EC 3.1.2.45, gene symbol GBA.	1	47	47	Gaucher disease (GD) is an inherited deficiency	intuitive: text is stating that the specific disease is hereditary	C0019247	Hereditary Diseases			
455	7858169	1	Metachromatic Leukodystrophy (MLD) is a neurodegenerative disease in which the lysosomal enzyme, Aryl sulfatase A (ARSA) is deficient.	31	33	3	MLD	textual - yields correct UMLS code, however, also provides 1 other	C0023522	Leukodystrophy, Metachromatic			
455	7858169	1	Metachromatic Leukodystrophy (MLD) is a neurodegenerative disease in which the lysosomal enzyme, Aryl sulfatase A (ARSA) is deficient.	1	28	28	Metachromatic Leukodystrophy	textual	C0023522	Leukodystrophy, Metachromatic			
455	7858169	1	Metachromatic Leukodystrophy (MLD) is a neurodegenerative disease in which the lysosomal enzyme, Aryl sulfatase A (ARSA) is deficient.	41	65	25	neurodegenerative disease	textual	C0524851	Neurodegenerative Disorders			
455	7858169	1	Metachromatic Leukodystrophy (MLD) is a neurodegenerative disease in which the lysosomal enzyme, Aryl sulfatase A (ARSA) is deficient.	98	133	36	Aryl sulfatase A (ARSA) is deficient	intuitive: was not annotated, text states that a specific enzyme is deficient		Enzyme Deficiency	C0149676		
456	7874117	1	Kniest dysplasia is a moderately severe chondrodysplasia phenotype that results from mutations in the gene for type II collagen, COL2A1.	1	16	16	Kniest dysplasia	textual	C0265279	Kniest dysplasia			
456	7874117	1	Kniest dysplasia is a moderately severe chondrodysplasia phenotype that results from mutations in the gene for type II collagen, COL2A1.	41	56	16	chondrodysplasia	textual	C0343284	Chondrodysplasia, unspecified			
457	7874163	1	We have identified a novel gene containing CAG repeats and mapped it to chromosome 14q32.1, the genetic locus for Machado-Joseph disease MJD.	138	140	3	MJD	textual	C0024408	Machado-Joseph Disease			
457	7874163	1	We have identified a novel gene containing CAG repeats and mapped it to chromosome 14q32.1, the genetic locus for Machado-Joseph disease MJD.	115	136	22	Machado-Joseph disease	textual	C0024408	Machado-Joseph Disease			
458	7894491	1	We analysed 50 probands with a family history of breast and/or ovarian cancer for germline mutations in the coding region of the BRCA1 candidate gene, using single-strand conformation polymorphism (SSCP) analysis on PCR-amplified genomic DNA.	50	77	28	breast and/or ovarian cancer	intuitive: list is present, a search for "hereditary breast cancer" will yield correct UMLS code	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
458	7894491	1	We analysed 50 probands with a family history of breast and/or ovarian cancer for germline mutations in the coding region of the BRCA1 candidate gene, using single-strand conformation polymorphism (SSCP) analysis on PCR-amplified genomic DNA.	64	77	14	ovarian cancer	intuitive:	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
459	7894493	1	We provide genetic evidence supporting the identity of the candidate gene for BRCA1 through the characterization of germline mutations in 63 breast cancer patients and 10 ovarian cancer patients in ten families with cancer linked to chromosome 17q21.	142	154	13	breast cancer	textual - yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast			
459	7894493	1	We provide genetic evidence supporting the identity of the candidate gene for BRCA1 through the characterization of germline mutations in 63 breast cancer patients and 10 ovarian cancer patients in ten families with cancer linked to chromosome 17q21.	172	185	14	ovarian cancer	textual -   Search yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
460	7909252	1	The mutation causing myotonic dystrophy (DM) has been identified as an amplification of an unstable trinucleotide (CTG)n repeat in over 99% of the global DM population.	42	43	2	DM	textual - search yields 1 of 2 UMLS codes (C0027126), however, also provides 8 other UMLS codes	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
460	7909252	1	The mutation causing myotonic dystrophy (DM) has been identified as an amplification of an unstable trinucleotide (CTG)n repeat in over 99% of the global DM population.	155	156	2	DM	textual - search yields 1 of 2 UMLS codes (C0027126), however, also provides 8 other UMLS codes	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
460	7909252	1	The mutation causing myotonic dystrophy (DM) has been identified as an amplification of an unstable trinucleotide (CTG)n repeat in over 99% of the global DM population.	22	39	18	myotonic dystrophy	textual - search yields 1 of 2 UMLS codes (C0027126). The second code has to do with muscular dystrophy and must be searched intuitively.	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
461	7937795	7	The genetic instability observed in the tumor and cell line DNA, together with the germ-line mutation in a mismatch-repair gene, suggest that the MSH2 gene is involved in the onset and/or progression in a subset of ovarian cancer..	216	229	14	ovarian cancer	textual -   Search yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
462	7939630	1	Loss of heterozygosity data from familial tumors suggest that BRCA1, a gene that confers susceptibility to ovarian and early-onset breast cancer, encodes a tumor suppressor.	108	144	37	ovarian and early-onset breast cancer	intuitive: list is present, a search of "ovarian cancer" yields both UMLS codes	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
462	7939630	1	Loss of heterozygosity data from familial tumors suggest that BRCA1, a gene that confers susceptibility to ovarian and early-onset breast cancer, encodes a tumor suppressor.	132	144	13	breast cancer	textual - yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast			
463	7939630	2	The BRCA1 region is also subject to allelic loss in sporadic breast and ovarian cancers, an indication that BRCA1 mutations may occur somatically in these tumors.	53	87	35	sporadic breast and ovarian cancers	intuitive: list is present, a search of "breast cancer" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	C1336076 -Sporadic Breast Carcinoma		
463	7939630	2	The BRCA1 region is also subject to allelic loss in sporadic breast and ovarian cancers, an indication that BRCA1 mutations may occur somatically in these tumors.	53	87	35	sporadic breast and ovarian cancers	intuitve - coordination present   could not find suitable UMLS code for sporadic ovarian cancer. 	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
464	7939630	5	These results suggest that mutation of BRCA1 may not be critical in the development of the majority of breast and ovarian cancers that arise in the absence of a mutant germline allele..	104	129	26	breast and ovarian cancers	intuitive: list is present, a search of "breast cancer" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast			
464	7939630	5	These results suggest that mutation of BRCA1 may not be critical in the development of the majority of breast and ovarian cancers that arise in the absence of a mutant germline allele..	115	129	15	ovarian cancers	textual -   Search yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
465	7951315	1	The human eye malformation aniridia results from haploinsufficiency of PAX6, a paired box DNA-binding protein.	28	35	8	aniridia	textual	C0003076	Aniridia			
466	7951315	2	To study this dosage effect, we characterized two PAX6 mutations in a family segregating aniridia and a milder syndrome consisting of congenital cataracts and late onset corneal dystrophy.	90	97	8	aniridia	textual	C0003076	Aniridia			
466	7951315	2	To study this dosage effect, we characterized two PAX6 mutations in a family segregating aniridia and a milder syndrome consisting of congenital cataracts and late onset corneal dystrophy.	135	154	20	congenital cataracts	textual - provides 1 of 2 UMLS codes (C0009691). This query also yields one other UMLS code for "CCAT gene [C1442859]	T0000006 - C0086543, C0009691	cataract - Congenital cataracts			
466	7951315	2	To study this dosage effect, we characterized two PAX6 mutations in a family segregating aniridia and a milder syndrome consisting of congenital cataracts and late onset corneal dystrophy.	160	187	29	late onset corneal dystrophy.	intuitive: text state the late onset of a specific disease	C0376415	Late-Onset Disorders			
466	7951315	2	To study this dosage effect, we characterized two PAX6 mutations in a family segregating aniridia and a milder syndrome consisting of congenital cataracts and late onset corneal dystrophy.	171	187	17	corneal dystrophy	textual - yields correct UMLS code, however, also yields 1 other code for "Hereditary corneal dystrophy" [ C0010035 ]	C0010036	Corneal dystrophy	C0010035		
467	7951316	1	We have constructed a physical map of a 4 cM region on chromosome 17q12-21 that contains the hereditary breast and ovarian cancer gene BRCA1.	94	129	36	hereditary breast and ovarian cancer	intuitive: list is present, a search for "hereditary breast cancer" will yield correct UMLS code	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
467	7951316	1	We have constructed a physical map of a 4 cM region on chromosome 17q12-21 that contains the hereditary breast and ovarian cancer gene BRCA1.	94	129	25	hereditary breast and ovarian cancer	intuitive:	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
467	7951316	1	We have constructed a physical map of a 4 cM region on chromosome 17q12-21 that contains the hereditary breast and ovarian cancer gene BRCA1.	116	129	14	ovarian cancer	textual -   Search yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
468	7951327	2	We have cloned cDNAs for the rat gene (Atp7b) homologous to the human Wilson disease gene (ATP7B) and have used them to identify a partial deletion in the Atp7b gene in the LEC rat.	71	84	14	Wilson disease	textual	C0019202	Hepatolenticular Degeneration			
469	7959759	9	The frequent occurrence of color vision anomalies observed in patients with adrenomyeloneuropathy (the adult onset form of ALD) thus does not represent a contiguous gene syndrome but a secondary manifestation of ALD..	124	126	3	ALD	intuitive: was not annotated, the abstract defines ALD as adrenoleukodystrophy.  A search of this text yields the correct UMLS code, however, also yields 1 other		Adrenoleukodystrophy	C0162309		
469	7959759	9	The frequent occurrence of color vision anomalies observed in patients with adrenomyeloneuropathy (the adult onset form of ALD) thus does not represent a contiguous gene syndrome but a secondary manifestation of ALD..	213	215	3	ALD	intuitive: was not annotated, the abstract defines ALD as adrenoleukodystrophy.  A search of this text yields the correct UMLS code, however, also yields 1 other		Adrenoleukodystrophy	C0162309		
469	7959759	9	The frequent occurrence of color vision anomalies observed in patients with adrenomyeloneuropathy (the adult onset form of ALD) thus does not represent a contiguous gene syndrome but a secondary manifestation of ALD..	77	97	21	adrenomyeloneuropathy	textual	C1527231	Adrenomyeloneuropathy			
470	7959767	1	Huntington disease (HD) is a severe autosomal dominant neurodegenerative disorder associated with a novel gene IT15.	21	22	2	HD	textual - yields correct UMLS code, however, also yield 4 others	C0020179	Huntington Disease-			
470	7959767	1	Huntington disease (HD) is a severe autosomal dominant neurodegenerative disorder associated with a novel gene IT15.	1	18	18	Huntington disease	textual - yields correct UMLS code, however, also yields code for "HD gene	C0020179	Huntington Disease-			
470	7959767	1	Huntington disease (HD) is a severe autosomal dominant neurodegenerative disorder associated with a novel gene IT15.	37	81	45	autosomal dominant neurodegenerative disorder	intuitive: text states a specific "autosomal dominant hereditary disorder	C0265385	Autosomal dominant hereditary disorder			
470	7959767	1	Huntington disease (HD) is a severe autosomal dominant neurodegenerative disorder associated with a novel gene IT15.	56	81	26	neurodegenerative disorder	textual - yields correct UMLS code, however, also yields UMLS code for [ C1522560 ] Neurodegenerative Disorders Pathway	C0524851	Neurodegenerative Disorders			
471	7962532	13	CETP deficiency, reflecting two prevalent mutations (D442G and Int14 A), is the first example of a genetic deficiency state which is sufficiently common to explain a significant fraction of the variation in HDL-C in the general population..	1	15	15	CETP deficiency	intuitive: CETP is defined as a specific type of protein in the abstract.  The query of this text provides a more specific UMLS code for "CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY	C0033626	Protein Deficiency	C1846485		
472	7964884	1	Treatments by oral administration of chenodeoxycholic acid (CDCA) alone, 3-hydroxy-3-methylglutaryl (HMG) CoA reductase inhibitor (pravastatin) alone, and combination of the two drugs were attempted for 7 patients with cerebrotendinous xanthomatosis CTX.	251	253	3	CTX	textual - yields correct UMLS code, however, also yields 2 others	C0238052	Xanthomatosis, Cerebrotendinous			
472	7964884	1	Treatments by oral administration of chenodeoxycholic acid (CDCA) alone, 3-hydroxy-3-methylglutaryl (HMG) CoA reductase inhibitor (pravastatin) alone, and combination of the two drugs were attempted for 7 patients with cerebrotendinous xanthomatosis CTX.	220	249	30	cerebrotendinous xanthomatosis	textual	C0238052	Xanthomatosis, Cerebrotendinous			
473	7981671	8	Interestingly, all CHM gene mutations detected thus far in choroideremia patients give rise to the introduction of a premature stop codon..	60	72	13	choroideremia	textual	C0008525	Choroideremia			
474	7991123	2	The phenotypic expression is highly variable, childhood cerebral ALD (CCALD) and adrenomyeloneuropathy (AMN) being the main variants.	66	68	3	ALD	intuitive: abstract defined Adrenoleukodsytrophy as "ALD".  A search of this text yields correct UMLS code, however, it also provides 1 other	T0000003 - C0162309,C0282525	Adrenoleukodystrophy, Adrenoleukodystrophy, Neonatal			
474	7991123	2	The phenotypic expression is highly variable, childhood cerebral ALD (CCALD) and adrenomyeloneuropathy (AMN) being the main variants.	105	107	3	AMN	textual - provides correct UMLS code, however, also yields 3 others	C1527231	Adrenomyeloneuropathy			
474	7991123	2	The phenotypic expression is highly variable, childhood cerebral ALD (CCALD) and adrenomyeloneuropathy (AMN) being the main variants.	82	102	21	adrenomyeloneuropathy	textual	C1527231	Adrenomyeloneuropathy			
475	8002973	1	An antibody against the synthetic C-terminal peptides deduced from the cDNA of the gene responsible for X-linked adrenoleukodystrophy (ALD) was produced to characterize the product of the ALD gene.	136	138	3	ALD	textual - yields only 1 of 2 UMLS codes (C0162309). This search also yields 1 other code.	T0000003 - C0162309,C0282525	Adrenoleukodystrophy, Adrenoleukodystrophy, Neonatal			
475	8002973	1	An antibody against the synthetic C-terminal peptides deduced from the cDNA of the gene responsible for X-linked adrenoleukodystrophy (ALD) was produced to characterize the product of the ALD gene.	114	133	20	adrenoleukodystrophy	textual - yields only 1 of 2 UMLS codes (C0162309). This search also yields 1 other code.	T0000003 - C0162309,C0282525	Adrenoleukodystrophy, Adrenoleukodystrophy, Neonatal			
476	8004674	4	The mRNA expression pattern of one of them, designated as XK, correlates closely to the McLeod phenotype.	89	94	6	McLeod	intuitive: McLeod Syndrome is mentioned in the abstract.  A query of "McLeod Syndrome"  yields the appropriate UMLS code		Blood group deletion syndrome	C0398568		
477	8012387	3	A rare X-linked dysmyelinating disorder of the central nervous system, Pelizaeus-Merzbacher disease (PMD), has also been mapped to Xq21-q22, and is caused by mutations in the proteolipid protein gene (PLP) which encodes two myelin proteins, PLP and DM20.	102	104	3	PMD	textual - yields 1 of 2 UMLS codes (C0205711),  however, it also yields 2 others	T0000004 - C0751916,C0205711	Classic Pelizaeus-Merzbacher Disease, Pelizaeus-Merzbacher disease			
477	8012387	3	A rare X-linked dysmyelinating disorder of the central nervous system, Pelizaeus-Merzbacher disease (PMD), has also been mapped to Xq21-q22, and is caused by mutations in the proteolipid protein gene (PLP) which encodes two myelin proteins, PLP and DM20.	3	39	37	rare X-linked dysmyelinating disorder	intuitive: the text is stating that a specific disease or disorder is rare	C0678236	Rare Diseases			
477	8012387	3	A rare X-linked dysmyelinating disorder of the central nervous system, Pelizaeus-Merzbacher disease (PMD), has also been mapped to Xq21-q22, and is caused by mutations in the proteolipid protein gene (PLP) which encodes two myelin proteins, PLP and DM20.	72	99	28	Pelizaeus-Merzbacher disease	textual - yields 1 of 2 UMLS codes (C0205711)	T0000004 - C0751916,C0205711	Classic Pelizaeus-Merzbacher Disease, Pelizaeus-Merzbacher disease			
478	8023850	1	Canavan disease is an autosomal recessive leukodystrophy caused by the deficiency of aspartoacylase ASPA.	1	15	15	Canavan disease	textual	C0206307	Canavan Disease			
478	8023850	1	Canavan disease is an autosomal recessive leukodystrophy caused by the deficiency of aspartoacylase ASPA.	43	56	14	leukodystrophy	textual	C0023520	Leucodystrophy NOS			
478	8023850	1	Canavan disease is an autosomal recessive leukodystrophy caused by the deficiency of aspartoacylase ASPA.	72	99	28	deficiency of aspartoacylase	textual	C0206307	Canavan Disease			
478	8023850	1	Canavan disease is an autosomal recessive leukodystrophy caused by the deficiency of aspartoacylase ASPA.	72	99	28	deficiency of aspartoacylase	intuitive: text states a deficiency of a specific enzyme	C0149676	Enzyme Deficiency			
479	8071955	1	An abbreviated Wechsler Adult Intelligence Scale Revised (WAIS-R) was used to assess verbal and arithmetical cognitive performance in 55 subjects with myotonic dystrophy (DM), covering all grades of disease severity, and 31 controls at 50% risk of inheriting DM.	172	173	2	DM	textual - search yields 1 of 2 UMLS codes (C0027126), however, also provides 8 other UMLS codes	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
479	8071955	1	An abbreviated Wechsler Adult Intelligence Scale Revised (WAIS-R) was used to assess verbal and arithmetical cognitive performance in 55 subjects with myotonic dystrophy (DM), covering all grades of disease severity, and 31 controls at 50% risk of inheriting DM.	260	261	2	DM	textual - search yields 1 of 2 UMLS codes (C0027126), however, also provides 8 other UMLS codes	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
479	8071955	1	An abbreviated Wechsler Adult Intelligence Scale Revised (WAIS-R) was used to assess verbal and arithmetical cognitive performance in 55 subjects with myotonic dystrophy (DM), covering all grades of disease severity, and 31 controls at 50% risk of inheriting DM.	152	169	18	myotonic dystrophy	textual - search yields 1 of 2 UMLS codes (C0027126). The second code has to do with muscular dystrophy and must be searched intuitively.	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
480	8071957	2	A high risk of colorectal cancer was predicted when an interstitial deletion of the long arm of chromosome 5, del 5 (q15q22.3), was detected in her lymphocytes and deletion of the MCC and APC genes confirmed by molecular analysis.	16	32	17	colorectal cancer	textual - search yields 2 out of 3 UMLS codes, does not yield C0346629	T0000016 - C0346629,C0009402,C1527249	Malignant neoplasm of large intestine - group name			
481	8075631	2	We have examined 22 families with at least one case of male breast cancer for linkage to the hereditary breast and ovarian cancer locus, BRCA1, on chromosome 17q.	56	73	18	male breast cancer	textual - yields 1 of 4 UMLS codes [ C0238033 ] Carcinoma of Male Breast	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast			
481	8075631	2	We have examined 22 families with at least one case of male breast cancer for linkage to the hereditary breast and ovarian cancer locus, BRCA1, on chromosome 17q.	61	73	13	breast cancer	textual - yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast			
481	8075631	2	We have examined 22 families with at least one case of male breast cancer for linkage to the hereditary breast and ovarian cancer locus, BRCA1, on chromosome 17q.	94	129	36	hereditary breast and ovarian cancer	intuitive: list is present, a search for "hereditary breast cancer" will yield correct UMLS code	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
481	8075631	2	We have examined 22 families with at least one case of male breast cancer for linkage to the hereditary breast and ovarian cancer locus, BRCA1, on chromosome 17q.	94	129	36	hereditary breast and ovarian cancer	intuitive:	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
482	8084618	1	The EWS gene, which maps to band q12 of human chromosome 22, is involved in a wide variety of human solid tumors including Ewing sarcoma, related primitive neuroectodermal tumors, malignant melanoma of soft parts and desmoplastic small round cell tumors.	101	112	12	solid tumors	textual	C0280100	Solid tumour			
482	8084618	1	The EWS gene, which maps to band q12 of human chromosome 22, is involved in a wide variety of human solid tumors including Ewing sarcoma, related primitive neuroectodermal tumors, malignant melanoma of soft parts and desmoplastic small round cell tumors.	124	136	13	Ewing sarcoma	textual	C0553580	Ewings sarcoma			
482	8084618	1	The EWS gene, which maps to band q12 of human chromosome 22, is involved in a wide variety of human solid tumors including Ewing sarcoma, related primitive neuroectodermal tumors, malignant melanoma of soft parts and desmoplastic small round cell tumors.	147	178	32	primitive neuroectodermal tumors	textual - yields correct UMLS code, however, also yields 2 others - [ C0206093 ] Neuroectodermal Tumors and [ C0279980 ] Extraosseous Ewings sarcoma-primitive neuroepithelial tumor	C0206663	Neuroectodermal Tumor, Primitive	C0206093, C0279980		
482	8084618	1	The EWS gene, which maps to band q12 of human chromosome 22, is involved in a wide variety of human solid tumors including Ewing sarcoma, related primitive neuroectodermal tumors, malignant melanoma of soft parts and desmoplastic small round cell tumors.	181	198	18	malignant melanoma	textual - yields 1 of 2 UMLS codes (C0025202), however, also provides UMLS code for "Cutaneous Melanoma" possibly a synonym.	T0000025 - C0431097,C0025202	Malignant melanoma - melanoma	C0151779		
482	8084618	1	The EWS gene, which maps to band q12 of human chromosome 22, is involved in a wide variety of human solid tumors including Ewing sarcoma, related primitive neuroectodermal tumors, malignant melanoma of soft parts and desmoplastic small round cell tumors.	218	253	36	desmoplastic small round cell tumors	textual	C0281508	Desmoplastic small round cell tumor			
483	8088831	1	Canavan disease, or spongy degeneration of the brain, is a severe leukodystrophy caused by the deficiency of aspartoacylase ASPA.	1	15	15	Canavan disease	textual	C0206307	Canavan Disease			
483	8088831	1	Canavan disease, or spongy degeneration of the brain, is a severe leukodystrophy caused by the deficiency of aspartoacylase ASPA.	67	80	14	leukodystrophy	textual	C0023520	Leucodystrophy NOS			
483	8088831	1	Canavan disease, or spongy degeneration of the brain, is a severe leukodystrophy caused by the deficiency of aspartoacylase ASPA.	96	128	33	deficiency of aspartoacylase ASPA	intuitive: text states a deficiency of a specific enzyme	C0149676	Enzyme Deficiency			
483	8088831	1	Canavan disease, or spongy degeneration of the brain, is a severe leukodystrophy caused by the deficiency of aspartoacylase ASPA.	96	123	28	deficiency of aspartoacylase	textual	C0206307	Canavan Disease			
484	8088831	13	It should now be possible to identify mutations in the noncoding genomic sequences that lead to Canavan disease and to study the regulation of ASPA..	97	111	15	Canavan disease	textual	C0206307	Canavan Disease			
485	8088831	2	Recently, a missense mutation was identified in human ASPA coding sequence from patients with Canavan disease.	95	109	15	Canavan disease	textual	C0206307	Canavan Disease			
486	8098180	1	Myotonic dystrophy (DM) is a progressive neuromuscular disorder which results from elongations of an unstable (CTG)n repeat, located in the 3' untranslated region of the DM gene.	21	22	2	DM	textual - search yields 1 of 2 UMLS codes (C0027126), however, also provides 8 other UMLS codes	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
486	8098180	1	Myotonic dystrophy (DM) is a progressive neuromuscular disorder which results from elongations of an unstable (CTG)n repeat, located in the 3' untranslated region of the DM gene.	1	18	18	Myotonic dystrophy	textual - search yields 1 of 2 UMLS codes (C0027126). The second code has to do with muscular dystrophy and must be searched intuitively.	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
486	8098180	1	Myotonic dystrophy (DM) is a progressive neuromuscular disorder which results from elongations of an unstable (CTG)n repeat, located in the 3' untranslated region of the DM gene.	42	63	22	neuromuscular disorder	textual	C0027868	Neuromuscular Diseases			
487	8098245	5	The present study supports the view that circulating lymphocytes give easy access to PAH gene transcripts whose nucleotide sequence is identical to that reported in liver and therefore represent a useful tool for molecular genetic studies in phenylketonuria..	243	257	15	phenylketonuria	textual - yields 2 of 3 UMLS codes, Classical phenylketonuria and phenylketonurias.  Also provides code for "PAH gene	T0000019 - C1291306, C0031485, C0751434	Deficiency of phenylalanine 4-monooxygenase, Phenylketonurias, Classical phenylketonuria			
488	8101038	1	We identified a patient suffering from late-infantile metachromatic leukodystrophy (MLD) who has a residual arylsulfatase A (ARSA) activity of about 10%.	40	82	43	late-infantile metachromatic leukodystrophy	textual	C0751278	Metachromatic Leukodystrophy, Infant			
489	8104633	1	Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disorder caused by a deficiency of arylsulfatase A ARSA; EC 3.1.6.8.	31	33	3	MLD	textual - yields correct UMLS code, however, also yields 1 other	C0023522	Leukodystrophy, Metachromatic			
489	8104633	1	Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disorder caused by a deficiency of arylsulfatase A ARSA; EC 3.1.6.8.	1	28	28	Metachromatic leukodystrophy	textual	C0023522	Leukodystrophy, Metachromatic			
489	8104633	1	Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disorder caused by a deficiency of arylsulfatase A ARSA; EC 3.1.6.8.	62	87	26	lysosomal storage disorder	textual	C0085078	Lysosomal Storage Diseases			
489	8104633	1	Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disorder caused by a deficiency of arylsulfatase A ARSA; EC 3.1.6.8.	101	127	27	deficiency of arylsulfatase	textual	C1283613	Deficiency of arylsulfatase			
490	8104633	2	The 8 ARSA exons and adjacent intron boundaries from a patient with late-infantile metachromatic leukodystrophy were polymerase chain reaction (PCR) amplified in seven discrete reactions.	69	111	43	late-infantile metachromatic leukodystrophy	textual	C0751278	Metachromatic Leukodystrophy, Infant			
491	8111379	1	The 14 exons of the PAX6 gene have been analysed exon-by-exon using SSCP in 6 aniridia families.	79	86	8	aniridia	textual - was not annotated		Aniridia	C0003076		
492	8111379	9	This data strongly supports the candidature of PAX6 as the gene responsible for hereditary aniridia..	92	99	8	aniridia	textual	C0003076	Aniridia			
493	8113388	1	A panel of eight unrelated subjects with inherited type I protein S deficiency was screened for mutations in the PROS1 gene.	59	78	20	protein S deficiency	textual	C0242666	Protein S Deficiency			
494	8116611	1	In myotonic dystrophy (DM), the size of a CTG repeat in the DM kinase gene generally increases in successive generations with clinical evidence of anticipation.	24	25	2	DM	textual - search yields 1 of 2 UMLS codes (C0027126), however, also provides 8 other UMLS codes	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
494	8116611	1	In myotonic dystrophy (DM), the size of a CTG repeat in the DM kinase gene generally increases in successive generations with clinical evidence of anticipation.	4	21	18	myotonic dystrophy	textual - search yields 1 of 2 UMLS codes (C0027126). The second code has to do with muscular dystrophy and must be searched intuitively.	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
495	8128954	1	Myotonic dystrophy (DM) is caused by abnormal expansion of a polymorphic (CTG)n repeat, located in the DM protein kinase gene.	21	22	2	DM	textual - search yields 1 of 2 UMLS codes (C0027126), however, also provides 8 other UMLS codes	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
495	8128954	1	Myotonic dystrophy (DM) is caused by abnormal expansion of a polymorphic (CTG)n repeat, located in the DM protein kinase gene.	1	18	18	Myotonic dystrophy	textual - search yields 1 of 2 UMLS codes (C0027126). The second code has to do with muscular dystrophy and must be searched intuitively.	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
496	8162051	1	Germline mutation in APC at 5q21-22 results in the dominantly inherited syndrome adenomatous polyposis coli APC.	109	111	3	APC	textual - yields Wrong UMLS codes	C0032580	Adenomatous Polyposis Coli			
496	8162051	1	Germline mutation in APC at 5q21-22 results in the dominantly inherited syndrome adenomatous polyposis coli APC.	82	107	26	adenomatous polyposis coli	textual	C0032580	Adenomatous Polyposis Coli			
497	8162071	1	Mutation or deletion of the PAX6 gene underlies many cases of aniridia.	63	70	8	aniridia	textual	C0003076	Aniridia			
498	8178825	1	Huntington disease (HD) has been shown to be associated with an expanded CAG repeat within a novel gene on 4p16.3 IT15.	21	22	2	HD	textual - yields correct UMLS code, however, also yield 4 others	C0020179	Huntington Disease			
498	8178825	1	Huntington disease (HD) has been shown to be associated with an expanded CAG repeat within a novel gene on 4p16.3 IT15.	1	18	18	Huntington disease	textual - yields correct UMLS code, however, also yields code for "HD gene	C0020179	Huntington Disease			
499	8187068	3	This same AR mutation has been reported previously in a metastatic prostate cancer cell line, LNCaP, where this mutation confers upon the AR an altered ligand-binding specificity which is stimulated by estrogens, progestagens, and antiandrogens.	57	82	26	metastatic prostate cancer	textual - yields 1 of 2 UMLS codes C0936223 [Prostate cancer metastatic]	T0000014- C0936223,C0376358	Malignant neoplasm of prostate - Prostate cancer metastatic	C0600139		
500	8187068	4	It is possible that analogous to an activated/altered growth factor receptor oncogene, codon 877 mutant AR with altered ligand binding may provide a selective growth advantage in the genesis of a subset of advanced prostate cancer.	207	230	24	advanced prostate cancer	intuitive: a query of "advanced cancer" will yield correct UMLS code	C0877373	Advanced cancer	T0000014- C0936223,C0376358		
501	8188241	1	Alkaptonuria (AKU; McKusick no. 203500) is a rare autosomal recessive disorder caused by the lack of homogentisic acid oxidase activity.	15	17	3	AKU	textual	C0002066	Alkaptonuria			
501	8188241	1	Alkaptonuria (AKU; McKusick no. 203500) is a rare autosomal recessive disorder caused by the lack of homogentisic acid oxidase activity.	1	12	12	Alkaptonuria	textual	C0002066	Alkaptonuria			
501	8188241	1	Alkaptonuria (AKU; McKusick no. 203500) is a rare autosomal recessive disorder caused by the lack of homogentisic acid oxidase activity.	46	78	33	rare autosomal recessive disorder	intuitive: text states a "rare disorder" or disease	C0678236	Rare Diseases			
501	8188241	1	Alkaptonuria (AKU; McKusick no. 203500) is a rare autosomal recessive disorder caused by the lack of homogentisic acid oxidase activity.	94	126	33	lack of homogentisic acid oxidase	intuitive: text states a deficiency of an oxidase	C1291312	Deficiency of oxidase			
502	8195156	1	Intestinal uptake of dietary glucose and galactose is mediated by the SGLT1 Na+/glucose cotransporter of the brush border.	0	0	0		No annotations.					
503	8195156	2	An SGLT1 missense mutation underlies hereditary glucose/galactose malabsorption, characterized by potentially fatal diarrhea; conversely, oral rehydration therapy exploits normal transport to alleviate life-threatening diarrhea of infectious origin.	38	79	42	hereditary glucose/galactose malabsorption	textual - however, "hereditary" must be replaced with "congenital" to yield correct UMLS code	C0268186	Congenital glucose-galactose malabsorption			
503	8195156	2	An SGLT1 missense mutation underlies hereditary glucose/galactose malabsorption, characterized by potentially fatal diarrhea; conversely, oral rehydration therapy exploits normal transport to alleviate life-threatening diarrhea of infectious origin.	117	124	8	diarrhea	textual - yields correct UMLS code, however, also yields UMLS code for [ C1963091 ] Diarrhea Adverse Event	C0011991	Diarrhea	C1963091		
503	8195156	2	An SGLT1 missense mutation underlies hereditary glucose/galactose malabsorption, characterized by potentially fatal diarrhea; conversely, oral rehydration therapy exploits normal transport to alleviate life-threatening diarrhea of infectious origin.	220	248	29	diarrhea of infectious origin	textual	C0013369	Dysentery			
504	8195156	3	We have mapped the entire human SGLT1 Na+/glucose cotransporter gene from cosmid and lambda phage clones representing a genomic region of 112 kilobases.	0	0	0		No annotations.					
505	8198124	1	Mutations at the PEPD locus cause prolidase deficiency (McKusick 170100), a rare autosomal recessive disorder characterized by iminodipeptiduria, skin ulcers, mental retardation, and recurrent infections.	35	54	20	prolidase deficiency	textual	C0268532	Deficiency of prolidase			
505	8198124	1	Mutations at the PEPD locus cause prolidase deficiency (McKusick 170100), a rare autosomal recessive disorder characterized by iminodipeptiduria, skin ulcers, mental retardation, and recurrent infections.	77	109	33	rare autosomal recessive disorder	intuitive: text states a "rare disorder" or disease	C0678236	Rare Diseases			
505	8198124	1	Mutations at the PEPD locus cause prolidase deficiency (McKusick 170100), a rare autosomal recessive disorder characterized by iminodipeptiduria, skin ulcers, mental retardation, and recurrent infections.	128	144	17	iminodipeptiduria	textual	C1534653	Hyperimidodipeptiduria			
505	8198124	1	Mutations at the PEPD locus cause prolidase deficiency (McKusick 170100), a rare autosomal recessive disorder characterized by iminodipeptiduria, skin ulcers, mental retardation, and recurrent infections.	147	157	11	skin ulcers	textual	C0037299	Skin Ulcer			
505	8198124	1	Mutations at the PEPD locus cause prolidase deficiency (McKusick 170100), a rare autosomal recessive disorder characterized by iminodipeptiduria, skin ulcers, mental retardation, and recurrent infections.	160	177	18	mental retardation	textual	C0025362	Mental Retardation			
505	8198124	1	Mutations at the PEPD locus cause prolidase deficiency (McKusick 170100), a rare autosomal recessive disorder characterized by iminodipeptiduria, skin ulcers, mental retardation, and recurrent infections.	194	203	10	infections	textual - search yields both UMLS codes, but also yields 2 other codes	T0000020 - C0021311,C0009450	Infection - Group name			
506	8198124	9	Our results indicate that the severe form of prolidase deficiency is caused by multiple PEPD alleles.	46	65	20	prolidase deficiency	textual	C0268532	Deficiency of prolidase			
507	8198128	1	The locus for Friedreich ataxia (FRDA), a severe neurodegenerative disease, is tightly linked to markers D9S5 and D9S15, and analysis of rare recombination events has suggested the order cen-FRDA-D9S5-D9S15-qter.	34	37	4	FRDA	textual - yields different UMLS code, possibly a synonym [ C1856689 ] FRIEDREICH ATAXIA 1	C0016719	Friedreich Ataxia	C1856689		
507	8198128	1	The locus for Friedreich ataxia (FRDA), a severe neurodegenerative disease, is tightly linked to markers D9S5 and D9S15, and analysis of rare recombination events has suggested the order cen-FRDA-D9S5-D9S15-qter.	15	31	17	Friedreich ataxia	textual	C0016719	Friedreich Ataxia			
507	8198128	1	The locus for Friedreich ataxia (FRDA), a severe neurodegenerative disease, is tightly linked to markers D9S5 and D9S15, and analysis of rare recombination events has suggested the order cen-FRDA-D9S5-D9S15-qter.	50	74	25	neurodegenerative disease	textual	C0524851	Neurodegenerative Disorders			
508	8209890	1	A survey instrument is used to assess temperature regulation characteristics in children with Prader-Willi syndrome (PWS) compared to 3 control groups: sibs of PWS patients (SIB), neurodevelopmentally handicapped children (ND), and age and gender matched well children WC.	118	120	3	PWS	textual	C0032897	Prader-Willi Syndrome			
508	8209890	1	A survey instrument is used to assess temperature regulation characteristics in children with Prader-Willi syndrome (PWS) compared to 3 control groups: sibs of PWS patients (SIB), neurodevelopmentally handicapped children (ND), and age and gender matched well children WC.	161	163	3	PWS	textual	C0032897	Prader-Willi Syndrome			
508	8209890	1	A survey instrument is used to assess temperature regulation characteristics in children with Prader-Willi syndrome (PWS) compared to 3 control groups: sibs of PWS patients (SIB), neurodevelopmentally handicapped children (ND), and age and gender matched well children WC.	95	115	21	Prader-Willi syndrome	textual	C0032897	Prader-Willi Syndrome			
509	8240110	1	BACKGROUND AND OBJECTIVES: Mutations of the peripherin/RDS gene have been reported in autosomal dominant retinitis pigmentosa, pattern macular dystrophy, and retinitis punctata albescens.	87	125	39	autosomal dominant retinitis pigmentosa	textual -  yields 1 of 2 UMLS codes (C0339525)	T0000022 - C0339525,C0035334	Autosomal dominant retinitis pigmentosa -			
509	8240110	1	BACKGROUND AND OBJECTIVES: Mutations of the peripherin/RDS gene have been reported in autosomal dominant retinitis pigmentosa, pattern macular dystrophy, and retinitis punctata albescens.	136	152	17	macular dystrophy	textual	C0730292	Macular dystrophy			
509	8240110	1	BACKGROUND AND OBJECTIVES: Mutations of the peripherin/RDS gene have been reported in autosomal dominant retinitis pigmentosa, pattern macular dystrophy, and retinitis punctata albescens.	159	186	28	retinitis punctata albescens	textual	C1405854	Retinitis punctata albescens			
510	8244393	1	The Na+/glucose cotransporter gene SGLT1 encodes the primary carrier protein responsible for the uptake of the dietary sugars glucose and galactose from the intestinal lumen.	0	0	0		No annotation.					
511	8244393	4	In two patients with the autosomal recessive disease glucose/galactose malabsorption, the underlying cause was found to be a missense mutation in SGLT1, and the Asp28--Asn change was demonstrated in vitro to eliminate SGLT1 transport activity.	26	84	59	autosomal recessive disease glucose/galactose malabsorption	intuitive: "autosomal recessive" indicates that it was hereditary or "congenital" a query of "congenital glucose/galactose malabsorption" yields correct UMLS code	C0268186	Congenital glucose-galactose malabsorption			
512	8252631	1	In humans, alteration of the tumor suppressor gene, APC, causes adenomatous polyposis coli, a condition causing predisposition to colorectal cancer.	65	90	26	adenomatous polyposis coli	textual	C0032580	Adenomatous Polyposis Coli			
512	8252631	1	In humans, alteration of the tumor suppressor gene, APC, causes adenomatous polyposis coli, a condition causing predisposition to colorectal cancer.	131	147	17	colorectal cancer	textual - search yields 2 out of 3 UMLS codes, does not yield C0346629	T0000016 - C0346629,C0009402,C1527249	Malignant neoplasm of large intestine - group name			
513	8258524	2	The authors' earlier findings of a negative electroretinogram (ERG) in a boy with Duchenne muscular dystrophy (DMD) led them to investigate dystrophin gene deletions and ERGs in five boys with DMD.	112	114	3	DMD	textual - yields correct UMLS code, however, also provides 3 others	C0013264	Muscular Dystrophy, Duchenne			
513	8258524	2	The authors' earlier findings of a negative electroretinogram (ERG) in a boy with Duchenne muscular dystrophy (DMD) led them to investigate dystrophin gene deletions and ERGs in five boys with DMD.	194	196	3	DMD	textual - yields correct UMLS code, however, also provides 3 others	C0013264	Muscular Dystrophy, Duchenne			
513	8258524	2	The authors' earlier findings of a negative electroretinogram (ERG) in a boy with Duchenne muscular dystrophy (DMD) led them to investigate dystrophin gene deletions and ERGs in five boys with DMD.	83	109	27	Duchenne muscular dystrophy	textual	C0013264	Muscular Dystrophy, Duchenne			
514	8259519	1	Mutations of APC appear to initiate sporadic and inherited forms of human colorectal cancer.	75	91	17	colorectal cancer	textual - search yields 2 out of 3 UMLS codes, does not yield C0346629	T0000016 - C0346629,C0009402,C1527249	Malignant neoplasm of large intestine - group name			
515	8266996	1	Abnormalities of chromosome region 15q11-13 are associated with Angelman syndrome (AS) and Prader-Willi syndrome PWS.	84	85	2	AS	textual - yields correct UMLS code, however, also yields 11 others	C0162635	Angelman Syndrome			
515	8266996	1	Abnormalities of chromosome region 15q11-13 are associated with Angelman syndrome (AS) and Prader-Willi syndrome PWS.	114	116	3	PWS	textual	C0032897	Prader-Willi Syndrome			
515	8266996	1	Abnormalities of chromosome region 15q11-13 are associated with Angelman syndrome (AS) and Prader-Willi syndrome PWS.	65	81	17	Angelman syndrome	textual	C0162635	Angelman Syndrome			
515	8266996	1	Abnormalities of chromosome region 15q11-13 are associated with Angelman syndrome (AS) and Prader-Willi syndrome PWS.	92	112	21	Prader-Willi syndrome	textual	C0032897	Prader-Willi Syndrome			
516	8279472	1	In 51 families with Wilson disease, we have studied DNA haplotypes of dinucleotide repeat polymorphisms (CA repeats) in the 13q14.3 region, to examine these markers for association with the Wilson disease gene WND.	21	34	14	Wilson disease	textual	C0019202	Hepatolenticular Degeneration			
516	8279472	1	In 51 families with Wilson disease, we have studied DNA haplotypes of dinucleotide repeat polymorphisms (CA repeats) in the 13q14.3 region, to examine these markers for association with the Wilson disease gene WND.	191	204	14	Wilson disease	textual	C0019202	Hepatolenticular Degeneration			
517	8281142	1	We have analyzed a single multi-affected breast/ovarian cancer pedigree (BOV3) and have shown consistent inheritance of markers on chromosome 17q with the disease confirming that this family is due to the BRCA1 gene.	42	62	21	breast/ovarian cancer	intuitive: list is present, a search of "breast cancer" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
517	8281142	1	We have analyzed a single multi-affected breast/ovarian cancer pedigree (BOV3) and have shown consistent inheritance of markers on chromosome 17q with the disease confirming that this family is due to the BRCA1 gene.	49	62	14	ovarian cancer	textual -   Search yields both UMLS codes.	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
518	8281152	2	Recent studies have demonstrated that this trinucleotide motif forms part of the last, 3' untranslated exon of a gene which potentially encodes multiple protein isoforms of a serine/threonine protein kinase myotonic dystrophy protein kinase, DM-PK.	208	225	18	myotonic dystrophy	textual - search yields 1 of 2 UMLS codes (C0027126). The second code has to do with muscular dystrophy and must be searched intuitively.	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
519	8282802	2	We investigated the metabolism of the HDL apolipoproteins (apo) apoA-I and apoA-II in a total of five patients with LCAT deficiency, one with classic LCAT deficiency and four with Fish-eye disease.	0	0	0			C0268239	Appears to be an invalid annotation.  Code corresponds with no UMLS entry			
519	8282802	2	We investigated the metabolism of the HDL apolipoproteins (apo) apoA-I and apoA-II in a total of five patients with LCAT deficiency, one with classic LCAT deficiency and four with Fish-eye disease.	117	131	15	LCAT deficiency	textual/intuitive - abstract defines "LCAT" as Lecithin Acyltransferase	C0023195	Lecithin Acyltransferase Deficiency			
519	8282802	2	We investigated the metabolism of the HDL apolipoproteins (apo) apoA-I and apoA-II in a total of five patients with LCAT deficiency, one with classic LCAT deficiency and four with Fish-eye disease.	151	165	15	LCAT deficiency	textual/intuitive - abstract defines "LCAT" as Lecithin Acyltransferase	C0023195	Lecithin Acyltransferase Deficiency			
519	8282802	2	We investigated the metabolism of the HDL apolipoproteins (apo) apoA-I and apoA-II in a total of five patients with LCAT deficiency, one with classic LCAT deficiency and four with Fish-eye disease.	181	196	16	Fish-eye disease	textual	C0342895	Fish-Eye Disease			
520	8282802	9	Because LpA-I has been proposed to be more protective than LpA-I:A-II against atherosclerosis, this selective effect on the metabolism of LpA-I:A-II may provide a potential explanation why patients with classic LCAT deficiency and Fish-eye disease are not at increased risk for premature atherosclerosis despite markedly decreased levels of HDL cholesterol and apoA-I..	0	0	0			C0268239	Appears to be an invalid annotation.  Code corresponds with no UMLS entry			
520	8282802	9	Because LpA-I has been proposed to be more protective than LpA-I:A-II against atherosclerosis, this selective effect on the metabolism of LpA-I:A-II may provide a potential explanation why patients with classic LCAT deficiency and Fish-eye disease are not at increased risk for premature atherosclerosis despite markedly decreased levels of HDL cholesterol and apoA-I..	79	93	15	atherosclerosis	textual	C0004153	Atherosclerosis			
520	8282802	9	Because LpA-I has been proposed to be more protective than LpA-I:A-II against atherosclerosis, this selective effect on the metabolism of LpA-I:A-II may provide a potential explanation why patients with classic LCAT deficiency and Fish-eye disease are not at increased risk for premature atherosclerosis despite markedly decreased levels of HDL cholesterol and apoA-I..	212	226	15	LCAT deficiency	textual/intuitive - abstract defines "LCAT" as Lecithin Acyltransferase	C0023195	Lecithin Acyltransferase Deficiency			
520	8282802	9	Because LpA-I has been proposed to be more protective than LpA-I:A-II against atherosclerosis, this selective effect on the metabolism of LpA-I:A-II may provide a potential explanation why patients with classic LCAT deficiency and Fish-eye disease are not at increased risk for premature atherosclerosis despite markedly decreased levels of HDL cholesterol and apoA-I..	232	247	16	Fish-eye disease	textual	C0342895	Fish-Eye Disease			
520	8282802	9	Because LpA-I has been proposed to be more protective than LpA-I:A-II against atherosclerosis, this selective effect on the metabolism of LpA-I:A-II may provide a potential explanation why patients with classic LCAT deficiency and Fish-eye disease are not at increased risk for premature atherosclerosis despite markedly decreased levels of HDL cholesterol and apoA-I..	289	303	15	atherosclerosis	textual	C0004153	Atherosclerosis			
521	8301658	4	Results of DNA analysis with the probe M27 beta are consistent with X linkage and indicate also that the locus of the relevant gene lies close to or is identical to the locus of the gene for the Wiskott-Aldrich syndrome WAS.	221	223	3	WAS	textual - does yield the correct code, but also yields 20 other codes	C0043194	Wiskott-Aldrich Syndrome			
521	8301658	4	Results of DNA analysis with the probe M27 beta are consistent with X linkage and indicate also that the locus of the relevant gene lies close to or is identical to the locus of the gene for the Wiskott-Aldrich syndrome WAS.	196	219	24	Wiskott-Aldrich syndrome	textual	C0043194	Wiskott-Aldrich Syndrome			
522	8302543	11	CONCLUSION: These results indicate that mutations in the rds gene can be expressed as a macular dystrophy, with evidence of primary cone dysfunction and preservation of peripheral rod function..	89	105	17	macular dystrophy	textual	C0730292	Macular dystrophy			
522	8302543	11	CONCLUSION: These results indicate that mutations in the rds gene can be expressed as a macular dystrophy, with evidence of primary cone dysfunction and preservation of peripheral rod function..	133	148	16	cone dysfunction	intuitive: the abstract makes no mention of "cone dysfunction syndrome".  Despite this, in order to yield the correct UMLS code you need to query "cone dysfunction syndrome	C0543968	Cone dysfunction syndrome	Cone dystrophy - C0730290		
522	8302543	11	CONCLUSION: These results indicate that mutations in the rds gene can be expressed as a macular dystrophy, with evidence of primary cone dysfunction and preservation of peripheral rod function..	170	192	23	peripheral rod function	intuitive: the abstract mentions rod degeneration or "dystrophy".  A query of "rod dystrophy" will yield correct UMLS code	C0730366	Rod dystrophy			
523	8302543	3	Mutations at codon 172 of the rds gene have been identified in three families with autosomal dominantly inherited, progressive macular dystrophy.	128	144	17	macular dystrophy	textual	C0730292	Macular dystrophy			
524	8304342	11	Overall, the establishment of a likely "hemochromatosis critical region" centromeric boundary and the identification of a linkage-disequilibrium zone both significantly contribute to a reduction in the amount of DNA required to be searched for novel coding sequences constituting the HFE defect..	48	62	15	hemochromatosis	textual - yields correct UMLS code, however, also yields 1 other for "HFE gene	C0018995	Hemochromatosis			
525	8307570	1	The EWS gene has been identified based on its location at the chromosome 22 breakpoint of the t 11;22 (q24;q12) translocation that characterizes Ewing sarcoma and related neuroectodermal tumors.	146	158	13	Ewing sarcoma	textual	C0553580	Ewings sarcoma			
525	8307570	1	The EWS gene has been identified based on its location at the chromosome 22 breakpoint of the t 11;22 (q24;q12) translocation that characterizes Ewing sarcoma and related neuroectodermal tumors.	172	193	22	neuroectodermal tumors	textual	C0206093	Neuroectodermal Tumors			
526	8314592	1	Positional cloning experiments have resulted recently in the isolation of a candidate gene for Norrie disease (pseudoglioma; NDP), a severe X-linked neurodevelopmental disorder.	96	109	14	Norrie disease	textual	C0266526	NORRIE DISEASE			
526	8314592	1	Positional cloning experiments have resulted recently in the isolation of a candidate gene for Norrie disease (pseudoglioma; NDP), a severe X-linked neurodevelopmental disorder.	112	123	12	pseudoglioma	textual	C0033800	Pseudoglioma			
526	8314592	1	Positional cloning experiments have resulted recently in the isolation of a candidate gene for Norrie disease (pseudoglioma; NDP), a severe X-linked neurodevelopmental disorder.	150	176	27	neurodevelopmental disorder	textual	C1535926	Neurodevelopmental disorder			
527	8317477	1	We evaluated the hypothesis that Huntington disease (HD) is influenced by the normal HD allele by comparing transmission patterns of genetically linked markers at the D4S10 locus in the normal parent against age at onset in the affected offspring.	54	55	2	HD	textual - yields correct UMLS code, however, also yield 4 others	C0020179	Huntington Disease			
527	8317477	1	We evaluated the hypothesis that Huntington disease (HD) is influenced by the normal HD allele by comparing transmission patterns of genetically linked markers at the D4S10 locus in the normal parent against age at onset in the affected offspring.	34	51	18	Huntington disease	textual - yields correct UMLS code, however, also yields code for "HD gene	C0020179	Huntington Disease			
528	8326491	1	In a previous study we found that a Tay-Sachs disease (TSD) causing mutation in the intron 9 donor splice site of the HEXA gene occurs at high frequency in non-Jewish patients and carriers from the British Isles.	56	58	3	TSD	textual	C0039373	Tay-Sachs Disease			
528	8326491	1	In a previous study we found that a Tay-Sachs disease (TSD) causing mutation in the intron 9 donor splice site of the HEXA gene occurs at high frequency in non-Jewish patients and carriers from the British Isles.	37	53	17	Tay-Sachs disease	textual	C0039373	Tay-Sachs Disease			
529	8346255	1	The RB1 gene from 12 human retinoblastoma tumors has been analyzed exon-by-exon with the single-strand conformation polymorphism technique.	28	41	14	retinoblastoma	textual - provides correct UMLS code, however, also provides 1 other code (the code for the gene mentioned, RB1)	C0035335	Retinoblastoma			
530	8364574	2	The PAX6 gene was isolated as a candidate aniridia gene by positional cloning from the smallest region of overlap of aniridia-associated deletions.	43	50	8	aniridia	textual	C0003076	Aniridia			
530	8364574	2	The PAX6 gene was isolated as a candidate aniridia gene by positional cloning from the smallest region of overlap of aniridia-associated deletions.	118	125	8	aniridia	textual	C0003076	Aniridia			
531	8364574	3	Subsequently PAX6 intragenic mutations were demonstrated in Smalleye, a mouse mutant which is an animal model for aniridia, and six human aniridia patients.	98	122	25	animal model for aniridia	intuitive: text states an animal model for a specific disease	C0012644	Animal Disease Models			
531	8364574	3	Subsequently PAX6 intragenic mutations were demonstrated in Smalleye, a mouse mutant which is an animal model for aniridia, and six human aniridia patients.	139	146	8	aniridia	textual	C0003076	Aniridia			
532	8364574	4	In this paper we describe four additional PAX6 point mutations in aniridia patients, both sporadic and familial.	67	74	8	aniridia	textual	C0003076	Aniridia			
533	8364574	6	In addition, the frequency at which we have found PAX6 mutations suggests that lesions in PAX6 will account for most cases of aniridia..	127	134	8	aniridia	textual	C0003076	Aniridia			
534	8370681	3	To determine the molecular basis of autosomal dominant neurohypophyseal diabetes insipidus, the AVP genes of members of a large kindred were analyzed.	56	90	35	neurohypophyseal diabetes insipidus	textual/intuitive: "neurohypophyseal" refers to "central	C0687720	Central Diabetes Insipidus			
535	8375105	1	In this study we describe a three-generation family in which two siblings were affected by Duchenne muscular dystrophy DMD.	120	122	3	DMD	textual - yields correct UMLS code, however, also provides 3 others	C0013264	Muscular Dystrophy, Duchenne			
535	8375105	1	In this study we describe a three-generation family in which two siblings were affected by Duchenne muscular dystrophy DMD.	92	118	27	Duchenne muscular dystrophy	textual	C0013264	Muscular Dystrophy, Duchenne			
536	8401501	1	A susceptibility gene for hereditary breast-ovarian cancer, BRCA1, has been assigned by linkage analysis to chromosome 17q21.	27	58	32	hereditary breast-ovarian cancer	intuitive: list is present, a search for "hereditary breast cancer" will yield correct UMLS code	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
536	8401501	1	A susceptibility gene for hereditary breast-ovarian cancer, BRCA1, has been assigned by linkage analysis to chromosome 17q21.	27	58	32	hereditary breast-ovarian cancer	intuitive: list is present, a search of "breast cancer" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
537	8408659	3	Subjects with homozygous CETP deficiency caused by a gene splicing defect have markedly elevated HDL; however, heterozygotes have only mild increases in HDL.	26	40	15	CETP deficiency	intuitive - was not annotated, abstract defined CETP as Cholesteryl ester transfer protein		CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY	C1846485		
538	8434621	1	In order to demonstrate the effect of prophylactic colchicine treatment on the natural history of familial Mediterranean fever (FMF), a family is presented with 6 out of 9 siblings affected by FMF.	129	131	3	FMF	textual - yields correct UMLS code, however, also yields 1 other	C0031069	Familial Mediterranean Fever			
538	8434621	1	In order to demonstrate the effect of prophylactic colchicine treatment on the natural history of familial Mediterranean fever (FMF), a family is presented with 6 out of 9 siblings affected by FMF.	194	196	3	FMF	textual - yields correct UMLS code, however, also yields 1 other	C0031069	Familial Mediterranean Fever			
538	8434621	1	In order to demonstrate the effect of prophylactic colchicine treatment on the natural history of familial Mediterranean fever (FMF), a family is presented with 6 out of 9 siblings affected by FMF.	99	126	28	familial Mediterranean fever	textual	C0031069	Familial Mediterranean Fever			
539	8440142	2	This novel sequence, cpXr318 (DXS742), detects a new submicroscopic deletion interval at the Norrie disease locus NDP.	94	107	14	Norrie disease	textual - was not annotated		NORRIE DISEASE	C0266526		
540	8441467	1	Adrenoleukodystrophy (ALD) is an X-linked disease affecting 1/20,000 males either as cerebral ALD in childhood or as adrenomyeloneuropathy (AMN) in adults.	23	25	3	ALD	textual - yields only 1 of 2 UMLS codes (C0162309). This search also yields 1 other code.	T0000003 - C0162309,C0282525	Adrenoleukodystrophy, Adrenoleukodystrophy, Neonatal			
540	8441467	1	Adrenoleukodystrophy (ALD) is an X-linked disease affecting 1/20,000 males either as cerebral ALD in childhood or as adrenomyeloneuropathy (AMN) in adults.	95	97	3	ALD	textual - yields only 1 of 2 UMLS codes (C0162309). This search also yields 1 other code.	T0000003 - C0162309,C0282525	Adrenoleukodystrophy, Adrenoleukodystrophy, Neonatal			
540	8441467	1	Adrenoleukodystrophy (ALD) is an X-linked disease affecting 1/20,000 males either as cerebral ALD in childhood or as adrenomyeloneuropathy (AMN) in adults.	141	143	3	AMN	textual - provides correct UMLS code, however, also yields 3 others	C1527231	Adrenomyeloneuropathy			
540	8441467	1	Adrenoleukodystrophy (ALD) is an X-linked disease affecting 1/20,000 males either as cerebral ALD in childhood or as adrenomyeloneuropathy (AMN) in adults.	1	20	20	Adrenoleukodystrophy	textual - yields only 1 of 2 UMLS codes (C0162309). This search also yields 1 other code.	T0000003 - C0162309,C0282525	Adrenoleukodystrophy, Adrenoleukodystrophy, Neonatal			
540	8441467	1	Adrenoleukodystrophy (ALD) is an X-linked disease affecting 1/20,000 males either as cerebral ALD in childhood or as adrenomyeloneuropathy (AMN) in adults.	118	138	21	adrenomyeloneuropathy	textual	C1527231	Adrenomyeloneuropathy			
541	8460149	4	Mice containing this allele display all of the hallmarks of human hypobetalipoproteinemia: they produce a truncated apoB protein, apoB70, and have markedly decreased plasma concentrations of apoB, beta-lipoproteins, and total cholesterol.	67	89	23	hypobetalipoproteinemia	textual	C0020597	Hypobetalipoproteinemias			
542	8466512	2	Two of the patients, 4-5 month old boys, were found to have a novel disease, VLCAD deficiency, as judged from the results of very low palmitoyl-CoA dehydrogenase activity and the lack of immunoreactivity toward antibody raised to purified VLCAD..	78	93	16	VLCAD deficiency	intuitive: was not annotated, abstract defined "VLCAD" as "Very long chain acyl-CoA dehydrogenase		Very long chain acyl-CoA dehydrogenase deficiency	C0342784		
543	8471773	8	Our findings add support to the notion that diverse point mutations may account largely for much of the phenotypic heterogeneity of G6PD deficiency..	133	147	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
544	8477262	1	We have searched for mutations in the choroideremia gene (CHM) in patients from 12 Danish families in which CHM is segregating.	39	51	13	choroideremia	textual	C0008525	Choroideremia			
545	8499920	5	The complete sequence and characterization of the structure of the DM kinase gene, as well as the identification of novel polymorphisms within the gene, represent an important step in a further understanding of the genetics of myotonic dystrophy and the molecular biology of the gene..	228	245	18	myotonic dystrophy	textual - search yields 1 of 2 UMLS codes (C0027126). The second code has to do with muscular dystrophy and must be searched intuitively.	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
546	8500791	1	The differential diagnosis of the genetic bleeding disorders, hemophilia A and von Willebrand disease, is occasionally confounded by the close molecular relationship of coagulation factor VIII and von Willebrand factor vWF.	63	74	12	hemophilia A	textual	C0019069	Hemophilia A			
546	8500791	1	The differential diagnosis of the genetic bleeding disorders, hemophilia A and von Willebrand disease, is occasionally confounded by the close molecular relationship of coagulation factor VIII and von Willebrand factor vWF.	80	101	22	von Willebrand disease	textual - yields 1 of 2 UMLS codes (C0042974)	T0000023 - C1264039,C0042974	von Willebrand disease type 1- von Willebrand Disease			
547	8522307	6	Because clear cell papillary cystadenoma is similar to renal cell carcinoma histologically, and because both occur as components of the von Hippel-Lindau disease complex, the authors analyzed both cases for the presence of mutations in the VHL gene.	9	40	32	clear cell papillary cystadenoma	textual - must remove "papillary" to yield annotated code. Querying this text however will yield a possible alternative UMLS code [ C1880102 ] Clear Cell Papillary Cystadenoma	C1266068	Clear cell cystadenoma	C1880102,C0010636		
547	8522307	6	Because clear cell papillary cystadenoma is similar to renal cell carcinoma histologically, and because both occur as components of the von Hippel-Lindau disease complex, the authors analyzed both cases for the presence of mutations in the VHL gene.	56	75	20	renal cell carcinoma	textual - yields 1 of 2 UMLS codes ( [ C0007134 ] Renal Cell Carcinoma).	T0000007 - C0007134, C0279702	Renal Cell Carcinoma - Clear Cell Renal Cell Carcinoma			
547	8522307	6	Because clear cell papillary cystadenoma is similar to renal cell carcinoma histologically, and because both occur as components of the von Hippel-Lindau disease complex, the authors analyzed both cases for the presence of mutations in the VHL gene.	137	161	25	von Hippel-Lindau disease	textual - yields 1 of 2 UMLS codes (C0019562)	T0000009 - C0241952,C0019562	INTRACRANIAL NEOPLASM, VON HIPPEL-LINDAU DISEASE - Von Hippel-Lindau Syndrome			
548	8528198	1	Mutation in the gene encoding the recently isolated WASP protein has now been identified as the genetic defect responsible for the X-linked Wiskott-Aldrich syndrome (WAS), a primary immunodeficiency disease associated with extensive phenotypic variability.	167	169	3	WAS	textual - yields correct UMLS code, however, also yields 20 others	C0043194	Wiskott-Aldrich Syndrome			
548	8528198	1	Mutation in the gene encoding the recently isolated WASP protein has now been identified as the genetic defect responsible for the X-linked Wiskott-Aldrich syndrome (WAS), a primary immunodeficiency disease associated with extensive phenotypic variability.	141	164	24	Wiskott-Aldrich syndrome	textual	C0043194	Wiskott-Aldrich Syndrome			
548	8528198	1	Mutation in the gene encoding the recently isolated WASP protein has now been identified as the genetic defect responsible for the X-linked Wiskott-Aldrich syndrome (WAS), a primary immunodeficiency disease associated with extensive phenotypic variability.	175	206	32	primary immunodeficiency disease	textual - howver "immunodeficiency" must be changed to "immune deficiency" in order to yield correct UMLS code	C0398686	Primary immune deficiency disorder			
549	8528199	1	The WASP gene has been recently cloned from Xp11.23 and shown to be mutated in three patients with the Wiskott-Aldrich syndrome WAS.	129	131	3	WAS	textual - yields correct UMLS code, however, also yields 20 others	C0043194	Wiskott-Aldrich Syndrome			
549	8528199	1	The WASP gene has been recently cloned from Xp11.23 and shown to be mutated in three patients with the Wiskott-Aldrich syndrome WAS.	104	127	24	Wiskott-Aldrich syndrome	textual	C0043194	Wiskott-Aldrich Syndrome			
550	8528199	5	Four amino acid substitutions, Leu27Phe, Thr48Ile, Val75Met and Arg477Lys, were found in patients with congenital thrombocytopenia and no clinically evident immune defect indicating that the WASP gene is the site for mutations in X-linked thrombocytopenia as well as in WAS.	104	130	27	congenital thrombocytopenia	textual	C0272278	Congenital thrombocytopenia			
551	8528200	1	The size of the (CAG)n repeat array in the 3' end of the MJD1 gene and the haplotype at a series of microsatellite markers surrounding the MJD1 gene were examined in a large cohort of Japanese and Caucasian subjects affected with Machado-Joseph disease MJD.	254	256	3	MJD	textual	C0024408	Machado-Joseph Disease			
551	8528200	1	The size of the (CAG)n repeat array in the 3' end of the MJD1 gene and the haplotype at a series of microsatellite markers surrounding the MJD1 gene were examined in a large cohort of Japanese and Caucasian subjects affected with Machado-Joseph disease MJD.	231	252	22	Machado-Joseph disease	textual	C0024408	Machado-Joseph Disease			
552	8528200	6	Fourth, the disease phenotype is significantly more severe and had an early age of onset (16 years) in a subject homozygous for the expanded allele, which contrasts with Huntington disease and suggests that the expanded allele in the MJD1 gene could exert its effect either by a dominant negative effect (putatively excluded in HD) or by a gain of function effect as proposed for HD.	329	330	2	HD	textual - yields correct UMLS code, however, also yield 4 others	C0020179	Huntington Disease			
552	8528200	6	Fourth, the disease phenotype is significantly more severe and had an early age of onset (16 years) in a subject homozygous for the expanded allele, which contrasts with Huntington disease and suggests that the expanded allele in the MJD1 gene could exert its effect either by a dominant negative effect (putatively excluded in HD) or by a gain of function effect as proposed for HD.	381	382	2	HD	textual - yields correct UMLS code, however, also yield 4 others	C0020179	Huntington Disease			
552	8528200	6	Fourth, the disease phenotype is significantly more severe and had an early age of onset (16 years) in a subject homozygous for the expanded allele, which contrasts with Huntington disease and suggests that the expanded allele in the MJD1 gene could exert its effect either by a dominant negative effect (putatively excluded in HD) or by a gain of function effect as proposed for HD.	171	188	18	Huntington disease	textual - yields correct UMLS code, however, also yields code for "HD gene	C0020179	Huntington Disease			
553	8530105	5	A deletion of 8q24.11-q24.3 in a patient with multiple exostoses was found to overlap the distal end of the LGS deletion region, indicating that the EXT1 gene is distal to the TRPS1 gene and supporting the hypothesis that Langer-Giedion syndrome is due to loss of functional copies of both the TRPS1 and the EXT1 genes..	47	64	18	multiple exostoses	textual	C0015306	Hereditary Multiple Exostoses			
553	8530105	5	A deletion of 8q24.11-q24.3 in a patient with multiple exostoses was found to overlap the distal end of the LGS deletion region, indicating that the EXT1 gene is distal to the TRPS1 gene and supporting the hypothesis that Langer-Giedion syndrome is due to loss of functional copies of both the TRPS1 and the EXT1 genes..	223	245	23	Langer-Giedion syndrome	textual	C0023003	Langer-Giedion Syndrome			
554	8531967	2	Inherited mutations in the BRCA1 gene are associated with a high risk of breast and ovarian cancer in some families.	74	98	25	breast and ovarian cancer	intuitive: list is present, a search of "breast cancer" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
554	8531967	2	Inherited mutations in the BRCA1 gene are associated with a high risk of breast and ovarian cancer in some families.	85	98	14	ovarian cancer	textual -   Search yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name	T0000018 - C0029925, C1140680 		
555	8533757	1	Thirty-seven families with four or more cases of breast cancer or breast and ovarian cancer were analyzed for mutations in BRCA1.	50	62	13	breast cancer	textual - yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast			
555	8533757	1	Thirty-seven families with four or more cases of breast cancer or breast and ovarian cancer were analyzed for mutations in BRCA1.	67	91	25	breast and ovarian cancer	intuitive: list is present, a search of "breast cancer" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
555	8533757	1	Thirty-seven families with four or more cases of breast cancer or breast and ovarian cancer were analyzed for mutations in BRCA1.	78	91	14	ovarian cancer	textual -   Search yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name	T0000018 - C0029925, C1140680 		
556	8533757	7	Two novel nonsense mutations led to the loss of mutant BRCA1 transcript in families with 10 and 6 cases of early-onset breast cancer and ovarian cancer.	108	151	44	early-onset breast cancer and ovarian cancer	intuitive: list is present, text states the early onset of a specific disease	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome,C0814120 -early disease onset		
556	8533757	7	Two novel nonsense mutations led to the loss of mutant BRCA1 transcript in families with 10 and 6 cases of early-onset breast cancer and ovarian cancer.	108	151	44	early-onset breast cancer and ovarian cancer	textual - yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000018 - C0029925, C1140680 	Ovarian Carcinoma - Group name	C1833686 -OVARIAN CANCER, FAMILIAL, C0814120 -early disease onset		
557	8533762	2	The frequency and genetic basis of G6PD deficiency have been studied in Africa, around the Mediterranean, and in the Far East, but little such information is available about the situation in India.	36	50	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
558	8533762	3	To determine the extent of heterogeneity of G6PD, we have studied several different Indian populations by screening for G6PD deficiency, followed by molecular analysis of deficient alleles.	121	135	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
559	8533762	4	The frequency of G6PD deficiency varies between 3% and 15% in different tribal and urban groups.	18	32	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
560	8533762	5	Remarkably, a previously unreported deficient variant, G6PD Orissa (44 Ala--Gly), is responsible for most of the G6PD deficiency in tribal Indian populations but is not found in urban populations, where most of the G6PD deficiency is due to the G6PD Mediterranean (188 Ser--Phe) variant.	114	128	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
560	8533762	5	Remarkably, a previously unreported deficient variant, G6PD Orissa (44 Ala--Gly), is responsible for most of the G6PD deficiency in tribal Indian populations but is not found in urban populations, where most of the G6PD deficiency is due to the G6PD Mediterranean (188 Ser--Phe) variant.	216	230	15	G6PD deficiency	textual/intuitive - yields neither of the 2 UMLS codes annotated, only yields code for Glycogen Storage Disease Type I. I checked in the abstract and they abbreviate "Glucose-6-phosphate dehydrogenase deficiency" as "G6PD deficiency	T0000015 - C0237987,C0017758	Glucose-6-phosphate dehydrogenase deficiency anemia, Glucosephosphate Dehydrogenase Deficiency			
561	8533768	1	A susceptibility gene on chromosome 18 and a parent-of-origin effect have been suggested for bipolar affective disorder BPAD.	121	124	4	BPAD	textual -  yields Wrong UMLS codes	C0005586	Bipolar Disorder			
561	8533768	1	A susceptibility gene on chromosome 18 and a parent-of-origin effect have been suggested for bipolar affective disorder BPAD.	94	119	26	bipolar affective disorder	textual -  yields correct UMLS code, however, also yield 5 others related to "Major effective Disorder".  Querying "bipolar disorder" will yield only thre correct UMLS code	C0005586	Bipolar Disorder			
562	8551426	8	CONCLUSIONS: The S135L mutation in the GALT gene is a prevalent cause of galactosemia among black patients.	74	85	12	galactosemia	textual - only yields UMLS code C0016952 for Galactosemias, must search for "Classical galactosemia" in order to get the other UMLS code	T0000028 - C0268151,C0016952	Classical galactosemia, Galactosemias			
563	8554067	1	We have analyzed 20 breast-ovarian cancer families, the majority of which show positive evidence of linkage to chromosome 17q12 for germ-line mutations in the BRCA1 gene.	21	41	21	breast-ovarian cancer	intuitive: list is present, a search of "breast cancer" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
563	8554067	1	We have analyzed 20 breast-ovarian cancer families, the majority of which show positive evidence of linkage to chromosome 17q12 for germ-line mutations in the BRCA1 gene.	28	41	14	ovarian cancer	textual -   Search yields both UMLS codes.	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
564	8554067	2	BRCA1 mutations cosegregating with breast and ovarian cancer susceptibility were identified in 16 families, including 1 family with a case of male breast cancer.	36	60	25	breast and ovarian cancer	intuitive: list is present, a search of "breast cancer" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
564	8554067	2	BRCA1 mutations cosegregating with breast and ovarian cancer susceptibility were identified in 16 families, including 1 family with a case of male breast cancer.	47	60	14	ovarian cancer	textual -   Search yields both UMLS codes.	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
564	8554067	2	BRCA1 mutations cosegregating with breast and ovarian cancer susceptibility were identified in 16 families, including 1 family with a case of male breast cancer.	143	160	18	male breast cancer	textual - yields 1 of 4 UMLS codes C0238033 Carcinoma of Male Breast	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast			
565	8563759	1	The breast and ovarian cancer susceptibility gene, BRCA1, has been cloned and shown to encode a zinc-finger protein of unknown function.	5	29	25	breast and ovarian cancer	intuitive: list is present, a search of "breast cancer" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast			
565	8563759	1	The breast and ovarian cancer susceptibility gene, BRCA1, has been cloned and shown to encode a zinc-finger protein of unknown function.	16	29	14	ovarian cancer	textual -   Search yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
566	8563759	2	Mutations in BRCA1 account for at least 80% of families with both breast and ovarian cancer, as well as some non-familial sporadic ovarian cancers.	67	91	25	breast and ovarian cancer	intuitive: list is present, a search of "breast cancer" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
566	8563759	2	Mutations in BRCA1 account for at least 80% of families with both breast and ovarian cancer, as well as some non-familial sporadic ovarian cancers.	78	91	14	ovarian cancer	textual -   Search yields both UMLS codes.	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
566	8563759	2	Mutations in BRCA1 account for at least 80% of families with both breast and ovarian cancer, as well as some non-familial sporadic ovarian cancers.	132	146	15	sporadic ovarian cancers	textual -   Search yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
567	8566952	5	We screened patients with adrenoleukodystrophy/adrenomyeloneuropathy (ALD/AMN) from 20 kindreds for mutations in the ALD gene.	71	73	3	ALD	textual - yields only 1 of 2 UMLS codes (C0162309). This search also yields 1 other code.	T0000003 - C0162309,C0282525	Adrenoleukodystrophy, Adrenoleukodystrophy, Neonatal			
567	8566952	5	We screened patients with adrenoleukodystrophy/adrenomyeloneuropathy (ALD/AMN) from 20 kindreds for mutations in the ALD gene.	75	77	3	AMN	textual - provides correct UMLS code, however, also yields 3 others	C1527231	Adrenomyeloneuropathy			
567	8566952	5	We screened patients with adrenoleukodystrophy/adrenomyeloneuropathy (ALD/AMN) from 20 kindreds for mutations in the ALD gene.	27	46	20	adrenoleukodystrophy	textual - yields only 1 of 2 UMLS codes (C0162309). This search also yields 1 other code.	T0000003 - C0162309,C0282525	Adrenoleukodystrophy, Adrenoleukodystrophy, Neonatal			
567	8566952	5	We screened patients with adrenoleukodystrophy/adrenomyeloneuropathy (ALD/AMN) from 20 kindreds for mutations in the ALD gene.	48	68	21	adrenomyeloneuropathy	textual	C1527231	Adrenomyeloneuropathy			
568	8566965	1	The recently cloned human breast and ovarian cancer susceptibility gene, BRCA1, is located on human chromosome 17q21.	27	51	25	breast and ovarian cancer	intuitive: list is present, a search of "breast cancer" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
568	8566965	1	The recently cloned human breast and ovarian cancer susceptibility gene, BRCA1, is located on human chromosome 17q21.	38	51	14	ovarian cancer	textual -   Search yields both UMLS codes.	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
569	8571951	1	Atelosteogenesis type II (AO II) is a neonatally lethal chondrodysplasia whose clinical and histological characteristics resemble those of another chondrodysplasia, the much less severe diastrophic dysplasia DTD.	27	31	5	AO II	textual - yields no UMLS codes	T0000010 - C0265283,C0432203	Atelosteogenesis -  Atelosteogenesis type 2			
569	8571951	1	Atelosteogenesis type II (AO II) is a neonatally lethal chondrodysplasia whose clinical and histological characteristics resemble those of another chondrodysplasia, the much less severe diastrophic dysplasia DTD.	209	211	3	DTD	textual - yields correct UMLS code, however, also yield 3 others	C0220726	Diastrophic dysplasia			
569	8571951	1	Atelosteogenesis type II (AO II) is a neonatally lethal chondrodysplasia whose clinical and histological characteristics resemble those of another chondrodysplasia, the much less severe diastrophic dysplasia DTD.	1	24	24	Atelosteogenesis type II	textual - yields neither of the UMLS codes that was annotated.  It does however yield a code for [ C1850554 ] ATELOSTEOGENESIS, TYPE II, a synonym of [C0432203] Atelosteogenesis type 2.  The difference between them when you query is whether you use "II" or "2".	T0000010 - C0265283,C0432203	Atelosteogenesis -  Atelosteogenesis type 2	C1850554		
569	8571951	1	Atelosteogenesis type II (AO II) is a neonatally lethal chondrodysplasia whose clinical and histological characteristics resemble those of another chondrodysplasia, the much less severe diastrophic dysplasia DTD.	57	72	16	chondrodysplasia	textual	C0343284	Chondrodysplasia, unspecified			
569	8571951	1	Atelosteogenesis type II (AO II) is a neonatally lethal chondrodysplasia whose clinical and histological characteristics resemble those of another chondrodysplasia, the much less severe diastrophic dysplasia DTD.	148	163	16	chondrodysplasia	textual	C0343284	Chondrodysplasia, unspecified			
569	8571951	1	Atelosteogenesis type II (AO II) is a neonatally lethal chondrodysplasia whose clinical and histological characteristics resemble those of another chondrodysplasia, the much less severe diastrophic dysplasia DTD.	187	207	21	diastrophic dysplasia	textual	C0220726	Diastrophic dysplasia			
570	8571951	3	DTD is caused by mutations in the recently identified diastrophic dysplasia sulfate-transporter gene DTDST.	1	3	3	DTD	textual - yields correct UMLS code, however, also yield 3 others	C0220726	Diastrophic dysplasia			
570	8571951	3	DTD is caused by mutations in the recently identified diastrophic dysplasia sulfate-transporter gene DTDST.	55	75	21	diastrophic dysplasia	textual	C0220726	Diastrophic dysplasia			
571	8571953	1	Several BRCA1 mutations have now been found to occur in geographically diverse breast and ovarian cancer families.	80	104	25	breast and ovarian cancer	intuitive: list is present, a search of "breast cancer" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
571	8571953	1	Several BRCA1 mutations have now been found to occur in geographically diverse breast and ovarian cancer families.	91	104	14	ovarian cancer	textual -   Search yields both UMLS codes.	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
572	8571953	2	To investigate mutation origin and mutation-specific phenotypes due to BRCA1, we constructed a haplotype of nine polymorphic markers within or immediately flanking the BRCA1 locus in a set of 61 breast/ovarian cancer families selected for having one of six recurrent BRCA1 mutations.	196	216	21	breast/ovarian cancer	intuitive: list is present, a search of "breast cancer" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
572	8571953	2	To investigate mutation origin and mutation-specific phenotypes due to BRCA1, we constructed a haplotype of nine polymorphic markers within or immediately flanking the BRCA1 locus in a set of 61 breast/ovarian cancer families selected for having one of six recurrent BRCA1 mutations.	203	216	14	ovarian cancer	textual -   Search yields both UMLS codes.	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
573	8571953	4	A comparison of the six mutations in the relative proportions of cases of breast and ovarian cancer was suggestive of an effect (P = .069), with 57% of women presumed affected because of the 1294 del 40 BRCA1 mutation having ovarian cancer, compared with 14% of affected women with the splice-site mutation in intron 5 of BRCA1.	75	99	25	breast and ovarian cancer	intuitive: list is present, a search of "breast cancer" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast			
573	8571953	4	A comparison of the six mutations in the relative proportions of cases of breast and ovarian cancer was suggestive of an effect (P = .069), with 57% of women presumed affected because of the 1294 del 40 BRCA1 mutation having ovarian cancer, compared with 14% of affected women with the splice-site mutation in intron 5 of BRCA1.	86	99	14	ovarian cancer	textual -   Search yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
573	8571953	4	A comparison of the six mutations in the relative proportions of cases of breast and ovarian cancer was suggestive of an effect (P = .069), with 57% of women presumed affected because of the 1294 del 40 BRCA1 mutation having ovarian cancer, compared with 14% of affected women with the splice-site mutation in intron 5 of BRCA1.	226	239	14	ovarian cancer	textual -   Search yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
574	8575748	1	The BRCA1 gene is in large part responsible for hereditary human breast and ovarian cancer.	49	90	42	hereditary human breast and ovarian cancer	intuitive: list is present search of "familial breast cancers" yields correct UMLS code	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
574	8575748	1	The BRCA1 gene is in large part responsible for hereditary human breast and ovarian cancer.	49	90	42	hereditary human breast and ovarian cancer	intuitive: list is present, a search for "breast cancers" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
575	8589715	1	Mutations in the STA gene at the Xq28 locus have been found in patients with X-linked Emery-Dreifuss muscular dystrophy EDMD.	121	124	4	EDMD	textual	C0751337	X-Linked Emery-Dreifuss Muscular Dystrophy			
575	8589715	1	Mutations in the STA gene at the Xq28 locus have been found in patients with X-linked Emery-Dreifuss muscular dystrophy EDMD.	78	119	42	X-linked Emery-Dreifuss muscular dystrophy	textual	C0751337	X-Linked Emery-Dreifuss Muscular Dystrophy			
576	8589721	1	Inherited mutations in BRCA1 predispose to breast and ovarian cancer, but the role of BRCA1 in sporadic breast and ovarian cancer has previously been elusive.	44	68	25	breast and ovarian cancer	intuitive: list is present, a search for "breast cancers" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
576	8589721	1	Inherited mutations in BRCA1 predispose to breast and ovarian cancer, but the role of BRCA1 in sporadic breast and ovarian cancer has previously been elusive.	55	68	14	ovarian cancer	textual - "ovarian cancer" yields both UMLS codes.	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
576	8589721	1	Inherited mutations in BRCA1 predispose to breast and ovarian cancer, but the role of BRCA1 in sporadic breast and ovarian cancer has previously been elusive.	96	129	34	sporadic breast and ovarian cancer	intuitive: list is present.  A query of "sporadic breast cancer" will yield correct UMLS code	C1336076	Sporadic Breast Carcinoma	T0000029 -C0238033, C0007104,C0006142,C0678222		
576	8589721	1	Inherited mutations in BRCA1 predispose to breast and ovarian cancer, but the role of BRCA1 in sporadic breast and ovarian cancer has previously been elusive.	96	129	34	sporadic breast and ovarian cancer	textual - "ovarian cancer" yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
577	8589721	2	Here, we show that retroviral transfer of the wild-type BRCA1 gene inhibits growth in vitro of all breast and ovarian cancer cell lines tested, but not colon or lung cancer cells or fibroblasts.	100	124	25	breast and ovarian cancer	intuitive: list is present, a search for "breast cancers" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast			
577	8589721	2	Here, we show that retroviral transfer of the wild-type BRCA1 gene inhibits growth in vitro of all breast and ovarian cancer cell lines tested, but not colon or lung cancer cells or fibroblasts.	111	124	14	ovarian cancer	textual - "ovarian cancer" yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
577	8589721	2	Here, we show that retroviral transfer of the wild-type BRCA1 gene inhibits growth in vitro of all breast and ovarian cancer cell lines tested, but not colon or lung cancer cells or fibroblasts.	153	172	20	colon or lung cancer	intuitive: list is present. A query of "colon cancer" yields correct UMLS code along with Colon Carcinoma [C0699790], a possible alternative	C0007102	Malignant tumor of colon	C0699790		
577	8589721	2	Here, we show that retroviral transfer of the wild-type BRCA1 gene inhibits growth in vitro of all breast and ovarian cancer cell lines tested, but not colon or lung cancer cells or fibroblasts.	162	172	11	lung cancer	textual - yields correct UMLS code, however, also yields code for Carcinoma of lung [C0684249]  a possible alternative	C0242379	Malignant neoplasm of lung	C0684249		
578	8589721	3	Mutant BRCA1 has no effect on growth of breast cancer cells; ovarian cancer cell growth is not affected by BRCA1 mutations in the 5' portion of the gene, but is inhibited by 3' BRCA1 mutations.	41	53	13	breast cancer	textual - yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast			
578	8589721	3	Mutant BRCA1 has no effect on growth of breast cancer cells; ovarian cancer cell growth is not affected by BRCA1 mutations in the 5' portion of the gene, but is inhibited by 3' BRCA1 mutations.	62	75	14	ovarian cancer	textual - "ovarian cancer" yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
578	8589721	3	Mutant BRCA1 has no effect on growth of breast cancer cells; ovarian cancer cell growth is not affected by BRCA1 mutations in the 5' portion of the gene, but is inhibited by 3' BRCA1 mutations.	70	87	18	cancer cell growth	textual	C1516170	Cancer Cell Growth			
579	8589722	1	Germline mutations in BRCA1 are responsible for most cases of inherited breast and ovarian cancer.	63	97	35	inherited breast and ovarian cancer	intuitive: list is present. Also "inherited must be changed to "hereditary" or "familial" to yield the correct UMLS code.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
579	8589722	1	Germline mutations in BRCA1 are responsible for most cases of inherited breast and ovarian cancer.	63	97	35	inherited breast and ovarian cancer	intuitive	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
580	8589723	1	Women who carry a mutation in the BRCA1 gene (on chromosome 17q21), have an 80% risk of breast cancer and a 40% risk of ovarian cancer by the age of 70 ref. 1.	89	101	13	breast cancer	textual - yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast			
580	8589723	1	Women who carry a mutation in the BRCA1 gene (on chromosome 17q21), have an 80% risk of breast cancer and a 40% risk of ovarian cancer by the age of 70 ref. 1.	121	134	14	ovarian cancer	textual - "ovarian cancer" yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
581	8589723	5	To investigate whether the presence of rare HRAS1 alleles increases susceptibility to hereditary breast and ovarian cancer, we have typed a panel of 307 female BRCA1 carriers at this locus using a PCR-based technique.	87	122	36	hereditary breast and ovarian cancer	intuitive: list is present. A query of "hereditary breast cancer" will yield correct UMLS code	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
581	8589723	5	To investigate whether the presence of rare HRAS1 alleles increases susceptibility to hereditary breast and ovarian cancer, we have typed a panel of 307 female BRCA1 carriers at this locus using a PCR-based technique.	87	122	36	hereditary breast and ovarian cancer	intuitive	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
582	8589723	6	The risk for ovarian cancer was 2.11 times greater for BRCA1 carriers harbouring one or two rare HRAS1 alleles, compared to carriers with only common alleles P = 0.015.	14	27	14	ovarian cancer	textual - "ovarian cancer" yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
583	8595416	1	Myotonic dystrophy (DM) is associated with a (CTG)n trinucleotide repeat expansion in the 3'-untranslated region of a protein kinase-encoding gene, DMPK, which maps to chromosome 19q13.3.	21	22	2	DM	textual - search yields 1 of 2 UMLS codes (C0027126), however, also provides 8 other UMLS codes	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
583	8595416	1	Myotonic dystrophy (DM) is associated with a (CTG)n trinucleotide repeat expansion in the 3'-untranslated region of a protein kinase-encoding gene, DMPK, which maps to chromosome 19q13.3.	1	18	18	Myotonic dystrophy	textual - search yields 1 of 2 UMLS codes (C0027126). The second code has to do with muscular dystrophy and must be searched intuitively.	T0000024 - C0027126 - C0242007	Myotonic Dystrophy, muscular; dystrophy, myotonic			
584	8605116	1	We have analyzed the 27 exons and the promoter region of the RB1 gene in familial or sporadic bilateral retinoblastoma by using single-strand conformation polymorphism analysis.	74	118	45	familial or sporadic bilateral retinoblastoma	intuitive: list is present.  Must search for "familial retinoblastoma" to yield correct UMLS code	C0751483	Familial Retinoblastoma	C0854914		
584	8605116	1	We have analyzed the 27 exons and the promoter region of the RB1 gene in familial or sporadic bilateral retinoblastoma by using single-strand conformation polymorphism analysis.	86	118	33	sporadic bilateral retinoblastoma	textual - must remove "bilateral" to yield correct UMLS code	C0751484	Sporadic Retinoblastoma	C0854914		
585	8621452	1	Type II complement protein C2 deficiency is characterized by a selective block in C2 secretion.	28	40	13	C2 deficiency	intuitive: a query of the text yields the UMLS code for "C2 Gene".  It isnt defined, but I believe "C2" refers to "Complement 2".  A query of "Complement 2 deficiency" will yield correct UMLS code	C0398756	Complement 2 deficiency			
586	8621452	2	The Type II C2 null allele (C2Q0) is linked to two major histocompatibility haplotypes (MHC) that differ from the MHC of the more common Type I C2 deficiency.	145	157	13	C2 deficiency	intuitive: was not annotated.  C2 deficiency I believe is referring to "Complement 2 deficiency", although the abstract does not define it as exactly that.		Complement 2 deficiency	C0398756		
587	8621452	4	Subsequent molecular biology, biosynthetic, and immunofluorescence studies demonstrated that C2 secretion is impaired in Type II C2 deficiency because of different missense mutations at highly conserved residues in each of the C2Q0 alleles.	130	142	13	C2 deficiency	intuitive: was not annotated.  C2 deficiency I believe is referring to "Complement 2 deficiency", although the abstract does not define it as exactly that.		Complement 2 deficiency	C0398756		
588	8622978	7	We conclude that CyS2010 is essential for normal dimerization of vWF subunits through disulfide bonding of carboxyl-terminal domains and that a heterozygous mutation in the corresponding codon is responsible for defective multimer formation in type III von Willebrand disease.	254	267	14	type III von Willebrand disease	textual - does not yield annotated code	C1264041	von Willebrand disease type 3			
589	8625410	2	We have identified WASP, the protein that is defective in Wiskott-Aldrich syndrome (WAS), as a novel effector for CDC42Hs, but not for the other Rho family members, Rac and Rho.	85	87	3	WAS	texutal - yields correct UMLS code, however, also yields 20 others	C0043194	Wiskott-Aldrich Syndrome			
589	8625410	2	We have identified WASP, the protein that is defective in Wiskott-Aldrich syndrome (WAS), as a novel effector for CDC42Hs, but not for the other Rho family members, Rac and Rho.	59	82	24	Wiskott-Aldrich syndrome	textual	C0043194	Wiskott-Aldrich Syndrome			
590	8636252	10	By electrophysiological tests and magnetic resonance imaging it was determined that two patients had cerebral ALD, one had adrenomyeloneuropathy with cerebral involvement, and two had preclinical AMN.	111	113	3	ALD	textual - yields only 1 of 2 UMLS codes (C0162309). This search also yields 1 other code.	T0000003 - C0162309,C0282525	Adrenoleukodystrophy, Adrenoleukodystrophy, Neonatal			
590	8636252	10	By electrophysiological tests and magnetic resonance imaging it was determined that two patients had cerebral ALD, one had adrenomyeloneuropathy with cerebral involvement, and two had preclinical AMN.	197	199	3	AMN	textual - provides correct UMLS code, however, also yields 3 others	C1527231	Adrenomyeloneuropathy			
590	8636252	10	By electrophysiological tests and magnetic resonance imaging it was determined that two patients had cerebral ALD, one had adrenomyeloneuropathy with cerebral involvement, and two had preclinical AMN.	124	144	21	adrenomyeloneuropathy	textual	C1527231	Adrenomyeloneuropathy			
591	8637912	9	These data functionally define a novel genetic locus, designated PAC1, for prostate adenocarcinoma 1, involved in tumor suppression of human prostate carcinoma and furthermore strongly suggest that the cell death pathway can be functionally restored in prostatic adenocarcinoma..	142	159	18	prostate carcinoma	textual	C0600139	Prostate carcinoma			
591	8637912	9	These data functionally define a novel genetic locus, designated PAC1, for prostate adenocarcinoma 1, involved in tumor suppression of human prostate carcinoma and furthermore strongly suggest that the cell death pathway can be functionally restored in prostatic adenocarcinoma..	254	277	24	prostatic adenocarcinoma	textual	C0007112	Adenocarcinoma of prostate			
592	8640236	11	However, a probable germline mutation in a pancreatic tumour cell line suggests a role for BRCA2 in susceptibility to pancreatic cancer..	44	60	17	pancreatic tumour	textual	C0030297	pancreatic neoplasm			
592	8640236	11	However, a probable germline mutation in a pancreatic tumour cell line suggests a role for BRCA2 in susceptibility to pancreatic cancer..	119	135	17	pancreatic cancer	textual - yield both UMLS codes	T0000008 - C0235974, C0346647	Pancreatic carcinoma - Malignant neoplasm of pancreas			
593	8640236	3	An exception is BRCA1, which contributes to a significant fraction of familial breast and ovarian cancer, but undergoes mutation at very low rates in sporadic breast and ovarian cancers.	71	104	34	familial breast and ovarian cancer	intuitive: list is present. A query of "familial breast cancer" will yield correct UMLS code	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
593	8640236	3	An exception is BRCA1, which contributes to a significant fraction of familial breast and ovarian cancer, but undergoes mutation at very low rates in sporadic breast and ovarian cancers.	71	104	34	familial breast and ovarian cancer	intuitive: list is present	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
593	8640236	3	An exception is BRCA1, which contributes to a significant fraction of familial breast and ovarian cancer, but undergoes mutation at very low rates in sporadic breast and ovarian cancers.	151	185	35	sporadic breast and ovarian cancers	intuitive: list is present.  A search of "sporadic breast cancer" will yield correct UMLS code	C1336076	Sporadic Breast Carcinoma			
593	8640236	3	An exception is BRCA1, which contributes to a significant fraction of familial breast and ovarian cancer, but undergoes mutation at very low rates in sporadic breast and ovarian cancers.	151	185	35	sporadic breast and ovarian cancers	intuitive - list was present	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
594	8644702	1	Nine different germ-line mutations in the BRCA1 breast and ovarian cancer susceptibility gene were identified in 15 of 47 kindreds from southern Sweden, by use of SSCP and heteroduplex analysis of all exons and flanking intron region and by a protein-truncation test for exon 11, followed by direct sequencing.	49	73	25	breast and ovarian cancer	intuitive: list is present, a search for "breast cancer" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
594	8644702	1	Nine different germ-line mutations in the BRCA1 breast and ovarian cancer susceptibility gene were identified in 15 of 47 kindreds from southern Sweden, by use of SSCP and heteroduplex analysis of all exons and flanking intron region and by a protein-truncation test for exon 11, followed by direct sequencing.	60	73	14	ovarian cancer	textual - "ovarian cancer" yields both UMLS codes.	T0000018 - C0029925, C1140680 	Ovarian Carcinoma - Group name	C1833686		
595	8644702	10	The present study confirms the involvement of BRCA1 in disease predisposition for a subset of hereditary breast cancer families often characterized by ovarian cancers..	95	118	24	hereditary breast cancer	textual	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
595	8644702	10	The present study confirms the involvement of BRCA1 in disease predisposition for a subset of hereditary breast cancer families often characterized by ovarian cancers..	152	166	15	ovarian cancers	textual - "ovarian cancer" yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
596	8644702	6	Eleven of the 15 kindreds manifesting BRCA1 mutations were breast-ovarian cancer families, several of them with a predominant ovarian cancer phenotype.	60	80	21	breast-ovarian cancer	intuitive: list is present, a search for "breast cancer" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
596	8644702	6	Eleven of the 15 kindreds manifesting BRCA1 mutations were breast-ovarian cancer families, several of them with a predominant ovarian cancer phenotype.	67	80	14	ovarian cancer	textual - "ovarian cancer" yields both UMLS codes.	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
596	8644702	6	Eleven of the 15 kindreds manifesting BRCA1 mutations were breast-ovarian cancer families, several of them with a predominant ovarian cancer phenotype.	127	140	14	ovarian cancer	textual - "ovarian cancer" yields both UMLS codes.	T0000018 - C0029925, C1140680	Ovarian Carcinoma - Group name			
597	8644702	7	The set of 32 families in which no BRCA1 alterations were detected included 1 breast-ovarian cancer kindred manifesting clear linkage to the BRCA1 region and loss of the wild-type chromosome in associated tumors.	79	99	21	breast-ovarian cancer	intuitive: list is present, a search for "breast cancer" yields 2 of the 4 UMLS codes (C0678222 and C0006142).  C0007104 (Female breast caricinoma) and C0238033 (Carcinoma of Male Breast) must be found intuitively based on what sex you are looking for.	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
597	8644702	7	The set of 32 families in which no BRCA1 alterations were detected included 1 breast-ovarian cancer kindred manifesting clear linkage to the BRCA1 region and loss of the wild-type chromosome in associated tumors.	86	99	14	ovarian cancer	textual - "ovarian cancer" yields both UMLS codes.	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
598	8644702	9	In all, 12 of 16 kindreds manifesting BRCA1 mutation or linkage contained ovarian cancer, as compared with only 6 of the remaining 31 families P<.001.	75	88	14	ovarian cancer	textual - "ovarian cancer" yields both UMLS codes.	[C1140680]  [C0029925]	Malignant neoplasm of ovary, Ovarian Carcinoma			
599	8644703	1	Germ-line mutations of the BRCA1 gene are responsible for a substantial proportion of families with multiple cases of early-onset breast and/or ovarian cancer.	119	158	40	early-onset breast and/or ovarian cancer	intuitive:	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome, C0814120  early disease onset		
599	8644703	1	Germ-line mutations of the BRCA1 gene are responsible for a substantial proportion of families with multiple cases of early-onset breast and/or ovarian cancer.	119	158	40	early-onset breast and/or ovarian cancer	intuitive:	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 , C0814120 ] early disease onset		
600	8644703	3	We have developed a multiplex heteroduplex analysis that is designed to analyze one-quarter of the coding sequence in a single-step screening procedure and that will detect approximately 50% of all BRCA1 mutations so far reported in breast/ovarian cancer families.	234	254	21	breast/ovarian cancer	intuitive: text is referring to the hereditary nature of breast cancer	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
600	8644703	3	We have developed a multiplex heteroduplex analysis that is designed to analyze one-quarter of the coding sequence in a single-step screening procedure and that will detect approximately 50% of all BRCA1 mutations so far reported in breast/ovarian cancer families.	241	254	14	ovarian cancer	intuitive: 	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
601	8644703	4	We have used this technique to analyze BRCA1 in 162 families with a history of breast and/or ovarian cancer and identified 12 distinct mutations in 35 families..	80	107	28	breast and/or ovarian cancer	intuitive: list is present. A search of "breast cancer" yields 2 UMLS codes	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
601	8644703	4	We have used this technique to analyze BRCA1 in 162 families with a history of breast and/or ovarian cancer and identified 12 distinct mutations in 35 families..	94	107	14	ovarian cancer	textual - "ovarian cancer" yields both UMLS codes.	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
602	8649785	1	We report details of a family with classic Li-Fraumeni syndrome in which there is a mutation in codon 344 of the tumour suppressor gene TP53.	44	63	20	Li-Fraumeni syndrome	textual	[C0085390]	Li-Fraumeni Syndrome			
603	8651278	1	We have searched for germ-line RB1 mutations in 119 patients with hereditary retinoblastoma.	67	91	25	hereditary retinoblastoma	textual	[ C0751483 ]	Familial Retinoblastoma			
604	8659522	1	Abnormal CAG expansions in the IT-15 gene are associated with Huntington disease HD.	82	83	2	HD	textual - yields correct UMLS code, however, also yields 4 others	[C0020179]	Huntington Disease			
604	8659522	1	Abnormal CAG expansions in the IT-15 gene are associated with Huntington disease HD.	63	80	18	Huntington disease	textual - yields correct UMLS code, however, also yields UMLS code for "HD gene	[C0020179]	Huntington Disease			
605	8659549	1	Canavan disease is inherited as an autosomal recessive trait that is caused by the deficiency of aspartoacylase ASPA.	1	15	15	Canavan disease	textual	[ C0206307 ]	Canavan Disease			
605	8659549	1	Canavan disease is inherited as an autosomal recessive trait that is caused by the deficiency of aspartoacylase ASPA.	84	111	28	deficiency of aspartoacylase	textual	[ C0206307 ]	Canavan Disease			
606	8659549	12	In vitro expression of mutant cDNA clones demonstrated that all of these mutations led to a deficiency of ASPA and should therefore result in Canavan disease..	93	110	18	deficiency of ASPA	textual	[ C0206307 ]	Canavan Disease			
606	8659549	12	In vitro expression of mutant cDNA clones demonstrated that all of these mutations led to a deficiency of ASPA and should therefore result in Canavan disease..	143	157	15	Canavan disease	textual	[ C0206307 ]	Canavan Disease			
607	8661102	1	Atm, the mouse homolog of the human ATM gene defective in ataxia-telangiectasia (A-T), has been identified.	82	84	3	A-T	textual - yields wrong UMLS code	[ C0004135 ]	Ataxia Telangiectasia			
607	8661102	1	Atm, the mouse homolog of the human ATM gene defective in ataxia-telangiectasia (A-T), has been identified.	59	79	21	ataxia-telangiectasia	textual	[ C0004135 ]	Ataxia Telangiectasia			
608	8666397	1	The mouse WASP gene, the homolog of the gene mutated in Wiskott-Aldrich syndrome, has been isolated and sequenced.	57	80	24	Wiskott-Aldrich syndrome	textual	[ C0043194 ]	Wiskott-Aldrich Syndrome			
609	8666397	7	This localization makes Wasp a candidate for involvement in scurfy, a T cell-mediated fatal lymphoreticular disease of mice that has previously been proposed as a mouse homolog of Wiskott-Aldrich syndrome.	181	204	24	Wiskott-Aldrich syndrome	textual	[ C0043194 ]	Wiskott-Aldrich Syndrome			
610	8670333	2	To clarify whether colchicine is excreted in breast milk, and to compare its concentrations in the serum and breast milk of lactating women who have familial Mediterranean fever FMF.	179	181	3	FMF	textual - yields correct UMLS code, however, also yields "MEFV Gene" UMLS code	[ C0031069 ]	Familial Mediterranean Fever			
610	8670333	2	To clarify whether colchicine is excreted in breast milk, and to compare its concentrations in the serum and breast milk of lactating women who have familial Mediterranean fever FMF.	150	177	28	familial Mediterranean fever	textual	[ C0031069 ]	Familial Mediterranean Fever			
611	8673131	1	Myotonic dystrophy (DM) is commonly associated with CTG repeat expansions within the gene for DM-protein kinase DMPK.	21	22	2	DM	textual - yields correct UMLS code, however, also yields 8 others	[ C0027126 ]	Myotonic Dystrophy			
611	8673131	1	Myotonic dystrophy (DM) is commonly associated with CTG repeat expansions within the gene for DM-protein kinase DMPK.	1	18	18	Myotonic dystrophy	textual	[ C0027126 ]	Myotonic Dystrophy			
612	8673132	1	Myotonic dystrophy (DM) is an autosomal dominant disorder resulting from the expansion of a CTG repeat in the 3' untranslated region of a putative protein kinase DMPK.	21	22	2	DM	textual - yields correct UMLS code, however, also yields 8 others	[ C0027126 ]	Myotonic Dystrophy			
612	8673132	1	Myotonic dystrophy (DM) is an autosomal dominant disorder resulting from the expansion of a CTG repeat in the 3' untranslated region of a putative protein kinase DMPK.	1	18	18	Myotonic dystrophy	textual	[ C0027126 ]	Myotonic Dystrophy			
613	8674108	1	Mutations of the BRCA1 gone in humans are associated with predisposition to breast and ovarian cancers.	77	102	26	breast and ovarian cancers	intuitive: list is present. A search of "breast cancer" yields 2 UMLS codes	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
613	8674108	1	Mutations of the BRCA1 gone in humans are associated with predisposition to breast and ovarian cancers.	88	102	15	ovarian cancers	textual - yields both UMLS codes.	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
614	8675707	8	Thus, genetic CETP deficiency appears to be an independent risk factor for CHD, primarily due to increased CHD prevalence in men with the D442G mutation and HDL cholesterol between 41 and 60 mg/dl.	15	29	15	CETP deficiency	textual	[ C1846485 ]	CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY			
615	8678979	1	The Rb1 gene has been implicated with retinoblastoma and is located on human Chromosome (Chr) 13q14.2. A unique sequence human Rb1 cosmid DNA probe has been used to localize this region on apes' Chr 14 by the FISH technique.	39	52	14	retinoblastoma	textual - yields correct UMLS code, however, also yieldds UMLS code for "RB1 gene	[C0035335]	Retinoblastoma			
616	8682510	1	The Wiskott-Aldrich syndrome protein (WASP) gene was found to be mutated in patients presenting with WAS and in patients showing X-linked thrombocytopenia.	102	104	3	WAS	textual - yields correct UMLS code, however, also yields 20 others	[ C0043194 ]	Wiskott-Aldrich Syndrome			
616	8682510	1	The Wiskott-Aldrich syndrome protein (WASP) gene was found to be mutated in patients presenting with WAS and in patients showing X-linked thrombocytopenia.	5	28	24	Wiskott-Aldrich syndrome	textual	[ C0043194 ]	Wiskott-Aldrich Syndrome			
616	8682510	1	The Wiskott-Aldrich syndrome protein (WASP) gene was found to be mutated in patients presenting with WAS and in patients showing X-linked thrombocytopenia.	130	154	25	X-linked thrombocytopenia	textual	[ C0043194 ]	Wiskott-Aldrich Syndrome			
617	8689689	1	Aniridia in man and Small eye in mice are semidominant developmental disorders caused by mutations within the paired box gene PAX6.	1	8	8	Aniridia	textual	[ C0003076 ]	Aniridia			
618	8692963	6	These results are significant not only in terms of their implications for furthering our understanding of galactosemia and GALT holoenzyme structure-function relationships but also because the system described may serve as a model for similar studies of other complexes composed of multiple subunits..	107	118	12	galactosemia	textual	[ C0016952 ]	Galactosemias			
619	8696339	1	Apoptosis has recently been recognized as a mode of cell death in Huntington disease HD.	86	87	2	HD	textual - yields correct UMLS code, however, also yields 4 others	[C0020179]	Huntington Disease			
619	8696339	1	Apoptosis has recently been recognized as a mode of cell death in Huntington disease HD.	1	9	9	Apoptosis	textual	[ C0162638 ]	Apoptosis			
619	8696339	1	Apoptosis has recently been recognized as a mode of cell death in Huntington disease HD.	67	84	18	Huntington disease	textual - yields correct UMLS code, however, also yields UMLS code for "HD gene	[C0020179]	Huntington Disease			
620	8700509	1	To begin to address the hypothesis that abnormal regulation of the breast/ovarian cancer susceptibility gene BRCA1 is a critical step in sporadic breast/ovarian tumorigenesis, we have determined the detailed structure of the BRCA1 genomic region.	68	88	21	breast/ovarian cancer	intuitive: list is present. A search of "breast cancer" yields 2 UMLS codes	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
620	8700509	1	To begin to address the hypothesis that abnormal regulation of the breast/ovarian cancer susceptibility gene BRCA1 is a critical step in sporadic breast/ovarian tumorigenesis, we have determined the detailed structure of the BRCA1 genomic region.	75	88	14	ovarian cancer	textual - yields both UMLS codes.	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
620	8700509	1	To begin to address the hypothesis that abnormal regulation of the breast/ovarian cancer susceptibility gene BRCA1 is a critical step in sporadic breast/ovarian tumorigenesis, we have determined the detailed structure of the BRCA1 genomic region.	138	174	37	sporadic breast/ovarian tumorigenesis	intuitive - list is present	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast			
620	8700509	1	To begin to address the hypothesis that abnormal regulation of the breast/ovarian cancer susceptibility gene BRCA1 is a critical step in sporadic breast/ovarian tumorigenesis, we have determined the detailed structure of the BRCA1 genomic region.	138	174	37	sporadic breast/ovarian tumorigenesis	textual	T0000018 - C0029925, C1140680 	Ovarian Cancer Group			
621	8723064	1	The small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome PWS.	127	129	3	PWS	textual	[ C0032897 ]	Prader-Willi Syndrome			
621	8723064	1	The small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome PWS.	105	125	21	Prader-Willi syndrome	textual	[ C0032897 ]	Prader-Willi Syndrome			
622	8733131	2	Germline VHL gene mutations predispose to the development of retinal, cerebellar and spinal haemangioblastomas, renal cell carcinoma and phaeochromocytoma.	62	110	49	retinal, cerebellar and spinal haemangioblastomas	intuitive: list is present. A search for "retinal haemangioblastomas"  yields annotated UMLS code	[ C1514915 ]	Retinal Capillary Hemangioblastoma			
622	8733131	2	Germline VHL gene mutations predispose to the development of retinal, cerebellar and spinal haemangioblastomas, renal cell carcinoma and phaeochromocytoma.	71	110	40	cerebellar and spinal haemangioblastomas	intuitive: list is present. A search for "cerebellar haemangioblastomas"  yields annotated UMLS code	[ C1332900 ]	Cerebellar hemangioblastoma			
622	8733131	2	Germline VHL gene mutations predispose to the development of retinal, cerebellar and spinal haemangioblastomas, renal cell carcinoma and phaeochromocytoma.	86	110	25	spinal haemangioblastomas	Could not find suitable UMLS code					
622	8733131	2	Germline VHL gene mutations predispose to the development of retinal, cerebellar and spinal haemangioblastomas, renal cell carcinoma and phaeochromocytoma.	113	132	20	renal cell carcinoma	textual	[ C0007134 ]	Renal Cell Carcinoma			
622	8733131	2	Germline VHL gene mutations predispose to the development of retinal, cerebellar and spinal haemangioblastomas, renal cell carcinoma and phaeochromocytoma.	138	154	17	phaeochromocytoma	textual	[ C0031511 ]	Pheochromocytoma			
623	8733131	3	In addition, somatic Inactivation of the VHL gene is frequent in sporadic renal cell carcinoma and haemangioblastoma.	75	94	20	renal cell carcinoma	textual	[ C0007134 ]	Renal Cell Carcinoma			
623	8733131	3	In addition, somatic Inactivation of the VHL gene is frequent in sporadic renal cell carcinoma and haemangioblastoma.	100	116	17	haemangioblastoma	textual	[ C0206734 ]	hemangioblastoma			
624	8751855	3	We describe the proportion of hereditary breast cancer explained by BRCA1 or BRCA2 in a sample of North American hereditary breast cancers and assess the evidence for additional susceptibility genes that may confer hereditary breast or ovarian cancer risk.	114	138	25	hereditary breast cancers	textual	[ C0346153 ]	Familial cancer of breast			
624	8751855	3	We describe the proportion of hereditary breast cancer explained by BRCA1 or BRCA2 in a sample of North American hereditary breast cancers and assess the evidence for additional susceptibility genes that may confer hereditary breast or ovarian cancer risk.	216	250	35	hereditary breast or ovarian cancer	intuitive: list is present	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
624	8751855	3	We describe the proportion of hereditary breast cancer explained by BRCA1 or BRCA2 in a sample of North American hereditary breast cancers and assess the evidence for additional susceptibility genes that may confer hereditary breast or ovarian cancer risk.	216	250	35	hereditary breast or ovarian cancer	intuitive: list is present	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
625	8755645	4	Three sisters were shown to suffer from fish-eye disease (FED), a disorder which is caused by mutations in the gene coding for lecithin:cholesterol acyltransferase LCAT.	59	61	3	FED	textual - yields correct UMLS code, however, also yields 2 others	[ C0342895 ]	Fish-Eye Disease			
625	8755645	4	Three sisters were shown to suffer from fish-eye disease (FED), a disorder which is caused by mutations in the gene coding for lecithin:cholesterol acyltransferase LCAT.	41	56	16	fish-eye disease	textual	[ C0342895 ]	Fish-Eye Disease			
626	8755918	1	We have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less severe clinical and cellular phenotype approximately 10%-15% of A-T families identified in the United Kingdom.	60	62	3	A-T	textual - yields wrong UMLS code	[ C0004135 ]	Ataxia Telangiectasia			
626	8755918	1	We have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less severe clinical and cellular phenotype approximately 10%-15% of A-T families identified in the United Kingdom.	189	191	3	A-T	textual - yields wrong UMLS code	[ C0004135 ]	Ataxia Telangiectasia			
626	8755918	1	We have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less severe clinical and cellular phenotype approximately 10%-15% of A-T families identified in the United Kingdom.	37	57	21	ataxia-telangiectasia	textual	[ C0004135 ]	Ataxia Telangiectasia			
627	8758207	1	To define the possible role of the VHL gene in the development of sporadic renal cell carcinomas, 91 different parenchymal tumours of the kidney have been investigated for mutation of the VHL gene by single strand conformation polymorphism (SSCP) and/or heteroduplex (HD) techniques.	76	96	21	renal cell carcinomas	textual	[ C0007134 ]	Renal Cell Carcinoma			
628	8758207	7	The results indicate that mutation of the VHL gene is associated exclusively with the development of non-papillary renal cell carcinoma..	116	135	20	renal cell carcinoma	textual	[ C0007134 ]	Renal Cell Carcinoma			
629	8776595	5	A muscle biopsy from an Emery-Dreifuss muscular dystrophy (EMDM) patient showed complete absence of emerin by both Western blotting and immunohistochemistry, suggesting a simple diagnostic antibody test for EDMD families.	60	63	4	EMDM	textual - yields no UMLS codes	[ C0410189 ]	Muscular Dystrophy, Emery-Dreifuss			
629	8776595	5	A muscle biopsy from an Emery-Dreifuss muscular dystrophy (EMDM) patient showed complete absence of emerin by both Western blotting and immunohistochemistry, suggesting a simple diagnostic antibody test for EDMD families.	25	57	33	Emery-Dreifuss muscular dystrophy	textual	[ C0410189 ]	Muscular Dystrophy, Emery-Dreifuss			
630	8782829	5	Thus, we screened 16 endometrial carcinomas with microsatellite instability for alterations in FEN1 (the human homolog of RTH) and in MSH3 refs 12-14.	22	43	22	endometrial carcinomas	textual	[ C0476089 ]	Endometrial Carcinoma			
631	8782829	6	Although we found no FEN1 mutations, a frameshift mutation in MSH3 was observed in an endometrial carcinoma and in an endometrial carcinoma cell line.	87	107	21	endometrial carcinoma	textual	[ C0476089 ]	Endometrial Carcinoma			
631	8782829	6	Although we found no FEN1 mutations, a frameshift mutation in MSH3 was observed in an endometrial carcinoma and in an endometrial carcinoma cell line.	119	139	21	endometrial carcinoma	textual	[ C0476089 ]	Endometrial Carcinoma			
632	8786135	1	Chromosomal locations of the Atm ataxia-telangiectasia AT -mutated and Acat1 (mitochondrial acetoacetyl-CoA thiolase) genes in mouse, rat, and Syrian hamster were determined by direct R-banding FISH.	56	57	2	AT	textual - yields correct UMLS code, however, also yields 7 others	[ C0004135 ]	Ataxia Telangiectasia			
632	8786135	1	Chromosomal locations of the Atm ataxia-telangiectasia AT -mutated and Acat1 (mitochondrial acetoacetyl-CoA thiolase) genes in mouse, rat, and Syrian hamster were determined by direct R-banding FISH.	34	54	21	ataxia-telangiectasia	textual	[ C0004135 ]	Ataxia Telangiectasia			
633	8789439	1	In order to elucidate the cellular and molecular processes which are involved in Norrie disease (ND), we have used gene targeting technology to generate ND mutant mice.	98	99	2	ND	textual - yields correct UMLS code, however, also yields 4 others	[ C0266526 ]	NORRIE DISEASE			
633	8789439	1	In order to elucidate the cellular and molecular processes which are involved in Norrie disease (ND), we have used gene targeting technology to generate ND mutant mice.	82	95	14	Norrie disease	textual	[ C0266526 ]	NORRIE DISEASE			
634	8790412	1	Pediatric alveolar rhabdomyosarcoma is characterized by a chromosomal translocation that fuses parts of the PAX3 and FKHR genes.	1	35	35	Pediatric alveolar rhabdomyosarcoma	textual	[ C0279613 ]	alveolar childhood rhabdomyosarcoma			
635	8808605	3	However, in a small subset of hemizygous males who suffer from chronic nonspherocytic hemolytic anemia, the underlying mutations (designated class I) cause more-severe G6PD deficiency, and this might provide an opportunity for selection in heterozygous females during development.	87	102	16	hemolytic anemia	textual	[ C0002878 ]	Anemia, Hemolytic			
635	8808605	3	However, in a small subset of hemizygous males who suffer from chronic nonspherocytic hemolytic anemia, the underlying mutations (designated class I) cause more-severe G6PD deficiency, and this might provide an opportunity for selection in heterozygous females during development.	169	183	15	G6PD deficiency	textual	[ C0017920 ]	Glycogen Storage Disease Type I			
636	8808605	7	Thus, it appears that severe G6PD deficiency affects adversely the proliferation or the survival of nucleated blood cells and that this phenotypic characteristic is critical during hematopoiesis..	30	44	15	G6PD deficiency	textual	[ C0017920 ]	Glycogen Storage Disease Type I			
636	8808605	7	Thus, it appears that severe G6PD deficiency affects adversely the proliferation or the survival of nucleated blood cells and that this phenotypic characteristic is critical during hematopoiesis..	182	194	13	hematopoiesis	textual	[ C0018951 ]	Hematopoiesis			
637	8808606	1	Meiotic drive at the myotonic dystrophy (DM) locus has recently been suggested as being responsible for maintaining the frequency, in the human population, of DM chromosomes capable of expansion to the disease state.	22	39	18	myotonic dystrophy	textual	[ C0027126 ]	Myotonic Dystrophy			
638	8812423	11	Using reverse transcriptase combined with polymerase chain reactions in the analysis of a number of lipoma cell lines and primary lipomas, it appeared that LPP is frequently rearranged also in cases without a cytogenetically detectable involvement of 3q27-q28.	131	137	7	lipomas	textual	[ C0023798 ]	Lipoma			
639	8812423	4	Here, we report the identification and characterization of the chromosome 3-derived translocation partner gene, which we have designated LPP lipoma preferred partner gene.	142	147	6	lipoma	textual	[ C0023798 ]	Lipoma			
640	8812423	5	Using 3'-RACE analysis of HMGIC fusion transcripts in lipoma cell line Li-501/SV40, ectopic genetic sequences were obtained, which by CASH (chromosome assignment using somatic cell hybrids) and FISH (fluorescence in situ hybridization) analysis were found to originate from chromosome segment 3q27-q28.	55	60	6	lipoma	textual	[ C0023798 ]	Lipoma			
641	8824873	1	The mutation underlying Huntington disease (HD) is CAG expansion in the first exon of the HD gene.	45	46	2	HD	textual - yields correct UMLS code, however, also yields 4 others	[C0020179]	Huntington Disease			
641	8824873	1	The mutation underlying Huntington disease (HD) is CAG expansion in the first exon of the HD gene.	25	42	18	Huntington disease	textual - yields correct UMLS code, however, also yields UMLS code for "HD gene	[C0020179]	Huntington Disease			
642	8825052	2	Fluorescence in situ hybridisation (FISH) studies with distal 11p13 specific cosmids showed that the chromosome 11 breakpoint lay between the aniridia (PAX6) locus and a region approximately 100 kb distal to PAX6 defined by the cosmid FO2121.	143	150	8	aniridia	textual	[ C0003076 ]	Aniridia			
643	8825052	3	Although this patient did not have a detectable deletion within PAX6, her aniridia may have resulted from a disruption of the distal chromatin domain containing either enhancers or regulators for PAX6.	75	82	8	aniridia	textual	[ C0003076 ]	Aniridia			
644	8825599	1	Muscle expression of G6PD deficiency has been investigated in Mediterranean, Seattle-like and A-variants.	22	36	15	G6PD deficiency	textual	[ C0017920 ]	Glycogen Storage Disease Type I			
645	8828602	1	Classical phenylketonuria (PKU) is an autosomal recessive disorder caused by a deficiency of hepatic phenylalanine hydroxylase PAH.	28	30	3	PKU	textual - yields correct UMLS code, however also yields 2 others, with one being Phenylketonurias [C0031485] a possible synonym	[ C0751434 ]	Classical phenylketonuria	[C0031485]		
645	8828602	1	Classical phenylketonuria (PKU) is an autosomal recessive disorder caused by a deficiency of hepatic phenylalanine hydroxylase PAH.	1	25	25	Classical phenylketonuria	textual	[ C0751434 ]	Classical phenylketonuria			
646	8833159	2	Recently, a missense mutation in transmembrane domain 2 of CHRNA4 was found to be associated with autosomal dominant nocturnal frontal lobe epilepsy in one extended pedigree.	128	148	21	frontal lobe epilepsy	textual	[ C0085541 ]	Epilepsy, Frontal Lobe			
647	8841191	2	Mutations in BRCA1 account for approximately 45% of familial breast cancer and 90% of inherited breast/ovarian cancer, whereas mutations in BRCA2 account for a comparable percentage of inherited breast cancer cases.	53	74	22	familial breast cancer	textual	[ C0346153 ]	Familial cancer of breast			
647	8841191	2	Mutations in BRCA1 account for approximately 45% of familial breast cancer and 90% of inherited breast/ovarian cancer, whereas mutations in BRCA2 account for a comparable percentage of inherited breast cancer cases.	87	117	31	inherited breast/ovarian cancer	intuitive: list is present text means the same thing as "hereditary breast/ovarian cancer" which yields a unique UMLS code	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
647	8841191	2	Mutations in BRCA1 account for approximately 45% of familial breast cancer and 90% of inherited breast/ovarian cancer, whereas mutations in BRCA2 account for a comparable percentage of inherited breast cancer cases.	87	117	31	inherited breast/ovarian cancer	intuitive: does not yield UMLS code, however I believe it should be a synonym	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
647	8841191	2	Mutations in BRCA1 account for approximately 45% of familial breast cancer and 90% of inherited breast/ovarian cancer, whereas mutations in BRCA2 account for a comparable percentage of inherited breast cancer cases.	186	208	23	inherited breast cancer	intuitive: does not yield UMLS code, however I believe it should be a synonym	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	Familial cancer of breast C0346153		
648	8843193	1	The gene mutated in ataxia-telangiectasia (AT) patients, denoted ATM, encodes a putative protein or lipid kinase.	44	45	2	AT	textual - yields correct UMLS code, however, also yields 7 others	[ C0004135 ]	Ataxia Telangiectasia			
648	8843193	1	The gene mutated in ataxia-telangiectasia (AT) patients, denoted ATM, encodes a putative protein or lipid kinase.	21	41	21	ataxia-telangiectasia	textual	[ C0004135 ]	Ataxia Telangiectasia			
649	8843194	1	ATM, the gene mutated in the inherited human disease ataxia-telangiectasia, is a member of a family of kinases involved in DNA metabolism and cell-cycle checkpoint control.	54	74	21	ataxia-telangiectasia	textual	[ C0004135 ]	Ataxia Telangiectasia			
650	8843194	3	Initial evaluation of the ATM knockout animals indicates that inactivation of the mouse ATM gene recreates much of the phenotype of ataxia-telangiectasia.	133	153	21	ataxia-telangiectasia	textual	[ C0004135 ]	Ataxia Telangiectasia			
651	8845838	10	None of the patients harbored identical mutations suggesting that the mutational heterogeneity in VLCAD deficiency is large..	99	114	16	VLCAD deficiency	textual	[ C0342784 ]	Very long chain acyl-CoA dehydrogenase deficiency			
652	8845838	7	This agrees well with the fact that cardiac and muscle symptoms are characteristic for patients with VLCAD deficiency.	37	63	27	cardiac and muscle symptoms	intuitive: list is present. A search of "cardiac symptom" yields annotated UMLS code	[ C0741933 ]	CARDIAC SYMPTOM			
653	8845838	8	Northern blot analysis and sequencing of cloned PCR amplified VLCAD cDNA from four unrelated patients with VLCAD deficiency showed that VLCAD mRNA was undetectable in one patient and that the other three have mutations in both VLCAD alleles.	108	123	16	VLCAD deficiency	textual	[ C0342784 ]	Very long chain acyl-CoA dehydrogenase deficiency			
654	8871666	6	The haplotype has been found in combination with a number of other haplotypes containing defective genes that lead either to C6 or C7 deficiency, but with different consequences.	126	144	19	C6 or C7 deficiency	intuitive: I believe "C6" is the abbreviation for "Complement 6", a search for "Complement 6 Deficiency" yields annotated UMLS code	[ C0398767 ]	Complement 6 deficiency			
654	8871666	6	The haplotype has been found in combination with a number of other haplotypes containing defective genes that lead either to C6 or C7 deficiency, but with different consequences.	132	144	13	C7 deficiency	textual	[ C1864694 ]	COMPLEMENT COMPONENT 7 DEFICIENCY			
655	8892662	1	Complement C7 deficiency (C7D) is associated frequently with recurrent bacterial infections, especially meningitis caused by Neisseria meningitidis.	12	24	13	C7 deficiency	textual	[ C1864694 ]	COMPLEMENT COMPONENT 7 DEFICIENCY			
655	8892662	1	Complement C7 deficiency (C7D) is associated frequently with recurrent bacterial infections, especially meningitis caused by Neisseria meningitidis.	62	91	30	recurrent bacterial infections	textual	[ C1844383 ]	Recurrent bacterial infection			
655	8892662	1	Complement C7 deficiency (C7D) is associated frequently with recurrent bacterial infections, especially meningitis caused by Neisseria meningitidis.	105	114	10	meningitis	intuitive: the mention is reffering to the bacterial caused meningitis	[ C0085437 ]	Meningitis, Bacterial			
655	8892662	1	Complement C7 deficiency (C7D) is associated frequently with recurrent bacterial infections, especially meningitis caused by Neisseria meningitidis.	126	147	22	Neisseria meningitidis	textual	[ C0027575 ]	Neisseria meningitidisa			
656	8894695	2	HPRT-deficient mice generated using mouse embryonic stem cells exhibit none of the behavioral symptoms associated with the Lesch-Nyhan syndrome.	124	143	20	Lesch-Nyhan syndrome	textual	[ C0023374 ]	Lesch-Nyhan Syndrome			
657	8894695	8	Thus, APRT-HPRT-deficient mice, which are devoid of any purine salvage pathways, show no novel phenotype and are not a model for the behavioral abnormalities associated with the Lesch-Nyhan syndrome as previously suggested..	12	25	14	HPRT-deficient	intuitive: the text states a deficiecy of HPRT, a query of "HPRT deficiency" yields annotated UMLS code	[ C0023374 ]	Lesch-Nyhan Syndrome			
658	8898652	2	The DPC4 gene, which is located at 18q21, has been identified as a tumor-suppressor gene from examination of pancreatic cancers.	110	127	18	pancreatic cancers	textual	[C0346647]  [C0235974]	Malignant neoplasm of pancreas, Pancreatic carcinoma			
659	8917548	1	We have generated a mouse model for ataxia-telangiectasia by using gene targeting to generate mice that do not express the Atm protein.	37	57	21	ataxia-telangiectasia	textual	[ C0004135 ]	Ataxia Telangiectasia			
660	8917548	5	Atm-deficient mice then exhibit many of the same symptoms found in ataxia-telangiectasia patients and in cells derived from them.	68	88	21	ataxia-telangiectasia	textual	[ C0004135 ]	Ataxia Telangiectasia			
661	8929264	9	CONCLUSIONS: DCC is a prognostic marker in patients with stage II or stage III colorectal cancer.	58	96	40	stage II or stage III colorectal cancer.	intuitive: list is present. a query of "stage II colorectal cancer" yields annotated code	[ C0677948 ]	Colorectal cancer stage II			
661	8929264	9	CONCLUSIONS: DCC is a prognostic marker in patients with stage II or stage III colorectal cancer.	70	96	27	stage III colorectal cancer	textual	[ C0677949 ]	Colorectal cancer stage III			
662	8929413	4	Association studies in two independent samples totaling 505 individuals revealed that the 5-HTT polymorphism accounts for 3 to 4 percent of total variation and 7 to 9 percent of inherited variance in anxiety-related personality traits in individuals as well as sibships..	201	207	7	anxiety	textual - yields correct UMLS code, however, also yields UMLS code for "Anxiety Adverse Event	[C0003467]	Anxiety			
663	8931695	1	Mutations in the diastrophic dysplasia sulfate transporter gene DTDST have been associated with a family of chondrodysplasias that comprises, in order of increasing severity, diastrophic dysplasia (DTD), atelosteogenesis type 2 (AO2), and achondrogenesis type 1B ACG1B.	199	201	3	DTD	textual - yields correct UMLS code, however, also yields 3 others	[ C0220726 ]	Diastrophic dysplasia			
663	8931695	1	Mutations in the diastrophic dysplasia sulfate transporter gene DTDST have been associated with a family of chondrodysplasias that comprises, in order of increasing severity, diastrophic dysplasia (DTD), atelosteogenesis type 2 (AO2), and achondrogenesis type 1B ACG1B.	230	232	3	AO2	textual - yields different UMLS code, however, it seems to be a duplicate code to the annotated UMLS code. [ C1850554 ] ATELOSTEOGENESIS, TYPE II	[ C0432203 ]	Atelosteogenesis type 2	[ C1850554 ]		
663	8931695	1	Mutations in the diastrophic dysplasia sulfate transporter gene DTDST have been associated with a family of chondrodysplasias that comprises, in order of increasing severity, diastrophic dysplasia (DTD), atelosteogenesis type 2 (AO2), and achondrogenesis type 1B ACG1B.	264	268	5	ACG1B	textual - yields no UMLS code	[ C0001079 ]	Achondrogenesis			
663	8931695	1	Mutations in the diastrophic dysplasia sulfate transporter gene DTDST have been associated with a family of chondrodysplasias that comprises, in order of increasing severity, diastrophic dysplasia (DTD), atelosteogenesis type 2 (AO2), and achondrogenesis type 1B ACG1B.	18	38	21	diastrophic dysplasia	textual	[ C0220726 ]	Diastrophic dysplasia			
663	8931695	1	Mutations in the diastrophic dysplasia sulfate transporter gene DTDST have been associated with a family of chondrodysplasias that comprises, in order of increasing severity, diastrophic dysplasia (DTD), atelosteogenesis type 2 (AO2), and achondrogenesis type 1B ACG1B.	109	125	17	chondrodysplasias	textual	[ C0343284 ]	Chondrodysplasia, unspecified			
663	8931695	1	Mutations in the diastrophic dysplasia sulfate transporter gene DTDST have been associated with a family of chondrodysplasias that comprises, in order of increasing severity, diastrophic dysplasia (DTD), atelosteogenesis type 2 (AO2), and achondrogenesis type 1B ACG1B.	176	196	21	diastrophic dysplasia	textual	[ C0220726 ]	Diastrophic dysplasia			
663	8931695	1	Mutations in the diastrophic dysplasia sulfate transporter gene DTDST have been associated with a family of chondrodysplasias that comprises, in order of increasing severity, diastrophic dysplasia (DTD), atelosteogenesis type 2 (AO2), and achondrogenesis type 1B ACG1B.	205	227	23	atelosteogenesis type 2	textual	[ C0432203 ]	Atelosteogenesis type 2			
663	8931695	1	Mutations in the diastrophic dysplasia sulfate transporter gene DTDST have been associated with a family of chondrodysplasias that comprises, in order of increasing severity, diastrophic dysplasia (DTD), atelosteogenesis type 2 (AO2), and achondrogenesis type 1B ACG1B.	240	262	23	achondrogenesis type 1B	textual - no UMLS code corresponds with this specific type of achondrogenesis.  A query of "achondrogenesis" yields the annotated UMLS code	[ C0001079 ]	Achondrogenesis			
664	8931701	1	The Wiskott-Aldrich syndrome (WAS), an X-linked immunodeficiency disease caused by mutation in the recently isolated gene encoding WAS protein (WASP), is known to be associated with extensive clinical heterogeneity.	31	33	3	WAS	textual - yields correct UMLS code, however, also yields 20 others	[ C0043194 ]	Wiskott-Aldrich Syndrome			
664	8931701	1	The Wiskott-Aldrich syndrome (WAS), an X-linked immunodeficiency disease caused by mutation in the recently isolated gene encoding WAS protein (WASP), is known to be associated with extensive clinical heterogeneity.	5	28	24	Wiskott-Aldrich syndrome	textual	[ C0043194 ]	Wiskott-Aldrich Syndrome			
664	8931701	1	The Wiskott-Aldrich syndrome (WAS), an X-linked immunodeficiency disease caused by mutation in the recently isolated gene encoding WAS protein (WASP), is known to be associated with extensive clinical heterogeneity.	40	72	33	X-linked immunodeficiency disease	textual	[ C1279481 ]	X-Linked Combined Immunodeficiency Diseases			
665	8931709	3	Mutations at the 5' end of APC are known to be associated with a relatively mild form of the disease, called attenuated adenomatous polyposis coli AAPC.	148	151	4	AAPC	textual	[ C1868019 ]	ADENOMATOUS POLYPOSIS COLI, ATTENUATED			
665	8931709	3	Mutations at the 5' end of APC are known to be associated with a relatively mild form of the disease, called attenuated adenomatous polyposis coli AAPC.	110	146	37	attenuated adenomatous polyposis coli	textual	[ C1868019 ]	ADENOMATOUS POLYPOSIS COLI, ATTENUATED			
666	8938427	1	Over 100 distinct disease-associated mutations have been identified in the breast-ovarian cancer susceptibility gene BRCA1.	76	96	21	breast-ovarian cancer	intuitive: list is present. A search of "breast cancer" yields 2 UMLS codes	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
666	8938427	1	Over 100 distinct disease-associated mutations have been identified in the breast-ovarian cancer susceptibility gene BRCA1.	83	96	14	ovarian cancer	textual -  yields both UMLS codes.	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
667	8944023	1	The hereditary breast and ovarian cancer gene, BRCA1, encodes a large polypeptide that contains the cysteine-rich RING motif, a zinc-binding domain found in a variety of regulatory proteins.	5	40	36	hereditary breast and ovarian cancer	intuitive - list is present	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
667	8944023	1	The hereditary breast and ovarian cancer gene, BRCA1, encodes a large polypeptide that contains the cysteine-rich RING motif, a zinc-binding domain found in a variety of regulatory proteins.	5	40	36	hereditary breast and ovarian cancer	intuitive - list is present	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
668	8944024	2	We have designed high-density arrays consisting of over 96,600 oligonucleotides 20-nucleotides (nt) in length to screen for a wide range of heterozygous mutations in the 3.45-kilobases (kb) exon 11 of the hereditary breast and ovarian cancer gene BRCA1.	206	241	36	hereditary breast and ovarian cancer	intuitive - list is present	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
668	8944024	2	We have designed high-density arrays consisting of over 96,600 oligonucleotides 20-nucleotides (nt) in length to screen for a wide range of heterozygous mutations in the 3.45-kilobases (kb) exon 11 of the hereditary breast and ovarian cancer gene BRCA1.	206	241	36	hereditary breast and ovarian cancer	intuitive - list is present	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
669	8954016	1	Hereditary hyperparathyroidism-jaw tumor syndrome (HPT-JT) is an autosomal dominant disease (OMIM 145001) that has recently been mapped to chromosomal region 1q21-q32 HRPT2.	1	49	49	Hereditary hyperparathyroidism-jaw tumor syndrome	textual	[ C1704981 ]	Hyperparathyroidism-Jaw Tumor Syndrome			
669	8954016	1	Hereditary hyperparathyroidism-jaw tumor syndrome (HPT-JT) is an autosomal dominant disease (OMIM 145001) that has recently been mapped to chromosomal region 1q21-q32 HRPT2.	52	57	6	HPT-JT	textual - yields correct UMLS code, however, also yields 1 other	[ C1704981 ]	Hyperparathyroidism-Jaw Tumor Syndrome			
670	8956035	3	In a study of G6PD deficient patients who presented with clinical favism in Spain, we have found a new polymorphic variant that we have called G6PD Malaga, whose only abnormality is a 542 A--T (181 Asp--Val) mutation.	15	28	14	G6PD deficient	intuitive: text states a "G6PD deficiency", a query of "G6PD deficiency" yields annotated UMLS code	[ C0017920 ]	Glycogen Storage Disease Type I			
670	8956035	3	In a study of G6PD deficient patients who presented with clinical favism in Spain, we have found a new polymorphic variant that we have called G6PD Malaga, whose only abnormality is a 542 A--T (181 Asp--Val) mutation.	67	72	6	favism	textual	[ C0015702 ]	Favism			
671	8968716	1	BRCA1 mutations cause increased risk for breast and ovarian cancer, frequently of early onset.	42	66	25	breast and ovarian cancer	intuitive: list is present. A search of "breast cancer" yields 2 UMLS codes	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
671	8968716	1	BRCA1 mutations cause increased risk for breast and ovarian cancer, frequently of early onset.	53	66	14	ovarian cancer	textual -  yields both UMLS codes.	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
672	8968716	3	These common mutations have an etiological role in many breast and ovarian cancer cases and provide the opportunity to examine genotype-phenotype correlations and genotype-environment interactions in individuals with the identical BRCA1 lesion.	57	81	25	breast and ovarian cancer	intuitive: list is present. A search of "breast cancer" yields 2 UMLS codes	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
672	8968716	3	These common mutations have an etiological role in many breast and ovarian cancer cases and provide the opportunity to examine genotype-phenotype correlations and genotype-environment interactions in individuals with the identical BRCA1 lesion.	68	81	14	ovarian cancer	textual -  yields both UMLS codes.	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
673	8968716	4	We report a novel missense change in BRCA1, 2640 C--T (R841W), found in 3 cases from a subject group of 305 breast and 79 ovarian cancer cases from Orange County, CA.	109	136	28	breast and 79 ovarian cancer	intuitive: list is present. A search of "breast cancer" yields 2 UMLS codes	[C0678222][C0006142]	Breast Carcinoma,  Malignant neoplasm of breast			
673	8968716	4	We report a novel missense change in BRCA1, 2640 C--T (R841W), found in 3 cases from a subject group of 305 breast and 79 ovarian cancer cases from Orange County, CA.	123	136	14	ovarian cancer	textual -  yields both UMLS codes.	[C1140680]  [C0029925]	Malignant neoplasm of ovary, Ovarian Carcinoma			
674	8968716	6	In all three cases, there is a strong family history of breast, ovarian, or other cancers possibly related to a BRCA1 defect and family members showed a high concordance of cancer incidence with the presence of R841W.	57	89	33	breast, ovarian, or other cancers	intuitive: list is present. A search of "breast cancer" yields 2 UMLS codes	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
674	8968716	6	In all three cases, there is a strong family history of breast, ovarian, or other cancers possibly related to a BRCA1 defect and family members showed a high concordance of cancer incidence with the presence of R841W.	65	89	25	ovarian, or other cancers	intuitive: list is present. A search of "ovarian cancer" yields 2 UMLS codes	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
674	8968716	6	In all three cases, there is a strong family history of breast, ovarian, or other cancers possibly related to a BRCA1 defect and family members showed a high concordance of cancer incidence with the presence of R841W.	77	89	13	other cancers	textual	[ C1707251 ]	Cancer Other			
675	8968760	1	The ATM gene is responsible for the autosomal recessive disorder ataxia-telangiectasia (A-T), characterized by cerebellar degeneration, immunodeficiency and cancer predisposition.	89	91	3	A-T	textual - yields wrong UMLS code	[ C0004135 ]	Ataxia Telangiectasia			
675	8968760	1	The ATM gene is responsible for the autosomal recessive disorder ataxia-telangiectasia (A-T), characterized by cerebellar degeneration, immunodeficiency and cancer predisposition.	66	86	21	ataxia-telangiectasia	textual	[ C0004135 ]	Ataxia Telangiectasia			
675	8968760	1	The ATM gene is responsible for the autosomal recessive disorder ataxia-telangiectasia (A-T), characterized by cerebellar degeneration, immunodeficiency and cancer predisposition.	112	134	23	cerebellar degeneration	textual	[ C0262404 ]	Cerebellar degeneration			
675	8968760	1	The ATM gene is responsible for the autosomal recessive disorder ataxia-telangiectasia (A-T), characterized by cerebellar degeneration, immunodeficiency and cancer predisposition.	137	152	16	immunodeficiency	textual	[ C0021051 ]	Immunologic Deficiency Syndromes			
675	8968760	1	The ATM gene is responsible for the autosomal recessive disorder ataxia-telangiectasia (A-T), characterized by cerebellar degeneration, immunodeficiency and cancer predisposition.	158	163	6	cancer	textual - yields both annotated UMLS code, however, also yields 2 others	[C0006826]  [C1306459]	Malignant Neoplasms, Primary malignant neoplasm			
676	9012404	1	A population-based series of 54 male breast cancer cases from Southern California were analyzed for germ-line mutations in the inherited breast/ovarian cancer genes, BRCA1 and BRCA2.	33	50	18	male breast cancer	textual	[ C0238033 ]	Carcinoma of Male Breast			
676	9012404	1	A population-based series of 54 male breast cancer cases from Southern California were analyzed for germ-line mutations in the inherited breast/ovarian cancer genes, BRCA1 and BRCA2.	128	158	31	inherited breast/ovarian cancer	intuitive: text means the same thing as "hereditary breast/ovarian cancer" which yields a unique UMLS code	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
676	9012404	1	A population-based series of 54 male breast cancer cases from Southern California were analyzed for germ-line mutations in the inherited breast/ovarian cancer genes, BRCA1 and BRCA2.	128	158	31	inherited breast/ovarian cancer	intuitive: text means the same thing as "hereditary breast/ovarian cancer" which yields a unique UMLS code	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
677	9012404	7	The remaining eight cases (89%) of male breast cancer with a family history of breast/ovarian cancer in first-degree relatives remain unaccounted for by mutations in either the BRCA1 gene or the BRCA2 gene..	36	53	18	male breast cancer	textual	[ C0238033 ]	Carcinoma of Male Breast			
677	9012404	7	The remaining eight cases (89%) of male breast cancer with a family history of breast/ovarian cancer in first-degree relatives remain unaccounted for by mutations in either the BRCA1 gene or the BRCA2 gene..	80	100	21	breast/ovarian cancer	intuitive: list is present text means the same thing as "hereditary breast/ovarian cancer" which yields a unique UMLS code	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
677	9012404	7	The remaining eight cases (89%) of male breast cancer with a family history of breast/ovarian cancer in first-degree relatives remain unaccounted for by mutations in either the BRCA1 gene or the BRCA2 gene..	87	100	14	ovarian cancer	intuitive: text means the same thing as "hereditary breast/ovarian cancer" which yields a unique UMLS code	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
678	9012409	11	We conclude that the codon change N314D in cis with the base-pair transition 1721C--T produces the LA variant of galactosemia and that this nucleotide change increases GALT activity by increasing GALT protein abundance without increasing transcription or decreasing thermal lability.	114	125	12	galactosemia	textual	[ C0016952 ]	Galactosemias			
679	9019400	2	Here, we report that the human homolog, TSG101, which we isolated and mapped to chromosome 11, bands 15.1-15.2, a region proposed to contain tumor suppressor gene(s), is mutated at high frequency in human breast cancer.	206	218	13	breast cancer	textual -  yields both UMLS codes.	[C0678222][C0006142]	Breast Carcinoma,  Malignant neoplasm of breast			
680	9019400	4	No TSG101 defects were found in matched normal breast tissue from the breast cancer patients.	71	83	13	breast cancer	textual -  yields both UMLS codes.	[C0678222][C0006142]	Breast Carcinoma,  Malignant neoplasm of breast			
681	9019400	5	These findings strongly implicate TSG101 mutations in human breast cancer..	61	73	13	breast cancer	textual -  yields both UMLS codes.	[C0678222][C0006142]	Breast Carcinoma,  Malignant neoplasm of breast			
682	9020847	1	Myotonic dystrophy (DM) is associated with the expansion of a (CTG)n trinucleotide repeat in the 3' untranslated region (UTR) of the DM protein kinase gene DMPK.	21	22	2	DM	textual - yields correct UMLS code, however, also yields 8 others	[ C0027126 ]	Myotonic Dystrophy			
682	9020847	1	Myotonic dystrophy (DM) is associated with the expansion of a (CTG)n trinucleotide repeat in the 3' untranslated region (UTR) of the DM protein kinase gene DMPK.	1	18	18	Myotonic dystrophy	textual	[ C0027126 ]	Myotonic Dystrophy			
683	9028321	2	The Fas/Apo-1 receptor plays a crucial role in the regulation of apoptosis, as demonstrated by lymphoproliferation in MRL-lpr/lpr mice and by the recently described autoimmune lymphoproliferative syndrome (ALPS) in humans, both of which are due to mutations in the Fas gene.	207	210	4	ALPS	textual - yields correct UMLS code, however, also yields 13 others	[ C1328840 ]	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME			
683	9028321	2	The Fas/Apo-1 receptor plays a crucial role in the regulation of apoptosis, as demonstrated by lymphoproliferation in MRL-lpr/lpr mice and by the recently described autoimmune lymphoproliferative syndrome (ALPS) in humans, both of which are due to mutations in the Fas gene.	66	74	9	apoptosis	textual	[ C0162638 ]	Apoptosis			
683	9028321	2	The Fas/Apo-1 receptor plays a crucial role in the regulation of apoptosis, as demonstrated by lymphoproliferation in MRL-lpr/lpr mice and by the recently described autoimmune lymphoproliferative syndrome (ALPS) in humans, both of which are due to mutations in the Fas gene.	166	204	39	autoimmune lymphoproliferative syndrome	textual	[ C1328840 ]	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME			
684	9050866	4	Truncated ATM protein was not detected in lymphoblasts from ataxia-telangiectasia patients homozygous for mutations leading to premature protein termination.	61	81	21	ataxia-telangiectasia	textual	[ C0004135 ]	Ataxia Telangiectasia			
685	9050868	3	Mutations in the COL3A1 gene have been implicated as a cause of type IV Ehlers-Danlos syndrome, a disease leading to aortic rupture in early adult life.	65	94	30	type IV Ehlers-Danlos syndrome	textual	[ C0268338 ]	Ehlers-Danlos Syndrome, Type IV			
685	9050868	3	Mutations in the COL3A1 gene have been implicated as a cause of type IV Ehlers-Danlos syndrome, a disease leading to aortic rupture in early adult life.	118	131	14	aortic rupture	textual	[ C0003496 ]	Aortic Rupture			
686	9056547	1	We report a G--A transition at nucleotide 431 of the proteolipid protein gene (PLP) results in a nonsense codon in a family with an unusual form of Pelizaeus-Merzbacher disease PMD.	178	180	3	PMD	textual - yields correct UMLS code, however, also yields 2 others	[ C0205711 ]	Pelizaeus-Merzbacher Disease			
686	9056547	1	We report a G--A transition at nucleotide 431 of the proteolipid protein gene (PLP) results in a nonsense codon in a family with an unusual form of Pelizaeus-Merzbacher disease PMD.	149	176	28	Pelizaeus-Merzbacher disease	textual	[ C0205711 ]	Pelizaeus-Merzbacher Disease			
687	9063749	1	Most multiple case families of young onset breast cancer and ovarian cancer are thought to be due to highly penetrant mutations in the predisposing genes BRCA1 and BRCA2.	44	56	13	breast cancer	intuitive: list is present. A search of "breast cancer" yields 2 UMLS codes	[C0678222][C0006142]	Breast Carcinoma,  Malignant neoplasm of breast			
687	9063749	1	Most multiple case families of young onset breast cancer and ovarian cancer are thought to be due to highly penetrant mutations in the predisposing genes BRCA1 and BRCA2.	62	75	14	ovarian cancer	textual -  yields both UMLS codes.	[C1140680]  [C0029925]	Malignant neoplasm of ovary, Ovarian Carcinoma			
688	9063749	8	Thus the most common polymorphisms of the BRCA1 gene do not make a significant contribution to breast or ovarian cancer risk.	96	119	24	breast or ovarian cancer	intuitive: list is present. A search of "breast cancer" yields 2 UMLS codes	[C0678222][C0006142]	Breast Carcinoma,  Malignant neoplasm of breast			
688	9063749	8	Thus the most common polymorphisms of the BRCA1 gene do not make a significant contribution to breast or ovarian cancer risk.	106	119	14	ovarian cancer	textual -  yields both UMLS codes.	[C1140680]  [C0029925]	Malignant neoplasm of ovary, Ovarian Carcinoma			
689	9066888	5	This is in accordance with molecular findings in other patients with Kniest dysplasia and confirms, in the original patient, that the disorder is caused by small inframe deletions often due to exon skipping as a result of COL2A1 splice site mutations..	70	85	16	Kniest dysplasia	textual	[ C0265279 ]	Kniest dysplasia			
690	9072974	2	In preliminary screens, mutations of PTEN were detected in 31% (13/42) of glioblastoma cell lines and xenografts, 100% (4/4) of prostate cancer cell lines, 6% (4/65) of breast cancer cell lines and xenografts, and 17% (3/18) of primary glioblastomas.	129	143	15	prostate cancer	textual	[C0376358]   [C0600139]	Malignant neoplasm of prostate,  Prostate carcinoma			
690	9072974	2	In preliminary screens, mutations of PTEN were detected in 31% (13/42) of glioblastoma cell lines and xenografts, 100% (4/4) of prostate cancer cell lines, 6% (4/65) of breast cancer cell lines and xenografts, and 17% (3/18) of primary glioblastomas.	170	182	13	breast cancer	textual - yields both UMLS codes	[C0678222][C0006142]	Breast Carcinoma,  Malignant neoplasm of breast			
690	9072974	2	In preliminary screens, mutations of PTEN were detected in 31% (13/42) of glioblastoma cell lines and xenografts, 100% (4/4) of prostate cancer cell lines, 6% (4/65) of breast cancer cell lines and xenografts, and 17% (3/18) of primary glioblastomas.	229	249	21	primary glioblastomas	textual	[ C1514422 ]	Primary Glioblastoma			
690	9072974	2	In preliminary screens, mutations of PTEN were detected in 31% (13/42) of glioblastoma cell lines and xenografts, 100% (4/4) of prostate cancer cell lines, 6% (4/65) of breast cancer cell lines and xenografts, and 17% (3/18) of primary glioblastomas.	229	249	21	primary glioblastomas	textual	[ C1514422 ]	Primary Glioblastoma			
691	9083764	1	The Schwartz-Jampel syndrome (SJS; chondrodystrophic myotonia; McK 255,800) is a recessively inherited condition defined by myotonia, short stature, and bone dysplasia.	31	33	3	SJS	textual	[ C0036391 ]	Schwartz-Jampel Syndrome			
691	9083764	1	The Schwartz-Jampel syndrome (SJS; chondrodystrophic myotonia; McK 255,800) is a recessively inherited condition defined by myotonia, short stature, and bone dysplasia.	5	28	24	Schwartz-Jampel syndrome	textual	[ C0036391 ]	Schwartz-Jampel Syndrome			
691	9083764	1	The Schwartz-Jampel syndrome (SJS; chondrodystrophic myotonia; McK 255,800) is a recessively inherited condition defined by myotonia, short stature, and bone dysplasia.	36	61	26	chondrodystrophic myotonia	textual	[ C0036391 ]	Schwartz-Jampel Syndrome			
691	9083764	1	The Schwartz-Jampel syndrome (SJS; chondrodystrophic myotonia; McK 255,800) is a recessively inherited condition defined by myotonia, short stature, and bone dysplasia.	54	61	8	myotonia	textual	[ C0027125 ]	Myotonia			
691	9083764	1	The Schwartz-Jampel syndrome (SJS; chondrodystrophic myotonia; McK 255,800) is a recessively inherited condition defined by myotonia, short stature, and bone dysplasia.	125	132	8	myotonia	textual	[ C0027125 ]	Myotonia			
691	9083764	1	The Schwartz-Jampel syndrome (SJS; chondrodystrophic myotonia; McK 255,800) is a recessively inherited condition defined by myotonia, short stature, and bone dysplasia.	154	167	14	bone dysplasia	textual	[ C0005941 ]	Bone Diseases, Developmental			
692	9090524	3	While only 5% of sporadic Wilms' tumours have intragenic WT1 mutations,  90% of patients with the Denys-Drash syndrome (renal nephropathy, gonadal anomaly, predisposition to WT) carry constitutional intragenic WT1 mutations.	175	176	2	WT	textual - does not yield correct UMLS code	[ C0027708 ]	Nephroblastoma			
692	9090524	3	While only 5% of sporadic Wilms' tumours have intragenic WT1 mutations,  90% of patients with the Denys-Drash syndrome (renal nephropathy, gonadal anomaly, predisposition to WT) carry constitutional intragenic WT1 mutations.	27	40	14	Wilms' tumours	textual	[ C0027708 ]	Nephroblastoma			
692	9090524	3	While only 5% of sporadic Wilms' tumours have intragenic WT1 mutations,  90% of patients with the Denys-Drash syndrome (renal nephropathy, gonadal anomaly, predisposition to WT) carry constitutional intragenic WT1 mutations.	99	118	20	Denys-Drash syndrome	textual	[ C0950121 ]	Denys-Drash Syndrome			
692	9090524	3	While only 5% of sporadic Wilms' tumours have intragenic WT1 mutations,  90% of patients with the Denys-Drash syndrome (renal nephropathy, gonadal anomaly, predisposition to WT) carry constitutional intragenic WT1 mutations.	127	137	11	nephropathy	textual	[ C0022658 ]	Kidney Diseases			
693	9122265	1	Autosomal dominant myotonia congenita is an inherited disorder of skeletal muscle caused by mutations in a voltage-gated Cl- channel gene CLCN1, 7q35.	20	37	18	myotonia congenita	textual	[ C0027127 ]	Myotonia Congenita			
693	9122265	1	Autosomal dominant myotonia congenita is an inherited disorder of skeletal muscle caused by mutations in a voltage-gated Cl- channel gene CLCN1, 7q35.	55	81	27	disorder of skeletal muscle	textual	[ C1533847 ]	Disorder of skeletal muscle			
694	9138149	1	Twelve aniridia patients, five with a family history and seven presumed to be sporadic, were exhaustively screened in order to test what proportion of people with aniridia, uncomplicated by associated anomalies, carry mutations in the human PAX6 gene.	8	15	8	aniridia	textual	[ C0003076 ]	Aniridia			
694	9138149	1	Twelve aniridia patients, five with a family history and seven presumed to be sporadic, were exhaustively screened in order to test what proportion of people with aniridia, uncomplicated by associated anomalies, carry mutations in the human PAX6 gene.	164	171	8	aniridia	textual	[ C0003076 ]	Aniridia			
695	9144439	1	In the Caucasian population, it has been demonstrated that the insulin gene (INS) region contains the insulin-dependent diabetes mellitus locus IDDM2.	103	137	35	insulin-dependent diabetes mellitus	textual - yields correct UMLS code, however, also yields 1 other	[ C0011854 ]	Diabetes Mellitus, Insulin-Dependent			
696	9144525	4	We studied a previously described Swiss family with inherited C9 deficiency.	63	75	13	C9 deficiency	textual	[ C1852676 ]	C9 DEFICIENCY			
697	9144525	5	To identify the genetic basis of C9 deficiency, we developed an approach using exon-specific PCR and direct DNA sequencing.	34	46	13	C9 deficiency	textual	[ C1852676 ]	C9 DEFICIENCY			
698	9144525	6	As a cause of C9 deficiency, we found two different point mutations, both generating TGA stop codons in the coding sequence.	15	27	13	C9 deficiency	textual	[ C1852676 ]	C9 DEFICIENCY			
699	9144525	8	In family studies of three first-degree relatives with heterozygous C9 deficiency, we demonstrated that the two mutations are segregating independently.	69	81	13	C9 deficiency	textual	[ C1852676 ]	C9 DEFICIENCY			
700	9145677	5	Only 7 percent of women from families with a history of breast cancer but not ovarian cancer had BRCA1 mutations.	57	69	13	breast cancer	textual -  yields both UMLS codes.	[C0678222][C0006142]	Breast Carcinoma,  Malignant neoplasm of breast			
700	9145677	5	Only 7 percent of women from families with a history of breast cancer but not ovarian cancer had BRCA1 mutations.	79	92	14	ovarian cancer	textual -  yields both UMLS codes.	[C1140680]  [C0029925]	Malignant neoplasm of ovary, Ovarian Carcinoma			
701	9145677	7	Among family members, an average age of less than 55 years at the diagnosis of breast cancer, the presence of ovarian cancer, the presence of breast and ovarian cancer in the same woman, and Ashkenazi Jewish ancestry were all associated with an increased risk of detecting a BRCA1 mutation.	80	92	13	breast cancer	textual -  yields both UMLS codes.	[C0678222][C0006142]	Breast Carcinoma,  Malignant neoplasm of breast			
701	9145677	7	Among family members, an average age of less than 55 years at the diagnosis of breast cancer, the presence of ovarian cancer, the presence of breast and ovarian cancer in the same woman, and Ashkenazi Jewish ancestry were all associated with an increased risk of detecting a BRCA1 mutation.	111	124	14	ovarian cancer	textual -  yields both UMLS codes.	[C1140680]  [C0029925]	Malignant neoplasm of ovary, Ovarian Carcinoma			
701	9145677	7	Among family members, an average age of less than 55 years at the diagnosis of breast cancer, the presence of ovarian cancer, the presence of breast and ovarian cancer in the same woman, and Ashkenazi Jewish ancestry were all associated with an increased risk of detecting a BRCA1 mutation.	143	167	25	breast and ovarian cancer	textual	[ C1862010 ]	BREAST-OVARIAN CANCER			
701	9145677	7	Among family members, an average age of less than 55 years at the diagnosis of breast cancer, the presence of ovarian cancer, the presence of breast and ovarian cancer in the same woman, and Ashkenazi Jewish ancestry were all associated with an increased risk of detecting a BRCA1 mutation.	154	167	14	ovarian cancer	textual -  yields both UMLS codes.	[C1140680]  [C0029925]	Malignant neoplasm of ovary, Ovarian Carcinoma			
702	9145677	8	No association was found between the presence of bilateral breast cancer or the number of breast cancers in a family and the detection of a BRCA1 mutation, or between the position of the mutation in the BRCA1 gene and the presence of ovarian cancer in a family.	50	72	23	bilateral breast cancer	textual	[ C0281267	bilateral breast cancer			
702	9145677	8	No association was found between the presence of bilateral breast cancer or the number of breast cancers in a family and the detection of a BRCA1 mutation, or between the position of the mutation in the BRCA1 gene and the presence of ovarian cancer in a family.	91	104	14	breast cancers	textual -  yields both UMLS codes.	[C0678222][C0006142]	Breast Carcinoma,  Malignant neoplasm of breast			
702	9145677	8	No association was found between the presence of bilateral breast cancer or the number of breast cancers in a family and the detection of a BRCA1 mutation, or between the position of the mutation in the BRCA1 gene and the presence of ovarian cancer in a family.	235	248	14	ovarian cancer	textual -  yields both UMLS codes.	[C1140680]  [C0029925]	Malignant neoplasm of ovary, Ovarian Carcinoma			
703	9174057	7	Mutations in the ARP gene are thus commonly observed in pancreatic cancer, as well as many other cancers..	57	73	17	pancreatic cancer	textual	[C0346647] [C0235974]	Malignant neoplasm of pancreas , Pancreatic carcinoma			
703	9174057	7	Mutations in the ARP gene are thus commonly observed in pancreatic cancer, as well as many other cancers..	92	104	13	other cancers	textual	[ C1707251 ]	Cancer Other			
704	9182899	4	The patient was shown to be heterozygous for DNA markers in the C6, C7 and C9 region of chromosome 5 and therefore appears to be a compound heterozygote for two uncharacterized C9 deficiency genes.	178	190	13	C9 deficiency	textual	[ C1852676 ]	C9 DEFICIENCY			
705	9182899	8	We also suggest that C9 deficiency may be more common among Caucasians than has been reported..	22	34	13	C9 deficiency	textual	[ C1852676 ]	C9 DEFICIENCY			
706	9195227	1	In the present study, leukocyte DNA from 143 patients with familial clustering of breast and/or ovarian cancer and tumour DNA from 96 breast carcinomas were screened for base mutations in the estrogen receptor gene ESR.	83	110	28	breast and/or ovarian cancer	intuitive: list is present. A search of "breast cancer" yields 2 UMLS codes	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
706	9195227	1	In the present study, leukocyte DNA from 143 patients with familial clustering of breast and/or ovarian cancer and tumour DNA from 96 breast carcinomas were screened for base mutations in the estrogen receptor gene ESR.	97	110	14	ovarian cancer	textual -  yields both UMLS codes.	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
706	9195227	1	In the present study, leukocyte DNA from 143 patients with familial clustering of breast and/or ovarian cancer and tumour DNA from 96 breast carcinomas were screened for base mutations in the estrogen receptor gene ESR.	135	151	17	breast carcinomas	textual - yields 3 UMLS codes, one is a general term the other 2 sex dependent	[C0678222][C0238033][C0007104]	Breast Carcinoma,Carcinoma of Male Breast,Female Breast Carcinoma			
707	9218625	1	The molecular basis of C7 deficiency has been investigated in two Irish families and a number of Israeli families of Moroccan Sephardic Jewish origin.	24	36	13	C7 deficiency	textual	[ C1864694 ]	COMPLEMENT COMPONENT 7 DEFICIENCY			
708	9222760	4	To study the molecular genetics of classical and Duarte galactosemia, we analyzed the GALT mutations in 30 families with classical galactosemia, in 10 families with the D-2 variant and in 3 individuals carrying the D-1 allele by denaturing gradient gel electrophoresis DGGE.	36	68	33	classical and Duarte galactosemia	intuitive: list is present. A query of "classical galactosemia" yields annotated UMLS code	[ C0268151 ]	Classical galactosemia			
708	9222760	4	To study the molecular genetics of classical and Duarte galactosemia, we analyzed the GALT mutations in 30 families with classical galactosemia, in 10 families with the D-2 variant and in 3 individuals carrying the D-1 allele by denaturing gradient gel electrophoresis DGGE.	50	68	19	Duarte galactosemia	There is no UMLS code for this variant.  According to the abstract Duarte galactosemia is a variant of Classical Galactosemia					
708	9222760	4	To study the molecular genetics of classical and Duarte galactosemia, we analyzed the GALT mutations in 30 families with classical galactosemia, in 10 families with the D-2 variant and in 3 individuals carrying the D-1 allele by denaturing gradient gel electrophoresis DGGE.	122	143	22	classical galactosemia	textual	[ C0268151 ]	Classical galactosemia			
709	9223307	1	A gene mutated in the human genetic disorder ataxia-telangiectasia (A-T), ATM, was recently identified by positional cloning.	69	71	3	A-T	textual - yields wrong UMLS code	[ C0004135 ]	Ataxia Telangiectasia			
709	9223307	1	A gene mutated in the human genetic disorder ataxia-telangiectasia (A-T), ATM, was recently identified by positional cloning.	46	66	21	ataxia-telangiectasia	textual	[ C0004135 ]	Ataxia Telangiectasia			
710	9223312	2	In the pediatric solid tumor alveolar rhabdomyosarcoma, a consistent t 2;13 (q35;q14) or variant t 1;13 (p36;q14) translocation generates PAX3-FKHR or PAX7-FKHR fusion proteins, respectively.	8	54	47	pediatric solid tumor alveolar rhabdomyosarcoma	intuitive: text is stating the alveolar rhabdomyosarcoma is occuring in children.  A query of "pediatric alveolar rhabdomyosarcoma" yields annotated UMLS code	[ C0279613 ]	alveolar childhood rhabdomyosarcoma			
710	9223312	2	In the pediatric solid tumor alveolar rhabdomyosarcoma, a consistent t 2;13 (q35;q14) or variant t 1;13 (p36;q14) translocation generates PAX3-FKHR or PAX7-FKHR fusion proteins, respectively.	8	28	21	pediatric solid tumor	textual	[ C0279068 ]	childhood solid tumor			
711	9223312	7	Thus, gene-specific mechanisms were selected to overexpress PAX3-FKHR and PAX7-FKHR in alveolar rhabdomyosarcoma, presumably due to differences in regulation between the wild-type loci.	0	0	0							
712	9241281	1	Mutations in atm and p53 cause the human cancer-associated diseases ataxia-telangiectasia and Li-Fraumeni syndrome, respectively.	42	47	6	cancer	textual - yields both annotated UMLS code, however, also yields 2 others	[C0006826]  [C1306459]	Malignant Neoplasms, Primary malignant neoplasm			
712	9241281	1	Mutations in atm and p53 cause the human cancer-associated diseases ataxia-telangiectasia and Li-Fraumeni syndrome, respectively.	69	89	21	ataxia-telangiectasia	textual	[ C0004135 ]	Ataxia Telangiectasia			
712	9241281	1	Mutations in atm and p53 cause the human cancer-associated diseases ataxia-telangiectasia and Li-Fraumeni syndrome, respectively.	95	114	20	Li-Fraumeni syndrome	textual	[ C0085390 ]	Li-Fraumeni Syndrome			
713	9241282	1	Myotonic dystrophy, or dystrophia myotonica (DM), is an autosomal dominant multisystem disorder caused by the expansion of a CTG trinucleotide repeat in the 3' untranslated region of the DMPK protein kinase gene on chromosome 19q13.3 refs 1-3.	46	47	2	DM	textual - yields correct UMLS code, however, also yields 8 others	[ C0027126 ]	Myotonic Dystrophy			
713	9241282	1	Myotonic dystrophy, or dystrophia myotonica (DM), is an autosomal dominant multisystem disorder caused by the expansion of a CTG trinucleotide repeat in the 3' untranslated region of the DMPK protein kinase gene on chromosome 19q13.3 refs 1-3.	1	18	18	Myotonic dystrophy	textual	[ C0027126 ]	Myotonic Dystrophy			
713	9241282	1	Myotonic dystrophy, or dystrophia myotonica (DM), is an autosomal dominant multisystem disorder caused by the expansion of a CTG trinucleotide repeat in the 3' untranslated region of the DMPK protein kinase gene on chromosome 19q13.3 refs 1-3.	24	43	20	dystrophia myotonica	textual	[ C0027126 ]	Myotonic Dystrophy			
713	9241282	1	Myotonic dystrophy, or dystrophia myotonica (DM), is an autosomal dominant multisystem disorder caused by the expansion of a CTG trinucleotide repeat in the 3' untranslated region of the DMPK protein kinase gene on chromosome 19q13.3 refs 1-3.	76	95	20	multisystem disorder	textual	[ C0559758 ]	Multisystem disorder			
714	9245987	1	A wide spectrum of mutations, ranging from point mutations to large deletions, have been described in the retinoblastoma gene RB1.	107	120	14	retinoblastoma	textual - yields correct UMLS code, however, also yields code for "RB1 Gene	[C0035335]	Retinoblastoma			
715	9271438	1	The von Hippel-Lindau tumor suppressor gene (VHL) has a critical role in the pathogenesis of clear-cell renal cell carcinoma (RCC), as VHL mutations have been found in both von Hippel-Lindau disease-associated and sporadic RCCs.	224	227	4	RCCs	textual - it appears from the abstract that they used the abbreviation "RCC" for "clear-cell renal cell carcinoma", however, a query of this text will only yield the UMLS code for "Renal Cell Carcinoma" along with 2 others					
715	9271438	1	The von Hippel-Lindau tumor suppressor gene (VHL) has a critical role in the pathogenesis of clear-cell renal cell carcinoma (RCC), as VHL mutations have been found in both von Hippel-Lindau disease-associated and sporadic RCCs.	94	124	31	clear-cell renal cell carcinoma	textual	[ C0279702 ]	Conventional (Clear Cell) Renal Cell Carcinoma			
715	9271438	1	The von Hippel-Lindau tumor suppressor gene (VHL) has a critical role in the pathogenesis of clear-cell renal cell carcinoma (RCC), as VHL mutations have been found in both von Hippel-Lindau disease-associated and sporadic RCCs.	174	198	25	von Hippel-Lindau disease	textual	[ C0019562 ]	Von Hippel-Lindau Syndrome			
716	9272171	1	We examined galactosylceramidase (GALC) cDNA in four Japanese patients with adult onset globoid cell leukodystrophy (Krabbe disease; AO-GLD) by polymerase chain reaction/single-strand conformation polymorphism (PCR-SSCP) analysis, subsequent sequence determination, and restriction enzyme digestion of PCR products, initial symptoms were the onset of slowly progressive spastic paraplegia from the middle of the second decade, and all patients had diminished GALC activity in their leukocytes.	137	139	3	GLD	textual	[ C0023521 ]	Globoid cell leukodystrophy			
716	9272171	1	We examined galactosylceramidase (GALC) cDNA in four Japanese patients with adult onset globoid cell leukodystrophy (Krabbe disease; AO-GLD) by polymerase chain reaction/single-strand conformation polymorphism (PCR-SSCP) analysis, subsequent sequence determination, and restriction enzyme digestion of PCR products, initial symptoms were the onset of slowly progressive spastic paraplegia from the middle of the second decade, and all patients had diminished GALC activity in their leukocytes.	89	115	27	globoid cell leukodystrophy	textual	[ C0023521 ]	Globoid cell leukodystrophy			
716	9272171	1	We examined galactosylceramidase (GALC) cDNA in four Japanese patients with adult onset globoid cell leukodystrophy (Krabbe disease; AO-GLD) by polymerase chain reaction/single-strand conformation polymorphism (PCR-SSCP) analysis, subsequent sequence determination, and restriction enzyme digestion of PCR products, initial symptoms were the onset of slowly progressive spastic paraplegia from the middle of the second decade, and all patients had diminished GALC activity in their leukocytes.	118	131	14	Krabbe disease	textual	[ C0023521 ]	Globoid cell leukodystrophy			
716	9272171	1	We examined galactosylceramidase (GALC) cDNA in four Japanese patients with adult onset globoid cell leukodystrophy (Krabbe disease; AO-GLD) by polymerase chain reaction/single-strand conformation polymorphism (PCR-SSCP) analysis, subsequent sequence determination, and restriction enzyme digestion of PCR products, initial symptoms were the onset of slowly progressive spastic paraplegia from the middle of the second decade, and all patients had diminished GALC activity in their leukocytes.	371	388	18	spastic paraplegia	textual	[ C0037772 ]	Spastic Paraplegia			
717	9288106	1	Ataxia-telangiectasia (A-T) is a recessive multi-system disorder caused by mutations in the ATM gene at 11q22-q23 ref. 3.	24	26	3	A-T	textual - yields wrong UMLS code	[ C0004135 ]	Ataxia Telangiectasia			
717	9288106	1	Ataxia-telangiectasia (A-T) is a recessive multi-system disorder caused by mutations in the ATM gene at 11q22-q23 ref. 3.	1	21	21	Ataxia-telangiectasia	textual	[ C0004135 ]	Ataxia Telangiectasia			
717	9288106	1	Ataxia-telangiectasia (A-T) is a recessive multi-system disorder caused by mutations in the ATM gene at 11q22-q23 ref. 3.	44	64	21	multi-system disorder	textual - however, the hyphen "-" must be removed in order to yield correct UMLS code	[ C0559758 ]	Multisystem disorder			
718	9294109	1	Myotonic dystrophy (DM), the most prevalent muscular disorder in adults, is caused by (CTG)n-repeat expansion in a gene encoding a protein kinase (DM protein kinase; DMPK) and involves changes in cytoarchitecture and ion homeostasis.	21	22	2	DM	textual - yields correct UMLS code, however, also yields 8 others	[ C0027126 ]	Myotonic Dystrophy			
718	9294109	1	Myotonic dystrophy (DM), the most prevalent muscular disorder in adults, is caused by (CTG)n-repeat expansion in a gene encoding a protein kinase (DM protein kinase; DMPK) and involves changes in cytoarchitecture and ion homeostasis.	1	18	18	Myotonic dystrophy	textual	[ C0027126 ]	Myotonic Dystrophy			
718	9294109	1	Myotonic dystrophy (DM), the most prevalent muscular disorder in adults, is caused by (CTG)n-repeat expansion in a gene encoding a protein kinase (DM protein kinase; DMPK) and involves changes in cytoarchitecture and ion homeostasis.	45	61	17	muscular disorder	textual	[ C0026848 ]	Myopathy			
719	9311732	1	In most patients with isolated unilateral retinoblastoma, tumor development is initiated by somatic inactivation of both alleles of the RB1 gene.	32	56	25	unilateral retinoblastoma	textual	[ C0854915 ]	Retinoblastoma unilateral			
720	9311732	3	To determine the frequency and nature of constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma, we analyzed DNA from peripheral blood and from tumor tissue.	102	126	25	unilateral retinoblastoma	textual	[ C0854915 ]	Retinoblastoma unilateral			
721	932197	7	C5 levels of other family members were either normal or approximately half-normal, consistent with autosomal codominant inheritance of the gene determining C5 deficiency.	157	169	13	C5 deficiency	textual	[ C1332657 ]	COMPLEMENT COMPONENT 5 DEFICIENCY			
722	9336417	1	OBJECTIVE: To determine the relative effects of genetic and environmental factors in susceptibility to ankylosing spondylitis AS.	127	128	2	AS	textual - does not yield annotated code	[ C0038013 ]	Ankylosing spondylitis			
722	9336417	1	OBJECTIVE: To determine the relative effects of genetic and environmental factors in susceptibility to ankylosing spondylitis AS.	104	125	22	ankylosing spondylitis	textual - yields annotated code, however, also yields UMLS code for "AS Gene	[ C0038013 ]	Ankylosing spondylitis			
723	9342365	1	Germ-line mutations of the BRCA1 gene predispose women to early-onset breast and ovarian cancer by compromising the gene's presumptive function as a tumor suppressor.	59	95	37	early-onset breast and ovarian cancer	intuitive - text is stating an early-onset of a disease. A query of "early-onset disease" yields annotated code	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
723	9342365	1	Germ-line mutations of the BRCA1 gene predispose women to early-onset breast and ovarian cancer by compromising the gene's presumptive function as a tumor suppressor.	59	95	37	early-onset breast and ovarian cancer	intuitive: list is present. A search of "breast cancer" yields 2 UMLS codes	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
724	9358014	1	Recent studies have shown that hereditary hemochromatosis (HH) is likely to be caused by homozygosity for a Cys282Tyr mutation in the HFE gene located 4.5 Mb telomeric to HLA-A.	60	61	2	HH	textual - does not yield annotated code	[ C0392514 ]	Hereditary hemochromatosis			
724	9358014	1	Recent studies have shown that hereditary hemochromatosis (HH) is likely to be caused by homozygosity for a Cys282Tyr mutation in the HFE gene located 4.5 Mb telomeric to HLA-A.	32	57	26	hereditary hemochromatosis	textual - yields annotated code, however, also yields code for "HFE Gene	[ C0392514 ]	Hereditary hemochromatosis			
725	9360520	1	Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) is an inherited disease caused by progressive degeneration of the magnocellular neurons of the hypothalamus leading to decreased ability to produce the hormone arginine vasopressin AVP.	20	54	35	neurohypophyseal diabetes insipidus	textual	[ C0687720 ]	Central Diabetes Insipidus			
726	9371490	4	A new tumor suppressor gene, PTEN/MMAC1, was isolated recently at this region of chromosome 10q23 and found to be inactivated by mutation in three prostate cancer cell lines.	148	162	15	prostate cancer	textual	[C0376358]  [C0600139]	Malignant neoplasm of prostate,  Prostate carcinoma			
727	9371490	7	The identification of the second mutational event in 10 (43%) tumors establishes PTEN/MMAC1 as a main inactivation target of 10q loss in sporadic prostate cancer..	147	161	15	prostate cancer	textual	[C0376358]  [C0600139]	Malignant neoplasm of prostate,  Prostate carcinoma			
728	9382108	1	The first predictive testing for Huntington disease (HD) was based on analysis of linked polymorphic DNA markers to estimate the likelihood of inheriting the mutation for HD.	54	55	2	HD	textual - yields correct UMLS code, however, also yields 4 others	[C0020179]	Huntington Disease			
728	9382108	1	The first predictive testing for Huntington disease (HD) was based on analysis of linked polymorphic DNA markers to estimate the likelihood of inheriting the mutation for HD.	172	173	2	HD	textual - yields correct UMLS code, however, also yields 4 others	[C0020179]	Huntington Disease			
728	9382108	1	The first predictive testing for Huntington disease (HD) was based on analysis of linked polymorphic DNA markers to estimate the likelihood of inheriting the mutation for HD.	34	51	18	Huntington disease	textual - yields correct UMLS code, however, also yields UMLS code for "HD gene	[C0020179]	Huntington Disease			
729	9385378	1	Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in N-acetylgalactosamine-6-sulfate sulfatase GALNS.	0	0	0	MPS IVA	textual - does not yield annotated UMLS code	[ C0026707 ]	Mucopolysaccharidosis IV			
729	9385378	1	Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in N-acetylgalactosamine-6-sulfate sulfatase GALNS.	0	0	0	Mucopolysaccharidosis IVA	textual	[ C0026707 ]	Mucopolysaccharidosis IV			
730	9391879	1	In this study we investigated 45 German breast/ovarian cancer families for germline mutations in the BRCA1 gene.	41	61	21	breast/ovarian cancer	intuitive: list is present. A search of "breast cancer" yields 2 UMLS codes	[C0678222][C0006142]	Breast Carcinoma,  Malignant neoplasm of breast			
730	9391879	1	In this study we investigated 45 German breast/ovarian cancer families for germline mutations in the BRCA1 gene.	48	61	14	ovarian cancer	textual -  yields both UMLS codes.	[C1140680]  [C0029925]	Malignant neoplasm of ovary, Ovarian Carcinoma			
731	9391879	6	These findings show that BRCA1 is implicated in a small fraction of breast/ovarian cancer families suggesting the involvement of another susceptibility gene s ..	69	89	21	breast/ovarian cancer	intuitive: list is present. A search of "breast cancer" yields 2 UMLS codes	[C0678222][C0006142]	Breast Carcinoma,  Malignant neoplasm of breast			
731	9391879	6	These findings show that BRCA1 is implicated in a small fraction of breast/ovarian cancer families suggesting the involvement of another susceptibility gene s ..	76	89	14	ovarian cancer	textual -  yields both UMLS codes.	[C1140680]  [C0029925]	Malignant neoplasm of ovary, Ovarian Carcinoma			
732	9391889	1	We report a rare case of paternally transmitted congenital myotonic dystrophy DM.	79	80	2	DM	intuitive: appears to only be an abbreviation for Myotonic Dystrophy.  A query of this text does yield the UMLS code for Myotonic Dystrophy, however, it also yields 8 others	[ C0027126 ]	Myotonic Dystrophy			
732	9391889	1	We report a rare case of paternally transmitted congenital myotonic dystrophy DM.	49	77	29	congenital myotonic dystrophy	textual	[ C0410226 ]	Myotonic Dystrophy, Congenital			
733	9400934	1	The RB1 gene mutation was investigated in a child with ectopic intracranial retinoblastoma using DNA obtained from both the pineal and retinal tumours of the patient.	77	90	14	retinoblastoma	textual - yields annotated code, however, also yields code for "RB1 gene	[C0035335]	Retinoblastoma			
733	9400934	1	The RB1 gene mutation was investigated in a child with ectopic intracranial retinoblastoma using DNA obtained from both the pineal and retinal tumours of the patient.	125	150	26	pineal and retinal tumours	intuitive: list is present. A query of "pineal tumours" yields annotated codes	[C0031941]  [C1412004]	Pineal Gland Neoplasm, Tumor of the Pineal Region			
733	9400934	1	The RB1 gene mutation was investigated in a child with ectopic intracranial retinoblastoma using DNA obtained from both the pineal and retinal tumours of the patient.	136	150	15	retinal tumours	textual	[ C0524801 ]	Retinal Neoplasms			
734	941901	1	Appreciable beta hexosaminidase A (hex A) activity has been detected in cultured skin fibroblasts and melanoma tissue from healthy individuals previously reported as having deficiency of hex A activity indistinguishable from that of patients with Tay-Sachs disease TSD.	266	268	3	TSD	textual	[ C0039373 ]	Tay-Sachs Disease			
734	941901	1	Appreciable beta hexosaminidase A (hex A) activity has been detected in cultured skin fibroblasts and melanoma tissue from healthy individuals previously reported as having deficiency of hex A activity indistinguishable from that of patients with Tay-Sachs disease TSD.	103	110	8	melanoma	textual - yields annotated code, however, also yields code for "Melanoma Vaccine	[ C0025202 ]	melanoma			
734	941901	1	Appreciable beta hexosaminidase A (hex A) activity has been detected in cultured skin fibroblasts and melanoma tissue from healthy individuals previously reported as having deficiency of hex A activity indistinguishable from that of patients with Tay-Sachs disease TSD.	174	192	19	deficiency of hex A	textual	[ C0039373 ]	Tay-Sachs Disease			
734	941901	1	Appreciable beta hexosaminidase A (hex A) activity has been detected in cultured skin fibroblasts and melanoma tissue from healthy individuals previously reported as having deficiency of hex A activity indistinguishable from that of patients with Tay-Sachs disease TSD.	248	264	17	Tay-Sachs disease	textual	[ C0039373 ]	Tay-Sachs Disease			
735	9420335	1	Mutations in the SMAD4/DPC4 tumor suppressor gene, a key signal transducer in most TGFbeta-related pathways, are involved in 50% of pancreatic cancers.	133	150	18	pancreatic cancers	textual	[C0346647]  [C0235974]	Malignant neoplasm of pancreas, Pancreatic carcinoma			
736	9425228	1	Germline mutations in the p16 and CDK4 genes have been reported in a subset of melanoma pedigrees, but their prevalence is not well known.	80	87	8	melanoma	textual - yields annotated code, however, also yields code for "Melanoma Vaccine	[ C0025202 ]	melanoma			
737	9425228	5	In summary, our results show frequent involvement of the p16 gene in familial melanoma and confirm the role of the CDK4 gene as a melanoma-predisposing gene..	70	86	17	familial melanoma	textual - yields annotated code, however, also yields code for "Cutaneous Melanoma	[C1512419]	Hereditary Melanoma			
738	9425239	1	The genetic basis of myotonic dystrophy (DM) is the expansion of an unstable CTG repeat in the 34 UTR of the DM protein kinase gene on chromosome 19.	42	43	2	DM	textual - yields correct UMLS code, however, also yields 8 others	[ C0027126 ]	Myotonic Dystrophy			
738	9425239	1	The genetic basis of myotonic dystrophy (DM) is the expansion of an unstable CTG repeat in the 34 UTR of the DM protein kinase gene on chromosome 19.	22	39	18	myotonic dystrophy	textual	[ C0027126 ]	Myotonic Dystrophy			
739	9425239	5	In order to further characterize the dynamics of DM CTG repeat somatic instability, we have studied repeat length changes over time in 111 myotonic dystrophy patients with varying clinical severity and CTG repeat size over time intervals of 1-7 years.	140	157	18	myotonic dystrophy	textual	[ C0027126 ]	Myotonic Dystrophy			
740	9427148	1	Aspartylglucosaminuria (AGU) is a rare disorder of glycoprotein metabolism caused by the deficiency of the lysosomal enzyme aspartylglucosaminidase AGA.	25	27	3	AGU	textual - does not yield annotated code, yields code for "AGA gene	[C0268225]	Aspartylglucosaminuria			
740	9427148	1	Aspartylglucosaminuria (AGU) is a rare disorder of glycoprotein metabolism caused by the deficiency of the lysosomal enzyme aspartylglucosaminidase AGA.	1	22	22	Aspartylglucosaminuria	textual - yields annotated code, however, aslo yields code for "AGA gene	[C0268225]	Aspartylglucosaminuria			
740	9427148	1	Aspartylglucosaminuria (AGU) is a rare disorder of glycoprotein metabolism caused by the deficiency of the lysosomal enzyme aspartylglucosaminidase AGA.	40	74	35	disorder of glycoprotein metabolism	textual	[ C0342844 ]	[X]Disorder of glycoprotein metabolism, unspecified			
740	9427148	1	Aspartylglucosaminuria (AGU) is a rare disorder of glycoprotein metabolism caused by the deficiency of the lysosomal enzyme aspartylglucosaminidase AGA.	90	147	58	deficiency of the lysosomal enzyme aspartylglucosaminidase	intuitive: text states a deficiency of aspartylglucosaminidase, a query of this text yields the annotated code, however, it also yields the UMLS code for "AGA gene	[C0268225]	Aspartylglucosaminuria			
741	9439660	1	In ataxia-telangiectasia (A-T) patients, mutations in a single gene, ATM, result in an autosomal recessive syndrome that embraces a variety of clinical features and manifests extreme radiosensitivity and a strong pre-disposition to malignancy.	27	29	3	A-T	textual - yields wrong UMLS code	[ C0004135 ]	Ataxia Telangiectasia			
741	9439660	1	In ataxia-telangiectasia (A-T) patients, mutations in a single gene, ATM, result in an autosomal recessive syndrome that embraces a variety of clinical features and manifests extreme radiosensitivity and a strong pre-disposition to malignancy.	4	24	21	ataxia-telangiectasia	textual	[ C0004135 ]	Ataxia Telangiectasia			
742	9443866	1	To facilitate the evaluation of ATM heterozygotes for susceptibility to other diseases, such as breast cancer, we have attempted to define the most common mutations and their frequencies in ataxia-telangiectasia (A-T) homozygotes from 10 ethnic populations.	214	216	3	A-T	textual - yields wrong UMLS code	[ C0004135 ]	Ataxia Telangiectasia			
742	9443866	1	To facilitate the evaluation of ATM heterozygotes for susceptibility to other diseases, such as breast cancer, we have attempted to define the most common mutations and their frequencies in ataxia-telangiectasia (A-T) homozygotes from 10 ethnic populations.	97	109	13	breast cancer	textual -  yields both UMLS codes.	[C0678222][C0006142]	Breast Carcinoma,  Malignant neoplasm of breast			
742	9443866	1	To facilitate the evaluation of ATM heterozygotes for susceptibility to other diseases, such as breast cancer, we have attempted to define the most common mutations and their frequencies in ataxia-telangiectasia (A-T) homozygotes from 10 ethnic populations.	191	211	21	ataxia-telangiectasia	textual	[ C0004135 ]	Ataxia Telangiectasia			
743	9448273	1	The inactivation of the von Hippel-Lindau (VHL) tumor suppressor gene predisposes affected individuals to the human VHL cancer syndrome and is associated with sporadic renal cell carcinomas (RCC) and brain hemangioblastomas.	44	46	3	VHL	textual - yields annotated code, however, also yields 2 others					
743	9448273	1	The inactivation of the von Hippel-Lindau (VHL) tumor suppressor gene predisposes affected individuals to the human VHL cancer syndrome and is associated with sporadic renal cell carcinomas (RCC) and brain hemangioblastomas.	117	135	19	VHL cancer syndrome	textual - could not find suitable umls code					
743	9448273	1	The inactivation of the von Hippel-Lindau (VHL) tumor suppressor gene predisposes affected individuals to the human VHL cancer syndrome and is associated with sporadic renal cell carcinomas (RCC) and brain hemangioblastomas.	192	194	3	RCC	textual - yields annotated code, however, also yields 2 others	[ C0007134 ]	Renal Cell Carcinoma			
743	9448273	1	The inactivation of the von Hippel-Lindau (VHL) tumor suppressor gene predisposes affected individuals to the human VHL cancer syndrome and is associated with sporadic renal cell carcinomas (RCC) and brain hemangioblastomas.	25	41	17	von Hippel-Lindau	textual	[ C0019562 ]	Von Hippel-Lindau Syndrome			
743	9448273	1	The inactivation of the von Hippel-Lindau (VHL) tumor suppressor gene predisposes affected individuals to the human VHL cancer syndrome and is associated with sporadic renal cell carcinomas (RCC) and brain hemangioblastomas.	169	189	21	renal cell carcinomas	textual	[ C0007134 ]	Renal Cell Carcinoma			
743	9448273	1	The inactivation of the von Hippel-Lindau (VHL) tumor suppressor gene predisposes affected individuals to the human VHL cancer syndrome and is associated with sporadic renal cell carcinomas (RCC) and brain hemangioblastomas.	207	223	17	hemangioblastomas	textual	[ C0206734 ]	hemangioblastoma			
744	9450866	1	In a South African girl of Xhosa stock with severe piebaldism and profound congenital sensorineural deafness we identified a novel missense substitution at a highly conserved residue in the intracellular kinase domain of the KIT proto-oncogene, R796G.	52	61	10	piebaldism	textual	[ C0080024 ]	Piebaldism			
744	9450866	1	In a South African girl of Xhosa stock with severe piebaldism and profound congenital sensorineural deafness we identified a novel missense substitution at a highly conserved residue in the intracellular kinase domain of the KIT proto-oncogene, R796G.	76	108	33	congenital sensorineural deafness	textual	[ C0339789 ]	Congenital deafness			
745	9450866	2	Though auditory anomalies have been observed in mice with dominant white spotting (W) due to KIT mutations, deafness is not typical in human piebaldism.	109	116	8	deafness	textual	[C0581883]  [C0011053]	Complete Hearing Loss, Deafness			
745	9450866	2	Though auditory anomalies have been observed in mice with dominant white spotting (W) due to KIT mutations, deafness is not typical in human piebaldism.	142	151	10	piebaldism	textual	[ C0080024 ]	Piebaldism			
746	9450866	3	Thus, the occurrence of sensorineural deafness in this patient extends considerably the phenotypic range of piebaldism due to KIT gene mutation in humans and tightens the clinical similarity between piebaldism and the various forms of Waardenburg syndrome..	25	46	22	sensorineural deafness	intuitive: the abstract states that this "sensorineural deafness" was "congenital", a query of "congenital sensorineural deafness" yields the annotated UMLS code	[ C0339789 ]	Congenital deafness			
746	9450866	3	Thus, the occurrence of sensorineural deafness in this patient extends considerably the phenotypic range of piebaldism due to KIT gene mutation in humans and tightens the clinical similarity between piebaldism and the various forms of Waardenburg syndrome..	109	118	10	piebaldism	textual	[ C0080024 ]	Piebaldism			
746	9450866	3	Thus, the occurrence of sensorineural deafness in this patient extends considerably the phenotypic range of piebaldism due to KIT gene mutation in humans and tightens the clinical similarity between piebaldism and the various forms of Waardenburg syndrome..	200	209	10	piebaldism	textual	[ C0080024 ]	Piebaldism			
746	9450866	3	Thus, the occurrence of sensorineural deafness in this patient extends considerably the phenotypic range of piebaldism due to KIT gene mutation in humans and tightens the clinical similarity between piebaldism and the various forms of Waardenburg syndrome..	236	255	20	Waardenburg syndrome	textual	[ C0043008 ]	Waardenburg`s Syndrome			
747	9457913	1	Patients with generalized atrophic benign epidermolysis bullosa often show decreased expression of type XVII collagen, a transmembrane hemidesmosomal protein encoded by COL17A1.	15	63	49	generalized atrophic benign epidermolysis bullosa	textual	[ C0014527 ]	Epidermolysis Bullosa			
748	9457913	2	This report documents a novel splice-site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis bullosa, and applies a new methodology to define and characterize the resulting mRNA splice variants.	81	129	49	generalized atrophic benign epidermolysis bullosa	textual	[ C0014527 ]	Epidermolysis Bullosa			
749	9457914	3	Recently, we reported five Austrian families with generalized atrophic benign epidermolysis bullosa who share the same COL17A1 mutation.	51	99	49	generalized atrophic benign epidermolysis bullosa	textual	[ C0014527 ]	Epidermolysis Bullosa			
750	9463309	3	Southern blot and PCR analyses have indicated that the individual with anhaptoglobinemia was homozygous for the gene deletion and that the gene deletion was included at least from the promoter region of Hp to Hpr alpha but not to Hpr beta Hpdel.	72	88	17	anhaptoglobinemia	textual - no UMLS code exists for this condition					
751	9463309	8	On the basis of the present study, the mechanism of anhaptoglobinemia and the mechanism of anomalous inheritance of Hp phenotypes were well explained.	53	69	17	anhaptoglobinemia	textual - no UMLS code exists for this condition					
752	9463314	1	We report the spectrum of 59 ATM mutations observed in ataxia-telangiectasia (A-T) patients in the British Isles.	79	81	3	A-T	textual - yields wrong UMLS code	[ C0004135 ]	Ataxia Telangiectasia			
752	9463314	1	We report the spectrum of 59 ATM mutations observed in ataxia-telangiectasia (A-T) patients in the British Isles.	56	76	21	ataxia-telangiectasia	textual	[ C0004135 ]	Ataxia Telangiectasia			
753	9463318	1	Using methylation-sensitive restriction enzymes, we characterized the methylation pattern on the 5' side of the CTG repeat in the DMPK gene of normal individuals and of patients affected with myotonic dystrophy, showing expansions of the repetitive sequence.	193	210	18	myotonic dystrophy	textual	[ C0027126 ]	Myotonic Dystrophy			
754	9465039	1	We recently reported the positional cloning of a candidate gene for hereditary hemochromatosis called HFE.	69	94	26	hereditary hemochromatosis	textual - yields annotated code, however, also yields code for "HFE Gene	[ C0392514 ]	Hereditary hemochromatosis			
755	9465039	12	These results establish a molecular link between HFE and a key protein involved in iron transport, the TfR, and raise the possibility that alterations in this regulatory mechanism may play a role in the pathogenesis of hereditary hemochromatosis..	220	245	26	hereditary hemochromatosis	textual - yields annotated code, however, also yields code for "HFE Gene	[ C0392514 ]	Hereditary hemochromatosis			
756	9465301	1	The UBE3A gene encodes the E6-AP ubiquitin-protein ligase and has recently been shown to be mutated in Angelman syndrome patients who lack 15q11-q13 deletions or chromosome 15 paternal uniparental disomy.	104	120	17	Angelman syndrome	textual	[ C0162635 ]	Angelman Syndrome			
756	9465301	1	The UBE3A gene encodes the E6-AP ubiquitin-protein ligase and has recently been shown to be mutated in Angelman syndrome patients who lack 15q11-q13 deletions or chromosome 15 paternal uniparental disomy.	186	203	18	uniparental disomy	textual	[ C0949628 ]	Uniparental Disomy			
757	9467011	2	Somatic PTEN deletions and mutations were observed in sporadic breast, brain, prostate and kidney cancer cell lines and in several primary tumours such as endometrial carcinomas, malignant melanoma and thyroid tumours.	64	104	41	breast, brain, prostate and kidney cancer	intuitive: list is present.  A query of "breast cancer" yields annotated codes	[C0678222][C0006142]	Breast Carcinoma,  Malignant neoplasm of breast			
757	9467011	2	Somatic PTEN deletions and mutations were observed in sporadic breast, brain, prostate and kidney cancer cell lines and in several primary tumours such as endometrial carcinomas, malignant melanoma and thyroid tumours.	72	104	33	brain, prostate and kidney cancer	intuitive: list is present.  A query of "brain cancer" yields annotated codes	[ C0153633 ]	Malignant neoplasm of brain			
757	9467011	2	Somatic PTEN deletions and mutations were observed in sporadic breast, brain, prostate and kidney cancer cell lines and in several primary tumours such as endometrial carcinomas, malignant melanoma and thyroid tumours.	79	104	26	prostate and kidney cancer	intuitive: list is present.  A query of "prostate cancer" yields annotated codes	[C0376358]  [C0600139]	Malignant neoplasm of prostate,  Prostate carcinoma			
757	9467011	2	Somatic PTEN deletions and mutations were observed in sporadic breast, brain, prostate and kidney cancer cell lines and in several primary tumours such as endometrial carcinomas, malignant melanoma and thyroid tumours.	92	104	13	kidney cancer	textual	[C0740457]   [C1378703]	Malignant neoplasm of kidney, Renal carcinoma			
757	9467011	2	Somatic PTEN deletions and mutations were observed in sporadic breast, brain, prostate and kidney cancer cell lines and in several primary tumours such as endometrial carcinomas, malignant melanoma and thyroid tumours.	132	146	15	primary tumours	textual	[ C0677930 ]	Primary Neoplasm			
757	9467011	2	Somatic PTEN deletions and mutations were observed in sporadic breast, brain, prostate and kidney cancer cell lines and in several primary tumours such as endometrial carcinomas, malignant melanoma and thyroid tumours.	156	177	22	endometrial carcinomas	textual	[ C0476089 ]	Endometrial Carcinoma			
757	9467011	2	Somatic PTEN deletions and mutations were observed in sporadic breast, brain, prostate and kidney cancer cell lines and in several primary tumours such as endometrial carcinomas, malignant melanoma and thyroid tumours.	180	197	18	malignant melanoma	textual	[C0151779]   [C0025202]	Cutaneous Melanoma, melanoma			
757	9467011	2	Somatic PTEN deletions and mutations were observed in sporadic breast, brain, prostate and kidney cancer cell lines and in several primary tumours such as endometrial carcinomas, malignant melanoma and thyroid tumours.	203	217	15	thyroid tumours	textual	[ C0040136 ]	thyroid neoplasm			
758	9472666	1	Complement component C6 deficiency (C6D) was diagnosed in a 16-year-old African-American male with meningococcal meningitis.	37	39	3	C6D	textual - yields no UMLS code	[ C0398767 ]	Complement 6 deficiency			
758	9472666	1	Complement component C6 deficiency (C6D) was diagnosed in a 16-year-old African-American male with meningococcal meningitis.	1	34	34	Complement component C6 deficiency	intuitive: I believe "C6" is the abbreviation for "Complement 6", a search for "Complement 6 Deficiency" yields annotated UMLS code	[ C0398767 ]	Complement 6 deficiency			
758	9472666	1	Complement component C6 deficiency (C6D) was diagnosed in a 16-year-old African-American male with meningococcal meningitis.	100	123	24	meningococcal meningitis	textual	[ C0025294 ]	Meningococcal meningitis			
759	9482572	1	Mutations in PAX6 are responsible for human aniridia and have also been found in patients with Peter's anomaly, with congenital cataracts, with autosomal dominant keratitis, and with isolated foveal hypoplasia.	45	52	8	aniridia	textual	[ C0003076 ]	Aniridia			
759	9482572	1	Mutations in PAX6 are responsible for human aniridia and have also been found in patients with Peter's anomaly, with congenital cataracts, with autosomal dominant keratitis, and with isolated foveal hypoplasia.	96	110	15	Peter's anomaly	textual	[ C0344559 ]	Irido-corneo-trabecular dysgenesis			
759	9482572	1	Mutations in PAX6 are responsible for human aniridia and have also been found in patients with Peter's anomaly, with congenital cataracts, with autosomal dominant keratitis, and with isolated foveal hypoplasia.	118	137	20	congenital cataracts	textual - yields annotated UMLS code, however, also yields code for "CCAT Gene	[C0009691]	Congenital cataract			
759	9482572	1	Mutations in PAX6 are responsible for human aniridia and have also been found in patients with Peter's anomaly, with congenital cataracts, with autosomal dominant keratitis, and with isolated foveal hypoplasia.	164	172	9	keratitis	textual	[ C0022568 ]	Keratitis			
759	9482572	1	Mutations in PAX6 are responsible for human aniridia and have also been found in patients with Peter's anomaly, with congenital cataracts, with autosomal dominant keratitis, and with isolated foveal hypoplasia.	184	209	26	isolated foveal hypoplasia	textual	[ C1850993 ]	FOVEAL HYPOPLASIA, ISOLATED			
760	9482572	2	No locus other than chromosome 11p13 has been implicated in aniridia, and PAX6 is clearly the major, if not only, gene responsible.	61	68	8	aniridia	textual	[ C0003076 ]	Aniridia			
761	9497246	4	The majority (81%) of the breast-ovarian cancer families were due to BRCA1, with most others (14%) due to BRCA2.	27	47	21	breast-ovarian cancer	intuitive: list is present. A search of "breast cancer" yields 2 UMLS codes	[C0678222][C0006142]	Breast Carcinoma,  Malignant neoplasm of breast			
761	9497246	4	The majority (81%) of the breast-ovarian cancer families were due to BRCA1, with most others (14%) due to BRCA2.	34	47	14	ovarian cancer	textual -  yields both UMLS codes.	[C1140680]  [C0029925]	Malignant neoplasm of ovary, Ovarian Carcinoma			
762	9506545	1	We compared horizontal eye movements (visually guided saccades, antisaccades, and smooth pursuit) in control subjects (n = 14) and patients with three forms of autosomal dominant cerebellar ataxias type I: spinocerebellar ataxias 1 and 2 (SCA1, n = 11; SCA2, n = 10) and SCA3/Machado-Joseph disease (MJD) n = 16.	240	243	4	SCA1	textual	[ C0752120 ]	Spinocerebellar Ataxia Type 1			
762	9506545	1	We compared horizontal eye movements (visually guided saccades, antisaccades, and smooth pursuit) in control subjects (n = 14) and patients with three forms of autosomal dominant cerebellar ataxias type I: spinocerebellar ataxias 1 and 2 (SCA1, n = 11; SCA2, n = 10) and SCA3/Machado-Joseph disease (MJD) n = 16.	254	257	4	SCA2	textual	[C0752121]	Spinocerebellar Ataxia Type 2			
762	9506545	1	We compared horizontal eye movements (visually guided saccades, antisaccades, and smooth pursuit) in control subjects (n = 14) and patients with three forms of autosomal dominant cerebellar ataxias type I: spinocerebellar ataxias 1 and 2 (SCA1, n = 11; SCA2, n = 10) and SCA3/Machado-Joseph disease (MJD) n = 16.	272	275	4	SCA3	intuitive: This was the abbreviation for  spinocerebellar ataxias 3, even though it wasn't explicitly defined	[ C0024408 ]	Machado-Joseph Disease			
762	9506545	1	We compared horizontal eye movements (visually guided saccades, antisaccades, and smooth pursuit) in control subjects (n = 14) and patients with three forms of autosomal dominant cerebellar ataxias type I: spinocerebellar ataxias 1 and 2 (SCA1, n = 11; SCA2, n = 10) and SCA3/Machado-Joseph disease (MJD) n = 16.	301	303	3	MJD	textual	[ C0024408 ]	Machado-Joseph Disease			
762	9506545	1	We compared horizontal eye movements (visually guided saccades, antisaccades, and smooth pursuit) in control subjects (n = 14) and patients with three forms of autosomal dominant cerebellar ataxias type I: spinocerebellar ataxias 1 and 2 (SCA1, n = 11; SCA2, n = 10) and SCA3/Machado-Joseph disease (MJD) n = 16.	161	204	44	autosomal dominant cerebellar ataxias type I	textual - could not find more specific UMLS code	[ C0007758 ]	Cerebellar Ataxia			
762	9506545	1	We compared horizontal eye movements (visually guided saccades, antisaccades, and smooth pursuit) in control subjects (n = 14) and patients with three forms of autosomal dominant cerebellar ataxias type I: spinocerebellar ataxias 1 and 2 (SCA1, n = 11; SCA2, n = 10) and SCA3/Machado-Joseph disease (MJD) n = 16.	207	237	31	spinocerebellar ataxias 1 and 2	intuitive: list is present. a query for " spinocerebellar ataxias 2" yields annotated code	[ C0752121 ]	Spinocerebellar Ataxia Type 2			
762	9506545	1	We compared horizontal eye movements (visually guided saccades, antisaccades, and smooth pursuit) in control subjects (n = 14) and patients with three forms of autosomal dominant cerebellar ataxias type I: spinocerebellar ataxias 1 and 2 (SCA1, n = 11; SCA2, n = 10) and SCA3/Machado-Joseph disease (MJD) n = 16.	207	231	25	spinocerebellar ataxias 1	textual	[ C0752120 ]	Spinocerebellar Ataxia Type 1			
762	9506545	1	We compared horizontal eye movements (visually guided saccades, antisaccades, and smooth pursuit) in control subjects (n = 14) and patients with three forms of autosomal dominant cerebellar ataxias type I: spinocerebellar ataxias 1 and 2 (SCA1, n = 11; SCA2, n = 10) and SCA3/Machado-Joseph disease (MJD) n = 16.	277	298	22	Machado-Joseph disease	textual	[ C0024408 ]	Machado-Joseph Disease			
763	9521325	2	In approximately 5-12% of these cases, there are no demonstrable cardiac or non-cardiac causes to account for the episode, which is therefore classified as idiopathic ventricular fibrillation IVF.	193	195	3	IVF	textual - yields wrong UMLS code	[ C0340493 ]	Paroxysmal familial ventricular fibrillation			
763	9521325	2	In approximately 5-12% of these cases, there are no demonstrable cardiac or non-cardiac causes to account for the episode, which is therefore classified as idiopathic ventricular fibrillation IVF.	157	191	35	idiopathic ventricular fibrillation	textual	[ C0340493 ]	Paroxysmal familial ventricular fibrillation			
764	9521421	1	Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in N-acetylgalactosamine-6-sulfate sulfatase GALNS.	0	0	0	MPS IVA	textual - yields no UMLS code	[ C0026707 ]	Mucopolysaccharidosis IV			
764	9521421	1	Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in N-acetylgalactosamine-6-sulfate sulfatase GALNS.	0	0	0	Mucopolysaccharidosis IVA	textual	[ C0026707 ]	Mucopolysaccharidosis IV			
764	9521421	1	Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in N-acetylgalactosamine-6-sulfate sulfatase GALNS.	63	88	26	lysosomal storage disorder	textual	[ C0085078 ]	Lysosomal Storage Diseases			
765	9529364	1	Constitutional mutations of the WT1 gene, encoding a zinc-finger transcription factor involved in renal and gonadal development, are found in most patients with Denys-Drash syndrome (DDS), or diffuse mesangial sclerosis (DMS) associated with pseudohermaphroditism and/or Wilms tumor WT.	184	186	3	DDS	textual - yields wrong UMLS codes	[ C0950121 ]	Denys-Drash Syndrome			
765	9529364	1	Constitutional mutations of the WT1 gene, encoding a zinc-finger transcription factor involved in renal and gonadal development, are found in most patients with Denys-Drash syndrome (DDS), or diffuse mesangial sclerosis (DMS) associated with pseudohermaphroditism and/or Wilms tumor WT.	222	224	3	DMS	textual - yields correct UMLS code, however, also yields 8 others	[ C0268747 ]	Diffuse mesangial sclerosis			
765	9529364	1	Constitutional mutations of the WT1 gene, encoding a zinc-finger transcription factor involved in renal and gonadal development, are found in most patients with Denys-Drash syndrome (DDS), or diffuse mesangial sclerosis (DMS) associated with pseudohermaphroditism and/or Wilms tumor WT.	284	285	2	WT	textual - yields Wrong UMLS codes	[ C0027708 ]	Nephroblastoma			
765	9529364	1	Constitutional mutations of the WT1 gene, encoding a zinc-finger transcription factor involved in renal and gonadal development, are found in most patients with Denys-Drash syndrome (DDS), or diffuse mesangial sclerosis (DMS) associated with pseudohermaphroditism and/or Wilms tumor WT.	162	181	20	Denys-Drash syndrome	textual	[ C0950121 ]	Denys-Drash Syndrome			
765	9529364	1	Constitutional mutations of the WT1 gene, encoding a zinc-finger transcription factor involved in renal and gonadal development, are found in most patients with Denys-Drash syndrome (DDS), or diffuse mesangial sclerosis (DMS) associated with pseudohermaphroditism and/or Wilms tumor WT.	193	219	27	diffuse mesangial sclerosis	textual	[ C0268747 ]	Diffuse mesangial sclerosis			
765	9529364	1	Constitutional mutations of the WT1 gene, encoding a zinc-finger transcription factor involved in renal and gonadal development, are found in most patients with Denys-Drash syndrome (DDS), or diffuse mesangial sclerosis (DMS) associated with pseudohermaphroditism and/or Wilms tumor WT.	243	263	21	pseudohermaphroditism	textual	[ C0033804 ]	Pseudohermaphroditism			
765	9529364	1	Constitutional mutations of the WT1 gene, encoding a zinc-finger transcription factor involved in renal and gonadal development, are found in most patients with Denys-Drash syndrome (DDS), or diffuse mesangial sclerosis (DMS) associated with pseudohermaphroditism and/or Wilms tumor WT.	272	282	11	Wilms tumor	textual	[ C0027708 ]	Nephroblastoma			
766	9536083	1	The 185delAG mutation in BRCA1 is detected in Ashkenazi Jews both in familial breast and ovarian cancer and in the general population.	70	103	34	familial breast and ovarian cancer	intuitive: text means the same thing as "hereditary breast/ovarian cancer" which yields a unique UMLS code	T0000029 -C0238033, C0007104,C0006142,C0678222	Malignant Breast Neoplasm,Female Breast Carcinoma  - Malignant Breast Neoplasm,Malignant neoplasm of breast	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776, Familial cancer of breast C0346153, C0677776 -hereditary breast and ovarian cancer syndrome		
766	9536083	1	The 185delAG mutation in BRCA1 is detected in Ashkenazi Jews both in familial breast and ovarian cancer and in the general population.	70	103	34	familial breast and ovarian cancer	intuitive: text means the same thing as "hereditary breast/ovarian cancer" which yields a unique UMLS code	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
767	9536083	7	BRCA1 allelic patterns were determined for four of these individuals and for 12 additional non-Ashkenazi 185delAG mutation carriers who had breast/ovarian cancer.	141	161	21	breast/ovarian cancer	intuitive: list is present. A search of "breast cancer" yields 2 UMLS codes	[C0678222][C0006142]	Breast Carcinoma,  Malignant neoplasm of breast			
767	9536083	7	BRCA1 allelic patterns were determined for four of these individuals and for 12 additional non-Ashkenazi 185delAG mutation carriers who had breast/ovarian cancer.	148	161	14	ovarian cancer	textual -  yields both UMLS codes.	[C1140680]  [C0029925]	Malignant neoplasm of ovary, Ovarian Carcinoma			
768	9546397	1	HFE is an MHC-related protein that is mutated in the iron-overload disease hereditary hemochromatosis.	76	101	26	hereditary hemochromatosis	textual - yields annotated code, however, also yields code for "HFE Gene	[ C0392514 ]	Hereditary hemochromatosis			
769	9546397	3	The 2.6 A crystal structure of HFE reveals the locations of hemochromatosis mutations and a patch of histidines that could be involved in pH-dependent interactions.	61	75	15	hemochromatosis	intuitive: From reading the abstract the hemochromatosis being mentioned here is the hereditary variety.  A query of "hereditary hemochromatosis" yields annotated code, however, also yields code for "HFE Gene	[ C0392514 ]	Hereditary hemochromatosis			
770	9554743	4	Since a mutation at cDNA nucleotide 2302 (2302insC) had been previously described, this region of the ATP7B gene may be susceptible to gene rearrangements causing Wilson disease..	164	177	14	Wilson disease	textual	[ C0019202 ]	Hepatolenticular Degeneration			
771	9563950	1	Myotonic dystrophy (DM) is caused by a CTG expansion in the 3' untranslated region of the DM gene.	21	22	2	DM	textual - yields correct UMLS code, however, also yields 8 others	[ C0027126 ]	Myotonic Dystrophy			
771	9563950	1	Myotonic dystrophy (DM) is caused by a CTG expansion in the 3' untranslated region of the DM gene.	1	18	18	Myotonic dystrophy	textual	[ C0027126 ]	Myotonic Dystrophy			
772	9580132	1	Familial neurohypophyseal diabetes insipidus (FNDI) is an autosomal dominant disease caused by deficiency in the antidiuretic hormone arginine vasopressin (AVP) encoded by the AVP-neurophysin II (AVP-NPII) gene on chromosome 20p13.	1	44	44	Familial neurohypophyseal diabetes insipidus	textual - could not find more specific UMLS code	[ C0687720 ]	Central Diabetes Insipidus			
772	9580132	1	Familial neurohypophyseal diabetes insipidus (FNDI) is an autosomal dominant disease caused by deficiency in the antidiuretic hormone arginine vasopressin (AVP) encoded by the AVP-neurophysin II (AVP-NPII) gene on chromosome 20p13.	47	50	4	FNDI	textual - could not find more specific UMLS code	[ C0687720 ]	Central Diabetes Insipidus			
772	9580132	1	Familial neurohypophyseal diabetes insipidus (FNDI) is an autosomal dominant disease caused by deficiency in the antidiuretic hormone arginine vasopressin (AVP) encoded by the AVP-neurophysin II (AVP-NPII) gene on chromosome 20p13.	59	84	26	autosomal dominant disease	textual	C0265385	Autosomal dominant hereditary disorder			
772	9580132	1	Familial neurohypophyseal diabetes insipidus (FNDI) is an autosomal dominant disease caused by deficiency in the antidiuretic hormone arginine vasopressin (AVP) encoded by the AVP-neurophysin II (AVP-NPII) gene on chromosome 20p13.	96	154	59	deficiency in the antidiuretic hormone arginine vasopressin	textual	C0149676	Enzyme Deficiency			
773	9585583	1	Thirty-two unrelated patients with features of Saethre-Chotzen syndrome, a common autosomal dominant condition of craniosynostosis and limb anomalies, were screened for mutations in TWIST, FGFR2, and FGFR3.	48	71	24	Saethre-Chotzen syndrome	textual	[ C0175699 ]	Saethre-Chotzen Syndrome			
773	9585583	1	Thirty-two unrelated patients with features of Saethre-Chotzen syndrome, a common autosomal dominant condition of craniosynostosis and limb anomalies, were screened for mutations in TWIST, FGFR2, and FGFR3.	115	130	16	craniosynostosis	textual - yields annotated code, however, also yields 1 other	[C0010278]	Craniosynostosis			
773	9585583	1	Thirty-two unrelated patients with features of Saethre-Chotzen syndrome, a common autosomal dominant condition of craniosynostosis and limb anomalies, were screened for mutations in TWIST, FGFR2, and FGFR3.	136	149	14	limb anomalies	textual	[ C1387925 ]	anomaly; limb			
773	9585583	1	Thirty-two unrelated patients with features of Saethre-Chotzen syndrome, a common autosomal dominant condition of craniosynostosis and limb anomalies, were screened for mutations in TWIST, FGFR2, and FGFR3.	83	110	28	autosomal dominant condition	textual	C0265385	Autosomal dominant hereditary disorder			
774	9585605	1	Angelman syndrome (AS) is caused by chromosome 15q11-q13 deletions of maternal origin, by paternal uniparental disomy (UPD) 15, by imprinting defects, and by mutations in the UBE3A gene.	20	21	2	AS	textual - yields correct UMLS code, however, also yields 11 others	[ C0162635 ]	Angelman Syndrome			
774	9585605	1	Angelman syndrome (AS) is caused by chromosome 15q11-q13 deletions of maternal origin, by paternal uniparental disomy (UPD) 15, by imprinting defects, and by mutations in the UBE3A gene.	120	122	3	UPD	textual - yields no UMLS code	[ C0949628 ]	Uniparental Disomy			
774	9585605	1	Angelman syndrome (AS) is caused by chromosome 15q11-q13 deletions of maternal origin, by paternal uniparental disomy (UPD) 15, by imprinting defects, and by mutations in the UBE3A gene.	1	17	17	Angelman syndrome	textual	[ C0162635 ]	Angelman Syndrome			
774	9585605	1	Angelman syndrome (AS) is caused by chromosome 15q11-q13 deletions of maternal origin, by paternal uniparental disomy (UPD) 15, by imprinting defects, and by mutations in the UBE3A gene.	100	117	18	uniparental disomy	textual	[ C0949628 ]	Uniparental Disomy			
775	9585606	2	The hemochromatosis gene, HFE, recently has been identified, and characterization of this gene has shown that it contains two mutations that result in amino acid substitutions-cDNA nucleotides 845 G--A (C282Y) and 187 C--G H63D.	5	19	15	hemochromatosis	textual - yields correct UMLS code, however, also yields code for "HFE Gene	[C0018995]	Hemochromatosis			
776	9585611	1	Germ-line mutations of the tumor suppressor APC are implicated in attenuated adenomatous polyposis coli (AAPC), a variant of familial adenomatous polyposis FAP.	106	109	4	AAPC	textual	[ C1868019 ]	ADENOMATOUS POLYPOSIS COLI, ATTENUATED			
776	9585611	1	Germ-line mutations of the tumor suppressor APC are implicated in attenuated adenomatous polyposis coli (AAPC), a variant of familial adenomatous polyposis FAP.	157	159	3	FAP	textual - yields correct UMLS code, however, also yields 6 others	[C0032580]	Adenomatous Polyposis Coli			
776	9585611	1	Germ-line mutations of the tumor suppressor APC are implicated in attenuated adenomatous polyposis coli (AAPC), a variant of familial adenomatous polyposis FAP.	67	103	37	attenuated adenomatous polyposis coli	textual	[ C1868019 ]	ADENOMATOUS POLYPOSIS COLI, ATTENUATED			
776	9585611	1	Germ-line mutations of the tumor suppressor APC are implicated in attenuated adenomatous polyposis coli (AAPC), a variant of familial adenomatous polyposis FAP.	78	98	21	adenomatous polyposis	textual	[C0032580]	Adenomatous Polyposis Coli			
776	9585611	1	Germ-line mutations of the tumor suppressor APC are implicated in attenuated adenomatous polyposis coli (AAPC), a variant of familial adenomatous polyposis FAP.	135	155	21	adenomatous polyposis	textual	[C0032580]	Adenomatous Polyposis Coli			
777	9590178	4	In contrast, WT1 missense mutations, associated with male pseudohermaphroditism in Denys-Drash syndrome, fail to synergize with SF-1.	59	79	21	pseudohermaphroditism	textual	[ C0033804 ]	Pseudohermaphroditism			
777	9590178	4	In contrast, WT1 missense mutations, associated with male pseudohermaphroditism in Denys-Drash syndrome, fail to synergize with SF-1.	84	103	20	Denys-Drash syndrome	textual	[ C0950121 ]	Denys-Drash Syndrome			
778	9590284	2	Deletion of this IC abolishes local paternally derived gene expression and results in Prader-Willi syndrome PWS.	109	111	3	PWS	textual	[ C0032897 ]	Prader-Willi Syndrome			
778	9590284	2	Deletion of this IC abolishes local paternally derived gene expression and results in Prader-Willi syndrome PWS.	87	107	21	Prader-Willi syndrome	textual	[ C0032897 ]	Prader-Willi Syndrome			
779	9600235	1	The ATM (A-T, mutated) gene on human chromosome 11q22.3 has recently been identified as the gene responsible for the human recessive disease ataxia-telangiectasia A-T.	164	166	3	A-T	textual - yields wrong UMLS code	[ C0004135 ]	Ataxia Telangiectasia			
779	9600235	1	The ATM (A-T, mutated) gene on human chromosome 11q22.3 has recently been identified as the gene responsible for the human recessive disease ataxia-telangiectasia A-T.	142	162	21	ataxia-telangiectasia	textual	[ C0004135 ]	Ataxia Telangiectasia			
780	9603435	1	Mutations in the HEXA gene, encoding the alpha-subunit of beta-hexosaminidase A (Hex A), that abolish Hex A enzyme activity cause Tay-Sachs disease (TSD), the fatal infantile form of G(M2) gangliosidosis, Type 1.	150	152	3	TSD	textual	[ C0039373 ] Tay-Sachs Disease	Tay-Sachs Disease			
780	9603435	1	Mutations in the HEXA gene, encoding the alpha-subunit of beta-hexosaminidase A (Hex A), that abolish Hex A enzyme activity cause Tay-Sachs disease (TSD), the fatal infantile form of G(M2) gangliosidosis, Type 1.	131	147	17	Tay-Sachs disease	textual	[ C0039373 ]	Tay-Sachs Disease			
780	9603435	1	Mutations in the HEXA gene, encoding the alpha-subunit of beta-hexosaminidase A (Hex A), that abolish Hex A enzyme activity cause Tay-Sachs disease (TSD), the fatal infantile form of G(M2) gangliosidosis, Type 1.	190	203	14	gangliosidosis	textual	[ C0017083 ]	Gangliosidoses			
781	9618166	9	The identification of two frequent PDS mutations will facilitate the molecular diagnosis of Pendred syndrome..	93	108	16	Pendred syndrome	textual	[ C0271829 ]	Pendred`s syndrome			
782	9618170	2	To date, several mutations in the Duchenne muscular dystrophy gene, DMD , have been identified in patients with XLDCM, but a pathogenic correlation of these cardiospecific mutations in DMD with the XLDCM phenotype has remained to be elucidated.	113	117	5	XLDCM	intuitive: abstract defines this abbreviation as "X-linked dilated cardiomyopathy" a query of this text yields the "Duchenne muscular dystrophy" UMLS code.  A query of this abbreviation yields no UMLS code	[ C0013264 ]	Muscular Dystrophy, Duchenne			
782	9618170	2	To date, several mutations in the Duchenne muscular dystrophy gene, DMD , have been identified in patients with XLDCM, but a pathogenic correlation of these cardiospecific mutations in DMD with the XLDCM phenotype has remained to be elucidated.	199	203	5	XLDCM	intuitive: abstract defines this abbreviation as "X-linked dilated cardiomyopathy" a query of this text yields the "Duchenne muscular dystrophy" UMLS code.  A query of this abbreviation yields no UMLS code	[ C0013264 ]	Muscular Dystrophy, Duchenne			
782	9618170	2	To date, several mutations in the Duchenne muscular dystrophy gene, DMD , have been identified in patients with XLDCM, but a pathogenic correlation of these cardiospecific mutations in DMD with the XLDCM phenotype has remained to be elucidated.	35	61	27	Duchenne muscular dystrophy	textual	[ C0013264 ]	Muscular Dystrophy, Duchenne			
783	9620771	2	While a few cases of isolated ACTH deficiency have been reported (OMIM 201400), an inherited POMC defect has not been described so far.	31	45	15	ACTH deficiency	textual - yields annotated code, also yields 2 other codes that appear to be similar	[ C0342388 ]	Adrenocorticotropic hormone (ACTH) deficiency (disorder)			
784	9620771	3	Recent studies in animal models elucidated a central role of alpha-MSH in the regulation of food intake by activation of the brain melanocortin-4-receptor (MC4-R; refs 3-5) and the linkage of human obesity to chromosome 2 in close proximity to the POMC locus, led to the proposal of an association of POMC with human obesity.The dual role of alpha-MSH in regulating food intake and influencing hair pigmentation predicts that the phenotype associated with a defect in POMC function would include obesity, alteration in pigmentation and ACTH deficiency.	199	205	7	obesity	textual - yields annotated code, also yields UMLS code for "Obesity Adverse Event	[C0028754]	Obesity			
784	9620771	3	Recent studies in animal models elucidated a central role of alpha-MSH in the regulation of food intake by activation of the brain melanocortin-4-receptor (MC4-R; refs 3-5) and the linkage of human obesity to chromosome 2 in close proximity to the POMC locus, led to the proposal of an association of POMC with human obesity.The dual role of alpha-MSH in regulating food intake and influencing hair pigmentation predicts that the phenotype associated with a defect in POMC function would include obesity, alteration in pigmentation and ACTH deficiency.	318	324	7	obesity	textual - yields annotated code, also yields UMLS code for "Obesity Adverse Event	[C0028754]	Obesity			
784	9620771	3	Recent studies in animal models elucidated a central role of alpha-MSH in the regulation of food intake by activation of the brain melanocortin-4-receptor (MC4-R; refs 3-5) and the linkage of human obesity to chromosome 2 in close proximity to the POMC locus, led to the proposal of an association of POMC with human obesity.The dual role of alpha-MSH in regulating food intake and influencing hair pigmentation predicts that the phenotype associated with a defect in POMC function would include obesity, alteration in pigmentation and ACTH deficiency.	537	551	15	ACTH deficiency	textual - yields annotated code, also yields 2 other codes that appear to be similar	[ C0342388 ]	Adrenocorticotropic hormone (ACTH) deficiency (disorder)			
785	9634518	1	Phenylketonuria (PKU) and mild hyperphenylalaninemia (MHP) are allelic disorders caused by mutations in the gene encoding phenylalanine hydroxylase PAH.	18	20	3	PKU	textual - yields annotated code, also yields code for "Classical Phenylketonuria" which could be a synonym, as well as UMLS code for "PAH Gene	[C0031485]	Phenylketonurias	[ C0751434 ]		
785	9634518	1	Phenylketonuria (PKU) and mild hyperphenylalaninemia (MHP) are allelic disorders caused by mutations in the gene encoding phenylalanine hydroxylase PAH.	55	57	3	MHP	textual - yields no UMLS codes	[ C0751435 ]	Hyperphenylalaninaemia			
785	9634518	1	Phenylketonuria (PKU) and mild hyperphenylalaninemia (MHP) are allelic disorders caused by mutations in the gene encoding phenylalanine hydroxylase PAH.	1	15	15	Phenylketonuria	textual - yields annotated code, also yields code for "Classical Phenylketonuria" which could be a synonym, as well as UMLS code for "PAH Gene	[C0031485]	Phenylketonurias	[ C0751434 ]		
785	9634518	1	Phenylketonuria (PKU) and mild hyperphenylalaninemia (MHP) are allelic disorders caused by mutations in the gene encoding phenylalanine hydroxylase PAH.	32	52	21	hyperphenylalaninemia	textual	[ C0751435 ]	Hyperphenylalaninaemia			
786	9668171	1	A (CTG)nexpansion in the 3'-untranslated region (UTR) of the DM protein kinase gene ( DMPK ) is responsible for causing myotonic dystrophy DM.	140	141	2	DM	textual - yields correct UMLS code, however, also yields 8 others	[ C0027126 ]	Myotonic Dystrophy			
786	9668171	1	A (CTG)nexpansion in the 3'-untranslated region (UTR) of the DM protein kinase gene ( DMPK ) is responsible for causing myotonic dystrophy DM.	121	138	18	myotonic dystrophy	textual	[ C0027126 ]	Myotonic Dystrophy			
787	9671401	1	We have used single strand conformation polymorphism analysis to study the 27 exons of the RB1 gene in individuals from a family showing 'mild' expression of the retinoblastoma phenotype.	163	176	14	retinoblastoma	textual - yields correct UMLS code, however, also yields code for "RB1 Gene	[C0035335]	Retinoblastoma			
788	9674903	1	Maternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome PWS.	30	32	3	UPD	textual - does not yield correct UMLS code	[ C0949628 ]	Uniparental Disomy			
788	9674903	1	Maternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome PWS.	123	125	3	PWS	textual	[ C0032897 ]	Prader-Willi Syndrome			
788	9674903	1	Maternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome PWS.	10	27	18	uniparental disomy	textual	[ C0949628 ]	Uniparental Disomy			
788	9674903	1	Maternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome PWS.	101	121	21	Prader-Willi syndrome	textual	[ C0032897 ]	Prader-Willi Syndrome			
789	9674906	1	Recent studies demonstrated the existence of a genetically distinct, usually lethal form of the Schwartz-Jampel syndrome (SJS) of myotonia and skeletal dysplasia, which we called SJS type 2.	123	125	3	SJS	textual	[ C0036391 ]	Schwartz-Jampel Syndrome			
789	9674906	1	Recent studies demonstrated the existence of a genetically distinct, usually lethal form of the Schwartz-Jampel syndrome (SJS) of myotonia and skeletal dysplasia, which we called SJS type 2.	180	182	3	SJS	textual	[ C0036391 ]	Schwartz-Jampel Syndrome			
789	9674906	1	Recent studies demonstrated the existence of a genetically distinct, usually lethal form of the Schwartz-Jampel syndrome (SJS) of myotonia and skeletal dysplasia, which we called SJS type 2.	97	120	24	Schwartz-Jampel syndrome	textual	[ C0036391 ]	Schwartz-Jampel Syndrome			
789	9674906	1	Recent studies demonstrated the existence of a genetically distinct, usually lethal form of the Schwartz-Jampel syndrome (SJS) of myotonia and skeletal dysplasia, which we called SJS type 2.	131	138	8	myotonia	textual	[ C0027125 ]	Myotonia			
789	9674906	1	Recent studies demonstrated the existence of a genetically distinct, usually lethal form of the Schwartz-Jampel syndrome (SJS) of myotonia and skeletal dysplasia, which we called SJS type 2.	144	161	18	skeletal dysplasia	textual	[ C0410528 ]	Skeletal dysplasia			
790	9689113	9	We conclude that these mice very closely mimic severe human von Willebrand disease and will be very useful for investigating the role of vWf in normal physiology and in disease models..	61	82	22	von Willebrand disease	textual - A query of "von Willebrand" will yield just the annotated UMLS code. A query of "von Willebrand disease" will yield the annotated UMLS code along with the UMLS code for 'VWF gene	[C0042974]	von Willebrand Disease			
791	9700175	1	BACKGROUND: Women with mutations in either the BRCA1 or the BRCA2 gene have a high lifetime risk of ovarian cancer.	101	114	14	ovarian cancer	textual -  yields both UMLS codes.	[C1140680]  [C0029925]	Malignant neoplasm of ovary, Ovarian Carcinoma			
792	9700175	10	CONCLUSIONS: Oral-contraceptive use may reduce the risk of ovarian cancer in women with pathogenic mutations in the BRCA1 or BRCA2 gene..	60	73	14	ovarian cancer	textual -  yields both UMLS codes.	[C1140680]  [C0029925]	Malignant neoplasm of ovary, Ovarian Carcinoma			
793	9700175	9	Oral-contraceptive use protected against ovarian cancer both for carriers of the BRCA1 mutation (odds ratio, 0.5; 95 percent confidence interval, 0.3 to 0.9) and for carriers of the BRCA2 mutation odds ratio, 0.4; 95 percent confidence interval, 0.2 to 1.1.	42	55	14	ovarian cancer	textual -  yields both UMLS codes.	[C1140680]  [C0029925]	Malignant neoplasm of ovary, Ovarian Carcinoma			
794	9702690	1	We report a Japanese family with adrenoleukodystrophy (ALD) with a three base pair deletion (delGAG 291) in the ALD gene.	56	58	3	ALD	textual - yields correct UMLS codem, however, also yields 1 other	[C0162309]	Adrenoleukodystrophy			
794	9702690	1	We report a Japanese family with adrenoleukodystrophy (ALD) with a three base pair deletion (delGAG 291) in the ALD gene.	34	53	20	adrenoleukodystrophy	textual - yields correct UMLS codem, however, also yields 1 other	[C0162309]	Adrenoleukodystrophy			
795	9703418	2	We studied the molecular basis of C9 deficiency in four Japanese C9-deficient patients who had suffered from meningococcal meningitis.	35	47	13	C9 deficiency	textual	[ C1852676 ]	C9 DEFICIENCY			
795	9703418	2	We studied the molecular basis of C9 deficiency in four Japanese C9-deficient patients who had suffered from meningococcal meningitis.	110	133	24	meningococcal meningitis	textual	[ C0025294 ]	Meningococcal meningitis			
796	9703418	5	The common mutation at codon 95 in exon 4 might be responsible for most Japanese C9 deficiency..	82	94	13	C9 deficiency	textual	[ C1852676 ]	C9 DEFICIENCY			
797	9703501	1	The breast and ovarian cancer susceptibility gene BRCA1 encodes a zinc finger protein of unknown function.	5	29	25	breast and ovarian cancer	intuitive: list is present. A search of "breast cancer" yields 2 UMLS codes	[C0678222][C0006142]	Breast Carcinoma,  Malignant neoplasm of breast			
797	9703501	1	The breast and ovarian cancer susceptibility gene BRCA1 encodes a zinc finger protein of unknown function.	16	29	14	ovarian cancer	textual -  yields both UMLS codes.	[C1140680]  [C0029925]	Malignant neoplasm of ovary, Ovarian Carcinoma			
798	9705283	10	These results provide a new insight into the role of mutant PAX6 in causing aniridia..	77	84	8	aniridia	textual	[ C0003076 ]	Aniridia			
799	9705283	3	Heterozygous mutations in the human PAX6 gene result in various phenotypes, including aniridia, Peter's anomaly, autosomal dominant keratitis, and familial foveal dysplasia.	87	94	8	aniridia	textual	[ C0003076 ]	Aniridia			
799	9705283	3	Heterozygous mutations in the human PAX6 gene result in various phenotypes, including aniridia, Peter's anomaly, autosomal dominant keratitis, and familial foveal dysplasia.	97	111	15	Peter's anomaly	textual	[ C0344559 ]	Irido-corneo-trabecular dysgenesis			
799	9705283	3	Heterozygous mutations in the human PAX6 gene result in various phenotypes, including aniridia, Peter's anomaly, autosomal dominant keratitis, and familial foveal dysplasia.	114	141	28	autosomal dominant keratitis	textual	[ C0022568 ]	Keratitis			
799	9705283	3	Heterozygous mutations in the human PAX6 gene result in various phenotypes, including aniridia, Peter's anomaly, autosomal dominant keratitis, and familial foveal dysplasia.	164	172	9	dysplasia	textual	[ C0334044 ]	Dysplasia			
800	9705283	4	It is believed that the mutated allele of PAX6 produces an inactive protein and aniridia is caused due to genetic haploinsufficiency.	81	88	8	aniridia	textual	[ C0003076 ]	Aniridia			
801	9705283	5	However, several truncation mutations have been found to occur in the C-terminal half of PAX6 in patients with Aniridia resulting in mutant proteins that retain the DNA-binding domains but have lost most of the transactivation domain.	112	119	8	Aniridia	textual	[ C0003076 ]	Aniridia			
802	9709714	2	We describe the outcome of a 5-year-old girl with VLCAD deficiency who was first seen at 5 months of age with severe hypertrophic cardiomyopathy, hepatomegaly, encephalopathy, and hypotonia.	51	66	16	VLCAD deficiency	textual	[ C0342784 ]	Very long chain acyl-CoA dehydrogenase deficiency			
802	9709714	2	We describe the outcome of a 5-year-old girl with VLCAD deficiency who was first seen at 5 months of age with severe hypertrophic cardiomyopathy, hepatomegaly, encephalopathy, and hypotonia.	118	144	27	hypertrophic cardiomyopathy	textual	[ C0007194 ]	Hypertrophic Cardiomyopathy			
802	9709714	2	We describe the outcome of a 5-year-old girl with VLCAD deficiency who was first seen at 5 months of age with severe hypertrophic cardiomyopathy, hepatomegaly, encephalopathy, and hypotonia.	147	158	12	hepatomegaly	textual	[ C0019209 ]	Hepatomegaly			
802	9709714	2	We describe the outcome of a 5-year-old girl with VLCAD deficiency who was first seen at 5 months of age with severe hypertrophic cardiomyopathy, hepatomegaly, encephalopathy, and hypotonia.	161	174	14	encephalopathy	textual - yields annotated code, also yields UMLS code for "Encephalopathy Adverse Event	[C0085584]	Encephalopathies			
802	9709714	2	We describe the outcome of a 5-year-old girl with VLCAD deficiency who was first seen at 5 months of age with severe hypertrophic cardiomyopathy, hepatomegaly, encephalopathy, and hypotonia.	181	189	9	hypotonia	textual	[ C0026827 ]	Muscle hypotonia			
803	9709714	3	Biochemical studies indicated VLCAD deficiency caused by a stable yet inactive enzyme.	31	46	16	VLCAD deficiency	textual	[ C0342784 ]	Very long chain acyl-CoA dehydrogenase deficiency			
804	9709714	7	Clinical recognition of VLCAD deficiency is important because it is one of the few directly treatable causes of cardiomyopathy in children..	25	40	16	VLCAD deficiency	textual	[ C0342784 ]	Very long chain acyl-CoA dehydrogenase deficiency			
804	9709714	7	Clinical recognition of VLCAD deficiency is important because it is one of the few directly treatable causes of cardiomyopathy in children..	113	126	14	cardiomyopathy	textual	[ C0878544 ]	Cardiomyopathies			
805	9714764	1	A gene encoding a novel transmembrane protein was identified by DNA sequence analysis within the insulin-dependent diabetes mellitus (IDDM) locus IDDM4 on chromosome 11q13.	98	132	35	insulin-dependent diabetes mellitus	textual - yields annotated code, however, also yields UMLS code for DIABETES MELLITUS, INSULIN-DEPENDENT GENE [C1857290]	[C0011854]	Diabetes Mellitus, Insulin-Dependent			
806	9724771	2	A variant of FAP is attenuated adenomatous polyposis coli, which results from germ-line mutations in the 5' and 3' regions of the APC gene.	14	16	3	FAP	intuitive: in the abstract "FAP" was defined as familial adenomatous polyposis, yields annotated code for Adenomatous Polyposis Coli [C0032580], also yields 6 others	[C0032580]	Adenomatous Polyposis Coli			
806	9724771	2	A variant of FAP is attenuated adenomatous polyposis coli, which results from germ-line mutations in the 5' and 3' regions of the APC gene.	32	57	26	adenomatous polyposis coli	textual	[ C0032580 ]	Adenomatous Polyposis Coli			
807	9724771	9	There is increasing evidence that there exist germ-line variants of the APC gene that predispose to the development of multiple colorectal adenomas and carcinoma, but without the florid phenotype of classical FAP, and possibly with importance for colorectal cancer risk in the general population..	129	161	33	colorectal adenomas and carcinoma	textual	[ C0009402 ]	Carcinoma of the Large Intestine			
807	9724771	9	There is increasing evidence that there exist germ-line variants of the APC gene that predispose to the development of multiple colorectal adenomas and carcinoma, but without the florid phenotype of classical FAP, and possibly with importance for colorectal cancer risk in the general population..	129	147	19	colorectal adenomas	textual	[ C1302401 ]	Adenoma of large intestine			
807	9724771	9	There is increasing evidence that there exist germ-line variants of the APC gene that predispose to the development of multiple colorectal adenomas and carcinoma, but without the florid phenotype of classical FAP, and possibly with importance for colorectal cancer risk in the general population..	200	212	13	classical FAP	intuitive: in the abstract "FAP" was defined as familial adenomatous polyposis, yields annotated code for Adenomatous Polyposis Coli [C0032580], also yields 6 others	[C0032580]	Adenomatous Polyposis Coli			
807	9724771	9	There is increasing evidence that there exist germ-line variants of the APC gene that predispose to the development of multiple colorectal adenomas and carcinoma, but without the florid phenotype of classical FAP, and possibly with importance for colorectal cancer risk in the general population..	248	264	17	colorectal cancer	textual	[C0009402]  [C1527249]	Carcinoma of the Large Intestine, Colorectal Cancer			
808	9729124	7	Genomic sequencing of a BAC clone H_RG364P16 revealed the presence of another, highly homologous gene 3' of the CLD gene, with a similar genomic structure, recently identified as the Pendred syndrome gene PDS ..	184	199	16	Pendred syndrome	textual	[ C0271829 ]	Pendred`s syndrome			
809	9731533	1	Mutations in APC are classically associated with familial adenomatous polyposis (FAP), a highly penetrant autosomal dominant disorder characterized by multiple intestinal polyps and, without surgical intervention, the development of colorectal cancer CRC.	82	84	3	FAP	textual - yields correct UMLS code, however, also yields 6 others	[C0032580]	Adenomatous Polyposis Coli			
809	9731533	1	Mutations in APC are classically associated with familial adenomatous polyposis (FAP), a highly penetrant autosomal dominant disorder characterized by multiple intestinal polyps and, without surgical intervention, the development of colorectal cancer CRC.	252	254	3	CRC	textual - "CRC" was the defined abbreviation for "colorectal cancer", however, it yields only the UMLS code for "Carcinoma of the Large Intestine	C0009402 ]	Carcinoma of the Large Intestine			
809	9731533	1	Mutations in APC are classically associated with familial adenomatous polyposis (FAP), a highly penetrant autosomal dominant disorder characterized by multiple intestinal polyps and, without surgical intervention, the development of colorectal cancer CRC.	50	79	30	familial adenomatous polyposis	textual	[C0032580]	Adenomatous Polyposis Coli			
809	9731533	1	Mutations in APC are classically associated with familial adenomatous polyposis (FAP), a highly penetrant autosomal dominant disorder characterized by multiple intestinal polyps and, without surgical intervention, the development of colorectal cancer CRC.	161	177	17	intestinal polyps	textual	[ C0021846 ]	Intestinal Polyps			
809	9731533	1	Mutations in APC are classically associated with familial adenomatous polyposis (FAP), a highly penetrant autosomal dominant disorder characterized by multiple intestinal polyps and, without surgical intervention, the development of colorectal cancer CRC.	234	250	17	colorectal cancer	textual	[C0009402]  [C1527249]	Carcinoma of the Large Intestine, Colorectal Cancer			
810	9733027	1	Friedreich ataxia is usually caused by an expansion of a GAA trinucleotide repeat in intron 1 of the FRDA gene.	1	17	17	Friedreich ataxia	textual	[ C0016719 ]	Friedreich Ataxia			
811	9744473	1	Deficiency of arylsulfatase A (ARSA) enzyme activity causes metachromatic leukodystrophy MLD.	90	92	3	MLD	textual - yields annotated code, however, also yields 1 other	[ C0023522 ]	Leukodystrophy, Metachromatic			
811	9744473	1	Deficiency of arylsulfatase A (ARSA) enzyme activity causes metachromatic leukodystrophy MLD.	1	29	29	Deficiency of arylsulfatase A	textual	[ C0023522 ]	Leukodystrophy, Metachromatic			
811	9744473	1	Deficiency of arylsulfatase A (ARSA) enzyme activity causes metachromatic leukodystrophy MLD.	61	88	28	metachromatic leukodystrophy	textual	[ C0023522 ]	Leukodystrophy, Metachromatic			
812	9770531	1	To discover genes involved in von Hippel-Lindau (VHL)-mediated carcinogenesis, we used renal cell carcinoma cell lines stably transfected with wild-type VHL-expressing transgenes.	31	77	47	von Hippel-Lindau (VHL)-mediated carcinogenesis	textual	[ C0019562 ]	Von Hippel-Lindau Syndrome	C0596263 - Carcinogenesis		
812	9770531	1	To discover genes involved in von Hippel-Lindau (VHL)-mediated carcinogenesis, we used renal cell carcinoma cell lines stably transfected with wild-type VHL-expressing transgenes.	88	107	20	renal cell carcinoma	textual	[ C0007134 ]	Renal Cell Carcinoma			
813	9770531	4	Reintroduced wild-type VHL strongly inhibited the overexpression of the CA12 gene in the parental renal cell carcinoma cell lines.	99	118	20	renal cell carcinoma	textual	[ C0007134 ]	Renal Cell Carcinoma			
814	9771706	1	Wolfram syndrome (WFS; OMIM 222300) is an autosomal recessive neurodegenerative disorder defined by young-onset non-immune insulin-dependent diabetes mellitus and progressive optic atrophy.	19	21	3	WFS	textual - yields annotated code, however, also yields 2 others	[ C0043207 ]	Wolfram Syndrome			
814	9771706	1	Wolfram syndrome (WFS; OMIM 222300) is an autosomal recessive neurodegenerative disorder defined by young-onset non-immune insulin-dependent diabetes mellitus and progressive optic atrophy.	1	16	16	Wolfram syndrome	textual	[ C0043207 ]	Wolfram Syndrome			
814	9771706	1	Wolfram syndrome (WFS; OMIM 222300) is an autosomal recessive neurodegenerative disorder defined by young-onset non-immune insulin-dependent diabetes mellitus and progressive optic atrophy.	43	88	46	autosomal recessive neurodegenerative disorder	textual - yields annotated code, however, also yields Neurodegenerative Disorders Pathway [C1522560]	[C0524851]	Neurodegenerative Disorders	C0265388 - Autosomal recessive hereditary disorder		
814	9771706	1	Wolfram syndrome (WFS; OMIM 222300) is an autosomal recessive neurodegenerative disorder defined by young-onset non-immune insulin-dependent diabetes mellitus and progressive optic atrophy.	101	149	49	young-onset non-immune insulin-dependent diabetes	intuitive: text is stating the the early onset of a specific disease	[C0011854]	Diabetes Mellitus, Insulin-Dependent	[ C0814120 ]early disease onset		
814	9771706	1	Wolfram syndrome (WFS; OMIM 222300) is an autosomal recessive neurodegenerative disorder defined by young-onset non-immune insulin-dependent diabetes mellitus and progressive optic atrophy.	176	188	13	optic atrophy	textual	[ C0029124 ]	Optic Atrophy			
815	9774970	1	BRCA1 and BRCA2 account for most cases of familial, early onset breast and/or ovarian cancer and encode products that each interact with hRAD51.	43	92	50	familial, early onset breast and/or ovarian cancer	intuitive: list is present search of "familial breast cancer" yields correct UMLS code	C0346153	Familial cancer of breast 	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776		
815	9774970	1	BRCA1 and BRCA2 account for most cases of familial, early onset breast and/or ovarian cancer and encode products that each interact with hRAD51.	43	92	50	familial, early onset breast and/or ovarian cancer	intuitive - list is present	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 		
816	9790667	1	A novel C to A mutation in the sterol 27-hydroxylase gene (CYP27) was identified by sequencing amplified CYP27 gene products from a patient with cerebrotendinous xanthomatosis CTX.	177	179	3	CTX	textual - yields annotated code, however, also yields 2 others	[ C0238052 ]	Xanthomatosis, Cerebrotendinous			
816	9790667	1	A novel C to A mutation in the sterol 27-hydroxylase gene (CYP27) was identified by sequencing amplified CYP27 gene products from a patient with cerebrotendinous xanthomatosis CTX.	146	175	30	cerebrotendinous xanthomatosis	textual	[ C0238052 ]	Xanthomatosis, Cerebrotendinous			
817	9792409	1	Germline mutations in the ATM gene are responsible for the autosomal recessive disorder ataxia-telangiectasia A-T.	111	113	3	A-T	textual - yields wrong UMLS code	[ C0004135 ]	Ataxia Telangiectasia			
817	9792409	1	Germline mutations in the ATM gene are responsible for the autosomal recessive disorder ataxia-telangiectasia A-T.	89	109	21	ataxia-telangiectasia	textual	[ C0004135 ]	Ataxia Telangiectasia			
818	9792860	1	Autosomal recessive Alport syndrome is a progressive hematuric glomerulonephritis characterized by glomerular basement membrane abnormalities and associated with mutations in either the COL4A3 or the COL4A4 gene, which encode the alpha3 and alpha4 type IV collagen chains, respectively.	21	35	15	Alport syndrome	textual	[ C1567741 ]	Alport`s syndrome			
818	9792860	1	Autosomal recessive Alport syndrome is a progressive hematuric glomerulonephritis characterized by glomerular basement membrane abnormalities and associated with mutations in either the COL4A3 or the COL4A4 gene, which encode the alpha3 and alpha4 type IV collagen chains, respectively.	64	81	18	glomerulonephritis	textual	[ C0017658 ]	Glomerulonephritis			
819	9792860	3	We report here the complete characterization of the 48 exons of the COL4A4 gene, a comprehensive gene screen, and the subsequent detection of 10 novel mutations in eight patients diagnosed with autosomal recessive Alport syndrome.	215	229	15	Alport syndrome	textual	[ C1567741 ]	Alport`s syndrome			
820	9792861	1	We have identified four mutations in each of the breast cancer-susceptibility genes, BRCA1 and BRCA2, in French Canadian breast cancer and breast/ovarian cancer families from Quebec.	50	62	13	breast cancer	textual - yields 2 UMLS codes	[C0678222][C0006142]	Breast Carcinoma,  Malignant neoplasm of breast			
820	9792861	1	We have identified four mutations in each of the breast cancer-susceptibility genes, BRCA1 and BRCA2, in French Canadian breast cancer and breast/ovarian cancer families from Quebec.	122	134	13	breast cancer	textual - yields 2 UMLS codes	[C0678222][C0006142]	Breast Carcinoma,  Malignant neoplasm of breast			
820	9792861	1	We have identified four mutations in each of the breast cancer-susceptibility genes, BRCA1 and BRCA2, in French Canadian breast cancer and breast/ovarian cancer families from Quebec.	140	160	21	breast/ovarian cancer	intuitive: list is present. A search of "breast cancer" yields 2 UMLS codes	[C0678222][C0006142]	Breast Carcinoma,  Malignant neoplasm of breast			
820	9792861	1	We have identified four mutations in each of the breast cancer-susceptibility genes, BRCA1 and BRCA2, in French Canadian breast cancer and breast/ovarian cancer families from Quebec.	147	160	14	ovarian cancer	textual -  yields both UMLS codes.	[C1140680]  [C0029925]	Malignant neoplasm of ovary, Ovarian Carcinoma			
821	9792861	11	The identification of common BRCA1 and BRCA2 mutations will facilitate carrier detection in French Canadian breast cancer and breast/ovarian cancer families..	109	121	13	breast cancer	textual - yields 2 UMLS codes	[C0678222][C0006142]	Breast Carcinoma,  Malignant neoplasm of breast			
821	9792861	11	The identification of common BRCA1 and BRCA2 mutations will facilitate carrier detection in French Canadian breast cancer and breast/ovarian cancer families..	127	147	21	breast/ovarian cancer	intuitive: list is present. A search of "breast cancer" yields 2 UMLS codes	[C0678222][C0006142]	Breast Carcinoma,  Malignant neoplasm of breast			
821	9792861	11	The identification of common BRCA1 and BRCA2 mutations will facilitate carrier detection in French Canadian breast cancer and breast/ovarian cancer families..	134	147	14	ovarian cancer	textual -  yields both UMLS codes.	[C1140680]  [C0029925]	Malignant neoplasm of ovary, Ovarian Carcinoma			
822	9792861	7	The odds of detection of any of the four BRCA1 mutations was 18.7x greater if one or more cases of ovarian cancer were also present in the family.	100	113	14	ovarian cancer	textual -  yields both UMLS codes.	[C1140680]  [C0029925]	Malignant neoplasm of ovary, Ovarian Carcinoma			
823	9800909	1	Molecular study and neuropsychological analysis were performed concurrently on 49 patients with Duchenne muscular dystrophy (DMD) in order to find a molecular explanation for the cognitive impairment observed in most DMD patients.	126	128	3	DMD	textual - yields annotated code, however, also yields 3 others	[ C0013264 ]	Muscular Dystrophy, Duchenne			
823	9800909	1	Molecular study and neuropsychological analysis were performed concurrently on 49 patients with Duchenne muscular dystrophy (DMD) in order to find a molecular explanation for the cognitive impairment observed in most DMD patients.	218	220	3	DMD	textual - yields annotated code, however, also yields 3 others	[ C0013264 ]	Muscular Dystrophy, Duchenne			
823	9800909	1	Molecular study and neuropsychological analysis were performed concurrently on 49 patients with Duchenne muscular dystrophy (DMD) in order to find a molecular explanation for the cognitive impairment observed in most DMD patients.	97	123	27	Duchenne muscular dystrophy	textual	[ C0013264 ]	Muscular Dystrophy, Duchenne			
823	9800909	1	Molecular study and neuropsychological analysis were performed concurrently on 49 patients with Duchenne muscular dystrophy (DMD) in order to find a molecular explanation for the cognitive impairment observed in most DMD patients.	180	199	20	cognitive impairment	textual	[ C0338656 ]	Impaired cognition (finding)			
824	9831355	2	Interestingly, the I1307K APC polymorphism, associated with an increased risk of colorectal cancer, is also present in this family.	82	98	17	colorectal cancer	textual	[C0009402]  [C1527249]	Carcinoma of the Large Intestine, Colorectal Cancer			
825	9843038	1	Hereditary coproporphyria (HCP) is an autosomal dominant disease characterized by a deficiency of coproporphyrinogen oxidase (CPO) caused by a mutation in the CPO gene.	28	30	3	HCP	textual - does not yield annotated code	[C0162531]	Hereditary Coproporphyria			
825	9843038	1	Hereditary coproporphyria (HCP) is an autosomal dominant disease characterized by a deficiency of coproporphyrinogen oxidase (CPO) caused by a mutation in the CPO gene.	1	25	25	Hereditary coproporphyria	textual - yields annotated code, however, also yields 1 other	[C0162531]	Hereditary Coproporphyria			
825	9843038	1	Hereditary coproporphyria (HCP) is an autosomal dominant disease characterized by a deficiency of coproporphyrinogen oxidase (CPO) caused by a mutation in the CPO gene.	85	124	40	deficiency of coproporphyrinogen oxidase	textual	[C0162531]	Hereditary Coproporphyria			
826	9848786	6	Factor H deficiency is the only complement deficiency associated with HUS.	71	73	3	HUS	intuitive: "HUS" is defined as "hemolytic uremic syndrome" in the abstract.  A query of "HUS" does not yield correct UMLS code	[ C0019061 ]	Hemolytic-Uremic Syndrome			
826	9848786	6	Factor H deficiency is the only complement deficiency associated with HUS.	1	19	19	Factor H deficiency	textual					
827	9852676	1	The myotonic dystrophy (DM) mutation is an unstable (CTG)n repeat, present at a copy number of 5-37 repeats on normal chromosomes but amplified to 50-3000 copies on DM chromosomes.	25	26	2	DM	textual - yields correct UMLS code, however, also yields 8 others	[ C0027126 ]	Myotonic Dystrophy			
827	9852676	1	The myotonic dystrophy (DM) mutation is an unstable (CTG)n repeat, present at a copy number of 5-37 repeats on normal chromosomes but amplified to 50-3000 copies on DM chromosomes.	5	22	18	myotonic dystrophy	textual	[ C0027126 ]	Myotonic Dystrophy			
828	9856498	2	Meningococcal disease is endemic in the Cape and almost all pedigrees of total C6 deficiency (C6Q0) have been ascertained because of recurrent disease.	1	21	21	Meningococcal disease	textual	[ C0025303 ]	Meningococcal Infections			
828	9856498	2	Meningococcal disease is endemic in the Cape and almost all pedigrees of total C6 deficiency (C6Q0) have been ascertained because of recurrent disease.	80	92	13	C6 deficiency	intuitive: I believe "C6" is the abbreviation for "Complement 6", a search for "Complement 6 Deficiency" yields annotated UMLS code	[ C0398767 ]	Complement 6 deficiency			
829	9856499	1	Seven further molecular bases of C7 deficiency are described.	34	46	13	C7 deficiency	textual	[ C1864694 ]	COMPLEMENT COMPONENT 7 DEFICIENCY			
830	9861003	1	Bipolar affective disorder (BPAD; manic-depressive illness) is characterized by episodes of mania and/or hypomania interspersed with periods of depression.	29	32	4	BPAD	textual - does not yield annotated code, however also yields 5 codes having to do with "Major Effective Disorder	[C0005586]	Bipolar Disorder			
830	9861003	1	Bipolar affective disorder (BPAD; manic-depressive illness) is characterized by episodes of mania and/or hypomania interspersed with periods of depression.	1	26	26	Bipolar affective disorder	textual - yields annotated code, however also yields 5 others related to "Major Effective Disorder	[C0005586]	Bipolar Disorder			
830	9861003	1	Bipolar affective disorder (BPAD; manic-depressive illness) is characterized by episodes of mania and/or hypomania interspersed with periods of depression.	35	58	24	manic-depressive illness	textual - yields annotated code, however also yields 1 other having to do with "Major Effective Disorder	[C0005586]	Bipolar Disorder			
830	9861003	1	Bipolar affective disorder (BPAD; manic-depressive illness) is characterized by episodes of mania and/or hypomania interspersed with periods of depression.	93	97	5	mania	textual	[ C0338831 ]	Manic			
830	9861003	1	Bipolar affective disorder (BPAD; manic-depressive illness) is characterized by episodes of mania and/or hypomania interspersed with periods of depression.	106	114	9	hypomania	textual	[ C0241934 ]	Hypomania			
830	9861003	1	Bipolar affective disorder (BPAD; manic-depressive illness) is characterized by episodes of mania and/or hypomania interspersed with periods of depression.	145	154	10	depression	textual - yields annotated code, however also yields 6 others	[ C0349217 ]	Depressive episode, unspecified			
831	9863607	2	This results in infertility and congenital myotonic dystrophy (CDM) with the disappearance of DM in that pedigree.	64	66	3	CDM	textual - does not yield annotated code	[ C0410226 ]	Myotonic Dystrophy, Congenital			
831	9863607	2	This results in infertility and congenital myotonic dystrophy (CDM) with the disappearance of DM in that pedigree.	65	66	2	DM	intuitive: the abstract defined "DM" as "myotonic dystrophy".  A query of "DM" yields the annotated code, however, it also yields 8 others	[C0027126]	Myotonic Dystrophy			
831	9863607	2	This results in infertility and congenital myotonic dystrophy (CDM) with the disappearance of DM in that pedigree.	33	61	29	congenital myotonic dystrophy	textual	[ C0410226 ]	Myotonic Dystrophy, Congenital			
832	9867744	5	A DNA-based test for the HFE gene is commercially available, but its place in the diagnosis of hemochromatosis is still being evaluated.	96	110	15	hemochromatosis	textual - yields annotated code, however, also yields UMLS code for "HFE gene	[C0018995]	Hemochromatosis			
833	9869602	2	The I1307K APC gene variant was found in 6.1% of American Jews, 28% of their familial colorectal cancer cases, but not in non-Jews.	87	103	17	colorectal cancer	textual	[C0009402]  [C1527249]	Carcinoma of the Large Intestine, Colorectal Cancer			
834	9869602	8	CONCLUSIONS: The I1307K APC variant may represent a susceptibility gene for colorectal, or other, cancers in Ashkenazi Jews, and partially explains the higher incidence of colorectal cancer in European Israelis..	77	105	29	colorectal, or other, cancers	intuitive: list is present.  A query of "colorectal cancer" will yield the annotated codes	[C0009402]  [C1527249]	Carcinoma of the Large Intestine, Colorectal Cancer			
834	9869602	8	CONCLUSIONS: The I1307K APC variant may represent a susceptibility gene for colorectal, or other, cancers in Ashkenazi Jews, and partially explains the higher incidence of colorectal cancer in European Israelis..	92	105	14	other, cancers	textual	[ C1707251 ]	Cancer Other			
834	9869602	8	CONCLUSIONS: The I1307K APC variant may represent a susceptibility gene for colorectal, or other, cancers in Ashkenazi Jews, and partially explains the higher incidence of colorectal cancer in European Israelis..	173	189	17	colorectal cancer	textual	[C0009402]  [C1527249]	Carcinoma of the Large Intestine, Colorectal Cancer			
835	9888388	1	Hereditary coproporphyria (HC) is an acute hepatic porphyria with autosomal dominant inheritance caused by deficient activity of coproporphyrinogen III oxidase CPO.	28	29	2	HC	textual - does not yield annotated code	[C0162531]	Hereditary Coproporphyria			
835	9888388	1	Hereditary coproporphyria (HC) is an acute hepatic porphyria with autosomal dominant inheritance caused by deficient activity of coproporphyrinogen III oxidase CPO.	1	25	25	Hereditary coproporphyria	textual - yields annotated code, however, also yields 1 other	[C0162531]	Hereditary Coproporphyria			
835	9888388	1	Hereditary coproporphyria (HC) is an acute hepatic porphyria with autosomal dominant inheritance caused by deficient activity of coproporphyrinogen III oxidase CPO.	38	60	23	acute hepatic porphyria	textual - yields annotated code, also yields code for Porphobilinogen synthase deficiency [C0268328], which seems to be associated with the annotated code and possibly a synonym	[C1852252]	PORPHYRIA, ACUTE HEPATIC	[C0268328]		
835	9888388	1	Hereditary coproporphyria (HC) is an acute hepatic porphyria with autosomal dominant inheritance caused by deficient activity of coproporphyrinogen III oxidase CPO.	108	159	52	deficient activity of coproporphyrinogen III oxidase	intuitive: text states a deficiency of a specific enzyme	[ C0149676 ]	Enzyme Deficiency			
836	9888390	1	In a family with three siblings, one developed classical late infantile metachromatic leukodystrophy (MLD), fatal at age 5 years, with deficient arylsulfatase A (ARSA) activity and increased galactosylsulfatide (GS) excretion.	103	105	3	MLD	intuitive: "MLD" is only a abbreviation for "metachromatic leukodystophy" not "infantile metachromatic leukodystrophy".  yields annotated code, however, also yields 1 other	[C0023522]	Leukodystrophy, Metachromatic			
836	9888390	1	In a family with three siblings, one developed classical late infantile metachromatic leukodystrophy (MLD), fatal at age 5 years, with deficient arylsulfatase A (ARSA) activity and increased galactosylsulfatide (GS) excretion.	63	100	38	infantile metachromatic leukodystrophy	textual	[ C0751278 ]	Metachromatic Leukodystrophy, Infant			
836	9888390	1	In a family with three siblings, one developed classical late infantile metachromatic leukodystrophy (MLD), fatal at age 5 years, with deficient arylsulfatase A (ARSA) activity and increased galactosylsulfatide (GS) excretion.	136	160	25	deficient arylsulfatase A	intuitive: text states a deficiency of a specific enzyme	[ C0149676 ]	Enzyme Deficiency			
837	9927033	5	Thus, a homozygous germ-line MLH1 mutation and consequent mismatch repair deficiency results in a mutator phenotype characterized by leukemia and/or lymphoma associated with neurofibromatosis type 1..	134	141	8	leukemia	textual	[ C0023418 ]	leukemia			
837	9927033	5	Thus, a homozygous germ-line MLH1 mutation and consequent mismatch repair deficiency results in a mutator phenotype characterized by leukemia and/or lymphoma associated with neurofibromatosis type 1..	150	157	8	lymphoma	textual	[ C0024299 ]	Lymphoma			
837	9927033	5	Thus, a homozygous germ-line MLH1 mutation and consequent mismatch repair deficiency results in a mutator phenotype characterized by leukemia and/or lymphoma associated with neurofibromatosis type 1..	175	191	17	neurofibromatosis	textual	[ C0027831 ]	Neurofibromatosis 1			
838	9931324	1	Mutations of the human PAX6 gene underlie aniridia (congenital absence of the iris), a rare dominant malformation of the eye.	43	50	8	aniridia	textual	[ C0003076 ]	Aniridia			
838	9931324	1	Mutations of the human PAX6 gene underlie aniridia (congenital absence of the iris), a rare dominant malformation of the eye.	53	82	30	congenital absence of the iris	textual	[ C0003076 ]	Aniridia			
838	9931324	1	Mutations of the human PAX6 gene underlie aniridia (congenital absence of the iris), a rare dominant malformation of the eye.	102	124	23	malformation of the eye	textual	[ C0015393 ]	Eye Abnormalities			
839	9931324	2	The spectrum of PAX6 mutations in aniridia patients is highly biased, with 92% of all reported mutations leading to premature truncation of the protein (nonsense, splicing, insertions and deletions) and just 2% leading to substitution of one amino acid by another missense.	35	42	8	aniridia	textual	[ C0003076 ]	Aniridia			
840	9931324	3	The extraordinary conservation of the PAX6 protein at the amino acid level amongst vertebrates predicts that pathological missense mutations should in fact be common even though they are hardly ever seen in aniridia patients.	208	215	8	aniridia	textual	[ C0003076 ]	Aniridia			
841	9931324	4	This indicates that there is a heavy ascertainment bias in the selection of patients for PAX6 mutation analysis and that the 'missing' PAX6 missense mutations frequently may underlie phenotypes distinct from textbook aniridia.	218	225	8	aniridia	textual	[ C0003076 ]	Aniridia			
842	9931324	5	Here we present four novel PAX6 missense mutations, two in association with atypical phenotypes: ectopia pupillae (displaced pupils) and congenital nystagmus (searching gaze), and two in association with more recognizable aniridia phenotypes.	98	113	16	ectopia pupillae	textual - yields annotated code, however, also yields code for Congenital ectopic pupil [C1271219], which is a possible synonym	[C0271135]	Ectopic pupil	C1271219		
842	9931324	5	Here we present four novel PAX6 missense mutations, two in association with atypical phenotypes: ectopia pupillae (displaced pupils) and congenital nystagmus (searching gaze), and two in association with more recognizable aniridia phenotypes.	116	131	16	displaced pupils	intuitive: text was stated as the symptom of ectopia pupillae, it has it's own unique UMLS code even though it could be a synonym for ectopia pupillae	[ C1867160 ]	Displaced pupils	[C0271135]		
842	9931324	5	Here we present four novel PAX6 missense mutations, two in association with atypical phenotypes: ectopia pupillae (displaced pupils) and congenital nystagmus (searching gaze), and two in association with more recognizable aniridia phenotypes.	138	157	20	congenital nystagmus	textual	[ C0700501 ]	Congenital nystagmus			
842	9931324	5	Here we present four novel PAX6 missense mutations, two in association with atypical phenotypes: ectopia pupillae (displaced pupils) and congenital nystagmus (searching gaze), and two in association with more recognizable aniridia phenotypes.	160	173	14	searching gaze	textual - was listed as a symptom of "congenital nystagmus", however it yields no UMLS code					
843	993342	2	Patients were selected because they were heterozygous or homozygous for C2 deficiency. 12 families with 15 matings informative for C2 deficiency were found.	73	85	13	C2 deficiency	intuitive: from my understanding from the abstract "C2 deficiency" is the abbreviation for "Complement 2 deficiency", a query of the text yields the UMLS code for "C2 gene"however	[ C0398756 ]	Complement 2 deficiency			
843	993342	2	Patients were selected because they were heterozygous or homozygous for C2 deficiency. 12 families with 15 matings informative for C2 deficiency were found.	132	144	13	C2 deficiency	intuitive: from my understanding from the abstract "C2 deficiency" is the abbreviation for "Complement 2 deficiency", a query of the text yields the UMLS code for "C2 gene"however	[ C0398756 ]	Complement 2 deficiency			
844	993342	3	Of 57 informative meioses, two crossovers were noted between the C2 deficiency gene and the HLA-B gene, with a recombinant fraction of 0.035.	66	78	13	C2 deficiency	intuitive: from my understanding from the abstract "C2 deficiency" is the abbreviation for "Complement 2 deficiency", a query of the text yields the UMLS code for "C2 gene"however	[ C0398756 ]	Complement 2 deficiency			
845	993342	4	A lod score of 13 was calculated for linkage between C2 deficiency and HLA-B at a maximum likelihood value of the recombinant fraction of 0.04. 18 families with 21 informative matings for both properdin Factor B allotype and HLA-B were found.	54	66	13	C2 deficiency	intuitive: from my understanding from the abstract "C2 deficiency" is the abbreviation for "Complement 2 deficiency", a query of the text yields the UMLS code for "C2 gene"however	[ C0398756 ]	Complement 2 deficiency			
846	993342	8	These studies suggest that the genes for Factor B and C2 deficiency are located outside those for HLA, that the order of genese is HLA-A, -B, -D, Factor B allotype, C2 deficiency, that the genes coding for C2 deficiency and Factor B allotypes are approximately 3--5 centimorgans from the HLA-A and HLA-B loci, and that the apparent lack of recombinants between the Factor B gene and C2 deficiency gene suggests that these two genes lie in close proximity to one another..	55	67	13	C2 deficiency	intuitive: from my understanding from the abstract "C2 deficiency" is the abbreviation for "Complement 2 deficiency", a query of the text yields the UMLS code for "C2 gene"however	[ C0398756 ]	Complement 2 deficiency			
846	993342	8	These studies suggest that the genes for Factor B and C2 deficiency are located outside those for HLA, that the order of genese is HLA-A, -B, -D, Factor B allotype, C2 deficiency, that the genes coding for C2 deficiency and Factor B allotypes are approximately 3--5 centimorgans from the HLA-A and HLA-B loci, and that the apparent lack of recombinants between the Factor B gene and C2 deficiency gene suggests that these two genes lie in close proximity to one another..	166	178	13	C2 deficiency	intuitive: from my understanding from the abstract "C2 deficiency" is the abbreviation for "Complement 2 deficiency", a query of the text yields the UMLS code for "C2 gene"however	[ C0398756 ]	Complement 2 deficiency			
846	993342	8	These studies suggest that the genes for Factor B and C2 deficiency are located outside those for HLA, that the order of genese is HLA-A, -B, -D, Factor B allotype, C2 deficiency, that the genes coding for C2 deficiency and Factor B allotypes are approximately 3--5 centimorgans from the HLA-A and HLA-B loci, and that the apparent lack of recombinants between the Factor B gene and C2 deficiency gene suggests that these two genes lie in close proximity to one another..	207	219	13	C2 deficiency	intuitive: from my understanding from the abstract "C2 deficiency" is the abbreviation for "Complement 2 deficiency", a query of the text yields the UMLS code for "C2 gene"however	[ C0398756 ]	Complement 2 deficiency			
846	993342	8	These studies suggest that the genes for Factor B and C2 deficiency are located outside those for HLA, that the order of genese is HLA-A, -B, -D, Factor B allotype, C2 deficiency, that the genes coding for C2 deficiency and Factor B allotypes are approximately 3--5 centimorgans from the HLA-A and HLA-B loci, and that the apparent lack of recombinants between the Factor B gene and C2 deficiency gene suggests that these two genes lie in close proximity to one another..	384	396	13	C2 deficiency	intuitive: from my understanding from the abstract "C2 deficiency" is the abbreviation for "Complement 2 deficiency", a query of the text yields the UMLS code for "C2 gene"however	[ C0398756 ]	Complement 2 deficiency			
847	9949197	1	Emerin is a nuclear membrane protein which is missing or defective in Emery-Dreifuss muscular dystrophy EDMD.	105	108	4	EDMD	textual - does not yield annotated UMLS code, however, also yields UMLS code for [ C0751337 ] X-Linked Emery-Dreifuss Muscular Dystrophy, which seems to be a synonym	[ C0410189 ]	Muscular Dystrophy, Emery-Dreifuss	[ C0751337 ]		
847	9949197	1	Emerin is a nuclear membrane protein which is missing or defective in Emery-Dreifuss muscular dystrophy EDMD.	71	103	33	Emery-Dreifuss muscular dystrophy	textual	[ C0410189 ]	Muscular Dystrophy, Emery-Dreifuss			
848	9949209	2	The major cause of hepatic copper accumulation in man is a dysfunctional ATP7B gene, causing Wilson disease WD.	109	110	2	WD	textual - yields correct UMLS code, however, also yields 2 others	[ C0019202 ]	Hepatolenticular Degeneration			
848	9949209	2	The major cause of hepatic copper accumulation in man is a dysfunctional ATP7B gene, causing Wilson disease WD.	94	107	14	Wilson disease	textual	[ C0019202 ]	Hepatolenticular Degeneration			
849	9950360	2	In this study, direct mutation analysis of the APC gene was performed to determine genotype-phenotype correlations for nine extracolonic manifestations and to investigate the incidence of APC mutations in non-FAP colorectal cancer.	210	212	3	FAP	intuitive: The abstract defined "APC" as "familial adenomatous polyposis".  A query of "FAP" does yield the annotated code, however, it also yields 6 others	[ C0032580 ]	Adenomatous Polyposis Coli			
849	9950360	2	In this study, direct mutation analysis of the APC gene was performed to determine genotype-phenotype correlations for nine extracolonic manifestations and to investigate the incidence of APC mutations in non-FAP colorectal cancer.	214	230	17	colorectal cancer	textual	[C0009402]  [C1527249]	Carcinoma of the Large Intestine, Colorectal Cancer			
850	9950360	3	METHODS: The APC gene was analysed in 190 unrelated FAP and 15 non-FAP colorectal cancer patients using denaturing gradient gel electrophoresis, the protein truncation test, and direct sequencing.	53	55	3	FAP	intuitive: The abstract defined "APC" as "familial adenomatous polyposis".  A query of "FAP" does yield the annotated code, however, it also yields 6 others	[ C0032580 ]	Adenomatous Polyposis Coli			
850	9950360	3	METHODS: The APC gene was analysed in 190 unrelated FAP and 15 non-FAP colorectal cancer patients using denaturing gradient gel electrophoresis, the protein truncation test, and direct sequencing.	68	70	3	FAP	intuitive: The abstract defined "APC" as "familial adenomatous polyposis".  A query of "FAP" does yield the annotated code, however, it also yields 6 others	[ C0032580 ]	Adenomatous Polyposis Coli			
850	9950360	3	METHODS: The APC gene was analysed in 190 unrelated FAP and 15 non-FAP colorectal cancer patients using denaturing gradient gel electrophoresis, the protein truncation test, and direct sequencing.	72	88	17	colorectal cancer	textual	[C0009402]  [C1527249]	Carcinoma of the Large Intestine, Colorectal Cancer			
851	9950360	8	This study also provided evidence for the pathological nature of amino acid changes in APC associated with both FAP and non-FAP colorectal cancer patients..	113	115	3	FAP	intuitive: The abstract defined "APC" as "familial adenomatous polyposis".  A query of "FAP" does yield the annotated code, however, it also yields 6 others	[ C0032580 ]	Adenomatous Polyposis Coli			
851	9950360	8	This study also provided evidence for the pathological nature of amino acid changes in APC associated with both FAP and non-FAP colorectal cancer patients..	125	127	3	FAP	intuitive: The abstract defined "APC" as "familial adenomatous polyposis".  A query of "FAP" does yield the annotated code, however, it also yields 6 others	[ C0032580 ]	Adenomatous Polyposis Coli			
851	9950360	8	This study also provided evidence for the pathological nature of amino acid changes in APC associated with both FAP and non-FAP colorectal cancer patients..	129	145	17	colorectal cancer	textual	[C0009402]  [C1527249]	Carcinoma of the Large Intestine, Colorectal Cancer			
852	9973276	3	To assess the risk of this common APC allelic variant in colorectal carcinogenesis, we have analyzed a large cohort of unselected Ashkenazi Jewish subjects with adenomatous polyps and.or colorectal cancer, for the APC I1307K polymorphism.	162	179	18	adenomatous polyps	textual	[ C0206677 ]	Adenomatous Polyps			
852	9973276	3	To assess the risk of this common APC allelic variant in colorectal carcinogenesis, we have analyzed a large cohort of unselected Ashkenazi Jewish subjects with adenomatous polyps and.or colorectal cancer, for the APC I1307K polymorphism.	188	204	17	colorectal cancer	textual	[C0009402]  [C1527249]	Carcinoma of the Large Intestine, Colorectal Cancer			
853	9973276	6	Furthermore, compared with noncarriers, APC I1307K carriers had increased numbers of adenomas and colorectal cancers per patient (P=.03), as well as a younger age at diagnosis.	86	93	8	adenomas	intuitive: From reading the abstract it appears that they were referencing colorectal adenomas.  A query of "colorectal adenomas" yields annotated UMLS code	[ C1302401 ]	Adenoma of large intestine			
853	9973276	6	Furthermore, compared with noncarriers, APC I1307K carriers had increased numbers of adenomas and colorectal cancers per patient (P=.03), as well as a younger age at diagnosis.	99	116	18	colorectal cancers	textual	[C0009402]  [C1527249]	Carcinoma of the Large Intestine, Colorectal Cancer			
854	9973276	7	We conclude that the APC I1307K variant leads to increased adenoma formation and directly contributes to 3%-4% of all Ashkenazi Jewish colorectal cancer.	60	66	7	adenoma	intuitive: From reading the abstract it appears that they were referencing colorectal adenomas.  A query of "colorectal adenomas" yields annotated UMLS code	[ C1302401 ]	Adenoma of large intestine			
854	9973276	7	We conclude that the APC I1307K variant leads to increased adenoma formation and directly contributes to 3%-4% of all Ashkenazi Jewish colorectal cancer.	136	152	17	colorectal cancer	textual	[C0009402]  [C1527249]	Carcinoma of the Large Intestine, Colorectal Cancer			
855	9988281	1	Although the link between the BRCA1 tumour-suppressor gene and hereditary breast and ovarian cancer is established, the role, if any, of BRCA1 in non-familial cancers is unclear.	64	99	36	hereditary breast and ovarian cancer	C0346153	Familial cancer of breast 	hereditary breast/ovarian cancer (BRCA1, BRCA2) - C0677776			
855	9988281	1	Although the link between the BRCA1 tumour-suppressor gene and hereditary breast and ovarian cancer is established, the role, if any, of BRCA1 in non-familial cancers is unclear.	64	99	36	hereditary breast and ovarian cancer	C1833686	OVARIAN CANCER, FAMILIA	T0000018 - C0029925, C1140680 			
855	9988281	1	Although the link between the BRCA1 tumour-suppressor gene and hereditary breast and ovarian cancer is established, the role, if any, of BRCA1 in non-familial cancers is unclear.	86	99	14	ovarian cancer	textual -  yields both UMLS codes.	[C1140680]  [C0029925]	Malignant neoplasm of ovary, Ovarian Carcinoma			
856	9988281	2	BRCA1 mutations are rare in sporadic cancers, but loss of BRCA1 resulting from reduced expression or incorrect subcellular localization is postulated to be important in non-familial breast and ovarian cancers.	183	208	26	breast and ovarian cancers	intuitive: list is present. A search of "breast cancer" yields 2 UMLS codes	[C0678222][C0006142]	Breast Carcinoma,  Malignant neoplasm of breast			
856	9988281	2	BRCA1 mutations are rare in sporadic cancers, but loss of BRCA1 resulting from reduced expression or incorrect subcellular localization is postulated to be important in non-familial breast and ovarian cancers.	194	208	15	ovarian cancers	textual -  yields both UMLS codes.	[C1140680]  [C0029925]	Malignant neoplasm of ovary, Ovarian Carcinoma			
857	9069115	15	We therefore conclude that the HGO cDNA encodes the gene responsible for alkaptonuria..	74	85	12	alkaptonuria	textual	C0002066	Alkaptonuria			
858	10021369	1	The adenomatous polyposis coli (APC) tumour-suppressor protein controls the Wnt signalling pathway by forming a complex with glycogen synthase kinase 3beta (GSK-3beta), axin/conductin and betacatenin.	5	30	26	adenomatous polyposis coli	textual	C0032580	Adenomatous Polyposis Coli			
858	10021369	1	The adenomatous polyposis coli (APC) tumour-suppressor protein controls the Wnt signalling pathway by forming a complex with glycogen synthase kinase 3beta (GSK-3beta), axin/conductin and betacatenin.	38	43	6	tumour	textual - yields annotated code, however, also yields 1 other	C0027651	Neoplasms			
859	10021369	2	Complex formation induces the rapid degradation of betacatenin.					No annotation					
860	10021369	3	In colon carcinoma cells, loss of APC leads to the accumulation of betacatenin in the nucleus, where it binds to and activates the Tcf-4 transcription factor reviewed in 1 2.	4	18	15	colon carcinoma	textual	C0699790	Colon Carcinoma			
863	10021369	6	Like APC, APC2 regulates the formation of active betacatenin-Tcf complexes, as demonstrated using transient transcriptional activation assays in APC -/- colon carcinoma cells.	154	168	15	colon carcinoma	textual	C0699790	Colon Carcinoma			
864	10021369	7	Human APC2 maps to chromosome 19p13.3.					No annotation					
865	10021369	8	APC and APC2 may therefore have comparable functions in development and cancer..	73	78	6	cancer	textual - yields annotated codes, however, also yields 2 others	C0006826,C1306459 	Malignant Neoplasms, Primary malignant neoplasm			
866	10051005	1	The frequency, origin, and phenotypic expression of a germline MSH2 gene mutation previously identified in seven kindreds with hereditary non-polyposis cancer syndrome (HNPCC) was investigated.	170	174	5	HNPCC	textual - yields correct UMLS code, however, also yields 4 others	C0009405	Hereditary Nonpolyposis Colorectal Neoplasms	[ C1333990 ] Hereditary Non-Polyposis Colon Cancer Type 1		
866	10051005	1	The frequency, origin, and phenotypic expression of a germline MSH2 gene mutation previously identified in seven kindreds with hereditary non-polyposis cancer syndrome (HNPCC) was investigated.	128	167	40	hereditary non-polyposis cancer syndrome	intuitive: Reading the abstract shows that they are talking about colorectal cancer	C0009405	Hereditary Nonpolyposis Colorectal Neoplasms	[ C1333990 ] Hereditary Non-Polyposis Colon Cancer Type 1		
867	10051005	10	For both sexes combined, the penetrances at age 60 years for all cancers and for colorectal cancer were 0.86 and 0.57, respectively.	66	72	7	cancers	intuitive: cancers was in reference to colorectal, ovarian and endometrial cancer in the abstract	C1140680, C0029925	Malignant neoplasm of ovary, Ovarian Carcinoma  			
867	10051005	10	For both sexes combined, the penetrances at age 60 years for all cancers and for colorectal cancer were 0.86 and 0.57, respectively.	66	72	7	cancers	intuitive: cancers was in reference to colorectal, ovarian and endometrial cancer in the abstract	C0009402, C1527249	Carcinoma of the Large Intestine, Colorectal Cancer			
867	10051005	10	For both sexes combined, the penetrances at age 60 years for all cancers and for colorectal cancer were 0.86 and 0.57, respectively.	66	72	7	cancers	intuitive: cancers was in reference to colorectal, ovarian and endometrial cancer in the abstract	C0476089, C1883486	Endometrial Carcinoma, Uterine Corpus Cancer			
867	10051005	10	For both sexes combined, the penetrances at age 60 years for all cancers and for colorectal cancer were 0.86 and 0.57, respectively.	82	98	17	colorectal cancer	textual	C0009402, C1527249	Carcinoma of the Large Intestine, Colorectal Cancer			
868	10051005	11	The risk of colorectal cancer was significantly higher (p<0.01) in males than females 0.63 v 0.30 and 0.84 v 0.44 at ages 50 and 60 years, respectively.	13	29	17	colorectal cancer	textual	C0009402, C1527249	Carcinoma of the Large Intestine, Colorectal Cancer			
869	10051005	12	For females there was a high risk of endometrial cancer (0.5 at age 60 years) and premenopausal ovarian cancer 0.2 at 50 years.	38	55	18	endometrial cancer	textual	C0476089, C1883486	Endometrial Carcinoma, Uterine Corpus Cancer			
869	10051005	12	For females there was a high risk of endometrial cancer (0.5 at age 60 years) and premenopausal ovarian cancer 0.2 at 50 years.	97	110	14	ovarian cancer	textual	C1140680, C0029925	Malignant neoplasm of ovary, Ovarian Carcinoma			
870	10051005	13	These intersex differences in colorectal cancer risks have implications for screening programmes and for attempts to identify colorectal cancer susceptibility modifiers..	31	47	17	colorectal cancer	textual	C0009402, C1527249	Carcinoma of the Large Intestine, Colorectal Cancer			
871	10051005	2	The mutation (A-->T at nt943+3) disrupts the 3' splice site of exon 5 leading to the deletion of this exon from MSH2 mRNA and represents the only frequent MSH2 mutation so far reported.					No annotation					
872	10051005	3	Although this mutation was initially detected in four of 33 colorectal cancer families analysed from eastern England, more extensive analysis has reduced the frequency to four of 52 (8%) English HNPCC kindreds analysed.	196	200	5	HNPCC	intuitive -defined in abstract as hereditary non-polyposis cancer syndrome, yields correct UMLS code, however, also yields 4 others	C0009405	Hereditary Nonpolyposis Colorectal Neoplasms	[ C1333990 ] Hereditary Non-Polyposis Colon Cancer Type 1		
872	10051005	3	Although this mutation was initially detected in four of 33 colorectal cancer families analysed from eastern England, more extensive analysis has reduced the frequency to four of 52 (8%) English HNPCC kindreds analysed.	61	77	17	colorectal cancer	textual	C0009402, C1527249	Carcinoma of the Large Intestine, Colorectal Cancer			
873	10051005	4	In contrast, the MSH2 mutation was identified in 10 of 20 (50%) separately identified colorectal families from Newfoundland.	87	96	10	colorectal	intuitive: in the abstract, "colorectal" is in reference to colorectal cancer	C0009402, C1527249	Carcinoma of the Large Intestine, Colorectal Cancer			
874	10051005	5	To investigate the origin of this mutation in colorectal cancer families from England (n=4), Newfoundland (n=10), and the United States (n=3), haplotype analysis using microsatellite markers linked to MSH2 was performed.	47	63	17	colorectal cancer	textual	C0009402, C1527249	Carcinoma of the Large Intestine, Colorectal Cancer			
875	10051005	6	Within the English and US families there was little evidence for a recent common origin of the MSH2 splice site mutation in most families.					No annotation					
876	10051005	7	In contrast, a common haplotype was identified at the two flanking markers (CA5 and D2S288) in eight of the Newfoundland families.					No annotation					
877	10051005	8	These findings suggested a founder effect within Newfoundland similar to that reported by others for two MLH1 mutations in Finnish HNPCC families.	132	136	5	HNPCC	intuitive -defined in abstract as hereditary non-polyposis cancer syndrome, yields correct UMLS code, however, also yields 4 others	C0009405	Hereditary Nonpolyposis Colorectal Neoplasms	[ C1333990 ] Hereditary Non-Polyposis Colon Cancer Type 1		
878	10051007	2	Apolipoprotein E (APOE) genotype, in turn, is known to influence AO in Alzheimer disease, rendering the APOE gene a likely candidate to affect AO in other neurological diseases too.	72	88	17	Alzheimer disease	textual	C0002395	Alzheimer`s Disease			
878	10051007	2	Apolipoprotein E (APOE) genotype, in turn, is known to influence AO in Alzheimer disease, rendering the APOE gene a likely candidate to affect AO in other neurological diseases too.	156	176	21	neurological diseases	textual	C0027765	nervous system disorder			
879	10051007	3	We therefore determined APOE genotype and normal CAG repeat length in the HD gene for 138 HD patients who were previously analysed with respect to CAG repeat length.	91	92	2	HD	intuitive - abstract defines HD as "Huntington Disease", yields correct code, however, also yields 4 others	C0020179	Huntington Disease			
880	10051007	4	Genotyping for APOE was performed blind to clinical information.					No annotation					
881	10051007	5	In addition to highlighting the effect of the normal repeat length upon AO in maternally inherited HD and in male patients, we show that the APOE epsilon2epsilon3 genotype is associated with significantly earlier AO in males than in females.	100	101	2	HD	intuitive - abstract defines HD as "Huntington Disease", yields correct code, however, also yields 4 others	C0020179	Huntington Disease			
882	10051007	6	Such a sex difference in AO was not apparent for any of the other APOE genotypes.					No annotation					
883	10051007	7	Our findings suggest that subtle differences in the course of the neurodegeneration in HD may allow interacting genes to exert gender specific effects upon AO..	88	89	2	HD	intuitive - abstract defines HD as "Huntington Disease", yields correct code, however, also yields 4 others	C0020179	Huntington Disease			
883	10051007	7	Our findings suggest that subtle differences in the course of the neurodegeneration in HD may allow interacting genes to exert gender specific effects upon AO..	67	83	17	neurodegeneration	textual	C0027746	Nerve Degeneration			
884	100562	1	The serum of a 29-year old woman with a recent episode of disseminated gonococcal infection and a history of meningococcal meningitis and arthritis as a child was found to lack serum hemolytic complement activity.	59	91	33	disseminated gonococcal infection	textual	C0744451 	GONOCOCCAL INFECTION DISSEMINATED			
884	100562	1	The serum of a 29-year old woman with a recent episode of disseminated gonococcal infection and a history of meningococcal meningitis and arthritis as a child was found to lack serum hemolytic complement activity.	110	133	24	meningococcal meningitis	textual	C0025294	Meningococcal meningitis			
884	100562	1	The serum of a 29-year old woman with a recent episode of disseminated gonococcal infection and a history of meningococcal meningitis and arthritis as a child was found to lack serum hemolytic complement activity.	139	147	9	arthritis	textual	C0003864	Arthritis			
885	100562	2	The seventh component of complement (C7) was not detected by functional or immunochemical assays, whereas other components were normal by hemolytic and immunochemical assessment.					No annotation					
886	100562	3	Her fresh serum lacked complement-mediated bactericidal activity against Neisseria gonorrhoeae, but the addition of fresh normal serum or purified C7 restored bactericidal activity as well as hemolytic activity.	74	94	21	Neisseria gonorrhoeae	textual	C0027573	Neisseria gonorrhoeae			
887	100562	4	The absence of functional C7 activity could not be accounted for on the basis of an inhibitor.					No annotation					
888	100562	5	Opsonization and generation of chemotactic activity functioned normally.					No annotation					
889	100562	6	Complete absence of C7 was also found in one sibling who had the clinical syndrome of meningococcal meningitis and arthritis as a child and in this sibling's clinically well eight-year-old son.	87	110	24	meningococcal meningitis	textual	C0025294	Meningococcal meningitis			
889	100562	6	Complete absence of C7 was also found in one sibling who had the clinical syndrome of meningococcal meningitis and arthritis as a child and in this sibling's clinically well eight-year-old son.	116	124	9	arthritis	textual	C0003864	Arthritis			
890	10064668	2	This study was carried out to further evaluate this risk among patients with CHH and their first-degree relatives.	78	80	3	CHH	intuitive - abstract defines CHH as "cartilage-hair hypoplasia", a query of yields annotated  UMLS code, however, it also yields 1 other	C0220748	Metaphyseal chondrodysplasia, McKusick type			
891	10064668	3	STUDY DESIGN: One hundred twenty-two patients with CHH were identified through 2 countrywide epidemiologic surveys in 1974 and in 1986.					No annotation					
892	10064668	4	Their parents and nonaffected siblings were identified through the Population Register Center.					No annotation					
893	10064668	5	This cohort underwent follow-up for cancer incidence through the Finnish Cancer Registry to the end of 1995.	37	42	6	cancer	textual - yields annotated UMLS codes, however, also yields 2 others	C0006826, C1306459 	Malignant Neoplasms, Primary malignant neoplasm			
894	10064668	6	RESULTS: A statistically significant excess risk of cancer was seen among the patients with CHH (standardized incidence ratio 6.9, 95% confidence interval 2.3 to 16), which was mainly attributable to non-Hodgkin's lymphoma standardized incidence ratio 90, 95% confidence interval 18 to 264.	93	95	3	CHH	intuitive: abstract defines CHH as  "cartilage-hair hypoplasia".  Yields annotated UMLS code, however, also yields 1 other	C0220748	Metaphyseal chondrodysplasia, McKusick type			
894	10064668	6	RESULTS: A statistically significant excess risk of cancer was seen among the patients with CHH (standardized incidence ratio 6.9, 95% confidence interval 2.3 to 16), which was mainly attributable to non-Hodgkin's lymphoma standardized incidence ratio 90, 95% confidence interval 18 to 264.	53	58	6	cancer	textual - yields annotated UMLS codes, however, also yields 2 others	C0006826, C1306459 	Malignant Neoplasms, Primary malignant neoplasm			
894	10064668	6	RESULTS: A statistically significant excess risk of cancer was seen among the patients with CHH (standardized incidence ratio 6.9, 95% confidence interval 2.3 to 16), which was mainly attributable to non-Hodgkin's lymphoma standardized incidence ratio 90, 95% confidence interval 18 to 264.	201	222	22	non-Hodgkin's lymphoma	textual	C0024305	Lymphoma, Non-Hodgkin`s			
895	10064668	7	In addition, a significant excess risk of basal cell carcinoma was seen standardized incidence ratio 35, 95% confidence interval 7.2 to 102.	43	62	20	basal cell carcinoma	textual - yields annotated code, however, also yields 1 other	C0007117	Basal cell carcinoma			
896	10064668	8	The cancer incidence among the siblings or the parents did not differ from the average cancer incidence in the Finnish population.	5	10	6	cancer	textual - yields annotated UMLS codes, however, also yields 2 others	C0006826, C1306459 	Malignant Neoplasms, Primary malignant neoplasm			
897	10064668	9	CONCLUSIONS: This study confirms an increased risk of cancer, especially non-Hodgkin's lymphoma, probably attributable to defective immunity, among patients with CHH..	163	165	3	CHH	intuitive: abstract defines CHH as  "cartilage-hair hypoplasia".  Yields annotated UMLS code, however, also yields 1 other	C0220748	Metaphyseal chondrodysplasia, McKusick type			
897	10064668	9	CONCLUSIONS: This study confirms an increased risk of cancer, especially non-Hodgkin's lymphoma, probably attributable to defective immunity, among patients with CHH..	55	60	6	cancer	textual - yields annotated UMLS codes, however, also yields 2 others	C0006826, C1306459 	Malignant Neoplasms, Primary malignant neoplasm			
897	10064668	9	CONCLUSIONS: This study confirms an increased risk of cancer, especially non-Hodgkin's lymphoma, probably attributable to defective immunity, among patients with CHH..	74	95	22	non-Hodgkin's lymphoma	textual	C0024305	Lymphoma, Non-Hodgkin`s			
898	10071185	1	Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disease characterised by thymine-uraciluria in homozygous deficient patients and has been associated with a variable clinical phenotype.	1	48	48	Dihydropyrimidine dehydrogenase (DPD) deficiency	textual - a query of Dihydropyrimidine dehydrogenase deficiency yields annotated codes, however, also yields 1 other 	C1959620	Dihydropyrimidine Dehydrogenase Deficiency	Dihydrouracil dehydrogenase (NADP^+^) deficiency [C0268132]		
898	10071185	1	Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disease characterised by thymine-uraciluria in homozygous deficient patients and has been associated with a variable clinical phenotype.	33	48	16	(DPD) deficiency	textual - yields the alternative code, however, also yields 1 other	C1959620	Dihydropyrimidine Dehydrogenase Deficiency	Dihydrouracil dehydrogenase (NADP^+^) deficiency [C0268132]		
898	10071185	1	Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disease characterised by thymine-uraciluria in homozygous deficient patients and has been associated with a variable clinical phenotype.	101	118	18	thymine-uraciluria	textual - does not yield annotated code, however it does yield 2 codes that could be alternatives for annotated code	C1959620	Dihydropyrimidine Dehydrogenase Deficiency	DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, 165-BP DEL, IVS14, G-A, +1 [C1868691] Dihydrouracil dehydrogenase (NADP^+^) deficiency [C0268132]		
899	10071185	2	In order to understand the genetic and phenotypic basis for DPD deficiency, we have reviewed 17 families presenting 22 patients with complete deficiency of DPD.	61	74	14	DPD deficiency	intuitive - abstract defines DPD as "Dihydropyrimidine dehydrogenase" yields the alternative code, however, also yields 1 other	C1959620	Dihydropyrimidine Dehydrogenase Deficiency	Dihydrouracil dehydrogenase (NADP^+^) deficiency [C0268132]		
900	10071185	3	In this group of patients, 7 different mutations have been identified, including 2 deletions 295-298delTCAT, 1897delC , 1 splice-site mutation IVS14+1G>A and 4 missense mutations 85T>C, 703C>T, 2658G>A, 2983G>T.					No annotation					
901	10071185	4	Analysis of the prevalence of the various mutations among DPD patients has shown that the G-->A point mutation in the invariant splice donor site is by far the most common (52%), whereas the other six mutations are less frequently observed.					No annotation					
902	10071185	5	A large phenotypic variability has been observed, with convulsive disorders, motor retardation and mental retardation being the most abundant manifestations.	56	75	20	convulsive disorders	textual	C0234972	Convulsive disorder			
902	10071185	5	A large phenotypic variability has been observed, with convulsive disorders, motor retardation and mental retardation being the most abundant manifestations.	78	94	17	motor retardation	textual	C0424230	Motor retardation			
902	10071185	5	A large phenotypic variability has been observed, with convulsive disorders, motor retardation and mental retardation being the most abundant manifestations.	100	117	18	mental retardation	textual	C0025362	Mental Retardation			
903	10071185	6	A clear correlation between the genotype and phenotype has not been established.					No annotation					
904	10071185	7	An altered beta-alanine, uracil and thymine homeostasis might underlie the various clinical abnormalities encountered in patients with DPD deficiency..	136	149	14	DPD deficiency	intuitive - abstract defines DPD as "Dihydropyrimidine dehydrogenase" yields the alternative code, however, also yields 1 other	C1959620	Dihydropyrimidine Dehydrogenase Deficiency	Dihydrouracil dehydrogenase (NADP^+^) deficiency [C0268132]		
905	10071193	1	Borjeson-Forssman-Lehmann syndrome (BFLS) is a syndromal X-linked mental retardation, which maps by linkage to the q26 region of the human X chromosome.	37	40	4	BFLS	textual - yields annotated code, however, also yields 2 others	C0265339	Borjeson-Forssman-Lehmann syndrome			
905	10071193	1	Borjeson-Forssman-Lehmann syndrome (BFLS) is a syndromal X-linked mental retardation, which maps by linkage to the q26 region of the human X chromosome.	1	34	34	Borjeson-Forssman-Lehmann syndrome	textual - yields annotated code, however, also yields UMLS code for BFLS gene	C0265339	Borjeson-Forssman-Lehmann syndrome			
905	10071193	1	Borjeson-Forssman-Lehmann syndrome (BFLS) is a syndromal X-linked mental retardation, which maps by linkage to the q26 region of the human X chromosome.	67	84	18	mental retardation	textual	C0025362	Mental Retardation			
906	10071193	2	We have identified a male patient with BFLS-like features and a duplication, 46,Y,dup X (q26q28), inherited from his phenotypically normal mother.	40	43	4	BFLS	intuitive - the abstract defines BFLS as "Borjeson-Forssman-Lehmann syndrome"  yields annotated code, however, also yields 2 others	C0265339	Borjeson-Forssman-Lehmann syndrome			
907	10071193	3	Fluorescence in situ hybridisation using yeast artificial chromosome clones from Xq26 localised the duplication breakpoint to an approximately 400-kb interval in the Xq26.3 region between DXS155 and DXS294/DXS730.					No annotation					
908	10071193	4	Database searches and analysis of available genomic DNA sequence from the region revealed the presence of the fibroblast growth factor homologous factor gene, FHF2, within the duplication breakpoint interval.					No annotation					
909	10071193	5	The gene structure of FHF2 was determined and two new exons were identified, including a new 5' end exon, 1B.					No annotation					
910	10071193	6	FHF2 is a large gene extending over approximately 200 kb in Xq26.3 and is composed of at least seven exons.					No annotation					
911	10071193	7	It shows tissue-specific alternative splicing and alternative transcription starts.					No annotation					
912	10071193	8	Northern blot hybridisation showed highest expression in brain and skeletal muscle.					No annotation					
913	10071193	9	The FHF2 gene localisation and tissue-specific expression pattern suggest it to be a candidate gene for familial cases of the BFLS syndrome and other syndromal and non-specific forms of X-linked mental retardation mapping to the region..	127	130	4	BFLS	intuitive - the abstract defines BFLS as "Borjeson-Forssman-Lehmann syndrome"  yields annotated code, however, also yields 2 others	C0265339	Borjeson-Forssman-Lehmann syndrome			
913	10071193	9	The FHF2 gene localisation and tissue-specific expression pattern suggest it to be a candidate gene for familial cases of the BFLS syndrome and other syndromal and non-specific forms of X-linked mental retardation mapping to the region..	196	213	18	mental retardation	textual	C0025362	Mental Retardation			
914	10072428	1	Inherited mutations in the E-cadherin gene ( CDH1 ) were described recently in three Maori kindreds with familial gastric cancer.	115	128	14	gastric cancer	textual	C0024623, C0699791	Malignant neoplasm of stomach, Stomach Carcinoma			
915	10072428	10	Loss of E-cadherin function has been implicated in the pathogenesis of sporadic colorectal and other cancers, and our findings provide evidence that germline CDH1 mutations predispose to early onset colorectal cancer.	81	108	28	colorectal and other cancers	intuitive: list is present, a query of "colorectal cancers" yields annotated codes	C0009402, C1527249	Carcinoma of the Large Intestine, Colorectal Cancer			
915	10072428	10	Loss of E-cadherin function has been implicated in the pathogenesis of sporadic colorectal and other cancers, and our findings provide evidence that germline CDH1 mutations predispose to early onset colorectal cancer.	102	108	7	cancers	textual - yields annotated UMLS codes, however, also yields 2 others	C0006826, C1306459 	Malignant Neoplasms, Primary malignant neoplasm			
915	10072428	10	Loss of E-cadherin function has been implicated in the pathogenesis of sporadic colorectal and other cancers, and our findings provide evidence that germline CDH1 mutations predispose to early onset colorectal cancer.	200	216	17	colorectal cancer	textual	C0009402, C1527249	Carcinoma of the Large Intestine, Colorectal Cancer			
916	10072428	11	Thus, CDH1 should be investigated as a cause of inherited susceptibility to both gastric and colorectal cancers..	82	111	30	gastric and colorectal cancers	intuitive: list is present, a query of "gastric cancers" yields annotated codes	C0024623, C0699791	Malignant neoplasm of stomach, Stomach Carcinoma			
916	10072428	11	Thus, CDH1 should be investigated as a cause of inherited susceptibility to both gastric and colorectal cancers..	94	111	18	colorectal cancers	textual	C0009402, C1527249	Carcinoma of the Large Intestine, Colorectal Cancer			
917	10072428	4	Each family contained: (i) two cases of gastric cancer in first degree relatives with one affected before age 50 years; or (ii) three or more cases of gastric cancer.	41	54	14	gastric cancer	textual	C0024623, C0699791	Malignant neoplasm of stomach, Stomach Carcinoma			
918	10072428	5	Novel germline CDH1 mutations (a nonsense and a splice site) were detected in two families 25%.					No annotation					
919	10072428	6	Both mutations were predicted to truncate the E-cadherin protein in the signal peptide domain.					No annotation					
920	10072428	7	In one family there was evidence of non-penetrance and susceptibility to both gastric and colorectal cancer; thus, in addition to six cases of gastric cancer, a CDH1 mutation carrier developed colorectal cancer at age 30 years.	79	107	29	gastric and colorectal cancer	intuitive: list is present, a query of "gastric cancers" yields annotated codes	C0024623, C0699791	Malignant neoplasm of stomach, Stomach Carcinoma			
920	10072428	7	In one family there was evidence of non-penetrance and susceptibility to both gastric and colorectal cancer; thus, in addition to six cases of gastric cancer, a CDH1 mutation carrier developed colorectal cancer at age 30 years.	91	107	17	colorectal cancer	textual	C0009402, C1527249	Carcinoma of the Large Intestine, Colorectal Cancer			
920	10072428	7	In one family there was evidence of non-penetrance and susceptibility to both gastric and colorectal cancer; thus, in addition to six cases of gastric cancer, a CDH1 mutation carrier developed colorectal cancer at age 30 years.	144	157	14	gastric cancer	textual	C0024623, C0699791	Malignant neoplasm of stomach, Stomach Carcinoma			
921	10077614	1	The Wilms tumor-suppressor gene, WT1, plays a key role in urogenital development, and WT1 dysfunction is implicated in both neoplastic (Wilms tumor, mesothelioma, leukemias, and breast cancer) and nonneoplastic (glomerulosclerosis) disease.	5	15	11	Wilms tumor	textual	C0027708	Nephroblastoma			
921	10077614	1	The Wilms tumor-suppressor gene, WT1, plays a key role in urogenital development, and WT1 dysfunction is implicated in both neoplastic (Wilms tumor, mesothelioma, leukemias, and breast cancer) and nonneoplastic (glomerulosclerosis) disease.	125	239	115	neoplastic (Wilms tumor, mesothelioma, leukemias, and breast cancer) and nonneoplastic (glomerulosclerosis) disease	intuitive - list is present, along with parentheses breaking up the sentence. A query of "neoplastic disease"  yields annotated code	C0027651	Neoplasms			
921	10077614	1	The Wilms tumor-suppressor gene, WT1, plays a key role in urogenital development, and WT1 dysfunction is implicated in both neoplastic (Wilms tumor, mesothelioma, leukemias, and breast cancer) and nonneoplastic (glomerulosclerosis) disease.	150	161	12	mesothelioma	textual	C0025500	Mesothelioma			
921	10077614	1	The Wilms tumor-suppressor gene, WT1, plays a key role in urogenital development, and WT1 dysfunction is implicated in both neoplastic (Wilms tumor, mesothelioma, leukemias, and breast cancer) and nonneoplastic (glomerulosclerosis) disease.	164	172	9	leukemias	textual	C0023418	leukemia			
921	10077614	1	The Wilms tumor-suppressor gene, WT1, plays a key role in urogenital development, and WT1 dysfunction is implicated in both neoplastic (Wilms tumor, mesothelioma, leukemias, and breast cancer) and nonneoplastic (glomerulosclerosis) disease.	179	191	13	breast cancer	textual	C0678222, C0006142	Breast Carcinoma, Malignant neoplasm of breast			
921	10077614	1	The Wilms tumor-suppressor gene, WT1, plays a key role in urogenital development, and WT1 dysfunction is implicated in both neoplastic (Wilms tumor, mesothelioma, leukemias, and breast cancer) and nonneoplastic (glomerulosclerosis) disease.	198	239	42	nonneoplastic (glomerulosclerosis) disease	intuitive - parentheses break up the mention, a query of "nonneoplastic disease" yields annotated code	C1709246	Non-Neoplastic Disorder			
921	10077614	1	The Wilms tumor-suppressor gene, WT1, plays a key role in urogenital development, and WT1 dysfunction is implicated in both neoplastic (Wilms tumor, mesothelioma, leukemias, and breast cancer) and nonneoplastic (glomerulosclerosis) disease.	213	230	18	glomerulosclerosis	textual	C0178664	Glomerulosclerosis			
922	10077614	5	We report that heterozygosity for a targeted murine Wt1 allele, Wt1(tmT396), which truncates ZF3 at codon 396, induces mesangial sclerosis characteristic of DDS in adult heterozygous and chimeric mice.	158	160	3	DDS	intuitive - abstract defines DDS as "Denys-Drash syndrome".  A query of "DDS" does not yield annotated code.	C0950121	Denys-Drash Syndrome			
922	10077614	5	We report that heterozygosity for a targeted murine Wt1 allele, Wt1(tmT396), which truncates ZF3 at codon 396, induces mesangial sclerosis characteristic of DDS in adult heterozygous and chimeric mice.	120	138	19	mesangial sclerosis	textual	C1863240	Mesangial sclerosis			
923	10077614	6	Male genital defects also were evident and there was a single case of Wilms tumor in which the transcript of the nontargeted allele showed an exon 9 skipping event, implying a causal link between Wt1 dysfunction and Wilms tumorigenesis in mice.	71	81	11	Wilms tumor	textual	C0027708	Nephroblastoma			
924	10077614	7	However, the mutant WT1(tmT396) protein accounted for only 5% of WT1 in both heterozygous embryonic stem cells and the WT.	120	121	2	WT	intuitive - abstract defines WT as "Wilms tumor", does not yield annotated code	C0027708	Nephroblastoma			
925	10077614	8	This has implications regarding the mechanism by which the mutant allele exerts its effect..					No annotation					
926	10077651	1	Hereditary hemochromatosis (HH) is a common autosomal recessive disorder characterized by tissue iron deposition secondary to excessive dietary iron absorption.	29	30	2	HH	textual - does not yield annotated code	C0392514	Hereditary hemochromatosis			
926	10077651	1	Hereditary hemochromatosis (HH) is a common autosomal recessive disorder characterized by tissue iron deposition secondary to excessive dietary iron absorption.	1	26	26	Hereditary hemochromatosis	Hereditary hemochromatosis	C0392514	Hereditary hemochromatosis			
927	10077651	2	We recently reported that HFE, the protein defective in HH, was physically associated with the transferrin receptor (TfR) in duodenal crypt cells and proposed that mutations in HFE attenuate the uptake of transferrin-bound iron from plasma by duodenal crypt cells, leading to up-regulation of transporters for dietary iron.	57	58	2	HH	intuitive - abstract defines HH as "Hereditary hemochromatosis", a query of HH does not yield annotated code  	C0392514	Hereditary hemochromatosis			
928	10077651	3	Here, we tested the hypothesis that HFE-/- mice have increased duodenal expression of the divalent metal transporter DMT1.					No annotation					
929	10077651	4	By 4 weeks of age, the HFE-/- mice demonstrated iron loading when compared with HFE+/+ littermates, with elevated transferrin saturations (68.4% vs. 49.8%) and elevated liver iron concentrations 985 micrograms vs. 381 micrograms.					No annotation					
930	10077651	5	By using Northern blot analyses, we quantitated duodenal expression of both classes of DMT1 transcripts: one containing an iron responsive element (IRE), called DMT1(IRE), and one containing no IRE, called DMT1 non-IRE.					No annotation					
931	10077651	6	The positive control for DMT1 up-regulation was a murine model of dietary iron deficiency that demonstrated greatly increased levels of duodenal DMT1(IRE) mRNA.					No annotation					
932	10077651	7	HFE-/- mice also demonstrated an increase in duodenal DMT1(IRE) mRNA (average 7.7-fold), despite their elevated transferrin saturation and hepatic iron content.					No annotation					
933	10077651	8	Duodenal expression of DMT1(non-IRE) was not increased, nor was hepatic expression of DMT1 increased.					No annotation					
934	10077651	9	These data support the model for HH in which HFE mutations lead to inappropriately low crypt cell iron, with resultant stabilization of DMT1(IRE) mRNA, up-regulation of DMT1, and increased absorption of dietary iron..					No annotation					
935	10078732	1	OBJECTIVE: To monitor the effects of dietary treatment in adult-onset adrenoleukodystrophy (ALD) by means of somatosensory evoked potentials (SEPs) and motor evoked potentials MEPs.	93	95	3	ALD	textual - yields annotated code, however, also yields 1 other	C0162309	Adrenoleukodystrophy			
935	10078732	1	OBJECTIVE: To monitor the effects of dietary treatment in adult-onset adrenoleukodystrophy (ALD) by means of somatosensory evoked potentials (SEPs) and motor evoked potentials MEPs.	71	90	20	adrenoleukodystrophy	textual - yields annotated code, however, also yields 1 other	C0162309	Adrenoleukodystrophy			
936	10078732	10	However, because effective treatments should begin before the onset of severe neurologic symptoms, SEPs and MEPs should be considered to evaluate the effectiveness of other experimental treatments in the patient with a negative brain MRI..	79	97	19	neurologic symptoms	textual	C0235031	Neurologic Symptoms			
937	10078732	2	BACKGROUND: SEPs and MEPs have proved useful in revealing signs of progressively severe, central dying-back axonopathy in early stages of adult-onset ALD.	151	153	3	ALD	intuitive - abstact defines ALD as  "adrenoleukodystrophy "  A query of ALD yields the annotated code, however, also yields 1 other	C0162309	Adrenoleukodystrophy			
938	10078732	3	METHODS: Eight patients with adult-onset ALD underwent clinical examination, brain and spine MRI, and SEP and MEP studies before and after 3 years of Lorenzo's oil dietary therapy.	42	44	3	ALD	intuitive - abstact defines ALD as  "adrenoleukodystrophy "  A query of ALD yields the annotated code, however, also yields 1 other	C0162309	Adrenoleukodystrophy			
939	10078732	4	RESULTS: Before treatment, brain MRI was normal in five patients.					No annotation					
940	10078732	5	Three of these patients had pure spinal SEP abnormalities and in the remaining two patients SEPs showed signs of involvement of both the spinal and cerebral somatosensory tracts.					No annotation					
941	10078732	6	After treatment, the three patients with pure spinal abnormalities showed clinical and neurophysiologic worsening, whereas the two patients with a more advanced stage of disease (exhibited by SEPs) showed substantially unchanged clinical and neurophysiologic features.					No annotation					
942	10078732	7	The patients with abnormal brain MRI at the onset of treatment showed clinical and neurophysiologic worsening.					No annotation					
943	10078732	8	CONCLUSIONS: Lorenzo's oil therapy had no effect on patients with evidence of inflammatory brain lesions.	92	104	13	brain lesions	textual	C0221505	Lesion of brain			
944	10078732	9	Moreover, in patients without clear signs of inflammatory damage, this treatment does not modify significantly the natural course of the disease.	138	144	7	disease	intuitive - disease is referring to adrenoleukodystrophy in the abstract	C0162309	Adrenoleukodystrophy			
945	10078749	1	The authors report a mutation in exon 5 of GCH1 in a patient with adult-onset oromandibular dystonia and no obvious family history of dystonia.	93	100	8	dystonia	textual - yields annotated code and 1 possible alternative/synonym	C0013421	Dystonia	Dystonic Disorder [C0393593]		
946	10078749	2	The patient responded positively to treatment with L-dopa.					No annotation					
947	10083733	1	We extensively analyzed genomic DNA and messenger RNA (mRNA) from 62 unrelated Korean patients with familial adenomatous polyposis (FAP) for identification of germline adenomatous polyposis coli (APC) gene mutations.	133	135	3	FAP	textual - yields annotated code, however, also yields 6 others	C0032580	Adenomatous Polyposis Coli			
947	10083733	1	We extensively analyzed genomic DNA and messenger RNA (mRNA) from 62 unrelated Korean patients with familial adenomatous polyposis (FAP) for identification of germline adenomatous polyposis coli (APC) gene mutations.	101	130	30	familial adenomatous polyposis	textual - yields annotated code, however, also yields 1 other	C0032580	Adenomatous Polyposis Coli			
947	10083733	1	We extensively analyzed genomic DNA and messenger RNA (mRNA) from 62 unrelated Korean patients with familial adenomatous polyposis (FAP) for identification of germline adenomatous polyposis coli (APC) gene mutations.	169	194	26	adenomatous polyposis coli	textual	C0032580	Adenomatous Polyposis Coli			
948	10083733	2	We adopted both single-strand conformation polymorphism (SSCP) analysis and a method of analysis involving the reverse transcription-polymerase chain reaction (RT-PCR) followed by a protein truncation test PTT.					No annotation					
949	10083733	3	DNA sequencing confirmed all alterations represented by aberrant bands.					No annotation					
950	10083733	4	Germline mutations were identified in 38 patients 61%.					No annotation					
951	10083733	5	Nineteen of the detected mutations were presumed to be novel, thus emphasizing the heterogeneity of the mutational spectrum in Korean FAP patients.	135	137	3	FAP	intuitive - abstract defines FAP as "familial adenomatous polyposis".  A query of FAP yields the annotated code, however, also yields 6 others	C0032580	Adenomatous Polyposis Coli			
952	10083733	6	In the initial 48 patients, SSCP analysis was followed by PTT for those patients for whom no detectable mutations were found by SSCP.					No annotation					
953	10083733	7	Using this combined approach, we identified germline APC gene mutations in 29 of the 48 FAP patients (60%), including 6 patients in whom SSCP analysis failed to distinguish the mutant allele.	89	91	3	FAP	intuitive - abstract defines FAP as "familial adenomatous polyposis".  A query of FAP yields the annotated code, however, also yields 6 others	C0032580	Adenomatous Polyposis Coli			
954	10083733	8	In the 14 later patients, we identified truncating mutations in 9 patients (64%) using PTT only.					No annotation					
955	10083733	9	Our results confirm that the mutation detection rate with PTT was superior to that with SSCP, and suggest that PTT would be a more practical screening method to detect germline mutations of the APC gene in FAP patients..	207	209	3	FAP	intuitive - abstract defines FAP as "familial adenomatous polyposis".  A query of FAP yields the annotated code, however, also yields 6 others	C0032580	Adenomatous Polyposis Coli			
956	10083734	1	Deficiency of the ninth component of human complement (C9) is the most common complement deficiency in Japan, with an incidence of approximately one homozygote in 1000, but is very rare in other countries.	1	53	53	Deficiency of the ninth component of human complement	intuitive - text is stating a "C9 deficiency"	C1852676	C9 DEFICIENCY			
956	10083734	1	Deficiency of the ninth component of human complement (C9) is the most common complement deficiency in Japan, with an incidence of approximately one homozygote in 1000, but is very rare in other countries.	79	99	21	complement deficiency	textual	C0272242	Complement deficiency disease			
957	10083734	3	To determine the prevalence of heterozygous carriers of the Arg95Stop mutation in a Japanese population, we collected DNA samples from 300 individuals in two of the four main islands of Japan.					No annotation					
958	10083734	4	Heterozygote detection was performed with an allele-specific polymerase chain reaction (PCR) system designed to detect exclusively only one of the normal and mutant alleles, followed by confirmation with PCR/single-strand conformation polymorphism (SSCP) analysis and direct sequencing.					No annotation					
959	10083734	5	Twenty individuals were heterozygous for the Arg95Stop mutation.					No annotation					
960	10083734	7	The prevalence of carriers of the Arg95Stop mutation was 6.7% 20/300.					No annotation					
961	10085150	10	HFE does not remain at the cell surface, but traffics with TfR to Tf-positive internal compartments Gross et al., 1998.					*					
962	10085150	11	Using a HeLa cell line in which the expression of HFE is controlled by tetracycline, we show that the expression of HFE reduces 55Fe uptake from Tf by 33% but does not affect the endocytic or exocytic rates of TfR cycling.					*					
963	10085150	12	Therefore, HFE appears to reduce cellular acquisition of iron from Tf within endocytic compartments.					*					
964	10085150	13	HFE specifically reduces iron uptake from Tf, as non-Tf-mediated iron uptake from Fe-nitrilotriacetic acid is not altered.					*					
965	10085150	14	These results explain the decreased ferritin levels seen in our HeLa cell system and demonstrate the specific control of HFE over the Tf-mediated pathway of iron uptake.					*					
966	10085150	15	These results also have implications for the understanding of cellular iron homeostasis in organs such as the liver, pancreas, heart, and spleen that are iron loaded in hereditary hemochromatotic individuals lacking functional HFE..	170	195	26	hereditary hemochromatotic	intuitive - refers to people with "hereditary hemochromatosis"	C0392514	Hereditary hemochromatosis			
967	10085150	5	Chem. 273, 22068-22074; Feder, J. N., Penny, D. M., Irrinki, A., Lee, V. K., Lebron, J. A., Watson, N. , Tsuchihashi, Z., Sigal, E., Bjorkman, P. J., and Schatzman, R. C. (1998) Proc.					No annotation					
968	10090880	1	Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever with serositis or synovitis.	31	33	3	FMF	textual - yields annotated code, however, also yields 1 other	C0031069	Familial Mediterranean Fever			
968	10090880	1	Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever with serositis or synovitis.	1	28	28	Familial Mediterranean fever	textual	C0031069	Familial Mediterranean Fever			
968	10090880	1	Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever with serositis or synovitis.	24	28	5	fever	textual	C0015967	Fever			
968	10090880	1	Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever with serositis or synovitis.	100	108	9	serositis	textual	C0036749	Serositis			
968	10090880	1	Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever with serositis or synovitis.	113	121	9	synovitis	textual	C0039103	Synovitis			
969	10090880	10	The presence of three frequent MEFV mutations in multiple Mediterranean populations strongly suggests a heterozygote advantage in this geographic region..					*					
970	10090880	2	The FMF gene (MEFV) was cloned recently, and four missense mutations were identified.					*					
971	10090880	3	Here we present data from non-Ashkenazi Jewish and Arab patients in whom we had not originally found mutations and from a new, more ethnically diverse panel.					No annotation					
972	10090880	4	Among 90 symptomatic mutation-positive individuals, 11 mutations accounted for 79% of carrier chromosomes.					No annotation					
973	10090880	5	Of the two mutations that are novel, one alters the same residue (680) as a previously known mutation, and the other (P369S) is located in exon 3.					No annotation					
974	10090880	6	Consistent with another recent report, the E148Q mutation was observed in patients of several ethnicities and on multiple microsatellite haplotypes, but haplotype data indicate an ancestral relationships between non-Jewish Italian and Ashkenazi Jewish patients with FMF and other affected populations.	267	269	3	FMF	intuitive - abstract defines FMF as "Familial Mediterranean fever".  A query of FMF yields annotated code, however, also yields 1 other	C0031069	Familial Mediterranean Fever			
975	10090880	7	Among approximately 200 anonymous Ashkenazi Jewish DNA samples, the MEFV carrier frequency was 21%, with E148Q the most common mutation.					*					
976	10090880	8	Several lines of evidence indicate reduced penetrance among Ashkenazi Jews, especially for E148Q, P369S, and K695R.					No annotation					
977	10090880	9	Nevertheless, E148Q helps account for recessive inheritance in an Ashkenazi family previously reported as an unusual case of dominantly inherited FMF.	147	149	3	FMF	intuitive - abstract defines FMF as "Familial Mediterranean fever".  A query of FMF yields annotated code, however, also yields 1 other	C0031069	Familial Mediterranean Fever			
978	10090885	1	Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of lymphocyte homeostasis and immunological tolerance.	42	45	4	ALPS	textual - yields annotated code, however, also yields 13 others	C1328840	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME			
978	10090885	1	Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of lymphocyte homeostasis and immunological tolerance.	1	39	39	Autoimmune lymphoproliferative syndrome	textual	C1328840	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME			
979	10090885	10	Mutations causing disruption of the intracellular Fas death domain also showed a higher penetrance of ALPS phenotype features in mutation-bearing relatives.	103	106	4	ALPS	intuitive - abstract defines ALPS as "Autoimmune lymphoproliferative syndrome".  A query of ALPS yields annotated code, however, also yields 13 others	C1328840	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME			
980	10090885	11	Significant ALPS-related morbidity occurred in 44% of relatives with intracellular mutations, versus 0% of relatives with extracellular mutations.	13	16	4	ALPS	intuitive - abstract defines ALPS as "Autoimmune lymphoproliferative syndrome".  A query of ALPS yields annotated code, however, also yields 13 others	C1328840	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME			
981	10090885	12	Thus, the location of mutations within APT1 strongly influences the development and the severity of ALPS..	101	104	4	ALPS	intuitive - abstract defines ALPS as "Autoimmune lymphoproliferative syndrome".  A query of ALPS yields annotated code, however, also yields 13 others	C1328840	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME			
984	10090885	4	In vitro, activated lymphocytes from all 17 patients showed apoptotic defects when exposed to an anti-Fas agonist monoclonal antibody.					No annotation					
985	10090885	5	Similar defects were found in a Fas-negative cell line transfected with cDNAs bearing each of the mutations.					No annotation					
986	10090885	6	In cotransfection experiments, Fas constructs with either intra- or extracellular mutations caused dominant inhibition of apoptosis mediated by wild-type Fas.					No annotation					
987	10090885	7	Two missense Fas variants, not restricted to patients with ALPS, were identified.	60	63	4	ALPS	intuitive - abstract defines ALPS as "Autoimmune lymphoproliferative syndrome".  A query of ALPS yields annotated code, however, also yields 13 others	C1328840	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME			
988	10090885	8	Variant A(-1)T at the Fas signal-sequence cleavage site, which mediates apoptosis less well than wild-type Fas and is partially inhibitory, was present in 13% of African American alleles.					No annotation					
989	10090885	9	Among the ALPS-associated Fas mutants, dominant inhibition of apoptosis was much more pronounced in mutants affecting the intracellular, versus extracellular, portion of the Fas receptor.	11	14	4	ALPS	intuitive - abstract defines ALPS as "Autoimmune lymphoproliferative syndrome".  A query of ALPS yields annotated code, however, also yields 13 others	C1328840	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME			
990	10090890	1	Genetic hemochromatosis (GH) is believed to be a disease restricted to those of European ancestry.	26	27	2	GH	intuitive - Was defined as "Genetic hemochromatosis", I believe this would be the same as "hereditary hemochromatosis". A query of "GH" does not yield annotated code.	C0392514	Hereditary hemochromatosis			
990	10090890	1	Genetic hemochromatosis (GH) is believed to be a disease restricted to those of European ancestry.	1	23	23	Genetic hemochromatosis	intuitive - I believe this would be the same as "hereditary hemochromatosis". A query of "Genetic hemochromatosis" does not yield annotated code.	C0392514	Hereditary hemochromatosis			
991	10090890	10	These results suggest that the HFE gene has been the subject of selection pressure.					*					
992	10090890	11	These selection pressures could be due to infectious diseases, environmental conditions, or other genetic disorders such as anemia..	43	61	19	infectious diseases	textual - yields annotated code, however, also yields 1 other	C0009450	Communicable Diseases			
992	10090890	11	These selection pressures could be due to infectious diseases, environmental conditions, or other genetic disorders such as anemia..	99	115	17	genetic disorders	textual	C0019247	Hereditary Diseases			
992	10090890	11	These selection pressures could be due to infectious diseases, environmental conditions, or other genetic disorders such as anemia..	125	130	6	anemia	textual - yields annotated code, however, also yields 1 other	C0002871	Anemia			
993	10090890	2	In northwestern Europe, >80% of GH patients are homozygous for one mutation, the substitution of tyrosine for cysteine at position 282 (C282Y) in the unprocessed protein.	33	34	2	GH	intuitive - Was defined as "Genetic hemochromatosis", I believe this would be the same as "hereditary hemochromatosis". A query of "GH" does not yield annotated code.	C0392514	Hereditary hemochromatosis			
994	10090890	3	In a proportion of GH patients, two mutations are present, C282Y and H63D.	20	21	2	GH	intuitive - Was defined as "Genetic hemochromatosis", I believe this would be the same as "hereditary hemochromatosis". A query of "GH" does not yield annotated code.	C0392514	Hereditary hemochromatosis			
995	10090890	4	The clinical significance of this second mutation is such that it appears to predispose 1%-2% of compound heterozygotes to expression of the disease.	142	148	7	disease	intuitive - Was in reference to "Genetic hemochromatosis", I believe this would be the same as "hereditary hemochromatosis". A query of "Genetic hemochromatosis" does not yield annotated code.	C0392514	Hereditary hemochromatosis			
996	10090890	5	The distribution of the two mutations differ, C282Y being limited to those of northwestern European ancestry and H63D being found at allele frequencies>5%, in Europe, in countries bordering the Mediterranean, in the Middle East, and in the Indian subcontinent.					No annotation					
997	10090890	6	The C282Y mutation occurs on a haplotype that extends </=6 Mb, suggesting that this mutation has arisen during the past 2,000 years.					No annotation					
998	10090890	7	The H63D mutation is older and does not occur on such a large extended haplotype, the haplotype in this case extending </=700 kb.					No annotation					
999	10090890	8	Here we report the finding of the H63D and C282Y mutations on new haplotypes.					No annotation					
1000	10090890	9	In Sri Lanka we have found H63D on three new haplotypes and have found C282Y on one new haplotype, demonstrating that these mutations have arisen independently on this island.					No annotation					
1001	10094552	2	We have found C282Y allele frequencies of 2.3% (+2.0%) (-1.3%) in Greenland, 4.5%+/-1.9% in Iceland, 5.1%+/-2.3% in the Faeroe Islands, and 8.2%+/-2.7% in Denmark.					No annotation					
1002	10094552	3	The high prevalence of HFE mutations in Denmark suggests that population screening for the C282Y mutation could be highly advantageous in terms of preventive health care.					*					
1003	10094552	4	Long-term follow-up evaluation of C282Y homozygotes and H63D/C282Y compound heterozygotes will give an indication of the penetrance of the mutations..					No annotation					
1004	10094559	1	Alkaptonuria (aku), an inborn error of metabolism caused by the loss of homogentisate 1,2-dioxygenase (HGD), has been described in a mouse model created by ethylnitrosourea mutagenesis but the mutation in these mice has not previously been identified.	15	17	3	aku	textual	C0002066	Alkaptonuria			
1004	10094559	1	Alkaptonuria (aku), an inborn error of metabolism caused by the loss of homogentisate 1,2-dioxygenase (HGD), has been described in a mouse model created by ethylnitrosourea mutagenesis but the mutation in these mice has not previously been identified.	1	12	12	Alkaptonuria	textual	C0002066	Alkaptonuria			
1004	10094559	1	Alkaptonuria (aku), an inborn error of metabolism caused by the loss of homogentisate 1,2-dioxygenase (HGD), has been described in a mouse model created by ethylnitrosourea mutagenesis but the mutation in these mice has not previously been identified.	24	49	26	inborn error of metabolism	textual	C0025521	Inborn Errors of Metabolism			
1005	10094559	2	We used RT-PCR to amplify the Hgd cDNA from Hgd aku /Hgd(aku) mice.	49	51	3	aku	intuitive - abstract defined aku as "Alkaptonuria".  A query of aku yields annotated code	C0002066	Alkaptonuria			
1005	10094559	2	We used RT-PCR to amplify the Hgd cDNA from Hgd aku /Hgd(aku) mice.	58	60	3	aku	intuitive - abstract defined aku as "Alkaptonuria".  A query of aku yields annotated code	C0002066	Alkaptonuria			
1006	10094559	3	Two products shorter than the wild-type product were amplified.					No annotation					
1007	10094559	4	Restriction mapping and DNA sequencing were then used to identify the Hgd(aku) mouse mutation, found to be a single base change in a splice donor consensus sequence, causing exon skipping and frame-shifted products.	75	77	3	aku	intuitive - abstract defined aku as "Alkaptonuria".  A query of aku yields annotated code	C0002066	Alkaptonuria			
1008	10094559	5	This base change allowed us to create a non-radioactive genotyping assay for this allele..					No annotation					
1009	10190331	1	Enlarged vestibular aqueduct (EVA), known as the most common form of inner ear abnormality, has recently been of particular genetic interest because this anomaly is inherited in a recessive manner.	31	33	3	EVA	textual - yields annotated code, however also yields 4 others	C1863752	ENLARGED VESTIBULAR AQUEDUCT SYNDROME			
1009	10190331	1	Enlarged vestibular aqueduct (EVA), known as the most common form of inner ear abnormality, has recently been of particular genetic interest because this anomaly is inherited in a recessive manner.	1	28	28	Enlarged vestibular aqueduct	textual	C1863752	ENLARGED VESTIBULAR AQUEDUCT SYNDROME			
1010	10190331	2	The locus for non-syndromic sensorineural hearing loss with EVA has been mapped to the same chromosomal region, 7q31, as the Pendred syndrome locus.	61	63	3	EVA	intuitive - abstract defines EVA as "Enlarged vestibular aqueduct".  A query of EVA yields annotated code, however, also yields 4 others	C1863752	ENLARGED VESTIBULAR AQUEDUCT SYNDROME			
1010	10190331	2	The locus for non-syndromic sensorineural hearing loss with EVA has been mapped to the same chromosomal region, 7q31, as the Pendred syndrome locus.	29	54	26	sensorineural hearing loss	textual	C0018784	Sensorineural Hearing Loss			
1010	10190331	2	The locus for non-syndromic sensorineural hearing loss with EVA has been mapped to the same chromosomal region, 7q31, as the Pendred syndrome locus.	126	141	16	Pendred syndrome	textual	C0271829	Pendred`s syndrome			
1011	10190331	4	One family is homozygous, three families are compound heterozygotes, and two families are heterozygous but with no other mutation detected.					No annotation					
1012	10190331	5	The present results provide evidence that mutations in PDS cause both syndromic and non-syndromic hearing loss..	99	110	12	hearing loss	textual	C1384666	hearing impairment			
1012	10190331	5	The present results provide evidence that mutations in PDS cause both syndromic and non-syndromic hearing loss..					*					
1013	10190819	1	BACKGROUND: X-linked adrenoleukodystrophy (ALD) is an inherited disease characterized by progressive neurologic dysfunction, occasionally associated with adrenal insufficiency.	44	46	3	ALD	textual - yields annotated code, however, also yields 1 other	C0162309	Adrenoleukodystrophy			
1013	10190819	1	BACKGROUND: X-linked adrenoleukodystrophy (ALD) is an inherited disease characterized by progressive neurologic dysfunction, occasionally associated with adrenal insufficiency.	22	41	20	adrenoleukodystrophy	textual - yields annotated code, however, also yields 1 other	C0162309	Adrenoleukodystrophy			
1013	10190819	1	BACKGROUND: X-linked adrenoleukodystrophy (ALD) is an inherited disease characterized by progressive neurologic dysfunction, occasionally associated with adrenal insufficiency.	55	71	17	inherited disease	textual	C0019247	Hereditary Diseases			
1013	10190819	1	BACKGROUND: X-linked adrenoleukodystrophy (ALD) is an inherited disease characterized by progressive neurologic dysfunction, occasionally associated with adrenal insufficiency.	102	123	22	neurologic dysfunction	textual	C0751377	Neurologic Dysfunction			
1013	10190819	1	BACKGROUND: X-linked adrenoleukodystrophy (ALD) is an inherited disease characterized by progressive neurologic dysfunction, occasionally associated with adrenal insufficiency.	155	175	21	adrenal insufficiency	textual  - yields annotated code and 2 possible alternatives	C1963059	Adrenal Insufficiency Adverse Event	Adrenal cortical hypofunction [C0405580], Adrenal gland hypofunction [C0001623] 		
1015	10190819	11	Eighteen (69%) of 26 mutations were missense mutations.					No annotation					
1016	10190819	12	Most missense mutations involved amino acids conserved in homologous gene products, including PMP70, mALDRP, and Pxa1p.					No annotation					
1017	10190819	13	The AG dinucleotide deletion at position 1081-1082, which has been reported previously to be the most common mutation in white patients (12%-17%), was also identified as the most common mutation in Japanese patients 12%.					No annotation					
1018	10190819	14	All phenotypes were associated with mutations resulting in protein truncation or subtle amino acid changes.					No annotation					
1019	10190819	15	There were no differences in phenotypic expressions between missense mutations involving conserved amino acids and those involving nonconserved amino acids.					No annotation					
1020	10190819	16	CONCLUSIONS: There are no obvious correlations between the phenotypes of patients with ALD and their genotypes, suggesting that other genetic or environmental factors modify the phenotypic expressions of ALD..	88	90	3	ALD	intuitive - abstract defines ALD as  "adrenoleukodystrophy". A query of ALD yields annotated code, however, also yields 1 other	C0162309	Adrenoleukodystrophy			
1020	10190819	16	CONCLUSIONS: There are no obvious correlations between the phenotypes of patients with ALD and their genotypes, suggesting that other genetic or environmental factors modify the phenotypic expressions of ALD..	205	207	3	ALD	intuitive - abstract defines ALD as  "adrenoleukodystrophy". A query of ALD yields annotated code, however, also yields 1 other	C0162309	Adrenoleukodystrophy			
1021	10190819	2	The classic form of ALD usually has onset in childhood (childhood cerebral ALD), with rapid neurologic deterioration leading to a vegetative state.	21	23	3	ALD	intuitive - abstract defines ALD as  "adrenoleukodystrophy". A query of ALD yields annotated code, however, also yields 1 other	C0162309	Adrenoleukodystrophy			
1021	10190819	2	The classic form of ALD usually has onset in childhood (childhood cerebral ALD), with rapid neurologic deterioration leading to a vegetative state.	76	78	3	ALD	intuitive - abstract defines ALD as  "adrenoleukodystrophy". A query of ALD yields annotated code, however, also yields 1 other	C0162309	Adrenoleukodystrophy			
1021	10190819	2	The classic form of ALD usually has onset in childhood (childhood cerebral ALD), with rapid neurologic deterioration leading to a vegetative state.	93	116	24	neurologic deterioration	textual	C1850767	Neurologic deterioration			
1022	10190819	3	Adult-onset cerebral ALD also presents with rapidly progressive neurologic dysfunction.	22	24	3	ALD	intuitive - abstract defines ALD as  "adrenoleukodystrophy". A query of ALD yields annotated code, however, also yields 1 other	C0162309	Adrenoleukodystrophy			
1023	10190819	4	Milder phenotypes such as adrenomyeloneuropathy and Addison disease only also have been recognized.	27	47	21	adrenomyeloneuropathy	textual	C1527231	Adrenomyeloneuropathy			
1023	10190819	4	Milder phenotypes such as adrenomyeloneuropathy and Addison disease only also have been recognized.	53	67	15	Addison disease	textual - yields annotated code, however, also yields 2 others	C0001403	Addison`s disease			
1024	10190819	5	Despite discovery of the causative gene, a molecular basis for the diverse clinical presentations remains to be elucidated.					No annotation					
1025	10190819	6	OBJECTIVES: To conduct mutational analyses in 29 Japanese patients with ALD from 29 unrelated families, to obtain knowledge of the spectrum of mutations in this gene, and to study genotype-phenotype correlations in Japanese patients.	73	75	3	ALD	intuitive - abstract defines ALD as  "adrenoleukodystrophy". A query of ALD yields annotated code, however, also yields 1 other	C0162309	Adrenoleukodystrophy			
1026	10190819	8	We conducted detailed mutational analyses of 29 unrelated Japanese patients with ALD by genomic Southern blot analysis and direct nucleotide sequence analysis of reverse transcriptase-polymerase chain reaction products derived from total RNA that was extracted from cultured skin fibroblasts, lymphoblastoid cells, or peripheral blood leukocytes.	82	84	3	ALD	intuitive - abstract defines ALD as  "adrenoleukodystrophy". A query of ALD yields annotated code, however, also yields 1 other	C0162309	Adrenoleukodystrophy			
1027	10190819	9	RESULTS: Three patients with adult-onset cerebral ALD were identified as having large genomic rearrangements.	51	53	3	ALD	intuitive - abstract defines ALD as  "adrenoleukodystrophy". A query of ALD yields annotated code, however, also yields 1 other	C0162309	Adrenoleukodystrophy			
1028	10192393	1	WNT signalling orchestrates a number of developmental programs.					No annotation					
1029	10192393	10	This percentage of CTNNB1 mutations is greater than in all other human tumours examined thus far, and directly implicates beta-catenin/LEF misregulation as the major cause of hair matrix cell tumorigenesis in humans..	72	78	7	tumours	textual - yields annotated code, however, also yields 1 other	C0027651	Neoplasms			
1030	10192393	2	In response to this stimulus, cytoplasmic beta-catenin (encoded by CTNNB1) is stabilized, enabling downstream transcriptional activation by members of the LEF/TCF family.					No annotation					
1031	10192393	3	One of the target genes for beta-catenin/TCF encodes c-MYC, explaining why constitutive activation of the WNT pathway can lead to cancer, particularly in the colon.	131	136	6	cancer	textual - yields annotated codes, however, also yields 2 others	C0006826,C1306459 	Malignant Neoplasms, Primary malignant neoplasm			
1032	10192393	4	Most colon cancers arise from mutations in the gene encoding adenomatous polyposis coli (APC), a protein required for ubiquitin-mediated degradation of beta-catenin, but a small percentage of colon and some other cancers harbour beta-catenin-stabilizing mutations.	6	18	13	colon cancers	textual	C0699790, C0007102	Colon Carcinoma, Malignant tumor of colon			
1032	10192393	4	Most colon cancers arise from mutations in the gene encoding adenomatous polyposis coli (APC), a protein required for ubiquitin-mediated degradation of beta-catenin, but a small percentage of colon and some other cancers harbour beta-catenin-stabilizing mutations.	12	18	7	cancers	textual - yields annotated codes, however, also yields 2 others	C0006826,C1306459 	Malignant Neoplasms, Primary malignant neoplasm			
1032	10192393	4	Most colon cancers arise from mutations in the gene encoding adenomatous polyposis coli (APC), a protein required for ubiquitin-mediated degradation of beta-catenin, but a small percentage of colon and some other cancers harbour beta-catenin-stabilizing mutations.	62	87	26	adenomatous polyposis coli	textual	C0032580	Adenomatous Polyposis Coli			
1033	10192393	5	Recently, we discovered that transgenic mice expressing an activated beta-catenin are predisposed to developing skin tumours resembling pilomatricomas.	113	124	12	skin tumours	textual	C0037286	Skin Neoplasms			
1033	10192393	5	Recently, we discovered that transgenic mice expressing an activated beta-catenin are predisposed to developing skin tumours resembling pilomatricomas.	137	150	14	pilomatricomas	textual	C0206711	Pilomatrixoma			
1034	10192393	6	Given that the skin of these adult mice also exhibits signs of de novo hair-follicle morphogenesis, we wondered whether human pilomatricomas might originate from hair matrix cells and whether they might possess beta-catenin-stabilizing mutations.	72	98	27	hair-follicle morphogenesis	textual	C1523544	hair follicle morphogenesis			
1034	10192393	6	Given that the skin of these adult mice also exhibits signs of de novo hair-follicle morphogenesis, we wondered whether human pilomatricomas might originate from hair matrix cells and whether they might possess beta-catenin-stabilizing mutations.	127	140	14	pilomatricomas	textual	C0206711	Pilomatrixoma			
1035	10192393	7	Here, we explore the cell origin and aetiology of this common human skin tumour.	69	79	11	skin tumour	textual	C0037286	Skin Neoplasms			
1036	10192393	8	We found nuclear LEF-1 in the dividing tumour cells, providing biochemical evidence that pilomatricomas are derived from hair matrix cells.	40	45	6	tumour	textual - yields annotated code, however, also yields 1 other	C0027651	Neoplasms			
1036	10192393	8	We found nuclear LEF-1 in the dividing tumour cells, providing biochemical evidence that pilomatricomas are derived from hair matrix cells.	90	103	14	pilomatricomas	textual	C0206711	Pilomatrixoma			
1037	10192393	9	At least 75% of these tumours possess mutations affecting the amino-terminal segment, normally involved in phosphorylation-dependent, ubiquitin-mediated degradation of the protein.	23	29	7	tumours	textual - yields annotated code, however, also yields 1 other	C0027651	Neoplasms			
1038	10192399	1	Pendred syndrome is the most common form of syndromic deafness and characterized by congenital sensorineural hearing loss and goitre.	1	16	16	Pendred syndrome	textual	C0271829	Pendred`s syndrome			
1038	10192399	1	Pendred syndrome is the most common form of syndromic deafness and characterized by congenital sensorineural hearing loss and goitre.	55	62	8	deafness	textual - yields annotated code and 1 possible alternative	C0011053	Deafness	Complete Hearing Loss [C0581883]		
1038	10192399	1	Pendred syndrome is the most common form of syndromic deafness and characterized by congenital sensorineural hearing loss and goitre.	85	121	37	congenital sensorineural hearing loss	textual	C1865866	Congenital sensorineural hearing loss			
1038	10192399	1	Pendred syndrome is the most common form of syndromic deafness and characterized by congenital sensorineural hearing loss and goitre.	127	132	6	goitre	textual	C0018021	Goiter			
1039	10192399	2	This disorder was mapped to chromosome 7 and the gene causing Pendred syndrome (PDS) was subsequently identified by positional cloning.	81	83	3	PDS	textual - yields annotated code, however, also yields 4 others	C0271829	Pendred`s syndrome			
1039	10192399	2	This disorder was mapped to chromosome 7 and the gene causing Pendred syndrome (PDS) was subsequently identified by positional cloning.	63	78	16	Pendred syndrome	textual	C0271829	Pendred`s syndrome 			
1041	10192399	5	On the basis of this homology and the presence of a slightly modified sulfate-transporter signature sequence comprising its putative second transmembrane domain, pendrin has been proposed to function as a sulfate transporter.					No annotation					
1043	10192399	7	The rates of transport for iodide and chloride were significantly increased following the expression of pendrin in both cell systems.					No annotation					
1044	10192399	8	Our results demonstrate that pendrin functions as a transporter of chloride and iodide, but not sulfate, and may provide insight into thyroid physiology and the pathophysiology of Pendred syndrome..	181	196	16	Pendred syndrome	textual	C0271829	Pendred`s syndrome 			
1045	10194428	1	Hereditary hemochromatosis (HH) is a common autosomal recessive genetic disorder of iron metabolism.	29	30	2	HH	textual - does not yield annotated code	C0392514	Hereditary hemochromatosis			
1045	10194428	1	Hereditary hemochromatosis (HH) is a common autosomal recessive genetic disorder of iron metabolism.	1	26	26	Hereditary hemochromatosis	textual - yields annotated code, however, also yields 1 other 	C0392514	Hereditary hemochromatosis			
1045	10194428	1	Hereditary hemochromatosis (HH) is a common autosomal recessive genetic disorder of iron metabolism.	65	80	16	genetic disorder	textual	C0019247	Hereditary Diseases			
1045	10194428	1	Hereditary hemochromatosis (HH) is a common autosomal recessive genetic disorder of iron metabolism.	73	99	27	disorder of iron metabolism	textual	C0012715	Iron Metabolism Disorders			
1046	10194428	2	The HFE candidate gene encoding an HLA class I-like protein involved in HH was identified in 1996.	73	74	2	HH	intuitive - abstract defines HH as "Hereditary hemochromatosis".  A query of HH does not yield annotated code	C0392514	Hereditary hemochromatosis			
1048	10194428	4	We report here on the analysis of C282Y, H63D, and the 193A-->T substitution leading to the S65C missense substitution in a large series of probands and controls.					No annotation					
1049	10194428	5	The results confirm that the C282Y substitution was the main mutation involved in hemochromatosis, accounting for 85% of carrier chromosomes, whereas the H63D substitution represented 39% of the HH chromosomes that did not carry the C282Y mutation.	83	97	15	hemochromatosis	textual	C0018995	Hemochromatosis			
1050	10194428	6	In addition, our screening showed that the S65C substitution was significantly enriched in probands with at least one chromosome without an assigned mutation.					No annotation					
1052	10194428	8	This enrichment of S65C among HH chromosomes suggests that the S65C substitution is associated with the mild form of hemochromatosis..	118	132	15	hemochromatosis	textual	C0018995	Hemochromatosis			
1053	10196379	1	The objective of this study was to provide more accurate frequency estimates of breast cancer susceptibility gene 1 ( BRCA1 ) germline alterations in the ovarian cancer population.	81	93	13	breast cancer	textual	C0678222,  C0006142	Breast Carcinoma, Malignant neoplasm of breast			
1053	10196379	1	The objective of this study was to provide more accurate frequency estimates of breast cancer susceptibility gene 1 ( BRCA1 ) germline alterations in the ovarian cancer population.	155	168	14	ovarian cancer	textual	C1140680, C0029925	Malignant neoplasm of ovary, Ovarian Carcinoma			
1054	10196379	10	In summary, our data suggest a role for some uncharacterized variants and rare forms of polymorphisms in determining ovarian cancer risk, and highlight the necessity to screen for missense alterations as well as truncating mutations in this population..	118	131	14	ovarian cancer	textual	C1140680, C0029925	Malignant neoplasm of ovary, Ovarian Carcinoma			
1055	10196379	5	Two truncating mutations, 962del4 and 3600del11, were identified.					No annotation					
1056	10196379	6	Both patients had a family history of breast or ovarian cancer.	39	62	24	breast or ovarian cancer	intuitive - list is present, a query of "breast cancer" will yield annotated codes	C0678222,  C0006142	Breast Carcinoma, Malignant neoplasm of breast			
1056	10196379	6	Both patients had a family history of breast or ovarian cancer.	49	62	14	ovarian cancer	textual	C1140680, C0029925	Malignant neoplasm of ovary, Ovarian Carcinoma			
1057	10196379	7	Several novel as well as previously reported uncharacterized variants were also identified, some of which were associated with a family history of cancer.	148	153	6	cancer	textual - yields annotated codes, however, also yields 2 others	C0006826,C1306459 	Malignant Neoplasms, Primary malignant neoplasm			
1058	10196379	8	The frequency distribution of common polymorphisms was determined in the 91 Caucasian cancer cases in this series and 24 sister controls using allele-specific amplification.	87	92	6	cancer	textual - yields annotated codes, however, also yields 2 others	C0006826,C1306459 	Malignant Neoplasms, Primary malignant neoplasm			
1059	10196379	9	The rare form of the Q356R polymorphism was significantly ( P = 0.03) associated with a family history of ovarian cancer, suggesting that this polymorphism may influence ovarian cancer risk.	107	120	14	ovarian cancer	textual	C1140680, C0029925	Malignant neoplasm of ovary, Ovarian Carcinoma			
1060	10196381	1	Inherited defects in the peroxisomal ATP-binding cassette (ABC) transporter adrenoleukodystrophy protein (ALDP) lead to the lethal peroxisomal disorder X-linked adrenoleukodystrophy (X-ALD), for which no efficient treatment has been established so far.	186	188	3	ALD	textual - yields annotated code, however, also yields 1 other	C0162309	Adrenoleukodystrophy			
1060	10196381	1	Inherited defects in the peroxisomal ATP-binding cassette (ABC) transporter adrenoleukodystrophy protein (ALDP) lead to the lethal peroxisomal disorder X-linked adrenoleukodystrophy (X-ALD), for which no efficient treatment has been established so far.	77	96	20	adrenoleukodystrophy	textual - yields annotated code, however, also yields 1 other	C0162309	Adrenoleukodystrophy			
1061	10196381	2	Three other peroxisomal ABC transporters currently are known: adrenoleukodystrophy-related protein (ALDRP), 70 kDa peroxisomal membrane protein (PMP70) and PMP70- related protein.	63	82	20	adrenoleukodystrophy	textual - yields annotated code, however, also yields 1 other	C0162309	Adrenoleukodystrophy			
1062	10196381	3	By using transient and stable overexpression of human cDNAs encoding ALDP and its closest relative ALDRP, we could restore the impaired peroxisomal beta-oxidation in fibroblasts of X-ALD patients.					*					
1063	10196381	4	The pathognomonic accumulation of very long chain fatty acids could also be prevented by overexpression of ALDRP in immortalized X-ALD cells.	132	134	3	ALD	intuitive - abstract defines ALD as  "adrenoleukodystrophy". A query of ALD yields annotated code, however, also yields 1 other	C0162309	Adrenoleukodystrophy			
1063	10196381	4	The pathognomonic accumulation of very long chain fatty acids could also be prevented by overexpression of ALDRP in immortalized X-ALD cells.					*					
1064	10196381	5	Immunofluorescence analysis demonstrated that the functional replacement of ALDP by ALDRP was not due to stabilization of the mutated ALDP itself.					*					
1065	10196381	6	Moreover, we were able to restore the peroxisomal beta-oxidation defect in the liver of ALDP-deficient mice by stimulation of ALDRP and PMP70 gene expression through a dietary treatment with the peroxisome proliferator fenofibrate.					*					
1066	10196381	7	These results suggest that a correction of the biochemical defect in X-ALD could be possible by drug-induced overexpression or ectopic expression of ALDRP..	72	74	3	ALD	intuitive - abstract defines ALD as  "adrenoleukodystrophy". A query of ALD yields annotated code, however, also yields 1 other	C0162309	Adrenoleukodystrophy			
1067	10198641	2	To study mechanisms underlying BRCA1-related tumorigenesis, we derived mouse embryonic fibroblast cells carrying a targeted deletion of exon 11 of the Brca1 gene.	46	58	13	tumorigenesis	textual	C1326912	Tumorigenesis			
1068	10198641	3	We show that the mutant cells maintain an intact G1-S cell cycle checkpoint and proliferate poorly.					No annotation					
1069	10198641	4	However, a defective G2-M checkpoint in these cells is accompanied by extensive chromosomal abnormalities.	81	105	25	chromosomal abnormalities	textual - yields annotated code and 1 possible alternative/synonym	C0008625	Chromosome abnormality	Congenital chromosomal disease [C0008626]		
1070	10198641	5	Mutant fibroblasts contain multiple, functional centrosomes, which lead to unequal chromosome segregation, abnormal nuclear division, and aneuploidy.	139	148	10	aneuploidy	textual	C0002938	Aneuploidy			
1071	10198641	6	These data uncover an essential role of BRCA1 in maintaining genetic stability through the regulation of centrosome duplication and the G2-M checkpoint and provide a molecular basis for the role of BRCA1 in tumorigenesis..	208	220	13	tumorigenesis	textual	C1326912	Tumorigenesis			
1073	10200300	3	Despite heterozygosity for the abnormal allele, lymphocytes from ALPS patients showed markedly decreased FADD association and a loss of caspase recruitment and activation after CD95 crosslinking.	66	69	4	ALPS	intuitive - abstract defines ALPS as "autoimmune lymphoproliferative syndrome".  A query of ALPS yields annotated code, however, also yields 13 others	C1328840	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME			
1074	10200300	4	These data suggest that intracytoplasmic CD95 mutations in ALPS impair apoptosis chiefly by disrupting death-domain interactions with the signaling protein FADD/MORT1..	60	63	4	ALPS	intuitive - abstract defines ALPS as "autoimmune lymphoproliferative syndrome".  A query of ALPS yields annotated code, however, also yields 13 others	C1328840	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME			
1075	10205262	1	We recently showed that alkaptonuria (AKU) is caused by loss-of-function mutations in the homogentisate 1,2 dioxygenase gene HGO.	39	41	3	AKU	textual	C0002066	Alkaptonuria			
1075	10205262	1	We recently showed that alkaptonuria (AKU) is caused by loss-of-function mutations in the homogentisate 1,2 dioxygenase gene HGO.	25	36	12	alkaptonuria	textual	C0002066	Alkaptonuria			
1076	10205262	2	Herein we describe haplotype and mutational analyses of HGO in seven new AKU pedigrees.	74	76	3	AKU	intuitive - abstract defines AKU as "alkaptonuria"  A query of AKU yields annotated code	C0002066	Alkaptonuria			
1077	10205262	3	These analyses identified two novel single-nucleotide polymorphisms (INV4+31A-->G and INV11+18A-->G) and six novel AKU mutations (INV1-1G-->A, W60G, Y62C, A122D, P230T, and D291E), which further illustrates the remarkable allelic heterogeneity found in AKU.	116	118	3	AKU	intuitive - abstract defines AKU as "alkaptonuria"  A query of AKU yields annotated code	C0002066	Alkaptonuria			
1078	10205262	4	Reexamination of all 29 mutations and polymorphisms thus far described in HGO shows that these nucleotide changes are not randomly distributed; the CCC sequence motif and its inverted complement, GGG, are preferentially mutated.					No annotation					
1079	10205262	5	These analyses also demonstrated that the nucleotide substitutions in HGO do not involve CpG dinucleotides, which illustrates important differences between HGO and other genes for the occurrence of mutation at specific short-sequence motifs.					No annotation					
1080	10205262	6	Because the CCC sequence motifs comprise a significant proportion (34.5%) of all mutated bases that have been observed in HGO, we conclude that the CCC triplet is a mutational hot spot in HGO..					No annotation					
1081	10208645	1	Genetic polymorphisms in the cytochrome P450 (CYP) family are widely known to contribute to interindividual differences in the pharmacokinetics of many drugs.					No annotation					
1082	10208645	2	Several alleles for the CYP2C9 gene have been reported.					No annotation					
1083	10208645	3	Individuals homozygous for the Leu359 variant (CYP2C9*3) have been shown to have significantly lower drug clearances compared with Ile359 (CYP2C9*1) homozygous individuals.					No annotation					
1084	10208645	4	A male Caucasian who participated in six bioavailability studies in our laboratory over a period of several years showed extremely low clearance of two drugs: phenytoin and glipizide (both substrates of CYP2C9), but not for nifedipine (a CYP3A4 substrate) and chlorpheniramine a CYP2D6 substrate.					No annotation					
1085	10208645	5	His oral clearance of phenytoin was 21% of the mean of the other 11 individuals participating in the study, and his oral clearance of glipizide, a second generation sulfonylurea structurally similar to tolbutamide, was only 188% of the mean of the other 10 individuals.					No annotation					
1086	10208645	6	However, his oral clearance of nifedipine and chlorpheniramine did not differ from individuals in other studies performed at our laboratories.					No annotation					
1087	10208645	7	An additional blood sample was obtained from this individual to determine if he possessed any of the known CYP2C9 or CYP2C19 allelic variants that would account for his poor clearance of the CYP2C9 substrates (phenytoin and glipizide) compared with the CYP3A4 (nifedipine) and CYP2D6 (chlorpheniramine) substrates.					No annotation					
1088	10208645	8	The results of the genotype testing showed that this individual was homozygous for the CYP2C9*3 allele and did not possess any of the known defective CYP2C19 alleles.					No annotation					
1089	10208645	9	This study establishes that the Leu359 mutation is responsible for the phenytoin and glipizide/tolbutamide poor metabolizer phenotype..					No annotation					
1090	10208848	2	The enzymatic defect leads to the systemic accumulation of neutral glycosphingolipids with terminal alpha-galactosyl moieties.					No annotation					
1091	10208848	3	Clinically, affected hemizygous males have angiokeratoma, severe acroparesthesia, renal failure, and vasculopathy of the heart and brain.	44	56	13	angiokeratoma	textual	C0002985	Angiokeratoma			
1091	10208848	3	Clinically, affected hemizygous males have angiokeratoma, severe acroparesthesia, renal failure, and vasculopathy of the heart and brain.	66	80	15	acroparesthesia	textual	C0234221	Acroparesthesia			
1091	10208848	3	Clinically, affected hemizygous males have angiokeratoma, severe acroparesthesia, renal failure, and vasculopathy of the heart and brain.	83	95	13	renal failure	textual - yields annotated code and 1 possible alternative	C0035078	Kidney Failure	Renal Failure Adverse Event [C1963154]		
1092	10208848	4	While demonstration of alpha-galactosidase deficiency in leukocytes is diagnostic in affected males, enzymatic detection of female carriers is often inconclusive, due to random X-chromosomal inactivation, underlining the need of molecular investigations for accurate genetic counseling.	24	53	30	alpha-galactosidase deficiency	textual - a query of this text yields annotated code	C0002986	Fabry Disease			
1093	10208848	5	By use of chemical cleavage of mismatches adapted to fluorescence-based detection systems, we have characterized the mutations underlying alpha-Gal A deficiency in 16 individuals from six unrelated families with FD.	213	214	2	FD	intuitive - abstract defines FD as "Fabry disease".  A query of FD does not yield annotated code	C0002986	Fabry Disease			
1093	10208848	5	By use of chemical cleavage of mismatches adapted to fluorescence-based detection systems, we have characterized the mutations underlying alpha-Gal A deficiency in 16 individuals from six unrelated families with FD.	139	160	22	alpha-Gal A deficiency	intuitive - this text is short for "alpha-galactosidase deficiency".  A query of "alpha-galactosidase deficiency" yields annotated code	C0002986	Fabry Disease			
1094	10208848	7	Studies at the mRNA level showed that the latter led to altered pre-mRNA splicing with consequent alteration of the mRNA translational reading frame and generation of a premature termination codon of translation.					No annotation					
1095	10208848	8	By use of this strategy, carrier status was accurately assessed in all seven at-risk females tested, whereas enzymatic dosages failed to diagnose or exclude heterozygosity..					No annotation					
1096	10210128	1	A diagnosis of Pelizaeus-Merzbacher disease (MIM 312080) was made in a young boy.	16	43	28	Pelizaeus-Merzbacher disease	textual	C0205711	Pelizaeus-Merzbacher Disease			
1097	10210128	2	No mutation in the coding region of the proteolipid protein (PLP) gene had been found.					No annotation					
1098	10210128	3	The boy's maternal aunt came for prenatal diagnosis when 16+ weeks pregnant and carrying a male fetus.					No annotation					
1099	10210128	4	Samples were tested for duplication of the PLP gene, by interphase FISH, in lymphocyte preparations from the proband, his aunt and an amniotic fluid cell preparation from the fetus.					No annotation					
1100	10210128	5	The proband was found to carry the duplication, thus confirming the diagnosis of Pelizaeus Merzbacher disease, but neither the aunt nor the fetus carried a duplication..	82	109	28	Pelizaeus Merzbacher disease	textual	C0205711	Pelizaeus-Merzbacher Disease			
1101	10213492	1	Inactivation of the adenomatous polyposis coli (APC) gene product initiates colorectal tumorigenesis.	21	46	26	adenomatous polyposis coli	textual	C0032580	Adenomatous Polyposis Coli			
1101	10213492	1	Inactivation of the adenomatous polyposis coli (APC) gene product initiates colorectal tumorigenesis.	77	100	24	colorectal tumorigenesis	intuitive - text implies colorectal tumor growth.  A query of "colorectal tumor" yields annotated code	C0009404	Colorectal Neoplasms	Carcinoma of the Large Intestine [C0009402]		
1102	10213492	2	Patients with familial APC (FAP) carry germ-line mutations in the APC gene and develop multiple colorectal adenomas and subsequent carcinomas early in life.	24	26	3	APC	intuitive - abstract defines APC as  "adenomatous polyposis coli", a query of APC however does not  yield annotated code	C0032580	Adenomatous Polyposis Coli			
1102	10213492	2	Patients with familial APC (FAP) carry germ-line mutations in the APC gene and develop multiple colorectal adenomas and subsequent carcinomas early in life.	97	115	19	colorectal adenomas	textual - does not yield annotated code	C1302401	Adenoma of large intestine			
1102	10213492	2	Patients with familial APC (FAP) carry germ-line mutations in the APC gene and develop multiple colorectal adenomas and subsequent carcinomas early in life.	97	141	45	colorectal adenomas and subsequent carcinomas	intuitive - list is present a query of "colorectal carcinomas" yields annotated code	C0009402	Carcinoma of the Large Intestine			
1103	10213492	3	The severity of the disease correlates with the position of the inherited APC mutation genotype-phenotype correlation.	21	27	7	disease	intuitive - disease is referring to "colorectal adenomas" and "colorectal carcinomas"	C1302401, C0009402 	Adenoma of large intestine, Carcinoma of the Large Intestine 			
1106	10213492	6	Here, we provide experimental evidence for a dominant negative effect of APC gene products associated with severe polyposis.	115	123	9	polyposis	textual	C0334108	Multiple polyps			
1108	10213492	8	In contrast, mutant APC gene products that are associated with attenuated polyposis (codon 386 or 1465) interfered only weakly with wild-type APC activity.	75	83	9	polyposis	textual	C0334108	Multiple polyps			
1109	10213492	9	These results suggest a molecular explanation for the genotype-phenotype correlation in FAP patients and support the idea that colorectal tumor growth might be, in part, driven by selection for a mutation in the mutation cluster region..	89	91	3	FAP	intuitive - abstract defines FAP as "familial adenomatous polyposis coli".  A query of FAP yields annotated code, however, also yields 6 others	C0032580	Adenomatous Polyposis Coli			
1109	10213492	9	These results suggest a molecular explanation for the genotype-phenotype correlation in FAP patients and support the idea that colorectal tumor growth might be, in part, driven by selection for a mutation in the mutation cluster region..	128	143	16	colorectal tumor	textual	C0009404	Colorectal Neoplasms			
1110	10220405	2	BRCA1 contains a carboxyl-terminal domain (BRCT) that is shared with several other proteins involved in maintaining genome integrity.					No annotation					
1111	10220405	3	In an effort to understand the function of BRCA1, we sought to isolate proteins that interact with the BRCT domain.					No annotation					
1112	10220405	4	Purified BRCT polypeptide was used as a probe to screen a human placenta cDNA expression library by Far Western analysis.					No annotation					
1113	10220405	5	Here we report that BRCA1 interacts in vivo and in vitro with the Rb-binding proteins, RbAp46 and RbAp48, as well as with Rb.					No annotation					
1114	10220405	6	Moreover, the BRCT domain associates with the histone deacetylases HDAC1 and HDAC2.					No annotation 					
1115	10220405	7	These results demonstrate that BRCA1 interacts with components of the histone deacetylase complex, and therefore may explain the involvement of BRCA1 in multiple processes such as transcription, DNA repair, and recombination..					No annotation					
1116	102474	1	By routine screening of sera, a subject was discovered who showed a sub-total deficiency of C6 and C7.	79	94	16	deficiency of C6	textual - yields UMLS code for C6 gene, however, I believe the UMLS code for Complement 6 deficiency should be the annotation	C0398767	Complement 6 deficiency			
1116	102474	1	By routine screening of sera, a subject was discovered who showed a sub-total deficiency of C6 and C7.	79	101	23	deficiency of C6 and C7	intuitive - list is present.  A query of "deficiency of C7" yields annotated code	C1864694	COMPLEMENT COMPONENT 7 DEFICIENCY			
1117	102474	3	The propositus was found to have low quantities of an abnormal C6 which was both antigenically deficient and smaller in size than normal C6 (110,000 daltons compared with 140,000 daltons) and small quantities of apparently normal C7.					No annotation					
1118	102474	4	It is concluded that the most likely explanation for this defect is that the subject has a structural mutation in his C6 gene which produces hyopsynthesis not only of C6 but also of the closely linked gene for C7.					No annotation					
1119	102474	5	These findings suggest the possibility that C6 and C7 may function as a single genetic unit and that the primary transcript copied from the genome includes information for both proteins..					No annotation					
1120	10323252	1	Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked recessive muscular dystrophy characterized by early contractures of the elbows, Achilles tendons and spine, slowly progressive muscle wasting and weakness, and cardiomyopathy associated with cardiac conduction defects.	36	39	4	EDMD	textual - yields alternative code	C0410189	Muscular Dystrophy, Emery-Dreifuss	[ C0751337 ] X-Linked Emery-Dreifuss Muscular Dystrophy		
1120	10323252	1	Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked recessive muscular dystrophy characterized by early contractures of the elbows, Achilles tendons and spine, slowly progressive muscle wasting and weakness, and cardiomyopathy associated with cardiac conduction defects.	1	33	33	Emery-Dreifuss muscular dystrophy	textual - yields annotated code.  Alternative code is listed.	C0410189	Muscular Dystrophy, Emery-Dreifuss	[ C0751337 ] X-Linked Emery-Dreifuss Muscular Dystrophy		
1120	10323252	1	Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked recessive muscular dystrophy characterized by early contractures of the elbows, Achilles tendons and spine, slowly progressive muscle wasting and weakness, and cardiomyopathy associated with cardiac conduction defects.	16	33	18	muscular dystrophy	textual	C0026850	Muscular Dystrophies			
1120	10323252	1	Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked recessive muscular dystrophy characterized by early contractures of the elbows, Achilles tendons and spine, slowly progressive muscle wasting and weakness, and cardiomyopathy associated with cardiac conduction defects.	184	197	14	muscle wasting	textual	C0026846	Muscular Atrophy			
1120	10323252	1	Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked recessive muscular dystrophy characterized by early contractures of the elbows, Achilles tendons and spine, slowly progressive muscle wasting and weakness, and cardiomyopathy associated with cardiac conduction defects.	184	210	27	muscle wasting and weakness	intuitive - list is present, a query of "muscle weakness" yields annotated code	C0151786	Muscle Weakness			
1120	10323252	1	Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked recessive muscular dystrophy characterized by early contractures of the elbows, Achilles tendons and spine, slowly progressive muscle wasting and weakness, and cardiomyopathy associated with cardiac conduction defects.	217	230	14	cardiomyopathy	textual	C0878544	Cardiomyopathies			
1120	10323252	1	Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked recessive muscular dystrophy characterized by early contractures of the elbows, Achilles tendons and spine, slowly progressive muscle wasting and weakness, and cardiomyopathy associated with cardiac conduction defects.	248	273	26	cardiac conduction defects	textual	C0264886	Conduction disorder of the heart			
1121	10323252	2	The emerin gene has been mapped to Xq28 and encodes a 34-kDa serine-rich protein, emerin, which has been localized to the nuclear envelope in a wide variety of tissues, including skeletal and cardiac muscle.					No annotation					
1122	10323252	3	Mutations spanning the emerin gene have been identified in patients with EDMD.	74	77	4	EDMD	intuitive - abstract defines EDMD as "Emery-Dreifuss muscular dystrophy".  Yields alternative code	C0410189	Muscular Dystrophy, Emery-Dreifuss	[ C0751337 ] X-Linked Emery-Dreifuss Muscular Dystrophy		
1123	10323252	4	We present here the effect, on emerin protein expression, of two missense mutations identified in unrelated EDMD patients.	109	112	4	EDMD	intuitive - abstract defines EDMD as "Emery-Dreifuss muscular dystrophy".  Yields alternative code	C0410189	Muscular Dystrophy, Emery-Dreifuss	[ C0751337 ] X-Linked Emery-Dreifuss Muscular Dystrophy		
1124	10323252	5	These alterations predict the replacement of a proline residue at position 183 with either a histidine or a threonine.					No annotation					
1125	10323252	6	Biochemical analysis has demonstrated that the mobility and expression levels of the mutant forms of emerin are indistinguishable from that of wild-type emerin, but that they have weakened interactions with nuclear lamina components.					No annotation					
1126	10323252	7	In comparison with the usual EDMD phenotype, patients with P183 missense mutations have a later age at onset of first symptoms, elbow contractures, ankle contractures, upper limb weakness and lower limb weakness, but there is no difference for the age at onset of cardiac involvement.	30	33	4	EDMD	intuitive - abstract defines EDMD as "Emery-Dreifuss muscular dystrophy".  Yields alternative code	C0410189	Muscular Dystrophy, Emery-Dreifuss	[ C0751337 ] X-Linked Emery-Dreifuss Muscular Dystrophy		
1126	10323252	7	In comparison with the usual EDMD phenotype, patients with P183 missense mutations have a later age at onset of first symptoms, elbow contractures, ankle contractures, upper limb weakness and lower limb weakness, but there is no difference for the age at onset of cardiac involvement.					*					
1127	10323252	8	This is the first report of protein studies on patients with missense mutations resulting in the clinical features of EDMD.	119	122	4	EDMD	intuitive - abstract defines EDMD as "Emery-Dreifuss muscular dystrophy".  Yields alternative code	C0410189	Muscular Dystrophy, Emery-Dreifuss	[ C0751337 ] X-Linked Emery-Dreifuss Muscular Dystrophy		
1128	10323252	9	These studies demonstrate the importance of proline 183 for the proper structure/function of emerin..					No annotation					
1129	10323740	1	Van der Woude syndrome (VWS) is an autosomal dominant disorder comprising cleft lip and/or cleft palate and lip pits.	25	27	3	VWS	textual - yields only annotated code	C0175697	Van der Woude syndrome			
1129	10323740	1	Van der Woude syndrome (VWS) is an autosomal dominant disorder comprising cleft lip and/or cleft palate and lip pits.	1	22	22	Van der Woude syndrome	textual - yields annotated code, also yields code for VWS gene	C0175697	Van der Woude syndrome			
1129	10323740	1	Van der Woude syndrome (VWS) is an autosomal dominant disorder comprising cleft lip and/or cleft palate and lip pits.	75	83	9	cleft lip	textual	C0008924	Cleft Lip			
1129	10323740	1	Van der Woude syndrome (VWS) is an autosomal dominant disorder comprising cleft lip and/or cleft palate and lip pits.	92	103	12	cleft palate	textual	C0008925	Cleft Palate			
1129	10323740	1	Van der Woude syndrome (VWS) is an autosomal dominant disorder comprising cleft lip and/or cleft palate and lip pits.	109	116	8	lip pits	textual	C0341059	Lip pits			
1130	10323740	10	These observations suggest that genetic searches for microdeletions should be routine in screening patients for causes of VWS and may facilitate the positional cloning efforts of the VWS gene and of a nearby gene or genes that may be involved in brain development..	123	125	3	VWS	intuitive - abstract defines VWS as "Van der Woude syndrome" yields only annotated code	C0175697	Van der Woude syndrome			
1131	10323740	2	We reported previously a family whose underlying mutation is a 500-800 kb deletion localized to chromosome bands 1q32-q41 Sander et al., 1994: Hum Mol Genet 3:576-578.					No annotation					
1132	10323740	3	Along with cleft lip/palate and lip pits, affected relatives exhibit developmental delays, suggesting that the function of a gene nearby may also be disrupted.	12	20	9	cleft lip	textual	C0008924	Cleft Lip			
1132	10323740	3	Along with cleft lip/palate and lip pits, affected relatives exhibit developmental delays, suggesting that the function of a gene nearby may also be disrupted.	12	27	16	cleft lip/palate	intuitive - list is present. A query of "cleft palate" yields annotated code	C0008925	Cleft Palate			
1132	10323740	3	Along with cleft lip/palate and lip pits, affected relatives exhibit developmental delays, suggesting that the function of a gene nearby may also be disrupted.	33	40	8	lip pits	textual	C0341059	Lip pits			
1132	10323740	3	Along with cleft lip/palate and lip pits, affected relatives exhibit developmental delays, suggesting that the function of a gene nearby may also be disrupted.	70	89	20	developmental delays	textual	C0424605	Developmental delay (disorder)			
1133	10323740	4	To further localize the VWS gene we searched for other deletions that cause VWS.	77	79	3	VWS	intuitive - abstract defines VWS as "Van der Woude syndrome" yields only annotated code	C0175697	Van der Woude syndrome			
1134	10323740	5	An allele loss assay was performed using a novel highly polymorphic marker, D1S3753.					No annotation					
1135	10323740	7	In this family, the phenotype in three generations of affected individuals was confined to the cardinal signs of VWS.	114	116	3	VWS	intuitive - abstract defines VWS as "Van der Woude syndrome" yields only annotated code	C0175697	Van der Woude syndrome			
1136	10323740	8	Surprisingly, mapping of the new deletion showed that it extended 0.2-1 Mb beyond the proximal breakpoint for the deletion described previously.					No annotation					
1137	10323740	9	No deletions were detected in seven cases of popliteal pterygia syndrome, 76 cases of mixed syndromic forms of cleft lip and palate, and 178 cases of nonsyndromic cleft lip and palate.	46	72	27	popliteal pterygia syndrome	textual	C0265259	Popliteal pterygium syndrome			
1137	10323740	9	No deletions were detected in seven cases of popliteal pterygia syndrome, 76 cases of mixed syndromic forms of cleft lip and palate, and 178 cases of nonsyndromic cleft lip and palate.	112	131	20	cleft lip and palate	intuitive - list is present. A query of "cleft palate" yields annotated code	C0008925	Cleft Palate			
1137	10323740	9	No deletions were detected in seven cases of popliteal pterygia syndrome, 76 cases of mixed syndromic forms of cleft lip and palate, and 178 cases of nonsyndromic cleft lip and palate.	112	120	9	cleft lip	textual	C0008924	Cleft Lip			
1137	10323740	9	No deletions were detected in seven cases of popliteal pterygia syndrome, 76 cases of mixed syndromic forms of cleft lip and palate, and 178 cases of nonsyndromic cleft lip and palate.	164	183	20	cleft lip and palate	intuitive - list is present. A query of "cleft palate" yields annotated code	C0008925	Cleft Palate			
1137	10323740	9	No deletions were detected in seven cases of popliteal pterygia syndrome, 76 cases of mixed syndromic forms of cleft lip and palate, and 178 cases of nonsyndromic cleft lip and palate.	164	172	9	cleft lip	textual	C0008924	Cleft Lip			
1138	10330348	2	Fewer than half of the splicing mutations involved the canonical AG splice-acceptor site or GT splice-donor site.					No annotation					
1139	10330348	3	A higher percentage of mutations occurred at less stringently conserved sites, including silent mutations of the last nucleotide of exons, mutations in nucleotides other than the conserved AG and GT in the consensus splice sites, and creation of splice-acceptor or splice-donor sites in either introns or exons.					No annotation					
1140	10330348	4	These splicing mutations led to a variety of consequences, including exon skipping and, to a lesser degree, intron retention, activation of cryptic splice sites, or creation of new splice sites.					No annotation					
1141	10330348	5	In addition, 5 of 12 nonsense mutations and 1 missense mutation were associated with deletion in the cDNA of the exons in which the mutations occurred.					No annotation					
1142	10330348	6	No ATM protein was detected by western blotting in any AT cell line in which splicing mutations were identified.	56	57	2	AT	intuitive - abstract defined AT as   "ataxia-telangiectasia".  A query of AT yields annotated code, however, also yields 7 others	C0004135	Ataxia Telangiectasia			
1143	10330348	7	Several cases of exon skipping in both normal controls and patients for whom no underlying defect could be found in genomic DNA were also observed, suggesting caution in the interpretation of exon deletions observed in ATM cDNA when there is no accompanying identification of genomic mutations..					No annotation					
1144	10330430	1	We identified the alpha-cardiac actin gene (ACTC) as a novel disease gene in a pedigree suffering from familial hypertrophic cardiomyopathy FHC.	141	143	3	FHC	textual - does not yield annotated code	C0949658	Cardiomyopathy, Hypertrophic, Familial			
1144	10330430	1	We identified the alpha-cardiac actin gene (ACTC) as a novel disease gene in a pedigree suffering from familial hypertrophic cardiomyopathy FHC.	104	139	36	familial hypertrophic cardiomyopathy	textual - yields annotated code and 1 other	C0949658	Cardiomyopathy, Hypertrophic, Familial			
1146	10330430	3	Further linkage analyses of plausible candidate genes highly expressed in the adult human heart identified ACTC as the most likely disease gene, showing a maximal lod score of 3.6.					No annotation					
1147	10330430	4	Mutation analysis of ACTC revealed an Ala295Ser mutation in exon 5 close to 2 missense mutations recently described to cause the inherited form of idiopathic dilated cardiomyopathy IDC.	148	180	33	idiopathic dilated cardiomyopathy	textual - yields annotated code and 1 possible alternative	C1449563	Cardiomyopathy, Familial Idiopathic	[C0264793 ] Primary idiopathic dilated cardiomyopathy		
1149	10330430	6	We hypothesize that ACTC mutations affecting sarcomere contraction lead to FHC and that mutations affecting force transmission from the sarcomere to the surrounding syncytium lead to IDC..	184	186	3	IDC	intuitive - abstract defines IDC as "idiopathic dilated cardiomyopathy", a query of IDC yields only alternative	C1449563	Cardiomyopathy, Familial Idiopathic	[C0264793 ] Primary idiopathic dilated cardiomyopathy		
1150	10353787	10	Of 16 oral mucosal lesions studied histologically, 15 represented fibroepithelial or epithelial hyperplasias and were reactive in nature.	7	26	20	oral mucosal lesions	textual - must query "oral mucosa lesions" to yield annotated code	C1821273	Oral mucosa lesions	Irritative hyperplasia of oral mucosa [C0267018]		
1150	10353787	10	Of 16 oral mucosal lesions studied histologically, 15 represented fibroepithelial or epithelial hyperplasias and were reactive in nature.	67	108	42	fibroepithelial or epithelial hyperplasias	textual - yields annotated code and 1 alternative	C1304927	Fibroepithelial hyperplasia	Irritative hyperplasia of oral mucosa [C0267018]		
1150	10353787	10	Of 16 oral mucosal lesions studied histologically, 15 represented fibroepithelial or epithelial hyperplasias and were reactive in nature.	86	108	23	epithelial hyperplasias	textual	C0014599	Epithelial hyperplasia			
1151	10353787	11	Cytoplasmic vacuolisation was evident in four.	1	25	25	Cytoplasmic vacuolisation	textual	C0010840	Vacuolation			
1152	10353787	12	Immunohistochemically, expression of AGA in AGU patients' mucosal lesions did not differ from that seen in corresponding lesions of normal subjects.	45	47	3	AGU	intuitive - abstract defines AGU as "Aspartylglucosaminuria", query of AGU only yields UMLS code for "AGA gene"	C0268225	Aspartylglucosaminuria			
1152	10353787	12	Immunohistochemically, expression of AGA in AGU patients' mucosal lesions did not differ from that seen in corresponding lesions of normal subjects.	59	73	15	mucosal lesions	intuitive - these lesions are in reference to "oral mucosa lesions"	C1821273	Oral mucosa lesions			
1152	10353787	12	Immunohistochemically, expression of AGA in AGU patients' mucosal lesions did not differ from that seen in corresponding lesions of normal subjects.	67	73	7	lesions	intuitive - these lesions are in reference to "oral mucosa lesions"	C1821273	Oral mucosa lesions			
1153	10353787	13	Thus, the high frequency of mucosal overgrowth in AGU patients does not appear to be directly associated with lysosomal storage or with alterations in the level of AGA expression..	51	53	3	AGU	intuitive - abstract defines AGU as "Aspartylglucosaminuria", query of AGU only yields UMLS code for "AGA gene"	C0268225	Aspartylglucosaminuria			
1154	10353787	2	The main symptom is progressive mental retardation.	21	50	30	progressive mental retardation	textual	C1846149	Progressive mental retardation			
1155	10353787	3	A spectrum of different mutations has been reported in this disease, one missense mutation (Cys163Ser) being responsible for the majority of Finnish cases.	61	67	7	disease	intuitive - "disease" is referring to "Aspartylglucosaminuria"	C0268225	Aspartylglucosaminuria			
1156	10353787	4	We were able to examine 66 Finnish AGU patients for changes in the oral mucosa and 44 of these for changes in facial skin.	36	38	3	AGU	intuitive - abstract defines AGU as "Aspartylglucosaminuria", query of AGU only yields UMLS code for "AGA gene"	C0268225	Aspartylglucosaminuria			
1157	10353787	5	Biopsy specimens of 16 oral lesions, 12 of them associated with the teeth, plus two facial lesions were studied histologically.	24	35	12	oral lesions	intuitive - "oral lesions" was in reference to oral mucosa lesions	C1821273	Oral mucosa lesions			
1157	10353787	5	Biopsy specimens of 16 oral lesions, 12 of them associated with the teeth, plus two facial lesions were studied histologically.	85	98	14	facial lesions	textual - does not yield annotated code, must query "face lesion"	C0743775	FACE LESION			
1158	10353787	6	Immunohistochemical staining for AGA was performed on 15 oral specimens.					No annotation					
1159	10353787	7	Skin was seborrhoeic in adolescent and adult patients, with erythema of the facial skin already common in childhood.	61	68	8	erythema	textual	C0041834	Erythema			
1160	10353787	8	Of 44 patients, nine (20%) had facial angiofibromas, tumours primarily occurring in association with tuberous sclerosis.	39	51	13	angiofibromas	textual	C0206731	Angiofibroma			
1160	10353787	8	Of 44 patients, nine (20%) had facial angiofibromas, tumours primarily occurring in association with tuberous sclerosis.	54	60	7	tumours	textual - yields annotated code, however, also yields 1 other	C0027651	Neoplasms			
1160	10353787	8	Of 44 patients, nine (20%) had facial angiofibromas, tumours primarily occurring in association with tuberous sclerosis.	102	119	18	tuberous sclerosis	textual	C0041341	Tuberous Sclerosis			
1161	10353787	9	Oedemic buccal mucosa (leucoedema) and gingival overgrowths were more frequent in AGU patients than in controls p<0.001.	83	85	3	AGU	intuitive - abstract defines AGU as "Aspartylglucosaminuria", query of AGU only yields UMLS code for "AGA gene"	C0268225	Aspartylglucosaminuria			
1161	10353787	9	Oedemic buccal mucosa (leucoedema) and gingival overgrowths were more frequent in AGU patients than in controls p<0.001.	1	21	21	Oedemic buccal mucosa	intuitive - Oedemic buccal mucosa was defined  as leucodema, a query of this text does not yield annotated code	C0334015	Leukedema			
1161	10353787	9	Oedemic buccal mucosa (leucoedema) and gingival overgrowths were more frequent in AGU patients than in controls p<0.001.	24	33	10	leucoedema	textual	C0334015	Leukedema			
1161	10353787	9	Oedemic buccal mucosa (leucoedema) and gingival overgrowths were more frequent in AGU patients than in controls p<0.001.	40	59	20	gingival overgrowths	textual	C0376480	Gingival Overgrowth			
1162	10364518	1	The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by major abnormalities of eyes, nervous system, and kidneys.	41	44	4	OCRL	textual - yields annotated code, however, also yields 1 other	C0028860	Oculocerebrorenal Syndrome			
1162	10364518	1	The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by major abnormalities of eyes, nervous system, and kidneys.	5	38	34	oculocerebrorenal syndrome of Lowe	textual - yields annotated code, however, also yields 1 other	C0028860	Oculocerebrorenal Syndrome			
1162	10364518	1	The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by major abnormalities of eyes, nervous system, and kidneys.	94	114	21	abnormalities of eyes	textual	C0015393	Eye Abnormalities			
1162	10364518	1	The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by major abnormalities of eyes, nervous system, and kidneys.	94	130	37	abnormalities of eyes, nervous system	intuitive - list is present, a query of "abnormalities of nervous system" yields annotated code	C0497552	Congenital neurologic anomalies			
1162	10364518	1	The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by major abnormalities of eyes, nervous system, and kidneys.	94	143	50	abnormalities of eyes, nervous system, and kidneys	intuitive - list is present, annotation is for abnormalities of kidneys	C0151746	Abnormal renal function			
1163	10364518	10	This observation has direct implications for genetic counseling of Lowe syndrome families..	68	80	13	Lowe syndrome	textual	C0028860	Oculocerebrorenal Syndrome			
1164	10364518	2	Mutations in the OCRL1 gene have been associated with the disease.					*					
1165	10364518	3	OCRL1 encodes a phosphatidylinositol 4, 5-biphosphate PtdIns 4,5 P2 5-phosphatase.					*					
1166	10364518	4	We have examined the OCRL1 gene in eight unrelated patients with OCRL and have found seven new mutations and one recurrent in-frame deletion.	66	69	4	OCRL	intuitive - abstract defines OCRL as  "oculocerebrorenal syndrome of Lowe". A query of OCRL yields annotated code and 1 other	C0028860	Oculocerebrorenal Syndrome			
1167	10364518	5	Among the new mutations, two nonsense mutations (R317X and E558X) and three other frameshift mutations caused premature termination of the protein.					No annotation					
1168	10364518	6	A missense mutation, R483G, was located in the highly conserved PtdIns(4,5)P2 5-phosphatase domain.					No annotation					
1169	10364518	7	Finally, one frameshift mutation, 2799delC, modifies the C-terminal part of OCRL1, with an extension of six amino acids.					No annotation					
1170	10364518	8	Altogether, 70% of missense mutations are located in exon 15, and 52% of all mutations cluster in exons 11-15.					No annotation					
1171	10364518	9	We also identified two new microsatellite markers for the OCRL1 locus, and we detected a germline mosaicism in one family.					*					
1172	10364520	1	Familial Mediterranean fever (FMF) is a recessively inherited disorder that is common in patients of Armenian ancestry.	31	33	3	FMF	textual - yields annotated code, however, also yields 1 other	C0031069	Familial Mediterranean Fever			
1172	10364520	1	Familial Mediterranean fever (FMF) is a recessively inherited disorder that is common in patients of Armenian ancestry.	1	28	28	Familial Mediterranean fever	textual	C0031069	Familial Mediterranean Fever			
1173	10364520	2	To date, its diagnosis, which can be made only retrospectively, is one of exclusion, based entirely on nonspecific clinical signs that result from serosal inflammation and that may lead to unnecessary surgery.	148	167	20	serosal inflammation	could not find corresponding UMLS code					
1174	10364520	3	Renal amyloidosis, prevented by colchicine, is the most severe complication of FMF, a disorder associated with mutations in the MEFV gene.	80	82	3	FMF	intuitive - FMF is defines as "Familial Mediterranean fever ", a query of FMF yields annotated code, however, also yields 1 other	C0031069	Familial Mediterranean Fever			
1174	10364520	3	Renal amyloidosis, prevented by colchicine, is the most severe complication of FMF, a disorder associated with mutations in the MEFV gene.	1	17	17	Renal amyloidosis	textual	C0268382	Amyloid nephropathy			
1175	10364520	4	To evaluate the diagnostic and prognostic value of MEFV-gene analysis, we investigated 90 Armenian FMF patients from 77 unrelated families that were not selected through genetic-linkage analysis.	100	102	3	FMF	intuitive - FMF is defines as "Familial Mediterranean fever ", a query of FMF yields annotated code, however, also yields 1 other	C0031069	Familial Mediterranean Fever			
1176	10364520	5	Eight mutations, one of which (R408Q) is new, were found to account for 93% of the 163 independent FMF alleles, with both FMF alleles identified in 89% of the patients.					*					
1177	10364520	6	In several instances, family studies provided molecular evidence for pseudodominant transmission and incomplete penetrance of the disease phenotype.					No annotation					
1178	10364520	7	The M694V homozygous genotype was found to be associated with a higher prevalence of renal amyloidosis and arthritis, compared with other genotypes P=.0002 and P=.006, respectively.	86	102	17	renal amyloidosis	textual	C0268382	Amyloid nephropathy			
1178	10364520	7	The M694V homozygous genotype was found to be associated with a higher prevalence of renal amyloidosis and arthritis, compared with other genotypes P=.0002 and P=.006, respectively.	108	116	9	arthritis	textual	C0003864	Arthritis			
1179	10364520	8	The demonstration of both the diagnostic and prognostic value of MEFV analysis and particular modes of inheritance should lead to new ways for management of FMF-including genetic counseling and therapeutic decisions in affected families..	158	160	3	FMF	intuitive - FMF is defines as "Familial Mediterranean fever ", a query of FMF yields annotated code, however, also yields 1 other	C0031069	Familial Mediterranean Fever			
1180	10364521	1	Identification of the FMR1 gene and the repeat-amplification mechanism causing fragile X syndrome led to development of reliable DNA-based diagnostic methods, including Southern blot hybridization and PCR.	80	97	18	fragile X syndrome	textual	C0016667	Fragile X Syndrome			
1181	10364521	10	In addition, this test enabled us to identify two fragile X patients who did not show the full mutation by analysis of DNA isolated from blood cells..	51	59	9	fragile X	textual	C0016667	Fragile X Syndrome			
1182	10364521	2	Both methods are performed on DNA isolated from peripheral blood cells and measure the repeat size in FMR1.					No annotation					
1183	10364521	3	Using an immunocytochemical technique on blood smears, we recently developed a novel test for identification of patients with fragile X syndrome.	127	144	18	fragile X syndrome	textual	C0016667	Fragile X Syndrome			
1184	10364521	4	This method, also called antibody test					No annotation					
1185	10364521	5	Here we describe a new diagnostic test to identify male patients with fragile X syndrome, on the basis of lack of FMRP in their hair roots.	71	88	18	fragile X syndrome	textual	C0016667	Fragile X Syndrome			
1186	10364521	6	Expression of FMRP in hair roots was studied by use of an FMRP-specific antibody test, and the percentage of FMRP-expressing hair roots in controls and in male fragile X patients was determined.	161	169	9	fragile X	textual - A query of "fragile X" does not  yield annotated code, however, must query "fragile X syndrome"	C0016667	Fragile X Syndrome			
1187	10364521	7	Control individuals showed clear expression of FMRP in nearly every hair root, whereas male fragile X patients lacked expression of FMRP in almost all their hair roots.	93	101	9	fragile X	textual - A query of "fragile X" does not  yield annotated code, however, must query "fragile X syndrome"	C0016667	Fragile X Syndrome			
1188	10364521	8	Mentally retarded female patients with a full mutation showed FMRP expression in only some of their hair roots (<55%), and no overlap with normal female controls was observed.	1	17	17	Mentally retarded	textual - a query of "mental retardation" yields annotated code	C0025362	Mental Retardation			
1189	10364521	9	The advantages of this test are (1) plucking of hair follicles does no appreciable harm to the mentally retarded patient, (2) hairs can be sent in a simple envelope to a diagnostic center, and (3) the result of the test is available within 5 h of plucking.	96	112	17	mentally retarded	textual - a query of "mental retardation" yields annotated code	C0025362	Mental Retardation			
1190	10364525	1	Prostate cancer clusters in some families, and an estimated 5%-10% of all cases are estimated to result from inheritance of prostate cancer-susceptibility genes.	1	15	15	Prostate cancer	textual	C0376358, C0600139 	Malignant neoplasm of prostate, Prostate carcinoma			
1190	10364525	1	Prostate cancer clusters in some families, and an estimated 5%-10% of all cases are estimated to result from inheritance of prostate cancer-susceptibility genes.					*					
1191	10364525	2	We previously reported evidence of linkage to the 1q24-25 region (HPC1) in 91 North American and Swedish families each with multiple cases of prostate cancer Smith et al. 1996.	143	157	15	prostate cancer	textual	C0376358, C0600139 	Malignant neoplasm of prostate, Prostate carcinoma			
1192	10364525	3	In the present report we analyze 40 (12 original and 28 newly identified) Swedish families with hereditary prostate cancer (HPC) that, on the basis of 40 markers spanning a 25-cM interval within 1q24-25, have evidence of linkage.	108	122	15	prostate cancer	textual	C0376358, C0600139 	Malignant neoplasm of prostate, Prostate carcinoma			
1193	10364525	4	In the complete set of families, a maximum two-point LOD score of 1.10 was observed at D1S413 at a recombination fraction theta of.1 , with a maximum NPL (nonparametric linkage) Z score of 1.64 at D1S202 P=.05.					No annotation					
1194	10364525	5	The evidence of linkage to this region originated almost exclusively from the subset of 12 early-onset (age <65 years) families, which yielded a maximum LOD score of 2.38 at D1S413 (straight theta=0) and an NPL Z score of 1.95 at D1S422 P=.03.					No annotation					
1195	10364525	6	Estimates from heterogeneity tests suggest that, within Sweden, as many as 50% of early-onset families had evidence of linkage to the HPC1 region.					No annotation					
1196	10364525	7	These results are consistent with the hypothesis of linkage to HPC1 in a subset of families with prostate cancer, particularly those with an early age at diagnosis..					No annotation					
1197	10366443	1	A family of domestic cats was found that exhibited clinical and biochemical abnormalities consistent with mucopolysaccharidosis VII, an autosomal recessive lysosomal storage disorder caused by beta-glucuronidase deficiency.	107	131	25	mucopolysaccharidosis VII	textual	C0085132	Mucopolysaccharidosis VII			
1197	10366443	1	A family of domestic cats was found that exhibited clinical and biochemical abnormalities consistent with mucopolysaccharidosis VII, an autosomal recessive lysosomal storage disorder caused by beta-glucuronidase deficiency.	157	182	26	lysosomal storage disorder	textual	C0085078	Lysosomal Storage Diseases			
1197	10366443	1	A family of domestic cats was found that exhibited clinical and biochemical abnormalities consistent with mucopolysaccharidosis VII, an autosomal recessive lysosomal storage disorder caused by beta-glucuronidase deficiency.	194	222	29	beta-glucuronidase deficiency	textual - yields annotated code	C0085132	Mucopolysaccharidosis VII			
1198	10366443	2	beta-Glucuronidase activity was undetectable in affected cat fibroblasts and restored by retroviral gene transfer of rat beta-glucuronidase cDNA.					No annotation					
1199	10366443	3	beta-Glucuronidase mRNA was normal in affected cat testis by Northern blot analysis.					No annotation					
1200	10366443	4	Normal feline beta-glucuronidase cDNA was cloned and characterized, and amplified from affected cat fibroblasts by reverse transcription coupled polymerase chain reaction.					No annotation					
1201	10366443	5	There was a G-to-A transition in the affected cat cDNA that predicted an E351K substitution, destroyed a BssSI site, and eliminated GUSB enzymatic activity in expression studies.					No annotation					
1202	10366443	6	Multiple species comparison and the crystal structure of human beta-glucuronidase indicated that E351 is a highly conserved residue most likely essential in maintenance of the enzyme's conformation.					No annotation					
1203	10366443	7	BssSI digestion of polymerase chain reaction products amplified from genomic DNA indicated that affected cats were homozygous and cats with half-normal beta-glucuronidase activity were heterozygous for the missense mutation.					No annotation					
1204	10366443	8	Carriers identified in this manner produced affected kittens in prospective breedings, and a feline MPS VII breeding colony has been established..	101	107	7	MPS VII	intuitive - abstract defines MPS VII as "Mucopolysaccharidosis VII", a query of MPS VII yields annotated code	C0085132	Mucopolysaccharidosis VII			
1205	10369860	1	The chromosome 22q11 region is susceptible to rearrangements that are associated with congenital anomaly disorders and malignant tumors.	87	114	28	congenital anomaly disorders	textual	C0000768	Congenital Abnormality			
1205	10369860	1	The chromosome 22q11 region is susceptible to rearrangements that are associated with congenital anomaly disorders and malignant tumors.	120	135	16	malignant tumors	textual	C0006826, C1306459	Malignant Neoplasms , Primary malignant neoplasm			
1206	10369860	10	We identified five additional copies of the LCR22 on 22q11 that may mediate other rearrangements leading to disease..					No annotation					
1207	10369860	2	Three congenital anomaly disorders, cat-eye syndrome, der() syndrome and velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) are associated with tetrasomy, trisomy or monosomy, respectively, for part of chromosome 22q11.	121	124	4	VCFS	textual - yields annotated code, however, also yields 1 other	C0220704	Shprintzen syndrome			
1207	10369860	2	Three congenital anomaly disorders, cat-eye syndrome, der() syndrome and velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) are associated with tetrasomy, trisomy or monosomy, respectively, for part of chromosome 22q11.	126	128	3	DGS	textual - yields annotated code, however, also yields 1 other	C0012236	DiGeorge Syndrome			
1207	10369860	2	Three congenital anomaly disorders, cat-eye syndrome, der() syndrome and velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) are associated with tetrasomy, trisomy or monosomy, respectively, for part of chromosome 22q11.	7	34	28	congenital anomaly disorders	textual	C0000768	Congenital Abnormality			
1207	10369860	2	Three congenital anomaly disorders, cat-eye syndrome, der() syndrome and velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) are associated with tetrasomy, trisomy or monosomy, respectively, for part of chromosome 22q11.	37	52	16	cat-eye syndrome	textual	C0265493	Cat eye syndrome			
1207	10369860	2	Three congenital anomaly disorders, cat-eye syndrome, der() syndrome and velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) are associated with tetrasomy, trisomy or monosomy, respectively, for part of chromosome 22q11.	55	68	14	der() syndrome	Could not find corresponding UMLS code					
1207	10369860	2	Three congenital anomaly disorders, cat-eye syndrome, der() syndrome and velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) are associated with tetrasomy, trisomy or monosomy, respectively, for part of chromosome 22q11.	74	100	27	velo-cardio-facial syndrome	textual	C0220704	Shprintzen syndrome			
1207	10369860	2	Three congenital anomaly disorders, cat-eye syndrome, der() syndrome and velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) are associated with tetrasomy, trisomy or monosomy, respectively, for part of chromosome 22q11.	102	118	17	DiGeorge syndrome	textual	C0012236	DiGeorge Syndrome			
1207	10369860	2	Three congenital anomaly disorders, cat-eye syndrome, der() syndrome and velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) are associated with tetrasomy, trisomy or monosomy, respectively, for part of chromosome 22q11.	151	159	9	tetrasomy	textual	C0333689	Tetrasomy			
1207	10369860	2	Three congenital anomaly disorders, cat-eye syndrome, der() syndrome and velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) are associated with tetrasomy, trisomy or monosomy, respectively, for part of chromosome 22q11.	162	168	7	trisomy	textual	C0041107	Trisomy			
1207	10369860	2	Three congenital anomaly disorders, cat-eye syndrome, der() syndrome and velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) are associated with tetrasomy, trisomy or monosomy, respectively, for part of chromosome 22q11.	173	180	8	monosomy	textual	C0026499	Monosomy			
1208	10369860	3	VCFS/DGS is the most common syndrome associated with 22q11 rearrangements.	1	4	4	VCFS	intuitive - abstract defines VCFS as "velo-cardio-facial syndrome", a query of VCFS yields annotated code, however, also yields 1 other	C0220704	Shprintzen syndrome			
1208	10369860	3	VCFS/DGS is the most common syndrome associated with 22q11 rearrangements.	6	8	3	DGS	intuitive - abstract defines DGS as "DiGeorge syndrome", a query of DGS yields annotated code, however, also yields 1 other	C0012236	DiGeorge Syndrome			
1209	10369860	4	In order to determine whether there are particular regions on 22q11 that are prone to rearrangements, the deletion end-points in a large number of VCFS/DGS patients were defined by haplotype analysis.	148	151	4	VCFS	intuitive - abstract defines VCFS as "velo-cardio-facial syndrome", a query of VCFS yields annotated code, however, also yields 1 other	C0220704	Shprintzen syndrome			
1209	10369860	4	In order to determine whether there are particular regions on 22q11 that are prone to rearrangements, the deletion end-points in a large number of VCFS/DGS patients were defined by haplotype analysis.	153	155	3	DGS	intuitive - abstract defines DGS as "DiGeorge syndrome", a query of DGS yields annotated code, however, also yields 1 other	C0012236	DiGeorge Syndrome			
1210	10369860	5	Most VCFS/DGS patients have a similar 3 Mb deletion, some have a nested distal deletion breakpoint resulting in a 1.5 Mb deletion and a few rare patients have unique deletions or translocations.	6	9	4	VCFS	intuitive - abstract defines VCFS as "velo-cardio-facial syndrome", a query of VCFS yields annotated code, however, also yields 1 other	C0220704	Shprintzen syndrome			
1210	10369860	5	Most VCFS/DGS patients have a similar 3 Mb deletion, some have a nested distal deletion breakpoint resulting in a 1.5 Mb deletion and a few rare patients have unique deletions or translocations.	11	13	3	DGS	intuitive - abstract defines DGS as "DiGeorge syndrome", a query of DGS yields annotated code, however, also yields 1 other	C0012236	DiGeorge Syndrome			
1211	10369860	6	The high prevalence of the disorder in the population and the fact that most cases occur sporadically suggest that sequences at or near the breakpoints confer susceptibility to chromosome rearrangements.					No annotation					
1212	10369860	7	To investigate this hypothesis, we developed hamster-human somatic hybrid cell lines from VCFS/DGS patients with all three classes of deletions and we now show that the breakpoints occur within similar low copy repeats, termed LCR22s.	91	94	4	VCFS	intuitive - abstract defines VCFS as "velo-cardio-facial syndrome", a query of VCFS yields annotated code, however, also yields 1 other	C0220704	Shprintzen syndrome			
1212	10369860	7	To investigate this hypothesis, we developed hamster-human somatic hybrid cell lines from VCFS/DGS patients with all three classes of deletions and we now show that the breakpoints occur within similar low copy repeats, termed LCR22s.	96	98	3	DGS	intuitive - abstract defines DGS as "DiGeorge syndrome", a query of DGS yields annotated code, however, also yields 1 other	C0012236	DiGeorge Syndrome			
1213	10369860	8	To support this idea further, we identified a family that carries an interstitial duplication of the same 3 Mb region that is deleted in VCFS/DGS patients.	138	141	4	VCFS	intuitive - abstract defines VCFS as "velo-cardio-facial syndrome", a query of VCFS yields annotated code, however, also yields 1 other	C0220704	Shprintzen syndrome			
1213	10369860	8	To support this idea further, we identified a family that carries an interstitial duplication of the same 3 Mb region that is deleted in VCFS/DGS patients.	143	145	3	DGS	intuitive - abstract defines DGS as "DiGeorge syndrome", a query of DGS yields annotated code, however, also yields 1 other	C0012236	DiGeorge Syndrome			
1214	10369860	9	We present models to explain how the LCR22s can mediate different homologous recombination events, thereby generating a number of rearrangements that are associated with congenital anomaly disorders.	171	198	28	congenital anomaly disorders	textual	C0000768	Congenital Abnormality			
1215	10369870	1	The early growth response 2 gene ( EGR2 ) is a Cys2His2zinc finger transcription factor which is thought to play a role in the regulation of peripheral nervous system myelination.					No annotation					
1216	10369870	2	This idea is based partly on the phenotype of homozygous Krox20 ( Egr2 ) knockout mice, which display hypomyelination of the PNS and a block of Schwann cells at an early stage of differentiation.					No annotation					
1217	10369870	4	Three of the four EGR2 mutations are dominant and occur within the zinc finger DNA-binding domain.					No annotation					
1218	10369870	5	The fourth mutation is recessive and affects the inhibitory domain (R1) that binds the NAB transcriptional co-repressors.					No annotation					
1219	10369870	6	A combination of DNA-binding assays and transcriptional analysis was used to determine the functional consequences of these mutations.					No annotation					
1220	10369870	7	The zinc finger mutations affect DNA binding and the amount of residual binding directly correlates with disease severity.					No annotation					
1221	10369870	8	The R1 domain mutation prevents interaction of EGR2 with the NAB co-repressors and thereby increases transcriptional activity.					No annotation					
1222	10369870	9	These data provide insight into the possible disease mechanisms underlying EGR2 mutations and the reason for varying severity and differences in inheritance patterns..					No annotation					
1223	10369876	2	All published mutations affect the signal peptide or the neurophysin-II carrier protein and are presumed to interfere with processing of the preprohormone, leading to neuronal damage.	168	182	15	neuronal damage	Could not find matching UMLS code					
1224	10369876	3	We studied an unusual Palestinian family consisting of asymptomatic first cousin parents and three children affected with neurohypophyseal diabetes insipidus, suggesting autosomal recessive inheritance.	123	157	35	neurohypophyseal diabetes insipidus	textual - yields annotated code	C0687720	Central Diabetes Insipidus			
1225	10369876	4	All three affected children were homozygous and the parents heterozygous for a single novel mutation (C301->T) in exon 1, replacing Pro7 of mature AVP with Leu Leu-AVP.					No annotation					
1226	10369876	5	Leu-AVP was a weak agonist with approximately 30-fold reduced binding to the human V2 receptor.					No annotation					
1227	10369876	6	Measured by radioimmunoassay with a synthetic Leu-AVP standard, serum Leu-AVP levels were elevated in all three children and further increased during water deprivation to as high as 30 times normal.	151	167	17	water deprivation	textual - yields annotated code and 1 other	C0869332	Deprivation of water			
1228	10369876	7	The youngest child (2 years old) was only mildly affected but had Leu-AVP levels similar to her severely affected 8-year-old brother, suggesting that unknown mechanisms may partially compensate for a deficiency of active AVP in very young children..	201	224	24	deficiency of active AVP	intuitive - texts indicates a deficiency of a specific hormone (arginine vasopressin, AVP was defined in abstract).  Could not find a more specific UMLS code	C0599750	hormone deficiency			
1229	10377440	2	No inherited form of GPI-anchor deficiency has been described.	22	42	21	GPI-anchor deficiency	intuitive - abstract explains that GPI-anchor is a protein	C0033626	Protein Deficiency			
1230	10377440	3	Because conventional Piga gene knockout is associated with high embryonic lethality in chimeric mice, we used the Cre/loxP system.					No annotation					
1231	10377440	4	We generated mice in which two loxP sites flank part of Piga exon 2.					No annotation					
1232	10377440	5	After crossbreeding with female mice of the EIIa-cre strain, the floxed allele undergoes Cre-mediated recombination with high efficiency during early embryonic development.					No annotation					
1233	10377440	6	Because of X chromosome inactivation, female offspring are mosaic for cells that express or lack GPI-linked proteins.					No annotation					
1234	10377440	7	Analysis of mosaic mice showed that in heart, lung, kidney, brain, and liver, mainly wild-type Piga is active, suggesting that these tissues require GPI-linked proteins.					No annotation					
1235	10377440	8	The salient exceptions were spleen, thymus, and red blood cells, which had almost equal numbers of cells expressing the wild-type or the recombined allele, implying that GPI-linked proteins are not essential for the derivation of these tissues.					No annotation					
1236	10381492	1	Targeted mutagenesis was used to produce two mutations in the murine hemochromatosis gene (Hfe) locus.	10	20	11	mutagenesis	textual	C0079866	Mutagenesis			
1236	10381492	1	Targeted mutagenesis was used to produce two mutations in the murine hemochromatosis gene (Hfe) locus.	70	84	15	hemochromatosis	textual - yields annotated code along with code for HFE gene.  Included is a possible alternative/synonym	C0018995	Hemochromatosis	Hereditary hemochromatosis [C0392514]		
1237	10381492	10	We conclude that the C282Y mutation does not result in a null allele..					No annotation					
1238	10381492	2	The first mutation deletes a large portion of the coding sequence, generating a null allele.					No annotation					
1239	10381492	3	The second mutation introduces a missense mutation (C282Y) into the Hfe locus, but otherwise leaves the gene intact.					No annotation					
1240	10381492	4	This mutation is identical to the disease-causing mutation in patients with hereditary hemochromatosis.	77	102	26	hereditary hemochromatosis	textual - yields annotated code along with code for HFE gene.  Included is a possible alternative/synonym	C0392514	Hereditary hemochromatosis	"C0018995	Hemochromatosis  "		
1241	10381492	5	Mice carrying each of the two mutations were bred and analyzed.					No annotation					
1242	10381492	6	Homozygosity for either mutation results in postnatal iron loading.					No annotation					
1243	10381492	7	The effects of the null mutation are more severe than the effects of the C282Y mutation.					No annotation					
1244	10381492	8	Mice heterozygous for either mutation accumulate more iron than normal controls.					No annotation					
1245	10381492	9	Interestingly, although liver iron stores are greatly increased, splenic iron is decreased.					No annotation					
1246	10382909	2	Most emerin mutations result in absence of the protein.					No annotation					
1247	10382909	3	In this study three mutations (a missense mutation Pro183Thr and two in-frame deletions removing residues 95-99 and 236-241, respectively) were unusual in being associated with expression of mutant protein.					No annotation					
1248	10382909	4	The phenotype in these families was compared in detail with the clinical features in cases with typical null mutations.					No annotation					
1249	10382909	5	For the in-frame deletions there were no significant differences.					No annotation					
1250	10382909	6	In the family with the missense mutation the phenotype was milder.					No annotation					
1251	10382909	7	Age at onset was later for first symptoms and for development of ankle contractures and muscle weakness.	66	83	18	ankle contractures	textual - yields 2 UMLS codes	C1849374,  C1837407	Ankle contracture, Contractures of the ankles			
1251	10382909	7	Age at onset was later for first symptoms and for development of ankle contractures and muscle weakness.	89	103	15	muscle weakness	textual	C0151786	Muscle Weakness			
1252	10382909	8	These findings have diagnostic implications as well as pointing to functionally important regions of the emerin protein..					No annotation					
1253	10382910	1	X-linked Emery-Dreifuss muscular dystrophy (EDMD) is a relatively rare benign neuromuscular disorder which can vary remarkably in onset, course and severity.	45	48	4	EDMD	textual - yields annotated code	C0751337	X-Linked Emery-Dreifuss Muscular Dystrophy	[ C0410189 ] Muscular Dystrophy, Emery-Dreifuss		
1253	10382910	1	X-linked Emery-Dreifuss muscular dystrophy (EDMD) is a relatively rare benign neuromuscular disorder which can vary remarkably in onset, course and severity.	1	42	42	X-linked Emery-Dreifuss muscular dystrophy	textual	C0751337	X-Linked Emery-Dreifuss Muscular Dystrophy	[ C0410189 ] Muscular Dystrophy, Emery-Dreifuss		
1253	10382910	1	X-linked Emery-Dreifuss muscular dystrophy (EDMD) is a relatively rare benign neuromuscular disorder which can vary remarkably in onset, course and severity.	79	100	22	neuromuscular disorder	textual	C0027868	Neuromuscular Diseases			
1254	10382910	2	In the present study, a TCTAC deletion spanning the nucleotides 631-635 of the emerin gene caused an unusually severe disease phenotype including loss of ambulation and severe muscle wasting in two affected brothers.	147	164	18	loss of ambulation	textual - text does not yield annotated UMLS code	C0311394	Difficulty walking			
1254	10382910	2	In the present study, a TCTAC deletion spanning the nucleotides 631-635 of the emerin gene caused an unusually severe disease phenotype including loss of ambulation and severe muscle wasting in two affected brothers.	177	190	14	muscle wasting	textual	C0026846	Muscular Atrophy			
1255	10382910	3	The same mutation has been reported previously in an unrelated family showing a significantly milder phenotype.					No annotation					
1256	10382910	4	The interfamilial heterogeneity in distribution and in severity of the features in the two families point to environmental or genetic modification as the cause of clinical variability in Emery-Dreifuss muscular dystrophy..	188	220	33	Emery-Dreifuss muscular dystrophy	textual - yields annotated code	C0410189	Muscular Dystrophy, Emery-Dreifuss	"C0751337	X-Linked Emery-Dreifuss Muscular Dystrophy "		
1257	10398279	1	BACKGROUND: Families with a high incidence of hereditary breast cancer, and subsequently shown to have terminating mutations in BRCA1 or BRCA2, appear to have a higher incidence of prostate cancer among male relatives.	47	70	24	hereditary breast cancer	textual	C0346153	Familial cancer of breast			
1257	10398279	1	BACKGROUND: Families with a high incidence of hereditary breast cancer, and subsequently shown to have terminating mutations in BRCA1 or BRCA2, appear to have a higher incidence of prostate cancer among male relatives.	182	196	15	prostate cancer	textual	C0376358, C0600139	Malignant neoplasm of prostate, Prostate carcinoma			
1258	10398279	2	We aimed to determine whether the common germline mutations of BRCA1 or BRCA2 in Ashkenazi Jewish men predisposed them to prostate cancer.	123	137	15	prostate cancer	textual	C0376358, C0600139	Malignant neoplasm of prostate, Prostate carcinoma			
1259	10398279	3	METHODS: We examined genomic DNA from 83 (for BRCA1 185delAG) or 82 (for BRCA2 6174delT) Ashkenazi Jewish prostate cancer patients, most of whom were treated at a relatively young age, for the most common germline mutation in each gene seen in the Ashkenazi population.	107	121	15	prostate cancer	textual	C0376358, C0600139	Malignant neoplasm of prostate, Prostate carcinoma			
1260	10398279	4	RESULTS: Our study should have been able to detect a 4-5-fold increase in the risk of prostate cancer due to mutation of BRCA1 or BRCA2.	87	101	15	prostate cancer	textual	C0376358, C0600139	Malignant neoplasm of prostate, Prostate carcinoma			
1261	10398279	5	However, only one (1.15%; 95% confidence interval, 0-3.6%) of the patients was heterozygous for the BRCA1 mutant allele, and only two were heterozygous for the BRCA2 mutation 2.4%; 95% confidence interval, 0-6.2%.					No annotation					
1262	10398279	6	CONCLUSIONS: The incidence of each of the germline mutations in these prostate cancer patients closely matched their incidence (about 1%) in the general Ashkenazi Jewish population.	71	85	15	prostate cancer	textual	C0376358, C0600139	Malignant neoplasm of prostate, Prostate carcinoma			
1263	10398436	1	Hepatoblastoma is a rare malignant tumor of the liver that occurs in children at an average age of 2 to 3 years.	1	14	14	Hepatoblastoma	textual	C0206624	Hepatoblastoma			
1263	10398436	1	Hepatoblastoma is a rare malignant tumor of the liver that occurs in children at an average age of 2 to 3 years.	26	53	28	malignant tumor of the liver	textual	C0345904	Malignant neoplasm of liver			
1264	10398436	2	Epidemiologic studies have shown an increased frequency of this tumor type in families affected by adenomatous polyposis coli.	65	69	5	tumor	textual - yields annotated code, however, also yields 1 other	C0027651	Neoplasms			
1264	10398436	2	Epidemiologic studies have shown an increased frequency of this tumor type in families affected by adenomatous polyposis coli.	100	125	26	adenomatous polyposis coli	textual	C0032580	Adenomatous Polyposis Coli			
1265	10398436	3	In addition to the epidemiologic data, molecular genetic studies suggest that inactivation of the APC tumor suppressor may be involved in hepatoblastoma tumorigenesis.	103	107	5	tumor	textual - yields annotated code, however, also yields 1 other	C0027651	Neoplasms			
1265	10398436	3	In addition to the epidemiologic data, molecular genetic studies suggest that inactivation of the APC tumor suppressor may be involved in hepatoblastoma tumorigenesis.	139	152	14	hepatoblastoma	textual	C0206624	Hepatoblastoma			
1265	10398436	3	In addition to the epidemiologic data, molecular genetic studies suggest that inactivation of the APC tumor suppressor may be involved in hepatoblastoma tumorigenesis.	154	166	13	tumorigenesis	textual	C1326912	Tumorigenesis			
1267	10398436	5	In an ongoing immunohistochemical study of beta-catenin expression in sporadic cases of tumor types that are associated with adenomatous polyposis coli, we observed increased beta-catenin levels in the cytoplasm and in the nuclei of three investigated hepatoblastomas.	89	93	5	tumor	textual - yields annotated code, however, also yields 1 other	C0027651	Neoplasms			
1267	10398436	5	In an ongoing immunohistochemical study of beta-catenin expression in sporadic cases of tumor types that are associated with adenomatous polyposis coli, we observed increased beta-catenin levels in the cytoplasm and in the nuclei of three investigated hepatoblastomas.	126	151	26	adenomatous polyposis coli	textual	C0032580	Adenomatous Polyposis Coli			
1267	10398436	5	In an ongoing immunohistochemical study of beta-catenin expression in sporadic cases of tumor types that are associated with adenomatous polyposis coli, we observed increased beta-catenin levels in the cytoplasm and in the nuclei of three investigated hepatoblastomas.	253	267	15	hepatoblastomas	textual	C0206624	Hepatoblastoma			
1268	10398436	6	Sequencing of exon 3 of the beta-catenin gene (CTNNB1) revealed an activating mutation in one of the tumor samples.	102	106	5	tumor	textual - yields annotated code, however, also yields 1 other	C0027651	Neoplasms			
1269	10398436	7	Our data indicate for the first time that beta-catenin accumulation may play a role in the development of hepatoblastoma and that activating mutations of the beta-catenin gene may substitute biallelic APC inactivation in this tumor type.	107	120	14	hepatoblastoma	textual	C0206624	Hepatoblastoma			
1269	10398436	7	Our data indicate for the first time that beta-catenin accumulation may play a role in the development of hepatoblastoma and that activating mutations of the beta-catenin gene may substitute biallelic APC inactivation in this tumor type.	227	231	5	tumor	textual - yields annotated code, however, also yields 1 other	C0027651	Neoplasms			
1270	10398436	8	Genes Chromosomes Cancer 25:399-402, 1999..	19	24	6	Cancer	textual - yields annotated codes, however, also yields 2 others	C0006826,C1306459 	Malignant Neoplasms, Primary malignant neoplasm			
1271	10403837	1	Hereditary progressive dystonia with marked diurnal fluctuation (HPD; dopa-responsive dystonia, DRD) have been recently found to be caused by a genetic defect in the GTP cyclohydrolase I (GCH1) gene.	66	68	3	HPD	textual - does not yield annotated code	C0752207	Familial Dystonia			
1271	10403837	1	Hereditary progressive dystonia with marked diurnal fluctuation (HPD; dopa-responsive dystonia, DRD) have been recently found to be caused by a genetic defect in the GTP cyclohydrolase I (GCH1) gene.	97	99	3	DRD	textual	C1851920	DYSTONIA, DOPA-RESPONSIVE			
1271	10403837	1	Hereditary progressive dystonia with marked diurnal fluctuation (HPD; dopa-responsive dystonia, DRD) have been recently found to be caused by a genetic defect in the GTP cyclohydrolase I (GCH1) gene.	1	31	31	Hereditary progressive dystonia	textual - text does not yield UMLS code, a query of "Hereditary dystonia" yields annotated code	C0752207	Familial Dystonia			
1271	10403837	1	Hereditary progressive dystonia with marked diurnal fluctuation (HPD; dopa-responsive dystonia, DRD) have been recently found to be caused by a genetic defect in the GTP cyclohydrolase I (GCH1) gene.	45	63	19	diurnal fluctuation	textual	C1970037	Diurnal fluctuation			
1271	10403837	1	Hereditary progressive dystonia with marked diurnal fluctuation (HPD; dopa-responsive dystonia, DRD) have been recently found to be caused by a genetic defect in the GTP cyclohydrolase I (GCH1) gene.	71	94	24	dopa-responsive dystonia	textual	C1851920	DYSTONIA, DOPA-RESPONSIVE			
1272	10403837	2	In this study, we quantified the mRNA level of GCH1 in phytohemagglutinin (PHA)-stimulated mononuclear blood cells from one Japanese family that do not have a mutation in the coding region or splice junctions of the gene.					No annotation					
1273	10403837	3	The results showed that the amounts of the GCH1 mRNA were decreased to about 40% of the normal level in both patients and carriers.					No annotation					
1274	10403837	4	In addition, we found that the GCH1 mRNA was transcribed from only one allele, indicating that the other allele was in an inactive state.					No annotation					
1275	10403837	5	These results suggest that some novel mutations should exist on one of the alleles in some unknown region of the GCH1 gene, and may decrease the GCH1 mRNA causing the HPD/DRD symptoms..	168	170	3	HPD	intuitive - HPD was defined as "Hereditary progressive dystonia" in the abstract, a query of hereditary dystonia yields annotated code	C0752207	Familial Dystonia			
1275	10403837	5	These results suggest that some novel mutations should exist on one of the alleles in some unknown region of the GCH1 gene, and may decrease the GCH1 mRNA causing the HPD/DRD symptoms..	172	174	3	DRD	intuitive - DRD was defines as "dopa-responsive dystonia" in the abstract, a query of DRD yields annotated code.	C1851920	DYSTONIA, DOPA-RESPONSIVE			
1276	10404839	1	Pendred syndrome is the most common form of syndromic deafness, characterized by dyshormonogenic goiter associated with sensory-neural deafness.	1	16	16	Pendred syndrome	textual	C0271829	Pendred`s syndrome			
1276	10404839	1	Pendred syndrome is the most common form of syndromic deafness, characterized by dyshormonogenic goiter associated with sensory-neural deafness.	55	62	8	deafness	textual	C0581883, C0011053 	Complete Hearing Loss, Deafness			
1276	10404839	1	Pendred syndrome is the most common form of syndromic deafness, characterized by dyshormonogenic goiter associated with sensory-neural deafness.	82	103	22	dyshormonogenic goiter	textual	C0152077	Dyshormonogenic goiter			
1276	10404839	1	Pendred syndrome is the most common form of syndromic deafness, characterized by dyshormonogenic goiter associated with sensory-neural deafness.	121	143	23	sensory-neural deafness	textual	C0018784	Sensorineural Hearing Loss			
1277	10404839	2	The gene responsible for the disease (PDS) has been cloned, but its function is as yet unknown and the connection between thyroid goiter and sensory-neural deafness remains an enigma.	30	36	7	disease	intuitive - disease is in reference to "pendred syndrome" in the abstract	C0271829	Pendred`s syndrome			
1277	10404839	2	The gene responsible for the disease (PDS) has been cloned, but its function is as yet unknown and the connection between thyroid goiter and sensory-neural deafness remains an enigma.	123	136	14	thyroid goiter	textual	C0018021	Goiter			
1277	10404839	2	The gene responsible for the disease (PDS) has been cloned, but its function is as yet unknown and the connection between thyroid goiter and sensory-neural deafness remains an enigma.	142	164	23	sensory-neural deafness	textual	C0018784	Sensorineural Hearing Loss			
1278	10404839	3	PDS codes for a novel protein, pendrin, which is closely related to a number of sufate transporters.					*					
1279	10404839	4	Mechanisms by which abnormal sulfate transport could deleteriously affect iodide organification have been proposed.					No annotation					
1280	10404839	5	We tested sulfate transport in thyrocytes obtained from Pendred syndrome patients and found that it was not defective.	57	72	16	Pendred syndrome	textual	C0271829	Pendred`s syndrome			
1281	10404839	6	This suggests that pendrin in fact may not be a sulfate transporter, and emphasizes the importance of functional studies on this novel protein..					No annotation					
1282	10406661	1	Kniest dysplasia is a moderately severe type II collagenopathy, characterized by short trunk and limbs, kyphoscoliosis, midface hypoplasia, severe myopia, and hearing loss.	1	16	16	Kniest dysplasia	textual	C0265279	Kniest dysplasia			
1282	10406661	1	Kniest dysplasia is a moderately severe type II collagenopathy, characterized by short trunk and limbs, kyphoscoliosis, midface hypoplasia, severe myopia, and hearing loss.	41	62	22	type II collagenopathy	Could not find matching UMLS code					
1282	10406661	1	Kniest dysplasia is a moderately severe type II collagenopathy, characterized by short trunk and limbs, kyphoscoliosis, midface hypoplasia, severe myopia, and hearing loss.	82	92	11	short trunk	textual	C0521527	Shortened trunk			
1282	10406661	1	Kniest dysplasia is a moderately severe type II collagenopathy, characterized by short trunk and limbs, kyphoscoliosis, midface hypoplasia, severe myopia, and hearing loss.	82	102	21	short trunk and limbs	intuitive - list is present, a query of "short limbs" yields annotated code	C0239399	Short extremities			
1282	10406661	1	Kniest dysplasia is a moderately severe type II collagenopathy, characterized by short trunk and limbs, kyphoscoliosis, midface hypoplasia, severe myopia, and hearing loss.	105	118	14	kyphoscoliosis	textual - yields annotated code along with alternative code and 1 other.	C0575158	Kyphoscoliosis deformity of spine	Congenital kyphoscoliosis [C0345392]		
1282	10406661	1	Kniest dysplasia is a moderately severe type II collagenopathy, characterized by short trunk and limbs, kyphoscoliosis, midface hypoplasia, severe myopia, and hearing loss.	129	138	10	hypoplasia	textual	C0243069	Hypoplasia			
1282	10406661	1	Kniest dysplasia is a moderately severe type II collagenopathy, characterized by short trunk and limbs, kyphoscoliosis, midface hypoplasia, severe myopia, and hearing loss.	148	153	6	myopia	textual - yields annotated code and 1 other	C0027092	Myopia			
1282	10406661	1	Kniest dysplasia is a moderately severe type II collagenopathy, characterized by short trunk and limbs, kyphoscoliosis, midface hypoplasia, severe myopia, and hearing loss.	160	171	12	hearing loss	textual - yields annotated code, I've included 2 possible alternatives	C1384666	hearing impairment	C0581883, C0011053 Complete Hearing Loss, Deafness  		
1283	10406661	2	Mutations in the gene that encodes type II collagen (COL2A1), the predominant protein of cartilage, have been identified in a number of individuals with Kniest dysplasia.	154	169	16	Kniest dysplasia	textual	C0265279	Kniest dysplasia			
1284	10406661	3	All but two of these previously described mutations cause in-frame deletions in type II collagen, either by small deletions in the gene or splice site alterations.					No annotation					
1285	10406661	4	Furthermore, all but one of these mutations is located between exons 12 and 24 in the COL2A1 gene.					No annotation					
1286	10406661	5	We used heteroduplex analysis to identify sequence anomalies in five individuals with Kniest dysplasia.	87	102	16	Kniest dysplasia	textual	C0265279	Kniest dysplasia			
1287	10406661	7	A previously described 28-bp deletion at the COL2A1 exon 12-intron 12 junction, deleting the splice donor site, was identified in the fifth case.					No annotation					
1288	10406661	8	The latter three mutations are predicted to result in exon skipping in the mRNA encoded from the mutant allele.					No annotation					
1289	10408771	10	In vitro expression results are discrepant, but some individuals carrying S135L appear to exhibit GALT activity in some tissues.					No annotation					
1290	10408771	11	Duarte 1 (or Los Angeles) and Duarte 2 (or Duarte) variants carry the same amino acid substitution, N314D, even though D1 is associated with increased erythrocyte GALT activity and D2 with reduced activity.	1	8	8	Duarte 1	intuitive - According to the abstract, Duarte 1 and 2 are both variants of classical galactosemia.	C0268151	Classical galactosemia	[ C0016952 ] Galactosemias		
1290	10408771	11	Duarte 1 (or Los Angeles) and Duarte 2 (or Duarte) variants carry the same amino acid substitution, N314D, even though D1 is associated with increased erythrocyte GALT activity and D2 with reduced activity.	31	38	8	Duarte 2	intuitive - According to the abstract, Duarte 1 and 2 are both variants of classical galactosemia.	C0268151	Classical galactosemia	[ C0016952 ] Galactosemias		
1291	10408771	12	N314D is in linkage disequilibrium with other base changes that differ on the D1 and D2 alleles.					*					
1292	10408771	13	N314D does not impair GALT activity in in vitro expression systems.					*					
1293	10408771	14	However, there are differences in the abundance of GALT protein in lymphoblastoid cells lines from D2 and D1 individuals.					*					
1294	10408771	15	It is unclear whether the specific molecular changes that distinguish the D1 and D2 alleles account for the different activities.					*					
1295	10408771	16	The considerable genetic heterogeneity documented to date undoubtedly contributes to the phenotypic heterogeneity that is observed in galactosemia.	135	146	12	galactosemia	textual - yields alternative code	C0268151	Classical galactosemia	[ C0016952 ] Galactosemias		
1296	10408771	17	The additional effects of nonallelic variation and other constitutional factors on phenotypic variability remain to be elucidated..					No annotation					
1297	10408771	2	The disorder exhibits considerable allelic heterogeneity and, at the end of 1998, more than 150 different base changes were recorded in 24 different populations and ethnic groups in 15 countries worldwide.					No annotation					
1298	10408771	3	The mutations most frequently cited are Q188R, K285N, S135L, and N314D.					No annotation					
1299	10408771	4	Q188R is the most common mutation in European populations or in those predominantly of European descent.					No annotation					
1300	10408771	5	Overall, it accounts for 60-70% of mutant chromosomes, but there are significant differences in its relative frequency in individual populations.					No annotation					
1301	10408771	6	Individuals homoallelic for Q188R tend to have a severe phenotype and this is in keeping with the virtually complete loss of enzyme activity observed in in vitro expression systems.	118	140	23	loss of enzyme activity	Could not find suitable UMLS code					
1302	10408771	7	Globally, K285N is rarer, but in many European populations it can be found on 25-40% of mutant chromosomes.					No annotation					
1303	10408771	8	It is invariably associated with a severe phenotype.					No annotation					
1304	10408771	9	S135L is found almost exclusively in African Americans.					No annotation					
1305	10408776	10	We then analyzed the occurrence of RCC in VHL families, based on the nature of mutations.	43	45	3	VHL	intuitive - abstract defines VHL as "von Hippel-Lindau", a query of "von Hippel" yields annotated code	C0019562	Von Hippel-Lindau Syndrome			
1306	10408776	11	We observed RCC in at least one member of the VHL families in 77% of cases with mutations leading to truncated proteins versus 55% in cases with missense mutations P < 0.05.	13	15	3	RCC	intuitive - abstract defines RCC as "renal cell carcinoma", a query of RCC yields annotated code and 2 others	C0007134	Renal Cell Carcinoma			
1306	10408776	11	We observed RCC in at least one member of the VHL families in 77% of cases with mutations leading to truncated proteins versus 55% in cases with missense mutations P < 0.05.	47	49	3	VHL	intuitive - abstract defines VHL as "von Hippel-Lindau", a query of VHL yields annotated code and 2 others	C0019562	Von Hippel-Lindau Syndrome			
1307	10408776	12	Thus, mutations resulting in truncated proteins may lead to a higher risk of RCC in VHL patients..	78	80	3	RCC	intuitive - abstract defines RCC as "renal cell carcinoma", a query of RCC yields annotated code and 2 others	C0007134	Renal Cell Carcinoma			
1307	10408776	12	Thus, mutations resulting in truncated proteins may lead to a higher risk of RCC in VHL patients..	85	87	3	VHL	intuitive - abstract defines VHL as "von Hippel-Lindau", a query of VHL yields annotated code and 2 others	C0019562	Von Hippel-Lindau Syndrome			
1308	10408776	2	We detected abnormal SSCP pattern in 73 samples.					No annotation					
1309	10408776	3	After sequencing, we identified microdeletions in 58% of cases, microinsertions in 17%, nonsense mutations in 8%, and missense mutations in 17%.					No annotation					
1310	10408776	4	Among these mutations, 50% correspond to new mutations.					No annotation					
1311	10408776	6	To compare somatic and germline mutations, we used the VHL database, which includes 507 mutations.	56	58	3	VHL	intuitive - abstract defines VHL as "von Hippel-Lindau", a query of VHL yields annotated code and 2 others	C0019562	Von Hippel-Lindau Syndrome			
1312	10408776	7	The study of mutational events revealed a significant difference between somatic and germline mutations with mutations leading to truncated proteins observed in 78% of somatic mutations vs only 37% in germline mutations P < 0.001.					No annotation					
1313	10408776	8	We postulated that a specific pattern of VHL mutations is associated with sporadic RCC.	84	86	3	RCC	intuitive - abstract defines RCC as "renal cell carcinoma", a query of RCC yields annotated code and 2 others	C0007134	Renal Cell Carcinoma			
1314	10408776	9	This pattern corresponds to mutations leading mainly to truncated proteins with few specific missense mutations.					No annotation					
1315	10411929	1	Cytotoxic T lymphocyte-associated antigen 4 (CTLA-4, also known as CD152) has been shown to play a major role in the regulation of T cell activation.					No annotation					
1316	10411929	2	Its membrane expression is highly regulated by endocytosis and trafficking through the secretory lysosome pathway.					No annotation					
1317	10411929	4	It results in defective membrane targeting of the proteins present in secretory lysosomes, and it is associated with a variety of features, including a lymphoproliferative syndrome with hemophagocytosis.	153	180	28	lymphoproliferative syndrome	textual - does not yield annotated code however	C1328840	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME			
1317	10411929	4	It results in defective membrane targeting of the proteins present in secretory lysosomes, and it is associated with a variety of features, including a lymphoproliferative syndrome with hemophagocytosis.	187	202	16	hemophagocytosis	textual	C0876991	Histiocytosis haematophagic			
1318	10411929	5	The murine equivalent of CHS, beige mice, present similar characteristics but do not develop the lymphoproliferative syndrome.	26	28	3	CHS	intuitive - abstract defines CHS as "Chediak-Higashi syndrome", a query of CHS yields annotated code, however, also yields 5 others	C0007965	chediak-higashi syndrome			
1318	10411929	5	The murine equivalent of CHS, beige mice, present similar characteristics but do not develop the lymphoproliferative syndrome.	98	125	28	lymphoproliferative syndrome	textual - does not yield annotated code however	C1328840	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME			
1319	10411929	6	We show herein that CTLA-4 is present in enlarged, abnormal vesicles in CHS T cells and is not properly expressed at the cell surface after T cell activation, whereas its surface expression is not impaired.	73	75	3	CHS	intuitive - abstract defines CHS as "Chediak-Higashi syndrome", a query of CHS yields annotated code, however, also yields 5 others	C0007965	chediak-higashi syndrome			
1320	10411929	7	It is therefore proposed that the defective surface expression of CTLA-4 by CHS T cells is involved in the generation of lymphoproliferative disease.	77	79	3	CHS	intuitive - abstract defines CHS as "Chediak-Higashi syndrome", a query of CHS yields annotated code, however, also yields 5 others	C0007965	chediak-higashi syndrome			
1320	10411929	7	It is therefore proposed that the defective surface expression of CTLA-4 by CHS T cells is involved in the generation of lymphoproliferative disease.	122	148	27	lymphoproliferative disease	textual - does not yield annotated code however	C1328840	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME			
1321	10411929	8	This observation may provide insight into the role of CTLA-4 in humans..					No annotation					
1322	10417279	1	Pelizaeus-Merzbacher Disease (PMD) is an X-linked developmental defect of myelination affecting the central nervous system and segregating with the proteolipoprotein (PLP) locus.	31	33	3	PMD	textual - yields annotated code, however, also yields 2 others	C0205711	Pelizaeus-Merzbacher Disease			
1322	10417279	1	Pelizaeus-Merzbacher Disease (PMD) is an X-linked developmental defect of myelination affecting the central nervous system and segregating with the proteolipoprotein (PLP) locus.	1	28	28	Pelizaeus-Merzbacher Disease	textual	C0205711	Pelizaeus-Merzbacher Disease			
1322	10417279	1	Pelizaeus-Merzbacher Disease (PMD) is an X-linked developmental defect of myelination affecting the central nervous system and segregating with the proteolipoprotein (PLP) locus.	65	85	21	defect of myelination	Could not find suitable UMLS code					
1323	10417279	2	Investigating 82 strictly selected sporadic cases of PMD, we found PLP mutations in 77%; complete PLP-gene duplications were the most frequent abnormality (62%), whereas point mutations in coding or splice-site regions of the gene were involved less frequently 38%.	54	56	3	PMD	intuitive - abstract defines PMD as "Pelizaeus-Merzbacher Disease", a query of PMD yields annotated code, however, also yields 2 others	C0205711	Pelizaeus-Merzbacher Disease			
1324	10417279	3	We analyzed the maternal status of 56 cases to determine the origin of both types of PLP mutation, since this is relevant to genetic counseling.					No annotation					
1325	10417279	4	In the 22 point mutations, 68% of mothers were heterozygous for the mutation, a value identical to the two-thirds of carrier mothers that would be expected if there were an equal mutation rate in male and female germ cells.					No annotation					
1326	10417279	5	In sharp contrast, among the 34 duplicated cases, 91% of mothers were carriers, a value significantly (chi2=9. 20, P<.01) in favor of a male bias, with an estimation of the male/female mutation frequency (k) of 9.3.					No annotation					
1327	10417279	6	Moreover, we observed the occurrence of de novo mutations between parental and grandparental generations in 17 three-generation families, which allowed a direct estimation of the k value k=11.					No annotation					
1328	10417279	7	Again, a significant male mutation imbalance was observed only for the duplications.					No annotation					
1329	10417279	8	The mechanism responsible for this strong male bias in the duplications may involve an unequal sister chromatid exchange, since two deletion events, responsible for mild clinical manifestations, have been reported in PLP-related diseases..					No annotation					
1330	10417280	1	Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct neurobehavioral disorders that most often arise from a 4-Mb deletion of chromosome 15q11-q13 during paternal or maternal gametogenesis, respectively.	24	26	3	PWS	textual	C0032897	Prader-Willi Syndrome			
1330	10417280	1	Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct neurobehavioral disorders that most often arise from a 4-Mb deletion of chromosome 15q11-q13 during paternal or maternal gametogenesis, respectively.	52	53	2	AS	textual - yields annotated code, however, also yields 11 others	C0162635	Angelman Syndrome			
1330	10417280	1	Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct neurobehavioral disorders that most often arise from a 4-Mb deletion of chromosome 15q11-q13 during paternal or maternal gametogenesis, respectively.	1	21	21	Prader-Willi syndrome	textual	C0032897	Prader-Willi Syndrome			
1330	10417280	1	Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct neurobehavioral disorders that most often arise from a 4-Mb deletion of chromosome 15q11-q13 during paternal or maternal gametogenesis, respectively.	33	49	17	Angelman syndrome	textual	C0162635	Angelman Syndrome			
1330	10417280	1	Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct neurobehavioral disorders that most often arise from a 4-Mb deletion of chromosome 15q11-q13 during paternal or maternal gametogenesis, respectively.	69	93	25	neurobehavioral disorders	Could not find suitable UMLS code					
1331	10417280	2	At a de novo frequency of approximately.67-1/10,000 births, these deletions represent a common structural chromosome change in the human genome.					No annotation					
1332	10417280	3	To elucidate the mechanism underlying these events, we characterized the regions that contain two proximal breakpoint clusters and a distal cluster.					No annotation					
1333	10417280	4	Novel DNA sequences potentially associated with the breakpoints were positionally cloned from YACs within or near these regions.					No annotation					
1334	10417280	5	Analyses of rodent-human somatic-cell hybrids, YAC contigs, and FISH of normal or rearranged chromosomes 15 identified duplicated sequences (the END repeats) at or near the breakpoints.					No annotation					
1335	10417280	6	The END-repeat units are derived from large genomic duplications of a novel gene (HERC2), many copies of which are transcriptionally active in germline tissues.					No annotation					
1336	10417280	7	One of five PWS/AS patients analyzed to date has an identifiable, rearranged HERC2 transcript derived from the deletion event.	13	15	3	PWS	intuitive - abstract defined PWS as "Prader-Willi syndrome", a query of PWS yields annotated code	C0032897	Prader-Willi Syndrome			
1336	10417280	7	One of five PWS/AS patients analyzed to date has an identifiable, rearranged HERC2 transcript derived from the deletion event.	17	18	2	AS	intuitive - abstract defines AS "Angelman Syndrome", a query of AS yields annotated code, however, also yields 11 others	C0162635	Angelman Syndrome			
1337	10417280	8	We postulate that the END repeats flanking 15q11-q13 mediate homologous recombination resulting in deletion.					No annotation					
1338	10417280	9	Furthermore, we propose that active transcription of these repeats in male and female germ cells may facilitate the homologous recombination process..					No annotation					
1340	10417286	3	Both the occurrence of CL/P and CP within the same genealogy and a recurrence risk <40% for CP among descendants with VWS have suggested that the development of clefts in this syndrome is influenced by modifying genes at other loci.	24	27	4	CL/P	intuitive - was defined in abstract as "cleft lip/palate", a query of CL/P does not yield annotated code	C0158646	Cleft palate with cleft lip			
1340	10417286	3	Both the occurrence of CL/P and CP within the same genealogy and a recurrence risk <40% for CP among descendants with VWS have suggested that the development of clefts in this syndrome is influenced by modifying genes at other loci.	33	34	2	CP	intuitive - was defined in abstract as "cleft palate", a query of CP does not yield annotated code	C0008925	Cleft Palate			
1340	10417286	3	Both the occurrence of CL/P and CP within the same genealogy and a recurrence risk <40% for CP among descendants with VWS have suggested that the development of clefts in this syndrome is influenced by modifying genes at other loci.	93	94	2	CP	intuitive - was defined in abstract as "cleft palate", a query of CP does not yield annotated code	C0008925	Cleft Palate			
1340	10417286	3	Both the occurrence of CL/P and CP within the same genealogy and a recurrence risk <40% for CP among descendants with VWS have suggested that the development of clefts in this syndrome is influenced by modifying genes at other loci.	119	121	3	VWS	intuitive - abstract defines VWS as "van der Woude syndrome", a query of VWS yields annotated code	C0175697	Van der Woude syndrome			
1340	10417286	3	Both the occurrence of CL/P and CP within the same genealogy and a recurrence risk <40% for CP among descendants with VWS have suggested that the development of clefts in this syndrome is influenced by modifying genes at other loci.	162	167	6	clefts	intuitive - clefts is referring to the following in context	C0158646,  C0008925	Cleft palate with cleft lip, Cleft Palate 			
1341	10417286	4	To test this hypothesis, we have conducted linkage analysis in a large Brazilian kindred with VWS, considering as affected the individuals with CP, regardless of whether it is associated with other clinical signs of VWS.	95	97	3	VWS	intuitive - abstract defines VWS as "van der Woude syndrome", a query of VWS yields annotated code	C0175697	Van der Woude syndrome			
1341	10417286	4	To test this hypothesis, we have conducted linkage analysis in a large Brazilian kindred with VWS, considering as affected the individuals with CP, regardless of whether it is associated with other clinical signs of VWS.	145	146	2	CP	intuitive - was defined in abstract as "cleft palate", a query of CP does not yield annotated code	C0008925	Cleft Palate			
1341	10417286	4	To test this hypothesis, we have conducted linkage analysis in a large Brazilian kindred with VWS, considering as affected the individuals with CP, regardless of whether it is associated with other clinical signs of VWS.	217	219	3	VWS	intuitive - abstract defines VWS as "van der Woude syndrome", a query of VWS yields annotated code	C0175697	Van der Woude syndrome			
1342	10417286	5	Our results suggest that a gene at 17p11.2-11.1, together with the VWS gene at 1p32-41, enhances the probability of CP in an individual carrying the two at-risk genes.	117	118	2	CP	intuitive - was defined in abstract as "cleft palate", a query of CP does not yield annotated code	C0008925	Cleft Palate			
1343	10417286	6	If this hypothesis is confirmed in other VWS pedigrees, it will represent one of the first examples of a gene, mapped through linkage analysis, which modifies the expression of a major gene.	42	44	3	VWS	intuitive - abstract defines VWS as "van der Woude syndrome", a query of VWS yields annotated code	C0175697	Van der Woude syndrome			
1344	10417286	7	It will also have important implications for genetic counseling, particularly for more accurately predicting recurrence risks of clefts among the offspring of patients with VWS..	174	176	3	VWS	intuitive - abstract defines VWS as "van der Woude syndrome", a query of VWS yields annotated code	C0175697	Van der Woude syndrome			
1345	10425038	10	Defining polymorphic sites as well as mutations in the ATM gene will be of great importance in designing automated methods for detecting mutations..					No annotation					
1346	10425038	2	ATM mutations are found along the entire gene, with no evidence of a mutational hot spot.					No annotation					
1347	10425038	3	Using DNA as the starting material, we screened the ATM gene in 92 A-T patients, using an optimized single-strand conformation polymorphism (SSCP) technique that detected all previously known mutations in the polymerase chain reaction (PCR) segments being analyzed.	68	70	3	A-T	intuitive - abstract uses "A-T" in reference to "ataxia-telangiectasia", a query of A-T does not yield annotated code	C0004135	Ataxia Telangiectasia			
1348	10425038	4	To expedite screening, we sequentially loaded the SSCP gels with three different sets of PCR products that were pretested to avoid overlapping patterns.					No annotation					
1349	10425038	5	Many of the DNA changes we detected were intragenic polymorphisms.					No annotation					
1350	10425038	6	Of an expected 177 unknown mutations, we detected approximately 70%, mostly protein truncating mutations that would have been detectable by protein truncation testing if RNA starting material had been available.					No annotation					
1351	10425038	7	Mutations have now been defined for every exon of the ATM gene.					No annotation					
1352	10425038	8	Herein, we present 35 new mutations and 34 new intragenic polymorphisms or rare variants within the ATM gene.					No annotation					
1353	10425038	9	This is the most comprehensive compilation of ATM polymorphisms assembled to date.					No annotation					
1354	10426139	1	We report a novel mutation in the XK gene (XK) in a Japanese patient with McLeod syndrome.	75	89	15	McLeod syndrome	textual - yields annotated code	C0398568	Blood group deletion syndrome			
1355	10426139	2	A 50-year-old man showed progressive muscular atrophy, choreic movement, elevated level of serum creatinine kinase, and acanthocytosis.	38	53	16	muscular atrophy	textual	C0026846	Muscular Atrophy			
1355	10426139	2	A 50-year-old man showed progressive muscular atrophy, choreic movement, elevated level of serum creatinine kinase, and acanthocytosis.	56	71	16	choreic movement	textual	C0008489	Chorea			
1355	10426139	2	A 50-year-old man showed progressive muscular atrophy, choreic movement, elevated level of serum creatinine kinase, and acanthocytosis.	74	114	41	elevated level of serum creatinine kinase	intuitive - a query of "elevated creatinine kinase" yields annotated code	C1657311	elevated creatinine kinase			
1355	10426139	2	A 50-year-old man showed progressive muscular atrophy, choreic movement, elevated level of serum creatinine kinase, and acanthocytosis.	121	134	14	acanthocytosis	textual - yields annotated code and 1 other	C0687751	Acanthocytosis			
1356	10426139	3	The expression level of all the Kell antigens in erythrocyte was decreased and molecular analysis revealed a single-base (T) deletion at the nucleotide position 1095 in XK.					No annotation					
1357	10426139	4	This deletion caused a frameshift in translation, leading to a premature stop codon at the amino acid position 408.					No annotation					
1358	10426139	5	We conclude this single-base deletion causes defective Kx protein, which is responsible for the McLeod phenotype in this patient..	97	112	16	McLeod phenotype	intuitive - text is referring to the phenotype of "McLeod syndrome"	C0398568	Blood group deletion syndrome			
1359	10426999	2	Here, it is shown that BRCA1 interacts in vitro and in vivo with hRad50, which forms a complex with hMre11 and p95/nibrin.					No annotation					
1360	10426999	3	Upon irradiation, BRCA1 was detected in discrete foci in the nucleus, which colocalize with hRad50.					No annotation					
1361	10426999	4	Formation of irradiation-induced foci positive for BRCA1, hRad50, hMre11, or p95 was dramatically reduced in HCC/1937 breast cancer cells carrying a homozygous mutation in BRCA1 but was restored by transfection of wild-type BRCA1.	119	131	13	breast cancer	textual	C0678222, C0006142	Breast Carcinoma, Malignant neoplasm of breast			
1362	10426999	5	Ectopic expression of wild-type, but not mutated, BRCA1 in these cells rendered them less sensitive to the DNA damage agent, methyl methanesulfonate.	1	18	18	Ectopic expression	textual	C1512167	Ectopic Expression			
1363	10426999	6	These data suggest that BRCA1 is important for the cellular responses to DNA damage that are mediated by the hRad50-hMre11-p95 complex..					No annotation					
1364	10429004	1	OBJECTIVE: To examine the relationship of phenylalanine hydroxylase (PAH) genotypes to biochemical phenotype and cognitive development in maternal phenylketonuria PKU.	164	166	3	PKU	textual - yields both codes, however, also yields code for PAH gene	C0751434, C0031485	Classical phenylketonuria, Phenylketonurias			
1364	10429004	1	OBJECTIVE: To examine the relationship of phenylalanine hydroxylase (PAH) genotypes to biochemical phenotype and cognitive development in maternal phenylketonuria PKU.	148	162	15	phenylketonuria	textual - yields both codes, however, also yields code for PAH gene	C0751434, C0031485	Classical phenylketonuria, Phenylketonurias			
1365	10429004	10	The IQ of PAH-deficient mothers with a severe PKU mutation in combination with a MHP mutation or a mild PKU mutation was 99 and 96, respectively, whereas the IQ of PKU mothers with two severe PKU mutations or with one severe and one moderate PKU mutation was 83 and 84, respectively.	47	49	3	PKU	intuitive - abstract defines PKU as "phenylketonuria" a query of PKU yields both codes, however, also yields code for PAH gene	C0751434, C0031485	Classical phenylketonuria, Phenylketonurias			
1365	10429004	10	The IQ of PAH-deficient mothers with a severe PKU mutation in combination with a MHP mutation or a mild PKU mutation was 99 and 96, respectively, whereas the IQ of PKU mothers with two severe PKU mutations or with one severe and one moderate PKU mutation was 83 and 84, respectively.	82	84	3	MHP	intuitive - abstract defines MHP as "hyperphenylalaninaemia" a query of MHP does not yield annotated code 	C0751435	Hyperphenylalaninaemia			
1365	10429004	10	The IQ of PAH-deficient mothers with a severe PKU mutation in combination with a MHP mutation or a mild PKU mutation was 99 and 96, respectively, whereas the IQ of PKU mothers with two severe PKU mutations or with one severe and one moderate PKU mutation was 83 and 84, respectively.	105	107	3	PKU	intuitive - abstract defines PKU as "phenylketonuria" a query of PKU yields both codes, however, also yields code for PAH gene	C0751434, C0031485	Classical phenylketonuria, Phenylketonurias			
1365	10429004	10	The IQ of PAH-deficient mothers with a severe PKU mutation in combination with a MHP mutation or a mild PKU mutation was 99 and 96, respectively, whereas the IQ of PKU mothers with two severe PKU mutations or with one severe and one moderate PKU mutation was 83 and 84, respectively.	165	167	3	PKU	intuitive - abstract defines PKU as "phenylketonuria" a query of PKU yields both codes, however, also yields code for PAH gene	C0751434, C0031485	Classical phenylketonuria, Phenylketonurias			
1365	10429004	10	The IQ of PAH-deficient mothers with a severe PKU mutation in combination with a MHP mutation or a mild PKU mutation was 99 and 96, respectively, whereas the IQ of PKU mothers with two severe PKU mutations or with one severe and one moderate PKU mutation was 83 and 84, respectively.	193	195	3	PKU	intuitive - abstract defines PKU as "phenylketonuria" a query of PKU yields both codes, however, also yields code for PAH gene	C0751434, C0031485	Classical phenylketonuria, Phenylketonurias			
1365	10429004	10	The IQ of PAH-deficient mothers with a severe PKU mutation in combination with a MHP mutation or a mild PKU mutation was 99 and 96, respectively, whereas the IQ of PKU mothers with two severe PKU mutations or with one severe and one moderate PKU mutation was 83 and 84, respectively.	243	245	3	PKU	intuitive - abstract defines PKU as "phenylketonuria" a query of PKU yields both codes, however, also yields code for PAH gene	C0751434, C0031485	Classical phenylketonuria, Phenylketonurias			
1366	10429004	11	Of the patients with PKU, 92% had been treated during childhood.					No annotation					
1367	10429004	12	Those who were untreated or treated late had lower than average IQ scores for their group of mutation combinations.					No annotation					
1368	10429004	13	Females with moderate or mild PKU who were treated early and treated for >6 years showed IQ scores 10 points above average for their group.	31	33	3	PKU	intuitive - abstract defines PKU as "phenylketonuria" a query of PKU yields both codes, however, also yields code for PAH gene	C0751434, C0031485	Classical phenylketonuria, Phenylketonurias			
1369	10429004	14	CONCLUSIONS: The reproductive outcome in maternal phenylketonuria is dependent on prenatal metabolic control and postnatal environmental circumstances.	51	65	15	phenylketonuria	textual - yields both codes, however, also yields code for PAH gene	C0751434, C0031485	Classical phenylketonuria, Phenylketonurias			
1370	10429004	15	Both factors depend on the intellectual resources of the mother with PKU.	70	72	3	PKU	intuitive - abstract defines PKU as "phenylketonuria" a query of PKU yields both codes, however, also yields code for PAH gene	C0751434, C0031485	Classical phenylketonuria, Phenylketonurias			
1371	10429004	16	The significant relationship among genotype, biochemical phenotype, and cognitive performance observed in the present study is of importance for the development of an optimal strategy for future treatment of females with PKU who plan pregnancy..	222	224	3	PKU	intuitive - abstract defines PKU as "phenylketonuria" a query of PKU yields both codes, however, also yields code for PAH gene	C0751434, C0031485	Classical phenylketonuria, Phenylketonurias			
1372	10429004	2	METHODOLOGY: PAH gene mutations were examined in 222 hyperphenylalaninemic females enrolled in the Maternal PKU Collaborative Study MPKUCS.	109	111	3	PKU	intuitive - abstract defines PKU as "phenylketonuria" a query of PKU yields both codes, however, also yields code for PAH gene	C0751434, C0031485	Classical phenylketonuria, Phenylketonurias			
1372	10429004	2	METHODOLOGY: PAH gene mutations were examined in 222 hyperphenylalaninemic females enrolled in the Maternal PKU Collaborative Study MPKUCS.	54	74	21	hyperphenylalaninemic	textual	C0751435	Hyperphenylalaninaemia			
1373	10429004	3	A total of 84 different mutations were detected, and complete genotype was obtained in 199 individuals.					No annotation					
1374	10429004	4	Based on previous knowledge about mutation-phenotype associations, 78 of the mutations could be assigned to one of four classes of severity severe PKU, moderate PKU, mild PKU, and mild hyperphenylalaninemia MHP.	148	150	3	PKU	intuitive - abstract defines PKU as "phenylketonuria" a query of PKU yields both codes, however, also yields code for PAH gene	C0751434, C0031485	Classical phenylketonuria, Phenylketonurias			
1374	10429004	4	Based on previous knowledge about mutation-phenotype associations, 78 of the mutations could be assigned to one of four classes of severity severe PKU, moderate PKU, mild PKU, and mild hyperphenylalaninemia MHP.	162	164	3	PKU	intuitive - abstract defines PKU as "phenylketonuria" a query of PKU yields both codes, however, also yields code for PAH gene	C0751434, C0031485	Classical phenylketonuria, Phenylketonurias			
1374	10429004	4	Based on previous knowledge about mutation-phenotype associations, 78 of the mutations could be assigned to one of four classes of severity severe PKU, moderate PKU, mild PKU, and mild hyperphenylalaninemia MHP.	172	174	3	PKU	intuitive - abstract defines PKU as "phenylketonuria" a query of PKU yields both codes, however, also yields code for PAH gene	C0751434, C0031485	Classical phenylketonuria, Phenylketonurias			
1374	10429004	4	Based on previous knowledge about mutation-phenotype associations, 78 of the mutations could be assigned to one of four classes of severity severe PKU, moderate PKU, mild PKU, and mild hyperphenylalaninemia MHP.	208	210	3	MHP	textual - does not yield annotated code	C0751435	Hyperphenylalaninaemia			
1374	10429004	4	Based on previous knowledge about mutation-phenotype associations, 78 of the mutations could be assigned to one of four classes of severity severe PKU, moderate PKU, mild PKU, and mild hyperphenylalaninemia MHP.	186	206	21	hyperphenylalaninemia	textual	C0751435	Hyperphenylalaninaemia			
1375	10429004	5	Then, 189 MPKUCS subjects were grouped according to the various combinations of mutation classifications.					No annotation					
1376	10429004	6	The sample sizes were large enough for statistical testing in four groups with at least one mutation that completely abolishes enzyme activity.					No annotation					
1377	10429004	7	These patients are considered functionally hemizygous.					No annotation					
1378	10429004	8	RESULTS: The biochemical phenotype predicted from the genotype in functionally hemizygous patients was related significantly to the assigned phenylalanine level.					No annotation					
1379	10429004	9	Cognitive performance (IQ) was also significantly related to genotype.					No annotation					
1380	10430841	2	MRI demonstrated white matter abnormalities in the lateral and dorsal columns of the spinal cord.	18	43	26	white matter abnormalities	textual	C1866186	White matter abnormalities			
1381	10430841	3	Post-mortem examination of one of the patients showed extensive myelin loss in these columns.	65	75	11	myelin loss	Could not find suiatable UMLS code					
1382	10430841	4	An array of genotypes was found in these patients.					No annotation					
1383	10430841	5	We conclude that 'spinal xanthomatosis' is a clinical and radiological separate entity of CTX that should be included in the differential diagnosis of 'chronic myelopathy'..	91	93	3	CTX	intuitive - abstract defines CTX as "cerebrotendinous xanthomatosis" , a query of CTX yields annotated code and 2 others	C0238052	Xanthomatosis, Cerebrotendinous			
1383	10430841	5	We conclude that 'spinal xanthomatosis' is a clinical and radiological separate entity of CTX that should be included in the differential diagnosis of 'chronic myelopathy'..	19	38	20	spinal xanthomatosis	textual - could not find a UMLS code specific to this type of xanthomatosis	C0043325	Xanthomatosis			
1383	10430841	5	We conclude that 'spinal xanthomatosis' is a clinical and radiological separate entity of CTX that should be included in the differential diagnosis of 'chronic myelopathy'..	161	170	10	myelopathy		C0037928	Spinal Cord Diseases			
1384	10430930	1	Prader-Willi syndrome (PWS) and Angelman syndrome (AS) result from the loss of function of imprinted genes in human chromosome 15q11-q13.	24	26	3	PWS	textual	C0032897	Prader-Willi Syndrome			
1384	10430930	1	Prader-Willi syndrome (PWS) and Angelman syndrome (AS) result from the loss of function of imprinted genes in human chromosome 15q11-q13.	52	53	2	AS	textual - yields annotated code, however, also yields 11 others	C0162635	Angelman Syndrome			
1384	10430930	1	Prader-Willi syndrome (PWS) and Angelman syndrome (AS) result from the loss of function of imprinted genes in human chromosome 15q11-q13.	1	21	21	Prader-Willi syndrome	textual	C0032897	Prader-Willi Syndrome			
1384	10430930	1	Prader-Willi syndrome (PWS) and Angelman syndrome (AS) result from the loss of function of imprinted genes in human chromosome 15q11-q13.	33	49	17	Angelman syndrome	textual	C0162635	Angelman Syndrome			
1385	10430930	2	The central part of mouse chromosome 7 is homologous to human 15q11-q13, with conservation of both gene order and imprinted features.					No annotation					
1386	10430930	3	We report here the characterization of a transgene insertion (Epstein-Barr virus Latent Membrane Protein 2A, LMP2A) into mouse chromosome 7C, which has resulted in mouse models for PWS and AS dependent on the sex of the transmitting parent.	182	184	3	PWS	intuitive - abstract defined PWS as "Prader-Willi syndrome", a query of PWS yields annotated code	C0032897	Prader-Willi Syndrome			
1386	10430930	3	We report here the characterization of a transgene insertion (Epstein-Barr virus Latent Membrane Protein 2A, LMP2A) into mouse chromosome 7C, which has resulted in mouse models for PWS and AS dependent on the sex of the transmitting parent.	190	191	2	AS	intuitive - abstract defines AS "Angelman Syndrome", a query of AS yields annotated code, however, also yields 11 others	C0162635	Angelman Syndrome			
1386	10430930	3	We report here the characterization of a transgene insertion (Epstein-Barr virus Latent Membrane Protein 2A, LMP2A) into mouse chromosome 7C, which has resulted in mouse models for PWS and AS dependent on the sex of the transmitting parent.	63	80	18	Epstein-Barr virus	textual - yields annotated code	C0014644	Herpesvirus 4, Human			
1388	10430930	5	Because the intact chromosome 7, opposite the deleted homolog, maintains the correct imprint in somatic cells of PWS and AS mice and establishes the correct imprint in male and female germ cells of AS mice, homologous association and replication asynchrony are not part of the imprinting mechanism.	114	116	3	PWS	intuitive - abstract defined PWS as "Prader-Willi syndrome", a query of PWS yields annotated code	C0032897	Prader-Willi Syndrome			
1388	10430930	5	Because the intact chromosome 7, opposite the deleted homolog, maintains the correct imprint in somatic cells of PWS and AS mice and establishes the correct imprint in male and female germ cells of AS mice, homologous association and replication asynchrony are not part of the imprinting mechanism.	122	123	2	AS	intuitive - abstract defines AS "Angelman Syndrome", a query of AS yields annotated code, however, also yields 11 others	C0162635	Angelman Syndrome			
1388	10430930	5	Because the intact chromosome 7, opposite the deleted homolog, maintains the correct imprint in somatic cells of PWS and AS mice and establishes the correct imprint in male and female germ cells of AS mice, homologous association and replication asynchrony are not part of the imprinting mechanism.	199	200	2	AS	intuitive - abstract defines AS "Angelman Syndrome", a query of AS yields annotated code, however, also yields 11 others	C0162635	Angelman Syndrome			
1389	10430930	6	This heritable-deletion mouse model will be particularly useful for the identification of the etiological genes and mechanisms, phenotypic basis, and investigation of therapeutic approaches for PWS..	195	197	3	PWS	intuitive - abstract defined PWS as "Prader-Willi syndrome", a query of PWS yields annotated code	C0032897	Prader-Willi Syndrome			
1390	10434119	1	van der Woude syndrome (vWS, MIM 119300) is a rare autosomal dominant clefting condition with cardinal features of mucous cysts (lower-lip pits) and clefts to the lip and/or palate.	25	27	3	vWS	textual - yields annotated code	C0175697	Van der Woude syndrome			
1390	10434119	1	van der Woude syndrome (vWS, MIM 119300) is a rare autosomal dominant clefting condition with cardinal features of mucous cysts (lower-lip pits) and clefts to the lip and/or palate.	1	22	22	van der Woude syndrome	textual - yields annotated code and 1 other	C0175697	Van der Woude syndrome			
1390	10434119	1	van der Woude syndrome (vWS, MIM 119300) is a rare autosomal dominant clefting condition with cardinal features of mucous cysts (lower-lip pits) and clefts to the lip and/or palate.	71	88	18	clefting condition	Could not find UMLS code for a general clefting condition					
1390	10434119	1	van der Woude syndrome (vWS, MIM 119300) is a rare autosomal dominant clefting condition with cardinal features of mucous cysts (lower-lip pits) and clefts to the lip and/or palate.	116	127	12	mucous cysts	textual	C0026683	Mucocele			
1390	10434119	1	van der Woude syndrome (vWS, MIM 119300) is a rare autosomal dominant clefting condition with cardinal features of mucous cysts (lower-lip pits) and clefts to the lip and/or palate.	130	143	14	lower-lip pits	textual	C1861544	Lower lip pits			
1390	10434119	1	van der Woude syndrome (vWS, MIM 119300) is a rare autosomal dominant clefting condition with cardinal features of mucous cysts (lower-lip pits) and clefts to the lip and/or palate.	150	180	31	clefts to the lip and/or palate	intuitive - a query of "clefts to the lip and palate" will yield annotated code	C0158646	Cleft palate with cleft lip			
1390	10434119	1	van der Woude syndrome (vWS, MIM 119300) is a rare autosomal dominant clefting condition with cardinal features of mucous cysts (lower-lip pits) and clefts to the lip and/or palate.	150	180	31	clefts to the lip and/or palate	intuitive - list is present, a query of "clefts to the palate" will yield annotated code	C0008925	Cleft Palate			
1390	10434119	1	van der Woude syndrome (vWS, MIM 119300) is a rare autosomal dominant clefting condition with cardinal features of mucous cysts (lower-lip pits) and clefts to the lip and/or palate.	150	166	17	clefts to the lip	textual	C0008924	Cleft Lip			
1392	10434119	3	We have investigated 5 novel vWS families through probands attended for cleft lip and/or palate repair at the Department of Maxillofacial Surgery of Hopital Trousseau, Paris, in order to tentatively refine the genetic map of the vWS region in 1q32-q41 and possibly identify unlinked pedigrees.	30	32	3	vWS	intuitive - abstract defines vWS  as "van der Woude syndrome", a query of vWS yields annotated code	C0175697	Van der Woude syndrome			
1392	10434119	3	We have investigated 5 novel vWS families through probands attended for cleft lip and/or palate repair at the Department of Maxillofacial Surgery of Hopital Trousseau, Paris, in order to tentatively refine the genetic map of the vWS region in 1q32-q41 and possibly identify unlinked pedigrees.	73	95	23	cleft lip and/or palate	intuitive - list is present, a query of "cleft palate" will yield annotated code	C0008925	Cleft Palate			
1392	10434119	3	We have investigated 5 novel vWS families through probands attended for cleft lip and/or palate repair at the Department of Maxillofacial Surgery of Hopital Trousseau, Paris, in order to tentatively refine the genetic map of the vWS region in 1q32-q41 and possibly identify unlinked pedigrees.	73	81	9	cleft lip	textual	C0008924	Cleft Lip			
1392	10434119	3	We have investigated 5 novel vWS families through probands attended for cleft lip and/or palate repair at the Department of Maxillofacial Surgery of Hopital Trousseau, Paris, in order to tentatively refine the genetic map of the vWS region in 1q32-q41 and possibly identify unlinked pedigrees.	73	95	23	cleft lip and/or palate	intuitive - a query of "cleft lip and palate" will yield annotated code	C0158646	Cleft palate with cleft lip			
1393	10434119	4	Linkage analysis was carried out to 6 microsatellite markers (D1S249, D1S425, D1S491, D1S205, D1S414, D1S425), yielding a maximum cumulative LOD score of Z = 3.27 at theta = 0.00 for D1S245.					No annotation					
1394	10434119	5	The innermost four markers were found to be tightly linked to one another, with no evidence for recombination.					No annotation					
1396	10441329	1	The Atp7b protein is a copper-transporting ATPase expressed predominantly in the liver and to a lesser extent in most other tissues.					No annotation					
1397	10441329	4	The ATP7B null mice display a gradual accumulation of hepatic copper that increases to a level 60-fold greater than normal by 5 months of age.					No annotation					
1398	10441329	5	An increase in copper concentration was also observed in the kidney, brain, placenta and lactating mammary glands of homo-zygous mutants, although milk from the mutant glands was copper deficient.	180	195	16	copper deficient	intuitive - implies a "copper deficiency"	C0268070	Hypocupremia			
1399	10441329	6	Morphological abnormalities resembling cirrhosis developed in the majority of the livers from homozygous mutants older than 7 months of age.	1	27	27	Morphological abnormalities	Could not find suitable UMLS code					
1399	10441329	6	Morphological abnormalities resembling cirrhosis developed in the majority of the livers from homozygous mutants older than 7 months of age.	40	48	9	cirrhosis	textual - yields both UMLS codes	C1623038, C0023890	Cirrhosis, Liver Cirrhosis			
1400	10441329	7	Progeny of the homozygous mutant females demonstrated neurological abnormalities and growth retardation characteristic of copper deficiency.	55	80	26	neurological abnormalities	Could not find suitable UMLS code					
1400	10441329	7	Progeny of the homozygous mutant females demonstrated neurological abnormalities and growth retardation characteristic of copper deficiency.	86	103	18	growth retardation	textual	C0151686	Growth retardation			
1400	10441329	7	Progeny of the homozygous mutant females demonstrated neurological abnormalities and growth retardation characteristic of copper deficiency.	123	139	17	copper deficiency	textual	C0268070	Hypocupremia			
1401	10441329	8	Copper concentration in the livers of the newborn homozygous null mutants was decreased dramatically.					No annotation					
1402	10441343	1	Segregation distortion has been reported to occur in a number of the trinucleotide repeat disorders.					No annotation					
1403	10441343	10	However, analysis of the variance in repeat number in sperm from the French MJD patients overlapped significantly with the variance in repeat number observed in the C/C homozygous Japanese patients..	77	79	3	MJD	intuitive - abstract defines MJD as "Machado-Joseph disease", a query of MJD yields annotated code	C0024408	Machado-Joseph Disease			
1404	10441343	2	On the basis of a sperm typing study performed in patients of Japanese descent with Machado-Joseph disease (MJD), it was reported that disease alleles are preferentially transmitted during meiosis.	109	111	3	MJD	textual	C0024408	Machado-Joseph Disease			
1404	10441343	2	On the basis of a sperm typing study performed in patients of Japanese descent with Machado-Joseph disease (MJD), it was reported that disease alleles are preferentially transmitted during meiosis.	85	106	22	Machado-Joseph disease	textual	C0024408	Machado-Joseph Disease			
1405	10441343	3	We performed a sperm typing study of five MJD patients of French descent and analysis of the pooled data shows a ratio of mutant to normal alleles of 379:436 (46.5:53.5%), which does not support meiotic segregation distortion.	43	45	3	MJD	intuitive - abstract defines MJD as "Machado-Joseph disease", a query of MJD yields annotated code	C0024408	Machado-Joseph Disease			
1406	10441343	4	To confirm these results, sperm typing analysis was also performed using a polymorphic marker, D14S1050, closely linked to the MJD1 gene.					No annotation					
1407	10441343	5	Among 910 sperm analyzed, the allele linked to the disease chromosome was detected in 50.3% of the samples and the allele linked to the normal chromosome was found in 49.6% of the sperm.					No annotation					
1408	10441343	6	The difference in frequency of these two alleles is not significant P = 0.8423.					No annotation					
1409	10441343	7	Likelihood-based analysis of segregation distortion in the single sperm data using the SPERMSEG program also showed no support for segregation distortion at the gamete level in this patient population.					No annotation					
1410	10441343	8	The previous report on the Japanese patients also suggested that disease allele stability may be influenced by a trans effect of an intragenic polymorphism (987 G/C) in the wild-type allele.					No annotation					
1411	10441343	9	All of the French patients were heterozygous for this polymorphism.					No annotation					
1412	10441571	2	The gene encodes a transcriptional regulator that recognizes target genes through its paired-type DNA-binding domain.					No annotation					
1413	10441571	3	The paired domain is composed of two distinct DNA-binding subdomains, the N-terminal subdomain (NTS) and the C-terminal subdomain (CTS), which bind respective consensus DNA sequences.					No annotation					
1414	10441571	4	The human PAX6 gene produces two alternative splice isoforms that have the distinct structure of the paired domain.					No annotation					
1415	10441571	5	The insertion, into the NTS, of 14 additional amino acids encoded by exon 5a abolishes the DNA-binding activity of the NTS and unmasks the DNA-binding ability of the CTS.					No annotation					
1416	10441571	6	Thus, exon 5a appears to function as a molecular switch that specifies target genes.					No annotation					
1417	10441571	7	We ascertained a novel missense mutation in four pedigrees with Peters anomaly, congenital cataract, Axenfeldt anomaly, and/or foveal hypoplasia, which, to our knowledge, is the first mutation identified in the splice-variant region.	65	78	14	Peters anomaly	textual - yields annotated code	C0344559	Irido-corneo-trabecular dysgenesis			
1417	10441571	7	We ascertained a novel missense mutation in four pedigrees with Peters anomaly, congenital cataract, Axenfeldt anomaly, and/or foveal hypoplasia, which, to our knowledge, is the first mutation identified in the splice-variant region.	81	99	19	congenital cataract	textual - yields annotated code and 1 other	C0009691	Congenital cataract			
1417	10441571	7	We ascertained a novel missense mutation in four pedigrees with Peters anomaly, congenital cataract, Axenfeldt anomaly, and/or foveal hypoplasia, which, to our knowledge, is the first mutation identified in the splice-variant region.	102	118	17	Axenfeldt anomaly	Could not find suitable UMLS code					
1417	10441571	7	We ascertained a novel missense mutation in four pedigrees with Peters anomaly, congenital cataract, Axenfeldt anomaly, and/or foveal hypoplasia, which, to our knowledge, is the first mutation identified in the splice-variant region.	128	144	17	foveal hypoplasia	textual	C1969726	FOVEAL HYPOPLASIA			
1418	10441571	8	A T-->A transition at the 20th nucleotide position of exon 5a results in a Val-->Asp (GTC-->GAC) substitution at the 7th codon of the alternative splice region.					No annotation					
1419	10441571	9	Functional analyses demonstrated that the V54D mutation slightly increased NTS binding and decreased CTS transactivation activity to almost half..					No annotation					
1420	10441573	1	For genetic counseling and predictive testing in families with inherited breast-ovarian cancer, penetrances and expressions of the underlying mutations should be known.	64	94	31	inherited breast-ovarian cancer	textual - replace "inherited" with "hereditary" to yield correct UMLS code	C0677776	hereditary breast/ovarian cancer (BRCA1, BRCA2)			
1421	10441573	10	Both penetrance and expression breast cancer vs.	32	44	13	breast cancer	textual	C0678222, C0006142	Breast Carcinoma, Malignant neoplasm of breast			
1422	10441573	11	ovarian cancer were different from those in reports of the Ashkenazi founder mutations.	1	14	14	ovarian cancer	textual	C1140680, C0029925	Malignant neoplasm of ovary, Ovarian Carcinoma			
1423	10441573	12	Whether the reported differences reflect true differences and/or methodological problems is discussed.					No annotation					
1424	10441573	13	An observed excess of mutation carriers could not be accounted for by methodological problems; possible explanations were a true" low penetrance or preferential segregation.. "					No annotation					
1425	10441573	2	We have previously reported two BRCA1 founder mutations in the Norwegian population.					No annotation					
1426	10441573	3	Index cases for the present study were found two different ways: through a series of consecutive ovarian cancers (n=16) and through our family cancer clinic n=14.	98	112	15	ovarian cancers	textual	C1140680, C0029925	Malignant neoplasm of ovary, Ovarian Carcinoma			
1427	10441573	4	Altogether, 20 of the patients had BRCA1 1675delA, and 10 had 1135insA.					No annotation					
1428	10441573	5	Their relatives were described with respect to absence/presence of breast and/or ovarian cancer.	68	95	28	breast and/or ovarian cancer	intuitive - list is present a query of "breast cancer" will yielda annotated codes	C0678222, C0006142	Breast Carcinoma, Malignant neoplasm of breast			
1428	10441573	5	Their relatives were described with respect to absence/presence of breast and/or ovarian cancer.	82	95	14	ovarian cancer	textual	C1140680, C0029925	Malignant neoplasm of ovary, Ovarian Carcinoma			
1429	10441573	6	Of 133 living female relatives, 83 (62%) were tested for the presence of a mutation.					No annotation					
1430	10441573	7	No difference, in penetrance and expression, between the two mutations were found, whereas differences according to method of ascertainment were seen.					No annotation					
1431	10441573	8	The overall findings were that disease started to occur at age 30 years and that by age 50 years 48% of the mutation-carrying women had experienced breast and/or ovarian cancer.	149	176	28	breast and/or ovarian cancer	intuitive - list is present a query of "breast cancer" will yielda annotated codes	C0678222, C0006142	Breast Carcinoma, Malignant neoplasm of breast			
1431	10441573	8	The overall findings were that disease started to occur at age 30 years and that by age 50 years 48% of the mutation-carrying women had experienced breast and/or ovarian cancer.	163	176	14	ovarian cancer	textual	C1140680, C0029925	Malignant neoplasm of ovary, Ovarian Carcinoma			
1432	10441573	9	More ovarian cancers than breast cancers were recorded.	6	20	15	ovarian cancers	textual	C0678222, C0006142	Breast Carcinoma, Malignant neoplasm of breast			
1432	10441573	9	More ovarian cancers than breast cancers were recorded.	27	40	14	breast cancers	textual	C1140680, C0029925	Malignant neoplasm of ovary, Ovarian Carcinoma			
1433	10446987	1	Dermatofibrosarcoma protuberans (DFSP) displays chromosomal rearrangements involving chromosome 17 and 22, which fuse the collagen type Ialpha1 (COLIA1) gene to the platelet-derived growth factor (PDGF) B-chain (PDGFB) gene.	34	37	4	DFSP	textual	C0392784	Dermatofibrosarcoma Protuberans			
1433	10446987	1	Dermatofibrosarcoma protuberans (DFSP) displays chromosomal rearrangements involving chromosome 17 and 22, which fuse the collagen type Ialpha1 (COLIA1) gene to the platelet-derived growth factor (PDGF) B-chain (PDGFB) gene.	1	31	31	Dermatofibrosarcoma protuberans	textual	C0392784	Dermatofibrosarcoma Protuberans			
1434	10446987	2	To characterize the functional and structural properties of the COLIA1/PDGFB fusion protein, we generated a stable NIH3T3 cell line that contained a tumor-derived chimeric gene resulting from a COIA1 intron 7-PDGFB intron 1 fusion.					*					
1435	10446987	3	Expression of the fusion protein led to morphological transformation and increased growth rate of these cells.					No annotation					
1436	10446987	4	The PDGF receptor kinase inhibitor CGP57148B reversed the transformed phenotype and reduced the growth rate of COLIA1/PDGFB-expressing cells but had no effects on control cells.					No annotation					
1437	10446987	5	The presence of dimeric COLIA1/PDGFB precursors was demonstrated through PDGFB immunoprecipitations of metabolically labeled cells and also by PDGFB immunoprecipitations followed by immunoblotting with COLIA1 antibodies.					No annotation					
1438	10446987	6	Pulse-chase studies demonstrated that the COLIA1/PDGFB precursor was processed to an end product that was indistinguishable from wild-type PDGF-BB.					No annotation					
1439	10446987	7	Finally, COLIA1/PDGFB-expressing cells generated tumors after s.c. injection into nude mice, and tumor growth was reduced by treatment with CGP57148B.	50	55	6	tumors	textual - yields annotated code, however, also yields 1 other	C0027651	Neoplasms			
1439	10446987	7	Finally, COLIA1/PDGFB-expressing cells generated tumors after s.c. injection into nude mice, and tumor growth was reduced by treatment with CGP57148B.	98	102	5	tumor	textual - yields annotated code, however, also yields 1 other	C0027651	Neoplasms			
1440	10446987	8	We conclude that the COLIA1/PDGFB fusion associated with DFSP contributes to tumor development through ectopic production of PDGF-BB and the formation of an autocrine loop.	78	82	5	tumor	textual - yields annotated code, however, also yields 1 other	C0027651	Neoplasms			
1441	10446987	9	Our findings, thus, suggest that PDGF receptors could be a target for pharmacological treatment of DFSP and giant cell fibroblastoma, e.g., through the use of PDGF receptor kinase inhibitors such as CGP57148B..	109	132	24	giant cell fibroblastoma	textual	C0406579	Giant cell fibroblastoma of skin			
1442	10447258	1	The Zellweger spectrum of disease, encompassing Zellweger syndrome and the progressively milder phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease, is due to a failure to form functional peroxisomes.	5	13	9	Zellweger	textual	C0043459	Zellweger Syndrome			
1442	10447258	1	The Zellweger spectrum of disease, encompassing Zellweger syndrome and the progressively milder phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease, is due to a failure to form functional peroxisomes.	49	66	18	Zellweger syndrome	textual	C0043459	Zellweger Syndrome			
1442	10447258	1	The Zellweger spectrum of disease, encompassing Zellweger syndrome and the progressively milder phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease, is due to a failure to form functional peroxisomes.	111	139	29	neonatal adrenoleukodystrophy	textual	C0282525	Adrenoleukodystrophy, Neonatal			
1442	10447258	1	The Zellweger spectrum of disease, encompassing Zellweger syndrome and the progressively milder phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease, is due to a failure to form functional peroxisomes.	145	168	24	infantile Refsum disease	textual	C0282527	Refsum Disease, Infantile 			
1443	10447258	2	Cell fusion complementation studies demonstrated that these diseases are genetically heterogeneous, with two-thirds of all patients lying within a single complementation group, CG1.					No annotation					
1444	10447258	3	Molecular genetic and cell biology studies have shown that PEX1 is deficient in many CG1 patients.					No annotation					
1445	10447258	4	However, previous studies have focused on mildly affected patients and there is still no report of two mutant PEX1 alleles in any Zellweger syndrome patient.	131	148	18	Zellweger syndrome	textual	C0043459	Zellweger Syndrome			
1446	10447258	5	Furthermore, mutations in the PMP70 gene have also been identified in two Zellweger syndrome patients from CG1, raising the possibility that CG1 patients may represent a mixture of PEX1-deficient and PMP70-deficient individuals.	75	92	18	Zellweger syndrome	textual	C0043459	Zellweger Syndrome			
1446	10447258	5	Furthermore, mutations in the PMP70 gene have also been identified in two Zellweger syndrome patients from CG1, raising the possibility that CG1 patients may represent a mixture of PEX1-deficient and PMP70-deficient individuals.	182	195	14	PEX1-deficient	intuitive - PEX1 is a protein	C0033626	Protein Deficiency			
1446	10447258	5	Furthermore, mutations in the PMP70 gene have also been identified in two Zellweger syndrome patients from CG1, raising the possibility that CG1 patients may represent a mixture of PEX1-deficient and PMP70-deficient individuals.	201	215	15	PMP70-deficient	intuitive - PMP70 is a protein	C0033626	Protein Deficiency			
1447	10447258	6	To address the molecular basis of disease in Zellweger syndrome patients from CG1, we examined all 24 PEX1 exons in four patients, including both patients that have mutations in PMP70.	46	63	18	Zellweger syndrome	textual	C0043459	Zellweger Syndrome			
1448	10447258	7	PEX1 mutations were detected in all four patients, including a 1-bp insertion (c.2097insT) in exon 13 that was present in three of the four patients.					No annotation					
1449	10447258	8	Subsequent studies demonstrated that this mutation is present in one-half of all CG1 patients and correlates with the Zellweger syndrome phenotype.	119	136	18	Zellweger syndrome	textual	C0043459	Zellweger Syndrome			
1450	10447258	9	As this mutation leads to a loss of protein function its frequency makes it the most common cause of Zellweger syndrome, helping to explain the high percentage of patients that belong to CG1..	102	119	18	Zellweger syndrome	textual	C0043459	Zellweger Syndrome			
1451	10447259	10	When one such case was studied by Western blotting, reduced amounts of normal-size WASP were present.					No annotation					
1452	10447259	11	In other cases as well, a correlation was found between the amount of normal or mutant WASP present and the phenotypes of the affected individuals.					No annotation					
1453	10447259	12	No protein was detected in two individuals with severe WAS.	56	58	3	WAS	intuitive - WAS was defined as "Wiskott-Aldrich syndrome" in the abstract, a query of WAS yields the annotated code, however, it also yields 20 others	C0043194	Wiskott-Aldrich Syndrome			
1454	10447259	13	Reduced levels of a normal-size WASP with a missense mutation were seen in two individuals with XLT.	97	99	3	XLT	intuitive - while the abstract never defined XLT, it appears that it might be a common term for thrombocytopenia, as the abstract did mention thrombocytopenia prior to using XLT.  A query of XLT yields annotated  UMLS code	C1839163	THROMBOCYTOPENIA 1			
1455	10447259	14	It is concluded that mutation analysis at the DNA level is not sufficient for predicting clinical course.					No annotation					
1456	10447259	15	Studies at the transcript and protein level are needed for a better assessment..					No annotation					
1457	10447259	2	WASP contains several functional domains through which it interacts with proteins involved in intracellular signaling and regulation of the actin cytoskeleton.					No annotation					
1458	10447259	3	In this report, 17 WASP gene mutations were identified, 12 of which are novel.					No annotation					
1459	10447259	4	DNA of affected males and obligate carriers was PCR amplified and analyzed by SSCA, heteroduplex analysis, and direct sequencing.					No annotation					
1460	10447259	5	The effects of the mutations at the mRNA and protein level were ascertained by RT-PCR and Western blot analyses.					No annotation					
1461	10447259	6	All missense mutations were located in exons 1-4.					No annotation					
1462	10447259	7	Most of the nonsense, frameshift and splice site mutations were found in exons 6-11.					No annotation					
1463	10447259	8	Mutations that alter splice sites led to the synthesis of several types of mRNAs, a fraction of which represented the normally spliced product.					No annotation					
1464	10447259	9	The presence of normally spliced transcripts was correlated with a milder phenotype.					No annotation					
1465	10449429	1	Duchenne muscular dystrophy (DMD) is caused by mutations in the dystrophin gene, leading to the absence of the dystrophin protein in striated muscle.	30	32	3	DMD	textual - yields annotated code, however, also yields 3 others	C0013264	Muscular Dystrophy, Duchenne			
1465	10449429	1	Duchenne muscular dystrophy (DMD) is caused by mutations in the dystrophin gene, leading to the absence of the dystrophin protein in striated muscle.	1	27	27	Duchenne muscular dystrophy	textual	C0013264	Muscular Dystrophy, Duchenne			
1466	10449429	2	A significant number of these mutations are premature stop codons.					No annotation					
1467	10449429	3	On the basis of the observation that aminoglycoside treatment can suppress stop codons in cultured cells, we tested the effect of gentamicin on cultured muscle cells from the mdx mouse - an animal model for DMD that possesses a premature stop codon in the dystrophin gene.	208	210	3	DMD	intuitive - DMD was defined as "Duchenne muscular dystrophy" in the abstract, a query of DMD yields annotated code, however, also yields 3 others	C0013264	Muscular Dystrophy, Duchenne			
1468	10449429	4	Exposure of mdx myotubes to gentamicin led to the expression and localization of dystrophin to the cell membrane.					No annotation					
1469	10449429	5	We then evaluated the effects of differing dosages of gentamicin on expression and functional protection of the muscles of mdx mice.					No annotation					
1470	10449429	6	We identified a treatment regimen that resulted in the presence of dystrophin in the cell membrane in all striated muscles examined and that provided functional protection against muscular injury.					No annotation					
1471	10449429	7	To our knowledge, our results are the first to demonstrate that aminoglycosides can suppress stop codons not only in vitro but also in vivo.					No annotation					
1472	10449429	8	Furthermore, these results raise the possibility of a novel treatment regimen for muscular dystrophy and other diseases caused by premature stop codon mutations.	83	100	18	muscular dystrophy	textual	C0026850	Muscular Dystrophies			
1473	10449429	9	This treatment could prove effective in up to 15% of patients with DMD..	68	70	3	DMD	intuitive - DMD was defined as "Duchenne muscular dystrophy" in the abstract, a query of DMD yields annotated code, however, also yields 3 others	C0013264	Muscular Dystrophy, Duchenne			
1474	10449794	1	Ataxia-telangiectasia (A-T) is characterized by a markedly increased sensitivity to ionizing radiation, increased incidence of cancer, and neurodegeneration, especially of the cerebellar Purkinje cells.	24	26	3	A-T	textual - does not yield annotated code	C0004135	Ataxia Telangiectasia			
1474	10449794	1	Ataxia-telangiectasia (A-T) is characterized by a markedly increased sensitivity to ionizing radiation, increased incidence of cancer, and neurodegeneration, especially of the cerebellar Purkinje cells.	1	21	21	Ataxia-telangiectasia	textual	C0004135	Ataxia Telangiectasia			
1474	10449794	1	Ataxia-telangiectasia (A-T) is characterized by a markedly increased sensitivity to ionizing radiation, increased incidence of cancer, and neurodegeneration, especially of the cerebellar Purkinje cells.	128	133	6	cancer	textual - yields annotated codes, however, also yields 2 others	C0006826,C1306459 	Malignant Neoplasms, Primary malignant neoplasm			
1474	10449794	1	Ataxia-telangiectasia (A-T) is characterized by a markedly increased sensitivity to ionizing radiation, increased incidence of cancer, and neurodegeneration, especially of the cerebellar Purkinje cells.	140	156	17	neurodegeneration	textual	C0027746	Nerve Degeneration			
1475	10449794	2	Ionizing radiation oxidizes macromolecules and causes tissue damage through the generation of reactive oxygen species ROS.	55	67	13	tissue damage	textual	C0010957 ]	Tissue damage			
1476	10449794	3	We therefore hypothesized that A-T is due to oxidative damage resulting from loss of function of the A-T gene product.	32	34	3	A-T	intuitive - abstract defined A-T as "Ataxia-telangiectasia", a query of A-T does not yield annotated code	C0004135	Ataxia Telangiectasia			
1477	10449794	4	To assess this hypothesis, we employed an animal model of A-T, the mouse with a disrupted Atm gene.	59	61	3	A-T	intuitive - abstract defined A-T as "Ataxia-telangiectasia", a query of A-T does not yield annotated code	C0004135	Ataxia Telangiectasia			
1478	10449794	5	We show that organs which develop pathologic changes in the Atm-deficient mice are targets of oxidative damage, and that cerebellar Purkinje cells are particularly affected.	61	73	13	Atm-deficient	intuitive - a deficiency of a specific protein is listed	C0033626	Protein Deficiency			
1479	10449794	6	These observations provide a mechanistic basis for the A-T phenotype and lay a rational foundation for therapeutic intervention..	56	58	3	A-T	intuitive - abstract defined A-T as "Ataxia-telangiectasia", a query of A-T does not yield annotated code	C0004135	Ataxia Telangiectasia			
1480	10465113	1	We have observed over 25 different mutations in the diastrophic dysplasia sulphate transporter gene (DTDST) in association with the recessive disorders achondrogenesis 1B, atelosteogenesis 2, and diastrophic dysplasia.	53	73	21	diastrophic dysplasia	textual	C0220726	Diastrophic dysplasia			
1480	10465113	1	We have observed over 25 different mutations in the diastrophic dysplasia sulphate transporter gene (DTDST) in association with the recessive disorders achondrogenesis 1B, atelosteogenesis 2, and diastrophic dysplasia.	153	167	15	achondrogenesis	textual	C0001079	Achondrogenesis			
1480	10465113	1	We have observed over 25 different mutations in the diastrophic dysplasia sulphate transporter gene (DTDST) in association with the recessive disorders achondrogenesis 1B, atelosteogenesis 2, and diastrophic dysplasia.	173	190	18	atelosteogenesis 2	textual - does not yield annotated code however unless you add "type" in	C0432203	Atelosteogenesis type 2			
1480	10465113	1	We have observed over 25 different mutations in the diastrophic dysplasia sulphate transporter gene (DTDST) in association with the recessive disorders achondrogenesis 1B, atelosteogenesis 2, and diastrophic dysplasia.	197	217	21	diastrophic dysplasia	textual	C0220726	Diastrophic dysplasia			
1481	10465113	10	A few other patients and families with features similar to our proband have been described previously and considered to have autosomal recessive MED EDM4, McKusick 226900.					No annotation					
1482	10465113	11	This observation confirms the existence of this entity and assigns it to the phenotypic spectrum associated with mutations at the DTDST locus..					No annotation					
1483	10465113	2	The c862t (R279W) transition is the most common mutation in non-Finnish patients, but in these disorders it is usually combined with other DTDST mutations.					No annotation					
1484	10465113	3	We had not seen a case of homozygosity for c862t (R279W) until we analysed DNA from a 36 year old male with tall-normal stature (180 cm) who asked for genetic counselling for suspected multiple epiphyseal dysplasia.	195	214	20	epiphyseal dysplasia	textual	C0392476	Epiphyseal dysplasia			
1485	10465113	4	He was treated for club foot and hip dysplasia at birth.	20	28	9	club foot	textual - yields annotated code and 1 other	C0009081	Congenital clubfoot			
1485	10465113	4	He was treated for club foot and hip dysplasia at birth.	34	46	13	hip dysplasia	textual	C1328407	Hip dysplasia			
1486	10465113	5	Skeletal changes consistent with multiple epiphyseal dysplasia, with the peculiar finding of a double layered patella, were recognised during childhood.	34	62	29	multiple epiphyseal dysplasia	textual	C0026760	Multiple Epiphyseal Dysplasia			
1486	10465113	5	Skeletal changes consistent with multiple epiphyseal dysplasia, with the peculiar finding of a double layered patella, were recognised during childhood.	96	117	22	double layered patella	textual	C1856923	Double layered patella			
1487	10465113	6	Cleft palate, swelling of the ear pinna, and hitch hiker thumb were absent.	1	12	12	Cleft palate	textual	C0008925	Cleft Palate			
1487	10465113	6	Cleft palate, swelling of the ear pinna, and hitch hiker thumb were absent.	46	62	17	hitch hiker thumb	textual	C0431887	Hitch-hiker thumb			
1488	10465113	7	He was found to be homozygous, and both healthy parents heterozygous, for the R279W mutation in DTDST, and his fibroblasts showed a sulphate incorporation defect typical of DTDST disorders.					No annotation					
1489	10465113	8	Counselling was given for a recessive disorder, thereby considerably reducing the probability of affected offspring.					No annotation					
1490	10465113	9	Multiple epiphyseal dysplasia is more frequently caused by dominant mutations in the COMP (EDM1, McKusick 132400) and COL9A2 genes EDM2, McKusick 600204.	1	29	29	Multiple epiphyseal dysplasia	textual	C0026760	Multiple Epiphyseal Dysplasia			
1491	10466420	1	Atypical or variant forms of well-known chondrodysplasias may pose diagnostic problems.	41	57	17	chondrodysplasias	textual	C0343284	Chondrodysplasia, unspecified			
1492	10466420	2	We report on a girl with clinical features suggesting diastrophic dysplasia but with unusual radiographic features including severe platyspondyly, wide metaphyses, and fibular overgrowth, which are partially reminiscent of metatropic dysplasia.	55	75	21	diastrophic dysplasia	textual	C0220726	Diastrophic dysplasia			
1492	10466420	2	We report on a girl with clinical features suggesting diastrophic dysplasia but with unusual radiographic features including severe platyspondyly, wide metaphyses, and fibular overgrowth, which are partially reminiscent of metatropic dysplasia.	133	145	13	platyspondyly	textual	C1865023	Platyspondyly			
1492	10466420	2	We report on a girl with clinical features suggesting diastrophic dysplasia but with unusual radiographic features including severe platyspondyly, wide metaphyses, and fibular overgrowth, which are partially reminiscent of metatropic dysplasia.	148	162	15	wide metaphyses	textual	C1849039	Wide metaphyses			
1492	10466420	2	We report on a girl with clinical features suggesting diastrophic dysplasia but with unusual radiographic features including severe platyspondyly, wide metaphyses, and fibular overgrowth, which are partially reminiscent of metatropic dysplasia.	169	186	18	fibular overgrowth	textual	C1864298 ]	Fibular overgrowth			
1492	10466420	2	We report on a girl with clinical features suggesting diastrophic dysplasia but with unusual radiographic features including severe platyspondyly, wide metaphyses, and fibular overgrowth, which are partially reminiscent of metatropic dysplasia.	224	243	20	metatropic dysplasia	textual	C0265281 ]	Metatrophic dysplasia			
1493	10466420	3	The diagnosis was clarified by molecular analysis of the DTDST gene, which revealed homozygosity for a previously undescribed mutation leading to a Q454P substitution in the 10th transmembrane domain of the DTDST sulfate transporter.					No annotation					
1494	10466420	4	Molecular analysis may be of particular value in such atypical cases..					No annotation					
1495	10470088	1	APC is often cited as a prime example of a tumor suppressor gene.	44	48	5	tumor	textual - yields annotated code, however, also yields 1 other	C0027651	Neoplasms			
1496	10470088	10	Our findings also indicate a new mechanism for disease severity: if a broader spectrum of mutations is selected in tumors, the somatic mutation rate is effectively higher and more tumors grow..	116	121	6	tumors	textual - yields annotated code, however, also yields 1 other	C0027651	Neoplasms			
1496	10470088	10	Our findings also indicate a new mechanism for disease severity: if a broader spectrum of mutations is selected in tumors, the somatic mutation rate is effectively higher and more tumors grow..	181	186	6	tumors	textual - yields annotated code, however, also yields 1 other	C0027651	Neoplasms			
1497	10470088	2	Truncating germline and somatic mutations (or, infrequently, allelic loss) occur in tumors in FAP familial adenomatous polyposis.	95	97	3	FAP	textual - yields annotated code, however, also yields 6 others	C0032580	Adenomatous Polyposis Coli			
1497	10470088	2	Truncating germline and somatic mutations (or, infrequently, allelic loss) occur in tumors in FAP familial adenomatous polyposis.	85	90	6	tumors	textual - yields annotated code, however, also yields 1 other	C0027651	Neoplasms			
1497	10470088	2	Truncating germline and somatic mutations (or, infrequently, allelic loss) occur in tumors in FAP familial adenomatous polyposis.	99	128	30	familial adenomatous polyposis	textual	C0032580	Adenomatous Polyposis Coli			
1498	10470088	4	Clues from attenuated polyposis, missense germline variants with mild disease and the somatic mutation cluster region (codons 1,250-1,450) indicate, however, that APC mutations might not result in simple loss of protein function.	12	31	20	attenuated polyposis	textual - does not yield annotated code	C1868019	ADENOMATOUS POLYPOSIS COLI, ATTENUATED			
1499	10470088	5	We have found that FAP patients with germline APC mutations within a small region (codons 1,194-1,392 at most) mainly show allelic loss in their colorectal adenomas, in contrast to other FAP patients, whose 'second hits' tend to occur by truncating mutations in the mutation cluster region.	20	22	3	FAP	intuitive - abstract defined FAP as "familial adenomatous polyposis" yields annotated code, however, also yields 6 others	C0032580	Adenomatous Polyposis Coli			
1499	10470088	5	We have found that FAP patients with germline APC mutations within a small region (codons 1,194-1,392 at most) mainly show allelic loss in their colorectal adenomas, in contrast to other FAP patients, whose 'second hits' tend to occur by truncating mutations in the mutation cluster region.	188	190	3	FAP	intuitive - abstract defined FAP as "familial adenomatous polyposis" yields annotated code, however, also yields 6 others	C0032580	Adenomatous Polyposis Coli			
1499	10470088	5	We have found that FAP patients with germline APC mutations within a small region (codons 1,194-1,392 at most) mainly show allelic loss in their colorectal adenomas, in contrast to other FAP patients, whose 'second hits' tend to occur by truncating mutations in the mutation cluster region.	146	164	19	colorectal adenomas	textual	C1302401	Adenoma of large intestine			
1500	10470088	6	Our results indicate that different APC mutations provide cells with different selective advantages, with mutations close to codon 1,300 providing the greatest advantage.					No annotation					
1501	10470088	7	Allelic loss is selected strongly in cells with one mutation near codon 1,300.					No annotation					
1503	10470088	9	APC is not, therefore, a classical tumor suppressor.	36	40	5	tumor	textual - yields annotated code, however, also yields 1 other	C0027651	Neoplasms			
1504	10470286	1	Mxi1 is thought to negatively regulate Myc function and may therefore be a potential tumor suppressor gene.	86	90	5	tumor	textual - yields annotated code, however, also yields 1 other	C0027651	Neoplasms			
1505	10470286	2	Little effort has yet been made to find alterations involving this gene in human solid tumors.	82	93	12	solid tumors	textual	C0280100	Solid tumour			
1506	10470286	3	We screened 31 human gastric cancers, 7 esophageal cancers, 85 bone and soft tissue tumors of various types, including 4 neurofibrosarcomas.	22	36	15	gastric cancers	textual	C0024623, C0699791	Malignant neoplasm of stomach, Stomach Carcinoma			
1506	10470286	3	We screened 31 human gastric cancers, 7 esophageal cancers, 85 bone and soft tissue tumors of various types, including 4 neurofibrosarcomas.	41	58	18	esophageal cancers	textual	C0014859, C0152018, C0546837	Esophageal Neoplasms, Esophageal carcinoma, Malignant neoplasm of esophagus			
1506	10470286	3	We screened 31 human gastric cancers, 7 esophageal cancers, 85 bone and soft tissue tumors of various types, including 4 neurofibrosarcomas.	64	90	27	bone and soft tissue tumors	intuitive - list is present a query of "bone tumors" yields annotated code	C0005967	Bone neoplasms			
1506	10470286	3	We screened 31 human gastric cancers, 7 esophageal cancers, 85 bone and soft tissue tumors of various types, including 4 neurofibrosarcomas.	73	90	18	soft tissue tumors	textual	C0037579	Soft Tissue Neoplasms			
1506	10470286	3	We screened 31 human gastric cancers, 7 esophageal cancers, 85 bone and soft tissue tumors of various types, including 4 neurofibrosarcomas.	122	139	18	neurofibrosarcomas	textual	C0206729	Neurofibrosarcoma			
1507	10470286	4	We also examined 29 human tumor cell lines consisting of 12 esophageal cancers, 7 glioma/glioblastomas and 10 others for Mxi1 mutations in exons 1, 2, 4 (HLH domain), 5 and 6.	27	31	5	tumor	textual - yields annotated code, however, also yields 1 other	C0027651	Neoplasms			
1507	10470286	4	We also examined 29 human tumor cell lines consisting of 12 esophageal cancers, 7 glioma/glioblastomas and 10 others for Mxi1 mutations in exons 1, 2, 4 (HLH domain), 5 and 6.	61	78	18	esophageal cancers	textual	C0014859, C0152018, C0546837	Esophageal Neoplasms, Esophageal carcinoma, Malignant neoplasm of esophagus			
1507	10470286	4	We also examined 29 human tumor cell lines consisting of 12 esophageal cancers, 7 glioma/glioblastomas and 10 others for Mxi1 mutations in exons 1, 2, 4 (HLH domain), 5 and 6.	83	88	6	glioma	textual	C0017638	Glioma			
1507	10470286	4	We also examined 29 human tumor cell lines consisting of 12 esophageal cancers, 7 glioma/glioblastomas and 10 others for Mxi1 mutations in exons 1, 2, 4 (HLH domain), 5 and 6.	90	102	13	glioblastomas	textual	C0017636 ] Glioblastoma	Glioblastoma			
1508	10470286	5	Polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) and subsequent sequencing revealed three distinct polymorphisms in the intron-exon boundary upstream from exon 6.					No annotation					
1509	10470286	6	We discovered a missense mutation, GCA to GTA (Ala 54 Val), in exon 2 in a neurofibrosarcoma patient (case 1), two missense mutations, AAA to CAA (Lys 118 Gln) and GAA to GGA (Glu 154 Gly) in exon 5 of another neurofibrosarcoma patient (case 2), and 3 amino acid substitutions, GTG to GCG (Val 179 Ala), GTT to GCT (Val 181 Ala) and TTC to CTC (Phe 186 Leu), in a third neurofibrosarcoma patient case 3.	76	92	17	neurofibrosarcoma	textual	C0206729	Neurofibrosarcoma			
1509	10470286	6	We discovered a missense mutation, GCA to GTA (Ala 54 Val), in exon 2 in a neurofibrosarcoma patient (case 1), two missense mutations, AAA to CAA (Lys 118 Gln) and GAA to GGA (Glu 154 Gly) in exon 5 of another neurofibrosarcoma patient (case 2), and 3 amino acid substitutions, GTG to GCG (Val 179 Ala), GTT to GCT (Val 181 Ala) and TTC to CTC (Phe 186 Leu), in a third neurofibrosarcoma patient case 3.	211	227	17	neurofibrosarcoma	textual	C0206729	Neurofibrosarcoma			
1509	10470286	6	We discovered a missense mutation, GCA to GTA (Ala 54 Val), in exon 2 in a neurofibrosarcoma patient (case 1), two missense mutations, AAA to CAA (Lys 118 Gln) and GAA to GGA (Glu 154 Gly) in exon 5 of another neurofibrosarcoma patient (case 2), and 3 amino acid substitutions, GTG to GCG (Val 179 Ala), GTT to GCT (Val 181 Ala) and TTC to CTC (Phe 186 Leu), in a third neurofibrosarcoma patient case 3.	371	387	17	neurofibrosarcoma	textual	C0206729	Neurofibrosarcoma			
1510	10470286	7	In case 3, loss of heterozygosity was also demonstrated by informative TTC 3/(TTC)2 polymorphism.					No annotation					
1511	10471457	1	BACKGROUND AND METHODS: Hereditary hemochromatosis is associated with homozygosity for the C282Y mutation in the hemochromatosis (HFE) gene on chromosome 6, elevated serum transferrin saturation, and excess iron deposits throughout the body.	25	50	26	Hereditary hemochromatosis	textual - yields annotate code and 1 other	C0392514	Hereditary hemochromatosis			
1511	10471457	1	BACKGROUND AND METHODS: Hereditary hemochromatosis is associated with homozygosity for the C282Y mutation in the hemochromatosis (HFE) gene on chromosome 6, elevated serum transferrin saturation, and excess iron deposits throughout the body.	36	50	15	hemochromatosis	textual - yields annotate code and 1 other	C0018995	Hemochromatosis			
1512	10471457	10	Seven of these 12 patients had elevated serum ferritin levels in 1994; 6 of the 7 had further increases in 1998, and 1 had a decrease, although the value remained elevated.					No annotation					
1513	10471457	11	The serum ferritin levels in the four other homozygous patients remained in the normal range.					No annotation					
1514	10471457	12	Eleven of the 16 homozygous subjects underwent liver biopsy; 3 had hepatic fibrosis, and 1, who had a history of excessive alcohol consumption, had cirrhosis and mild microvesicular steatosis.	68	83	16	hepatic fibrosis	textual	C0239946	Fibrosis, Liver			
1514	10471457	12	Eleven of the 16 homozygous subjects underwent liver biopsy; 3 had hepatic fibrosis, and 1, who had a history of excessive alcohol consumption, had cirrhosis and mild microvesicular steatosis.	149	157	9	cirrhosis	textual - yields annotated code and a possible alternative	C0023890	Liver Cirrhosis	Cirrhosis [C1623038]		
1514	10471457	12	Eleven of the 16 homozygous subjects underwent liver biopsy; 3 had hepatic fibrosis, and 1, who had a history of excessive alcohol consumption, had cirrhosis and mild microvesicular steatosis.	168	191	24	microvesicular steatosis	textual	C1850415	Microvesicular steatosis			
1515	10471457	13	Eight of the 16 homozygous subjects had clinical findings that were consistent with the presence of hereditary hemochromatosis, such as hepatomegaly, skin pigmentation, and arthritis.	101	126	26	hereditary hemochromatosis	textual - yields annotate code and 1 other	C0392514	Hereditary hemochromatosis			
1515	10471457	13	Eight of the 16 homozygous subjects had clinical findings that were consistent with the presence of hereditary hemochromatosis, such as hepatomegaly, skin pigmentation, and arthritis.	137	148	12	hepatomegaly	textual	C0019209	Hepatomegaly			
1515	10471457	13	Eight of the 16 homozygous subjects had clinical findings that were consistent with the presence of hereditary hemochromatosis, such as hepatomegaly, skin pigmentation, and arthritis.	151	167	17	skin pigmentation	textual - yields annotate code and 1 other	C1269684	Skin pigmentation - finding			
1515	10471457	13	Eight of the 16 homozygous subjects had clinical findings that were consistent with the presence of hereditary hemochromatosis, such as hepatomegaly, skin pigmentation, and arthritis.	174	182	9	arthritis	textual	C0003864	Arthritis			
1516	10471457	14	CONCLUSIONS: In a population of white adults of northern European ancestry, 0.5 percent were homozygous for the C282Y mutation in the HFE gene.					No annotation					
1517	10471457	15	However, only half of those who were homozygous had clinical features of hemochromatosis, and one quarter had serum ferritin levels that remained normal over a four-year period..	74	88	15	hemochromatosis	textual - yields annotate code and 1 other	C0018995	Hemochromatosis			
1518	10471457	2	To assess the prevalence and clinical expression of the HFE gene, we conducted a population-based study in Busselton, Australia.					No annotation					
1519	10471457	3	In 1994, we obtained blood samples for the determination of serum transferrin saturation and ferritin levels and the presence or absence of the C282Y mutation and the H63D mutation (which may contribute to increased hepatic iron levels) in 3011 unrelated white adults.					No annotation					
1520	10471457	4	We evaluated all subjects who had persistently elevated transferrin-saturation values (45 percent or higher) or were homozygous for the C282Y mutation.					No annotation					
1521	10471457	5	We recommended liver biopsy for subjects with serum ferritin levels of 300 ng per milliliter or higher.					No annotation					
1522	10471457	6	The subjects were followed for up to four years.					No annotation					
1523	10471457	7	RESULTS: Sixteen of the subjects (0.5 percent) were homozygous for the C282Y mutation, and 424 (14.1 percent) were heterozygous.					No annotation					
1524	10471457	8	The serum transferrin saturation was 45 percent or higher in 15 of the 16 who were homozygous; in 1 subject it was 43 percent.					No annotation					
1525	10471457	9	Four of the homozygous subjects had previously been given a diagnosis of hemochromatosis, and 12 had not.	74	88	15	hemochromatosis	textual - yields annotate code and 1 other	C0018995	Hemochromatosis			
1526	10472529	1	The clinical use of molecular analyses in recessive disorders relies on the exact characterization of both mutant alleles in the affected patient.					No annotation					
1527	10472529	2	This can be problematic when only part of the gene is examined or when relevant DNA alterations are not recognized by standard methods.					No annotation					
1528	10472529	3	We present a child in whom phenylketonuria was apparently caused by homozygosity for the mutation E390G in exon 11 of the phenylalanine hydroxylase (PAH) gene.	28	42	15	phenylketonuria	textual - yields both codes, however, also yields code for PAH gene	C0751434, C0031485	Classical phenylketonuria, Phenylketonurias			
1529	10472529	4	However, the clinical severity of the disease was not quite as mild as expected, the mutation was not identified in the father despite confirmed paternity, and the paternal allele showed a highly unusual pattern of polymorphic markers in the PAH gene.					No annotation					
1530	10472529	5	Presence of a large deletion involving exons 9, 10 and 11 of the phenylalanine hydroxylase gene was confirmed by long-range PCR.					No annotation					
1531	10472529	6	Diagnostic DNA analyses should include a comprehensive examination of the whole relevant gene in the patient and confirmation of carrier status in both parents..					No annotation					
1532	10480214	1	A boy developed contractures of the Achilles tendons at 3 years and of the postcervical muscles at 7 years, although neither contractures of the elbows nor cardiac abnormality were recognized by the age of 9 years.	17	52	36	contractures of the Achilles tendons	textual	C0410264	Contracture of tendo achilles			
1532	10480214	1	A boy developed contractures of the Achilles tendons at 3 years and of the postcervical muscles at 7 years, although neither contractures of the elbows nor cardiac abnormality were recognized by the age of 9 years.	17	95	79	contractures of the Achilles tendons at 3 years and of the postcervical muscles	intuitive - list is present, could not find suitable UMLS code for "contractures of the postcervical muscles"					
1532	10480214	1	A boy developed contractures of the Achilles tendons at 3 years and of the postcervical muscles at 7 years, although neither contractures of the elbows nor cardiac abnormality were recognized by the age of 9 years.	126	151	26	contractures of the elbows	textual	C1833142, C1849371	Contractures of elbows, Elbow contracture			
1532	10480214	1	A boy developed contractures of the Achilles tendons at 3 years and of the postcervical muscles at 7 years, although neither contractures of the elbows nor cardiac abnormality were recognized by the age of 9 years.	157	175	19	cardiac abnormality	textual	C0018798	Congenital Heart Defects			
1533	10480214	2	Muscle computed tomography scanning revealed changes characteristic of muscle involvement.					No annotation					
1534	10480214	3	Emerin was not detected in the biopsied muscle, and RT-PCR and PCR-based genomic DNA analyses of the emerin gene demonstrated no amplification product in the patient.					No annotation					
1535	10480348	1	The dark-adapted electroretinogram (ERG) of patients with Duchenne and Becker muscular dystrophy (DMD/BMD) shows a marked reduction in b-wave amplitude.	99	101	3	DMD	textual - yields annotated code, however, also yields 3 others	C0013264	Muscular Dystrophy, Duchenne			
1535	10480348	1	The dark-adapted electroretinogram (ERG) of patients with Duchenne and Becker muscular dystrophy (DMD/BMD) shows a marked reduction in b-wave amplitude.	103	105	3	BMD	textual - yields annotated code, however, also yields 4 others 	C0917713	Becker Muscular Dystrophy			
1535	10480348	1	The dark-adapted electroretinogram (ERG) of patients with Duchenne and Becker muscular dystrophy (DMD/BMD) shows a marked reduction in b-wave amplitude.	59	96	38	Duchenne and Becker muscular dystrophy	intuitive - list is present, a query of "Duchenne muscular dystrophy" yields annotated code	C0013264	Muscular Dystrophy, Duchenne			
1535	10480348	1	The dark-adapted electroretinogram (ERG) of patients with Duchenne and Becker muscular dystrophy (DMD/BMD) shows a marked reduction in b-wave amplitude.	72	96	25	Becker muscular dystrophy	textual	C0917713	Becker Muscular Dystrophy			
1536	10480348	2	Genotype-phenotype studies of mouse models for DMD show position-specific effects of the mutations upon the phenotype: mice with 5' defects of dystrophin have normal ERGs, those with defects in the central region have a normal b-wave amplitude associated with prolonged implicit times for both the b-wave and oscillatory potentials, and mice with 3' defects have a phenotype similar to that seen in DMD/BMD patients.	48	50	3	DMD	intuitive - abstract defines DMD as "Duchenne muscular dystrophy" a query of DMD yields annotated code, however, also yields 3 others	C0013264	Muscular Dystrophy, Duchenne			
1536	10480348	2	Genotype-phenotype studies of mouse models for DMD show position-specific effects of the mutations upon the phenotype: mice with 5' defects of dystrophin have normal ERGs, those with defects in the central region have a normal b-wave amplitude associated with prolonged implicit times for both the b-wave and oscillatory potentials, and mice with 3' defects have a phenotype similar to that seen in DMD/BMD patients.	400	402	3	DMD	intuitive - abstract defines DMD as "Duchenne muscular dystrophy" a query of DMD yields annotated code, however, also yields 3 others	C0013264	Muscular Dystrophy, Duchenne			
1536	10480348	2	Genotype-phenotype studies of mouse models for DMD show position-specific effects of the mutations upon the phenotype: mice with 5' defects of dystrophin have normal ERGs, those with defects in the central region have a normal b-wave amplitude associated with prolonged implicit times for both the b-wave and oscillatory potentials, and mice with 3' defects have a phenotype similar to that seen in DMD/BMD patients.	404	406	3	BMD	intuitive - abstract defines BMD as "Becker muscular dystrophy" a query of BMD yields annotated code, however, also yields 4 others 	C0917713	Becker Muscular Dystrophy			
1537	10480348	3	The mouse studies suggest a key role for the carboxyl terminal dystrophin isoform, Dp260, in retinal electrophysiology.					No annotation					
1538	10480348	4	We have undertaken a systematic evaluation of DMD/BMD patients through clinical examination and review of the literature in order to determine whether the position-specific effects of mutations noted in the mouse are present in man.	47	49	3	DMD	intuitive - abstract defines DMD as "Duchenne muscular dystrophy" a query of DMD yields annotated code, however, also yields 3 others	C0013264	Muscular Dystrophy, Duchenne			
1538	10480348	4	We have undertaken a systematic evaluation of DMD/BMD patients through clinical examination and review of the literature in order to determine whether the position-specific effects of mutations noted in the mouse are present in man.	51	53	3	BMD	intuitive - abstract defines BMD as "Becker muscular dystrophy" a query of BMD yields annotated code, however, also yields 4 others 	C0917713	Becker Muscular Dystrophy			
1540	10480348	6	Individuals with normal ERGs have mutations predominantly located 5' of the transcript initiation site of Dp260.					No annotation					
1541	10480348	7	Our results suggest that the most important determinant in the ERG b-wave phenotype is the mutation position, rather than muscle disease severity.					No annotation					
1542	10480348	8	Forty-six per cent of patients with mutations 5' of the Dp260 transcript start site have abnormal ERGs, as opposed to 94% with more distal mutations.					No annotation					
1543	10480348	9	The human genotype-phenotype correlations are consistent with a role for Dp260 in normal retinal electrophysiology and may also reflect the expression of other C-terminal dystrophin isoforms and their contributions to retinal signal transmission..					No annotation					
1544	10484765	10	These results provide evidence that the DM mutation acts in cis to reduce protein production (consistent with DMPK haploinsufficiency) and in trans as a 'riboregulator' to inhibit myogenesis..	41	42	2	DM	intuitive - abstract defines DM as "Myotonic dystrophy", a query of DM yields annotated code, however, also yields 8 others	C0027126	Myotonic Dystrophy			
1545	10484765	2	Studies using DM patient materials have often produced confusing results.	15	16	2	DM	intuitive - abstract defines DM as "Myotonic dystrophy", a query of DM yields annotated code, however, also yields 8 others	C0027126	Myotonic Dystrophy			
1546	10484765	3	Therefore, to study the effects of the DM mutation in a controlled environment, we have established a cell culture model system using C2C12 mouse myoblasts.	40	41	2	DM	intuitive - abstract defines DM as "Myotonic dystrophy", a query of DM yields annotated code, however, also yields 8 others	C0027126	Myotonic Dystrophy			
1547	10484765	4	By expressing chimeric reporter constructs containing a reporter gene fused to a human DMPK 3'-UTR, we identified both cis and trans effects that are mediated by the DM mutation.	167	168	2	DM	intuitive - abstract defines DM as "Myotonic dystrophy", a query of DM yields annotated code, however, also yields 8 others	C0027126	Myotonic Dystrophy			
1548	10484765	5	Our data show that a mutant DMPK 3'-UTR, with as few as 57 CTGs, had a negative cis effect on protein expression and resulted in the aggregation of reporter transcripts into discrete nuclear foci.					No annotation					
1549	10484765	6	We determined by deletion analysis that an expanded (CTG) (n) tract alone was sufficient to mediate these cis effects.					No annotation					
1550	10484765	7	Furthermore, in contrast to the normal DMPK 3'-UTR mRNA, a mutant DMPK 3'-UTR mRNA with CUG (200)selectively inhibited myogenic differentiation of C2C12 myoblasts.					No annotation					
1551	10484765	8	Genetic analysis and the Cre- loxP system were used to clearly demonstrate that the myoblast fusion defect could be rescued by eliminating the expression of the mutant DMPK 3'-UTR transcript.					No annotation					
1552	10484765	9	Characterization of spontaneous deletion events mapped the inhibitory effect to the (CTG) (n) expansion and/or the 3' end of the DMPK 3'-UTR.					No annotation					
1553	10484772	1	Coats' disease is characterized by abnormal retinal vascular development (so-called 'retinal telangiectasis') which results in massive intraretinal and subretinal lipid accumulation exudative retinal detachment.	1	14	14	Coats' disease	textual - yields annotated code and 1 other	C0154832	Exudative retinopathy			
1553	10484772	1	Coats' disease is characterized by abnormal retinal vascular development (so-called 'retinal telangiectasis') which results in massive intraretinal and subretinal lipid accumulation exudative retinal detachment.	86	107	22	retinal telangiectasis	textual	C0154832	Exudative retinopathy			
1553	10484772	1	Coats' disease is characterized by abnormal retinal vascular development (so-called 'retinal telangiectasis') which results in massive intraretinal and subretinal lipid accumulation exudative retinal detachment.	183	210	28	exudative retinal detachment	textual	C0154822	Serous retinal detachment			
1554	10484772	2	The classical form of Coats' disease is almost invariably isolated, unilateral and seen in males.	23	36	14	Coats' disease	textual - yields annotated code and 1 other	C0154832	Exudative retinopathy			
1555	10484772	3	A female with a unilateral variant of Coats' disease gave birth to a son affected by Norrie disease.	39	52	14	Coats' disease	textual - yields annotated code and 1 other	C0154832	Exudative retinopathy			
1555	10484772	3	A female with a unilateral variant of Coats' disease gave birth to a son affected by Norrie disease.	86	99	14	Norrie disease	textual	C0266526	NORRIE DISEASE			
1556	10484772	4	Both carried a missense mutation within the NDP gene on chromosome Xp11.2.					No annotation					
1557	10484772	5	Subsequently analysis of the retinas of nine enucleated eyes from males with Coats' disease demonstrated in one a somatic mutation in the NDP gene which was not present within non-retinal tissue.	78	91	14	Coats' disease	textual - yields annotated code and 1 other	C0154832	Exudative retinopathy			
1558	10484772	6	We suggest that Coats' telangiectasis is secondary to somatic mutation in the NDP gene which results in a deficiency of norrin (the protein product of the NDP gene) within the developing retina.	17	37	21	Coats' telangiectasis	textual - does not yield annotated code	C0154832	Exudative retinopathy			
1558	10484772	6	We suggest that Coats' telangiectasis is secondary to somatic mutation in the NDP gene which results in a deficiency of norrin (the protein product of the NDP gene) within the developing retina.	107	126	20	deficiency of norrin	intuitive - states a deficiency of a specific protein	C0033626	Protein Deficiency			
1559	10484772	7	This supports recent observations that the protein is critical for normal retinal vasculogenesis..					No annotation					
1560	10484981	1	Li-Fraumeni syndrome is an autosomal dominant disorder that is characterized by various types of cancer in childhood and adult cases.	1	20	20	Li-Fraumeni syndrome	textual	C0085390	Li-Fraumeni Syndrome			
1560	10484981	1	Li-Fraumeni syndrome is an autosomal dominant disorder that is characterized by various types of cancer in childhood and adult cases.	98	103	6	cancer	textual - yields annotated codes, however, also yields 2 others	C0006826,C1306459 	Malignant Neoplasms, Primary malignant neoplasm			
1561	10484981	10	Existence of the P16INK4A mutation and the hereditary TP53 mutation with or without loss of heterozygosity in the TP53 gene (seminoma/medulloblastoma) may be evidence for a common mechanism involved in tumorogenesis.	126	133	8	seminoma	textual	C0036631	Seminoma			
1561	10484981	10	Existence of the P16INK4A mutation and the hereditary TP53 mutation with or without loss of heterozygosity in the TP53 gene (seminoma/medulloblastoma) may be evidence for a common mechanism involved in tumorogenesis.	135	149	15	medulloblastoma	textual	C0025149	medulloblastoma			
1562	10484981	11	The gene alterations in TP53 and P16INK4A genes may be used as tumor markers in our family..	64	68	5	tumor	textual - yields annotated code, however, also yields 1 other	C0027651	Neoplasms			
1563	10484981	3	On the other hand, hereditary mutations of TP57KIP2, P15INK4B, and P16INK4A, which affect the cell cycle similar to TP53, were observed in some types of cancer.	154	159	6	cancer	textual - yields annotated codes, however, also yields 2 others	C0006826,C1306459 	Malignant Neoplasms, Primary malignant neoplasm			
1564	10484981	5	The propositus had a seminoma, his daughter a medulloblastoma, and one of his healthy cousins, a TP53 codon 292 missense point mutation (AAA-->ATA; Lys-->Ile) in the peripheral blood cells.	22	29	8	seminoma	textual	C0036631	Seminoma			
1564	10484981	5	The propositus had a seminoma, his daughter a medulloblastoma, and one of his healthy cousins, a TP53 codon 292 missense point mutation (AAA-->ATA; Lys-->Ile) in the peripheral blood cells.	47	61	15	medulloblastoma	textual	C0025149	medulloblastoma			
1565	10484981	6	Tumor tissue obtained from the propositus with the seminoma revealed loss of heterozygosity in the TP53 gene.	1	5	5	Tumor	textual - yields annotated code, however, also yields 1 other	C0027651	Neoplasms			
1565	10484981	6	Tumor tissue obtained from the propositus with the seminoma revealed loss of heterozygosity in the TP53 gene.	52	59	8	seminoma	textual	C0036631	Seminoma			
1566	10484981	7	In the analyses of tumor tissues from the propositus and his daughter, a P16INK4A codon 94 missense point mutation (GCG-->GAG; Ala-->Glu) was observed with the hereditary TP53 mutation.	20	24	5	tumor	textual - yields annotated code, however, also yields 1 other	C0027651	Neoplasms			
1567	10484981	9	No other gene alteration in TP53, P57KIP2, P15INK4B, and P16INK4A was observed.					No annotation					
1568	10487695	1	We previously reported nine children with an autosomally recessive form of congenital hypothyroidism due to an iodide transport defect in a large Hutterite family with extensive consanguinity living in central Canada.	76	100	25	congenital hypothyroidism	textual - yields annotated code and 1 possible synonym/alternative	C0342200	Congenital iodine deficiency syndrome	Cretinism [C0010308]		
1568	10487695	1	We previously reported nine children with an autosomally recessive form of congenital hypothyroidism due to an iodide transport defect in a large Hutterite family with extensive consanguinity living in central Canada.	112	134	23	iodide transport defect	textual	C0271826	Iodide transport defect			
1569	10487695	2	Since the original report, we have diagnosed congenital hypothyroidism by newborn TSH screening in 9 additional children from the family.	46	70	25	congenital hypothyroidism	textual - yields annotated code and 1 possible synonym/alternative	C0342200	Congenital iodine deficiency syndrome			
1570	10487695	3	We performed direct sequencing of the PCR products of each NIS (sodium/iodide symporter) gene exon with flanking introns amplified from genomic DNA extracted from peripheral blood cells of the patients.					No annotation					
1571	10487695	4	We identified a novel NIS gene mutation, G395R (Gly395-->Arg; GGA-->AGA), in 10 patients examined in the present study.					No annotation					
1572	10487695	5	All of the parents tested were heterozygous for the mutation, suggesting that the patients were homozygous.					No annotation					
1573	10487695	6	The mutation was located in the 10th transmembrane helix.					No annotation					
1574	10487695	7	Expression experiments by transfection of the mutant NIS complimentary DNA into COS-7 cells showed no perchlorate-sensitive iodide uptake, confirming that the mutation is the direct cause of the iodide transport defect in these patients.	196	218	23	iodide transport defect	textual	C0271826	Iodide transport defect			
1575	10487695	8	A patient who showed an intermediate saliva/serum technetium ratio (14.0; normal, > or = 20) and was considered to have a partial or less severe defect in the previous report (IX-24) did not have a NIS gene mutation.					No annotation					
1576	10487710	1	Familial neurohypophyseal diabetes insipidus (FNDI) is an inherited deficiency of the hormone arginine vasopressin (AVP) and is transmitted as an autosomal dominant trait.	47	50	4	FNDI	textual - does not yield annotated code	C0342394	Familial central diabetes insipidus			
1576	10487710	1	Familial neurohypophyseal diabetes insipidus (FNDI) is an inherited deficiency of the hormone arginine vasopressin (AVP) and is transmitted as an autosomal dominant trait.	1	44	44	Familial neurohypophyseal diabetes insipidus	textual - a query of the text does not yield the annotated code.  However, I found that "central diabetes insipidus" is a synonym for "neuropophyseal diabetes insipidus" and substituted it in the query to return the UMLS code	C0342394	Familial central diabetes insipidus			
1576	10487710	1	Familial neurohypophyseal diabetes insipidus (FNDI) is an inherited deficiency of the hormone arginine vasopressin (AVP) and is transmitted as an autosomal dominant trait.	69	93	25	deficiency of the hormone	textual	C0599750	hormone deficiency			
1577	10487710	10	Identification of the molecular defect underlying FNDI in affected families is a powerful tool for early asymptomatic diagnosis in infants..	51	54	4	FNDI	intuitive - FNDI was defined as "Familial neurohypophyseal diabetes insipidus" in the abstract	C0342394	Familial central diabetes insipidus			
1578	10487710	2	In the present study we have analyzed the AVP-neurophysin II (AVP-NPII) gene in a Spanish kindred.					No annotation					
1579	10487710	3	Studies were performed on seven members (four clinically affected) of the family.					No annotation					
1580	10487710	4	Patients were diagnosed at the Hospital Universitario Gregorio Maranon Madrid, Spain.					No annotation					
1581	10487710	5	The entire coding region of the AVP-NPII gene of all family members was amplified by PCR and sequenced.					No annotation					
1582	10487710	6	All affected individuals presented a missense mutation (G1757-->A) that replaces glycine at position 23 with arginine within the NPII domain.					No annotation					
1583	10487710	7	The substitution was confirmed by restriction endonuclease analysis and was present in heterozygosis.					No annotation					
1584	10487710	8	Additionally, one of the asymptomatic relatives (a girl 8 months old at the time of study) was identified as carrier of the same mutation and developed the disease 3 months later.					No annotation					
1585	10487710	9	The alteration found in the second exon of the gene in this family seems to be responsible for the disease, as all individuals harboring the mutation had been previously diagnosed or have eventually developed FNDI.	210	213	4	FNDI	intuitive - FNDI was defined as "Familial neurohypophyseal diabetes insipidus" in the abstract	C0342394	Familial central diabetes insipidus			
1586	10500204	1	Friedreich ataxia (FRDA), the most common of the inherited ataxias, is an autosomal recessive degenerative disorder, characterized clinically by onset before the age of 25 of progressive gait and limb ataxia, absence of deep tendon reflexes, extensor plantar responses, and loss of position and vibration sense in the lower limbs.	20	23	4	FRDA	textual - yields a possible alternative for friedreich ataxia	C0016719	Friedreich Ataxia	"C1856689	 FRIEDREICH ATAXIA 1 "		
1586	10500204	1	Friedreich ataxia (FRDA), the most common of the inherited ataxias, is an autosomal recessive degenerative disorder, characterized clinically by onset before the age of 25 of progressive gait and limb ataxia, absence of deep tendon reflexes, extensor plantar responses, and loss of position and vibration sense in the lower limbs.	1	17	17	Friedreich ataxia	textual	C0016719	Friedreich Ataxia			
1586	10500204	1	Friedreich ataxia (FRDA), the most common of the inherited ataxias, is an autosomal recessive degenerative disorder, characterized clinically by onset before the age of 25 of progressive gait and limb ataxia, absence of deep tendon reflexes, extensor plantar responses, and loss of position and vibration sense in the lower limbs.	60	66	7	ataxias	textual	C0004134	Ataxia			
1586	10500204	1	Friedreich ataxia (FRDA), the most common of the inherited ataxias, is an autosomal recessive degenerative disorder, characterized clinically by onset before the age of 25 of progressive gait and limb ataxia, absence of deep tendon reflexes, extensor plantar responses, and loss of position and vibration sense in the lower limbs.	95	115	21	degenerative disorder	textual	C1285162	Degenerative disorder			
1586	10500204	1	Friedreich ataxia (FRDA), the most common of the inherited ataxias, is an autosomal recessive degenerative disorder, characterized clinically by onset before the age of 25 of progressive gait and limb ataxia, absence of deep tendon reflexes, extensor plantar responses, and loss of position and vibration sense in the lower limbs.	197	207	11	limb ataxia	textual	C0750937	Ataxia, Appendicular			
1586	10500204	1	Friedreich ataxia (FRDA), the most common of the inherited ataxias, is an autosomal recessive degenerative disorder, characterized clinically by onset before the age of 25 of progressive gait and limb ataxia, absence of deep tendon reflexes, extensor plantar responses, and loss of position and vibration sense in the lower limbs.	210	240	31	absence of deep tendon reflexes	textual	C0241772	Reflex, Deep Tendon, Absent			
1587	10500204	2	FRDA is caused by a GAA triplet expansion in the first intron of the FRDA gene on chromosome 9q13 in 97% of patients.	1	4	4	FRDA	intuitive - FRDA was defined as "Friedreich ataxia" in abstract, a query of FRDA yields a possible alternative for friedreich ataxia	C0016719	Friedreich Ataxia	"C1856689	 FRIEDREICH ATAXIA 1 "		
1588	10500204	3	The FRDA gene encodes a widely expressed 210-aa protein, frataxin, which is located in mitochondria and is severely reduced in FRDA patients.	128	131	4	FRDA	intuitive - FRDA was defined as "Friedreich ataxia" in abstract, a query of FRDA yields a possible alternative for friedreich ataxia	C0016719	Friedreich Ataxia	"C1856689	 FRIEDREICH ATAXIA 1 "		
1589	10500204	4	Frataxin function is still unknown but the knockout of the yeast frataxin homologue gene (YFH1) showed a severe defect of mitochondrial respiration and loss of mtDNA associated with elevated intramitochondrial iron.					No annotation					
1590	10500204	5	Here we report in vivo evidence of impaired mitochondrial respiration in skeletal muscle of FRDA patients.	93	96	4	FRDA	intuitive - FRDA was defined as "Friedreich ataxia" in abstract, a query of FRDA yields a possible alternative for friedreich ataxia	C0016719	Friedreich Ataxia	"C1856689	 FRIEDREICH ATAXIA 1 "		
1591	10500204	6	Using phosphorus magnetic resonance spectroscopy we demonstrated a maximum rate of muscle mitochondrial ATP production V max below the normal range in all 12 FRDA patients and a strong negative correlation between mitochondrial V(max) and the number of GAA repeats in the smaller allele.	159	162	4	FRDA	intuitive - FRDA was defined as "Friedreich ataxia" in abstract, a query of FRDA yields a possible alternative for friedreich ataxia	C0016719	Friedreich Ataxia	"C1856689	 FRIEDREICH ATAXIA 1 "		
1592	10500204	7	Our results show that FRDA is a nuclear-encoded mitochondrial disorder affecting oxidative phosphorylation and give a rationale for treatments aimed to improve mitochondrial function in this condition..	23	26	4	FRDA	intuitive - FRDA was defined as "Friedreich ataxia" in abstract, a query of FRDA yields a possible alternative for friedreich ataxia	C0016719	Friedreich Ataxia	"C1856689	 FRIEDREICH ATAXIA 1 "		
1593	10502833	1	Argininemia is a rare autossomal recessive disorder caused by deficiency in the cytosolic liver-type arginase enzyme L-arginine urea-hydrolase; E.C. 3.5.3.1.	1	11	11	Argininemia	textual - yields annotated code	C0268548	Hyperargininemia			
1593	10502833	1	Argininemia is a rare autossomal recessive disorder caused by deficiency in the cytosolic liver-type arginase enzyme L-arginine urea-hydrolase; E.C. 3.5.3.1.	63	142	80	deficiency in the cytosolic liver-type arginase enzyme L-arginine urea-hydrolase	intuitive - text states a deficiency of a specific enzyme	C0149676	Enzyme Deficiency			
1594	10502833	3	All patients were found to be homozygous for a newly identified C ->T transition in codon 21 (exon 2) substituting arginine for a premature stop codon (R21X: CGA to TGA) and generating a NlaIII restriction site.					No annotation					
1595	10502833	4	Restriction digestion following PCR amplification of ARG1 exon 2 confirmed the presence of the mutation..					No annotation					
1596	10519880	2	The expression of CYP27 has been mostly explored using cultured fibroblasts, prompting the examination of the transcripts from blood leucocytes as a simple and rapid technique.					No annotation					
1597	10519880	3	METHODS: An alteration in CYP27 of the proband was searched for by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis and subsequent sequencing.					No annotation					
1598	10519880	4	Samples of RNA were subjected to reverse transcription PCR (RT-PCR) and the product of the proband was amplified with nested primers and sequenced.					No annotation					
1599	10519880	5	RESULTS: A homozygous G to A transition at the 5' end of intron 7 was detected in the patient.					No annotation					
1600	10519880	6	In RT-PCR analysis, only a truncated transcript was detected in the patient, whereas both normal and truncated transcripts were detected in the siblings.					No annotation					
1601	10519880	7	The sequencing of the patient's cDNA fragment disclosed a direct conjuction of exon 6 and exon 8.					No annotation					
1602	10519880	8	CONCLUSION: The mutation at splice donor site and the truncation of mRNA were identical with those of a recently reported Italian patient, although different in symptomatology.					No annotation					
1603	10519880	9	The application of blood leucocytes can be a simple technique on analysing a constructive abnormality of CYP27 mRNA..					No annotation					
1604	10521293	1	Wolfram syndrome is an autosomal recessive neurodegenerative disorder characterized by juvenile-onset diabetes mellitus and progressive optic atrophy.	1	16	16	Wolfram syndrome	textual	C0043207	Wolfram Syndrome			
1604	10521293	1	Wolfram syndrome is an autosomal recessive neurodegenerative disorder characterized by juvenile-onset diabetes mellitus and progressive optic atrophy.	44	69	26	neurodegenerative disorder	textual - yields annotated code and 1 other	C0524851	Neurodegenerative Disorders			
1604	10521293	1	Wolfram syndrome is an autosomal recessive neurodegenerative disorder characterized by juvenile-onset diabetes mellitus and progressive optic atrophy.	88	119	32	juvenile-onset diabetes mellitus	textual - yields annotated code only.  Included is a more general alternative	C0011854	Diabetes Mellitus, Insulin-Dependent	C0011849 Diabetes Mellitus		
1604	10521293	1	Wolfram syndrome is an autosomal recessive neurodegenerative disorder characterized by juvenile-onset diabetes mellitus and progressive optic atrophy.	137	149	13	optic atrophy	textual	C0029124	Optic Atrophy			
1605	10521293	10	Although some interesting cases were noted, consideration of the small sample size and frequency of each mutation indicated no clear-cut correlations between any of the observed mutations and disease severity.					No annotation					
1606	10521293	11	There were no obvious mutation hot spots or clusters.					No annotation					
1607	10521293	12	Hence, molecular screening for Wolfram syndrome in affected families and for Wolfram syndrome-carrier status in subjects with psychiatric disorders or diabetes mellitus will require complete analysis of exon 8 and upstream exons..	32	47	16	Wolfram syndrome	textual	C0043207	Wolfram Syndrome			
1607	10521293	12	Hence, molecular screening for Wolfram syndrome in affected families and for Wolfram syndrome-carrier status in subjects with psychiatric disorders or diabetes mellitus will require complete analysis of exon 8 and upstream exons..	78	93	16	Wolfram syndrome	textual	C0043207	Wolfram Syndrome			
1607	10521293	12	Hence, molecular screening for Wolfram syndrome in affected families and for Wolfram syndrome-carrier status in subjects with psychiatric disorders or diabetes mellitus will require complete analysis of exon 8 and upstream exons..	127	147	21	psychiatric disorders	textual	C0004936	Mental disorders			
1607	10521293	12	Hence, molecular screening for Wolfram syndrome in affected families and for Wolfram syndrome-carrier status in subjects with psychiatric disorders or diabetes mellitus will require complete analysis of exon 8 and upstream exons..	152	168	17	diabetes mellitus	intuitive - appears to be in reference to the juvenile-onset variety, a query of the text only yields the more general alternative	C0011854	Diabetes Mellitus, Insulin-Dependent	C0011849 ] Diabetes Mellitus		
1608	10521293	2	mtDNA deletions have been described, and a gene (WFS1) recently has been identified, on chromosome 4p16, encoding a predicted 890 amino acid transmembrane protein.					No annotation					
1609	10521293	4	DNA was also screened for structural rearrangements (deletions and duplications) and point mutations in mtDNA.					No annotation					
1610	10521293	5	No pathogenic mtDNA mutations were found in our cohort.					No annotation					
1611	10521293	6	We identified 24 mutations in the WFS1 gene: 8 nonsense mutations, 8 missense mutations, 3 in-frame deletions, 1 in-frame insertion, and 4 frameshift mutations.					No annotation					
1612	10521293	7	Of these, 23 were novel mutations, and most occurred in exon 8.					No annotation					
1613	10521293	8	The majority of patients were compound heterozygotes for two mutations, and there was no common founder mutation.					No annotation					
1614	10521293	9	The data were also analyzed for genotype-phenotype relationships.					No annotation					
1615	10528243	10	The overall severity score indicated a mild disease, P < 0.001.					No annotation					
1616	10528243	11	Mutational analysis revealed absence of M694V homozygosity, P < 0.01, compared to our regular FMF population.	95	97	3	FMF	intuitive - abstract defines FMF as "familial Mediterranean fever" a query of FMF yields annotated code, however, also yields 1 other	C0031069	Familial Mediterranean Fever			
1617	10528243	12	We conclude that the onset of FMF in a late age defines a milder form of disease with typical clinical, demographic, and molecular genetic characteristics..	31	33	3	FMF	intuitive - abstract defines FMF as "familial Mediterranean fever" a query of FMF yields annotated code, however, also yields 1 other	C0031069	Familial Mediterranean Fever			
1618	10528243	2	The control group consisted of 40 consecutive FMF patients, who arrived at the FMF clinic for their regular follow-up visit and were 40 years of age or older at the time of the examination.	47	49	3	FMF	intuitive - abstract defines FMF as "familial Mediterranean fever" a query of FMF yields annotated code, however, also yields 1 other	C0031069	Familial Mediterranean Fever			
1618	10528243	2	The control group consisted of 40 consecutive FMF patients, who arrived at the FMF clinic for their regular follow-up visit and were 40 years of age or older at the time of the examination.	80	82	3	FMF	intuitive - abstract defines FMF as "familial Mediterranean fever" a query of FMF yields annotated code, however, also yields 1 other	C0031069	Familial Mediterranean Fever			
1619	10528243	3	The severity of the disease in patients and controls was determined using a modified score, developed previously.					No annotation					
1621	10528243	5	Only 20 of 4000 (0.5%) patients had late-onset FMF.	48	50	3	FMF	intuitive - abstract defines FMF as "familial Mediterranean fever" a query of FMF yields annotated code, however, also yields 1 other	C0031069	Familial Mediterranean Fever			
1622	10528243	6	These patients were mostly men, of non-North African origin, P < 0.05 compared to controls.					No annotation					
1623	10528243	7	All had abdominal attacks and in most these were the only manifestation of their disease, P < 0.001.	9	25	17	abdominal attacks	Could not find suitable UMLS code					
1624	10528243	8	None had chronic or prolonged manifestations of FMF, for example, amyloidosis, chronic arthritis, or protracted myalgia, P < 0.001.	49	51	3	FMF	intuitive - abstract defines FMF as "familial Mediterranean fever" a query of FMF yields annotated code, however, also yields 1 other	C0031069	Familial Mediterranean Fever			
1624	10528243	8	None had chronic or prolonged manifestations of FMF, for example, amyloidosis, chronic arthritis, or protracted myalgia, P < 0.001.	67	77	11	amyloidosis	textual	C0002726	Amyloidosis			
1624	10528243	8	None had chronic or prolonged manifestations of FMF, for example, amyloidosis, chronic arthritis, or protracted myalgia, P < 0.001.	80	96	17	chronic arthritis	textual	C0263680	Chronic arthritis			
1624	10528243	8	None had chronic or prolonged manifestations of FMF, for example, amyloidosis, chronic arthritis, or protracted myalgia, P < 0.001.	113	119	7	myalgia	textual	C0231528	Myalgia			
1625	10528243	9	The response to treatment was good despite using low colchicine dose, P < 0.05.					No annotation					
1626	10528853	2	However, the widespread use of BRCA1 testing has been limited to date by three principal concerns: the fear of loss of health and life insurance, the uncertain clinical value of a positive test result, and the current lack of an inexpensive and sensitive screening test for BRCA1 mutations.					No annotation					
1627	10528853	3	We have developed an inexpensive system for gene mutational scanning, based on a combination of extensive multiplex PCR amplification and two dimensional electrophoresis.					No annotation					
1628	10528853	4	The efficiency of this system, as a screening test for BRCA1 mutations, was evaluated in a panel of 60 samples from high risk women, 14 of which contained a previously identified mutation in BRCA1.					No annotation					
1629	10528853	5	All 14 mutations were identified, as well as an additional five that had previously escaped detection.					No annotation					
1630	10528853	6	In addition to the 19 mutations, a total of 15 different polymorphic variants were scored, most of which were recurring.					No annotation					
1631	10528853	7	All were confirmed by nucleotide sequencing.					No annotation					
1632	10528853	8	The cost of screening per sample was calculated to be approximately US$70 for the manual technique used in this study, and may be reduced to approximately US$10 with the introduction of commercially available PCR robotics and fluorescent imaging.					No annotation					
1633	10528853	9	Implementation of this method of mutation screening in the research and clinical setting should permit rapid accrual of quantitative data on genotype-phenotype associations for the evaluation of diagnostic testing..					No annotation					
1634	10528860	1	We report on a boy with a maternal uniparental disomy for chromosome 14 UPD 14.	36	71	36	uniparental disomy for chromosome 14	textual	C0795850	chromosome 14 uniparental disomy syndrome			
1634	10528860	1	We report on a boy with a maternal uniparental disomy for chromosome 14 UPD 14.	73	78	6	UPD 14	textual - does not yield annotated code	C0795850	chromosome 14 uniparental disomy syndrome			
1635	10528860	10	There were no behavioural problems or sleep disturbance.	15	34	20	behavioural problems	textual - yields annotated code and 1 other	C0260653	Problem behavior			
1635	10528860	10	There were no behavioural problems or sleep disturbance.	39	55	17	sleep disturbance	textual - yields annotated code and 2 possible alternatives/synonyms	C0037317	Sleep disturbances	 Dyssomnias [C0700201] Sleep Disorders [C0851578]		
1636	10528860	11	Chromosomal analysis was normal 46,XY.					No annotation					
1637	10528860	12	DNA analysis for Prader-Willi syndrome showed no abnormalities.	18	38	21	Prader-Willi syndrome	textual	C0032897	Prader-Willi Syndrome			
1638	10528860	13	Two years later he was re-examined because we thought his features fitted the PWS-like phenotype associated with maternal UPD 14.	79	81	3	PWS	intuitive -  abstract defined PWS as "Prader-Willi syndrome" a query of PWS yields annotated code	C0032897	Prader-Willi Syndrome			
1638	10528860	13	Two years later he was re-examined because we thought his features fitted the PWS-like phenotype associated with maternal UPD 14.	123	128	6	UPD 14	intuitive -  abstract defined UPD 14 as "uniparental disomy for chromosome 14" a query of UPD 14 does not yield annotated code	C0795850	chromosome 14 uniparental disomy syndrome			
1639	10528860	14	At that time precocious puberty was evident.	14	31	18	precocious puberty	textual - yields annotated cod and 1 other	C0034013	Precocious Puberty			
1640	10528860	15	DNA analysis showed maternal heterodisomy for chromosome 14.	30	41	12	heterodisomy	Could not find suitable UMLS code					
1641	10528860	16	In all the previously described 11 cases with maternal UPD(14), a Robertsonian translocation involving chromosome 14 was detected cytogenetically before DNA analysis.	56	62	7	UPD(14)	intuitive -  abstract defined UPD(14) as "uniparental disomy for chromosome 14" a query of UPD(14) does not yield annotated code	C0795850	chromosome 14 uniparental disomy syndrome			
1642	10528860	17	This is the first report of diagnosis of maternal UPD(14) based on clinical features.	51	57	7	UPD(14)	intuitive -  abstract defined UPD(14) as "uniparental disomy for chromosome 14" a query of UPD(14) does not yield annotated code	C0795850	chromosome 14 uniparental disomy syndrome			
1643	10528860	18	This finding underlines the importance of DNA analysis for maternal UPD(14) in patients with a similar PWS-like phenotype even without previous identification of a Robertsonian translocation involving chromosome 14..	104	106	3	PWS	intuitive -  abstract defined PWS as "Prader-Willi syndrome" a query of PWS yields annotated code	C0032897	Prader-Willi Syndrome			
1643	10528860	18	This finding underlines the importance of DNA analysis for maternal UPD(14) in patients with a similar PWS-like phenotype even without previous identification of a Robertsonian translocation involving chromosome 14..	69	75	7	UPD(14)	intuitive -  abstract defined UPD(14) as "uniparental disomy for chromosome 14" a query of UPD(14) does not yield annotated code	C0795850	chromosome 14 uniparental disomy syndrome			
1644	10528860	3	He showed short stature, obesity, mild developmental delay, cryptorchidism, and some mild dysmorphic features.	26	32	7	obesity	textual - yields annotated code and 1 other	C0028754	Obesity			
1644	10528860	3	He showed short stature, obesity, mild developmental delay, cryptorchidism, and some mild dysmorphic features.	40	58	19	developmental delay	textual	C0424605	Developmental delay (disorder)			
1644	10528860	3	He showed short stature, obesity, mild developmental delay, cryptorchidism, and some mild dysmorphic features.	61	74	14	cryptorchidism	textual	C0010417	Cryptorchidism			
1644	10528860	3	He showed short stature, obesity, mild developmental delay, cryptorchidism, and some mild dysmorphic features.	91	109	19	dysmorphic features	textual	C0432072	Dysmorphic features			
1645	10528860	4	The history further indicated intrauterine growth retardation at the end of the pregnancy.	44	61	18	growth retardation	textual	C0151686	Growth retardation			
1646	10528860	5	His mother was 44 years of age at the time of his birth.					No annotation					
1647	10528860	6	After birth he showed hypotonia with poor sucking, for which gavage feeding was needed.	23	31	9	hypotonia	textual - text yields annotated code	C0026827	Muscle hypotonia			
1648	10528860	7	Motor development was delayed.	1	29	29	Motor development was delayed	textual - a query of the exact text does not yield annotated code.	C1864913	Delay in motor development			
1649	10528860	8	After 1 year he became obese despite a normal appetite.	24	28	5	obese	textual - yields annotated code	C0028754	Obesity			
1650	10528860	9	Recurrent middle ear infections, a high pain threshold, and a great skill with jigsaw puzzles were reported.	11	31	21	middle ear infections	textual	C0029882	Otitis Media			
1651	10533031	2	An expansion of a GAA trinucleotide repeat in intron 1 of the gene is present in more than 95% of mutant alleles.					No annotation					
1652	10533031	3	Of the 83 people we studied who have mutations in FRDA, 78 are homozygous for an expanded GAA repeat; the other five patients have an expansion in one allele and a point mutation in the other.					No annotation					
1653	10533031	4	Here we present a detailed clinical and genetic study of a subset of 51 patients homozygous for an expansion of the GAA repeat.					No annotation					
1654	10533031	5	We found a correlation between the size of the smaller of the two expanded alleles and age at onset, age into wheelchair, scoliosis, impaired vibration sense, and the presence of foot deformity.	123	131	9	scoliosis	intuitive - yields annotated code, also yields 2 possible alternatives.  The congenital type seemed appropriate given context.	C0559260	Congenital scoliosis	Acquired scoliosis [C0700208], Scoliosis, unspecified [C0036439]		
1654	10533031	5	We found a correlation between the size of the smaller of the two expanded alleles and age at onset, age into wheelchair, scoliosis, impaired vibration sense, and the presence of foot deformity.	180	193	14	foot deformity	intuitive - yields annotated code and 1 possible alternative.  The congenital type seemed appropriate given context.	C0016508	Congenital Foot Deformity	Foot Deformities [C0016506]		
1655	10533031	6	There was no significant correlation between the size of the smaller allele and cardiomyopathy, diabetes mellitus, loss of proprioception, or bladder symptoms.	81	94	14	cardiomyopathy	textual	C0878544	Cardiomyopathies			
1655	10533031	6	There was no significant correlation between the size of the smaller allele and cardiomyopathy, diabetes mellitus, loss of proprioception, or bladder symptoms.	97	113	17	diabetes mellitus	textual	C0011849	Diabetes Mellitus			
1655	10533031	6	There was no significant correlation between the size of the smaller allele and cardiomyopathy, diabetes mellitus, loss of proprioception, or bladder symptoms.	116	137	22	loss of proprioception	textual	C1112616	Loss of proprioception	"C1856691 	Impaired proprioception "		
1655	10533031	6	There was no significant correlation between the size of the smaller allele and cardiomyopathy, diabetes mellitus, loss of proprioception, or bladder symptoms.	143	158	16	bladder symptoms	textual	C0741548	BLADDER SYMPTOMS			
1656	10533031	7	The larger allele size correlated with bladder symptoms and the presence of foot deformity.	40	55	16	bladder symptoms	textual	C0741548	BLADDER SYMPTOMS			
1656	10533031	7	The larger allele size correlated with bladder symptoms and the presence of foot deformity.	77	90	14	foot deformity	intuitive - yields annotated code and 1 possible alternative.  The congenital type seemed appropriate given context.	C0016508	Congenital Foot Deformity			
1657	10533031	8	The duration of disease is correlated with wheelchair use and the presence of diabetes, scoliosis, bladder symptoms and impaired proprioception, and vibration sense but no other complications studied..	79	86	8	diabetes	intuitive - in reference to diabetes mellitus, yields annotated code and 2 others	C0011849	Diabetes Mellitus			
1657	10533031	8	The duration of disease is correlated with wheelchair use and the presence of diabetes, scoliosis, bladder symptoms and impaired proprioception, and vibration sense but no other complications studied..	89	97	9	scoliosis	intuitive - yields annotated code, also yields 2 possible alternatives.  The congenital type seemed appropriate given context.	C0559260	Congenital scoliosis			
1657	10533031	8	The duration of disease is correlated with wheelchair use and the presence of diabetes, scoliosis, bladder symptoms and impaired proprioception, and vibration sense but no other complications studied..	100	115	16	bladder symptoms	textual	C0741548	BLADDER SYMPTOMS			
1657	10533031	8	The duration of disease is correlated with wheelchair use and the presence of diabetes, scoliosis, bladder symptoms and impaired proprioception, and vibration sense but no other complications studied..	121	143	23	impaired proprioception	textual - yields annotated code	C1856691	Impaired proprioception	"C1112616 	 Loss of proprioception "		
1658	10533068	3	Twenty-three different mutations including 12 novel ones were identified in 28 patients.					No annotation					
1659	10533068	4	Mutations identified in this study include 19 missense mutations, two nonsense mutations, one intragenic deletion, four microdeletions, one insertion, and one intronic sequence substitution that is likely to result in a splice site defect.					No annotation					
1660	10533068	5	Two novel mutations, c.38T-->C (L13P) and c.667T-->C (C223R), respectively, present the first genetic evidence for the functional significance of the putative leader peptide sequence and for the functional significance at the carboxyl terminal of the XLRS1 protein beyond the discoidin domain.					No annotation					
1661	10533068	6	Mutations in 25 of the families were localized to exons 4-6, emphasizing the critical functional significance of the discoidin domain of the XLRS1 protein..					No annotation					
1662	10541953	1	We studied whether the beneficial effects of growth hormone (GH) treatment on growth and body composition in PWS are accompanied by an improvement in respiratory function.	110	112	3	PWS	intuitive -  abstract defined PWS as "Prader-Willi syndrome" a query of PWS yields annotated code	C0032897	Prader-Willi Syndrome			
1663	10541953	2	We measured resting ventilation, airway occlusion pressure P 0.1 and ventilatory response to CO(2) in nine children, aged 7-14 years, before and 6-9 months after the start of GH treatment.					No annotation					
1664	10541953	3	During GH treatment, resting ventilation increased by 26%, P(0.1) by 72% and the response to CO(2) by 65% P Y 0.002, <0.04 and <0.02, respectively.					No annotation					
1665	10541953	4	This observed increase in ventilatory output was not correlated to changes in body mass index.					No annotation					
1666	10541953	5	CONCLUSION: Treatment of children with Prader-Willi syndrome (PWS) seems to have a stimulatory effect on central respiratory structures.	63	65	3	PWS	textual	C0032897	Prader-Willi Syndrome			
1666	10541953	5	CONCLUSION: Treatment of children with Prader-Willi syndrome (PWS) seems to have a stimulatory effect on central respiratory structures.	40	60	21	Prader-Willi syndrome	textual	C0032897	Prader-Willi Syndrome			
1667	10541953	6	The observed increase in ventilation and inspiratory drive may contribute to the improved activity level reported by parents of PWS children during growth hormone therapy..	129	131	3	PWS	intuitive -  abstract defined PWS as "Prader-Willi syndrome" a query of PWS yields annotated code	C0032897	Prader-Willi Syndrome			
1668	10543403	1	Friedreich ataxia (FRDA) is the most common inherited ataxia.	20	23	4	FRDA	textual - yields a possible alternative for friedreich ataxia	C0016719	Friedreich Ataxia	"C1856689	 FRIEDREICH ATAXIA 1 "		
1668	10543403	1	Friedreich ataxia (FRDA) is the most common inherited ataxia.	1	17	17	Friedreich ataxia	textual	C0016719	Friedreich Ataxia			
1668	10543403	1	Friedreich ataxia (FRDA) is the most common inherited ataxia.	12	17	6	ataxia	textual	C0004134	Ataxia			
1670	10543403	3	The other 2% are point mutations.					No annotation					
1671	10543403	4	Of the 17 point mutations so far described, three appear to be more common.					No annotation					
1673	10543403	6	G130V, when present with an expanded GAA repeat on the other allele, is associated with an atypical FRDA phenotype.	101	104	4	FRDA	intuitive - FRDA was defined as "Friedreich ataxia" in abstract, a query of FRDA yields a possible alternative for friedreich ataxia	C0016719	Friedreich Ataxia	"C1856689	 FRIEDREICH ATAXIA 1 "		
1674	10543403	7	Haplotype analysis was undertaken on the four families who have been described with this mutation.					No annotation					
1675	10543403	8	The results suggest a common founder for this mutation.					No annotation					
1676	10543403	9	Although marked differences in extragenic marker haplotypes were seen in one family, similar intragenic haplotyping suggests the same mutation founder for this family with the differences explicable by two recombination events..					No annotation					
1677	10545613	1	Most fragile X syndrome patients have expansion of a CGG (n)sequence with >200 repeats (full mutation) in the FMR1 gene responsible for this condition.	6	23	18	fragile X syndrome	textual	C0016667	Fragile X Syndrom			
1678	10545613	2	Hypermethylation of the expanded repeat and of the FMR1 promoter is almost always present and apparently suppresses transcription, resulting in absence of the FMR1 protein.					No annotation					
1679	10545613	3	We recently showed that transcriptional reactivation of FMR1 full mutations can be achieved by inducing DNA demethylation with 5-azadeoxycytidine 5-azadC.					No annotation					
1680	10545613	4	The level of histone acetylation is another important factor in regulating gene expression; therefore, we treated lymphoblastoid cell lines of non-mosaic full mutation patients with three drugs capable of inducing histone hyperacetylation.					No annotation					
1681	10545613	5	We observed a consistent, although modest, reactivation of the FMR1 gene with 4-phenylbutyrate, sodium butyrate and trichostatin A, as shown by RT-PCR.					No annotation					
1682	10545613	6	However, we report that combining these drugs with 5-azadC results in a 2- to 5-fold increase in FMR1 mRNA levels obtained with 5-azadC alone, thus showing a marked synergistic effect of histone hyperacetylation and DNA demethylation in the reactivation of FMR1 full mutations..					No annotation					
1683	10554035	11	Kinzler (eds.), The Genetic Basis of Human Cancer, pp. 455-473, McGraw-Hill, 1998.	44	49	6	Cancer	textual - yields annotated codes, however, also yields 2 others	C0006826,C1306459 	Malignant Neoplasms, Primary malignant neoplasm			
1684	10554035	13	Latif et al., Science (Washington DC), 260: 1317-1320, 1993.					No annotation					
1686	10554035	19	Genet., 55: 1092-1102, 1994; Clinical Research Group for Japan, Hum.					No annotation					
1687	10554035	21	Genet., 4: 2233-2237, 1995;					No annotation					
1688	10554035	27	Zbar, Cancer Surv., 25: 219-232, 1995.	7	12	6	Cancer	textual - yields annotated codes, however, also yields 2 others	C0006826,C1306459 	Malignant Neoplasms, Primary malignant neoplasm			
1690	10554035	32	We reexamined a group of VHL patients shown previously by single-strand conformation and sequencing analysis not to harbor point mutations in the VHL locus.	26	28	3	VHL	intuitive - abstract defines VHL as "von Hippel-Lindau", a query of VHL yields annotated code, however, also yields 2 others	C0019562	Von Hippel-Lindau Syndrome			
1691	10554035	33	We found constitutional deletions in 29 of 30 VHL patients in this group using cosmid and P1 probes that cover the VHL locus.	47	49	3	VHL	intuitive - abstract defines VHL as "von Hippel-Lindau", a query of VHL yields annotated code, however, also yields 2 others	C0019562	Von Hippel-Lindau Syndrome			
1692	10554035	34	We then tested six phenotypically normal offspring from four of these VHL families: two were found to carry the deletion and the other four were deletion-free.	71	73	3	VHL	intuitive - abstract defines VHL as "von Hippel-Lindau", a query of VHL yields annotated code, however, also yields 2 others	C0019562	Von Hippel-Lindau Syndrome			
1695	10554035	5	Assoc., 273: 564-570, 1995;					No annotation					
1696	10554035	7	Kaelin, Jr., Medicine (Baltimore), 76: 381-391, 1997;					No annotation					
1697	10556283	2	We have searched for hSNF5/INI1 mutations in 229 tumors of various origins using a screening method based on denaturing high-performance liquid chromatography.	50	55	6	tumors	textual - yields annotated code, however, also yields 1 other	C0027651	Neoplasms			
1698	10556283	3	A total of 31 homozygous deletions and 36 point alterations were identified.					No annotation					
1699	10556283	4	Point mutations were scattered along the coding sequence and included 15 nonsense, 15 frameshift, three splice site, two missense and one editing mutations.					No annotation					
1700	10556283	5	Mutations were retrieved in most rhabdoid tumors, whatever their sites of occurrence, indicating the common pathogenetic origin of these tumors.	34	48	15	rhabdoid tumors	textual	C0206743	Rhabdoid Tumor			
1700	10556283	5	Mutations were retrieved in most rhabdoid tumors, whatever their sites of occurrence, indicating the common pathogenetic origin of these tumors.	43	48	6	tumors	intuitive - tumors are in reference to rhabdoid tumors	C0206743	Rhabdoid Tumor			
1701	10556283	6	Recurrent hSNF5/INI1 alterations were also observed in choroid plexus carcinomas and in a subset of central primitive neuroectodermal tumors (cPNETs) and medulloblastomas.	56	80	25	choroid plexus carcinomas	textual	C0431109	Choroid Plexus Carcinoma			
1701	10556283	6	Recurrent hSNF5/INI1 alterations were also observed in choroid plexus carcinomas and in a subset of central primitive neuroectodermal tumors (cPNETs) and medulloblastomas.	101	140	40	central primitive neuroectodermal tumors	textual	C0206663	Neuroectodermal Tumor, Primitive			
1701	10556283	6	Recurrent hSNF5/INI1 alterations were also observed in choroid plexus carcinomas and in a subset of central primitive neuroectodermal tumors (cPNETs) and medulloblastomas.	143	148	6	cPNETs	textual - does not yield annotated code however.	C0206663	Neuroectodermal Tumor, Primitive			
1701	10556283	6	Recurrent hSNF5/INI1 alterations were also observed in choroid plexus carcinomas and in a subset of central primitive neuroectodermal tumors (cPNETs) and medulloblastomas.	155	170	16	medulloblastomas	textual	C0025149	medulloblastoma			
1702	10556283	7	In contrast, hSNF5/INI1 point mutations were not detected in breast cancers, Wilms' tumors, gliomas, ependymomas, sarcomas and other tumor types, even though most analyzed cases harbored loss of heterozygosity at 22q11.2 loci.	62	75	14	breast cancers	textual	C0678222, C0006142	Breast Carcinoma, Malignant neoplasm of breast			
1702	10556283	7	In contrast, hSNF5/INI1 point mutations were not detected in breast cancers, Wilms' tumors, gliomas, ependymomas, sarcomas and other tumor types, even though most analyzed cases harbored loss of heterozygosity at 22q11.2 loci.	78	90	13	Wilms' tumors	textual	C0027708	Nephroblastoma			
1702	10556283	7	In contrast, hSNF5/INI1 point mutations were not detected in breast cancers, Wilms' tumors, gliomas, ependymomas, sarcomas and other tumor types, even though most analyzed cases harbored loss of heterozygosity at 22q11.2 loci.	93	99	7	gliomas	textual	C0017638	Glioma			
1702	10556283	7	In contrast, hSNF5/INI1 point mutations were not detected in breast cancers, Wilms' tumors, gliomas, ependymomas, sarcomas and other tumor types, even though most analyzed cases harbored loss of heterozygosity at 22q11.2 loci.	102	112	11	ependymomas	textual	C0014474	Ependymoma			
1702	10556283	7	In contrast, hSNF5/INI1 point mutations were not detected in breast cancers, Wilms' tumors, gliomas, ependymomas, sarcomas and other tumor types, even though most analyzed cases harbored loss of heterozygosity at 22q11.2 loci.	115	122	8	sarcomas	textual	C1261473	sarcoma			
1702	10556283	7	In contrast, hSNF5/INI1 point mutations were not detected in breast cancers, Wilms' tumors, gliomas, ependymomas, sarcomas and other tumor types, even though most analyzed cases harbored loss of heterozygosity at 22q11.2 loci.	134	138	5	tumor	textual - yields annotated code, however, also yields 1 other	C0027651	Neoplasms			
1703	10556285	1	Spinocerebellar ataxia type-3 or Machado-Joseph disease (SCA3/MJD) is a member of the CAG/polyglutamine repeat disease family.	58	61	4	SCA3	textual - yields annotated code	C0024408	Machado-Joseph Disease			
1703	10556285	1	Spinocerebellar ataxia type-3 or Machado-Joseph disease (SCA3/MJD) is a member of the CAG/polyglutamine repeat disease family.	63	65	3	MJD	textual	C0024408	Machado-Joseph Disease			
1703	10556285	1	Spinocerebellar ataxia type-3 or Machado-Joseph disease (SCA3/MJD) is a member of the CAG/polyglutamine repeat disease family.	1	29	29	Spinocerebellar ataxia type-3	textual - yields annotated code	C0024408	Machado-Joseph Disease			
1703	10556285	1	Spinocerebellar ataxia type-3 or Machado-Joseph disease (SCA3/MJD) is a member of the CAG/polyglutamine repeat disease family.	34	55	22	Machado-Joseph disease	textual	C0024408	Machado-Joseph Disease			
1704	10556285	10	These data suggest that an early event in the pathogenesis of SCA3/MJD may be an altered conformation of ataxin-3 within the nucleus that exposes the polyglutamine domain..	63	66	4	SCA3	intuitive - abstract defined SCA3 as "Spinocerebellar ataxia type-3", a query of SC3 yields annotated code	C0024408	Machado-Joseph Disease			
1704	10556285	10	These data suggest that an early event in the pathogenesis of SCA3/MJD may be an altered conformation of ataxin-3 within the nucleus that exposes the polyglutamine domain..	68	70	3	MJD	intuitive - abstract defined MJD as "Machado-Joseph disease", a query of MJD yields annotated code	C0024408	Machado-Joseph Disease			
1705	10556285	2	In this family of disorders, a normally polymorphic CAG repeat becomes expanded, resulting in expression of an expanded polyglutamine domain in the disease gene product.					No annotation					
1706	10556285	3	Experimental models of polyglutamine disease implicate the nucleus in pathogenesis; however, the link between intranuclear expression of expanded polyglutamine and neuronal dysfunction remains unclear.	165	184	20	neuronal dysfunction	Could not find suitable UMLS code					
1707	10556285	4	Here we demonstrate that ataxin-3, the disease protein in SCA3/MJD, adopts a unique conformation when expressed within the nucleus of transfected cells.	59	62	4	SCA3	intuitive - abstract defined SCA3 as "Spinocerebellar ataxia type-3", a query of SC3 yields annotated code	C0024408	Machado-Joseph Disease			
1707	10556285	4	Here we demonstrate that ataxin-3, the disease protein in SCA3/MJD, adopts a unique conformation when expressed within the nucleus of transfected cells.	64	66	3	MJD	intuitive - abstract defined MJD as "Machado-Joseph disease", a query of MJD yields annotated code	C0024408	Machado-Joseph Disease			
1708	10556285	5	The monoclonal antibody 1C2 is known preferentially to bind expanded polyglutamine, but we find that it also binds a fragment of ataxin-3 containing a normal glutamine repeat.					No annotation					
1709	10556285	6	In addition, expression of ataxin-3 within the nucleus exposes the glutamine domain of the full-length non-pathological protein, allowing it to bind the monoclonal antibody 1C2.					No annotation					
1710	10556285	7	Fractionation and immunochemical experiments indicate that this novel conformation of intranuclear ataxin-3 is not due to proteolysis, suggesting instead that association with nuclear protein(s) alters the structure of full-length ataxin-3 which exposes the polyglutamine domain.					No annotation					
1711	10556285	8	This conformationally altered ataxin-3 is bound to the nuclear matrix.					No annotation					
1712	10556285	9	The pathological form of ataxin-3 with an expanded polyglutamine domain also associates with the nuclear matrix.					No annotation					
1713	10556298	1	Prader-Willi syndrome (PWS) is a complex neurogenetic disorder.	24	26	3	PWS	textual	C0032897	Prader-Willi Syndrome			
1713	10556298	1	Prader-Willi syndrome (PWS) is a complex neurogenetic disorder.	1	21	21	Prader-Willi syndrome	textual	C0032897	Prader-Willi Syndrome			
1713	10556298	1	Prader-Willi syndrome (PWS) is a complex neurogenetic disorder.	42	62	21	neurogenetic disorder	Could not find suitable UMLS code					
1714	10556298	10	The transcripts encode putative proteins that are homologous to the MAGE proteins and NDN.					No annotation					
1715	10556298	11	Moreover, MAGEL2 / Magel2 are expressed only from the paternal allele in brain, suggesting a potential role in the aetiology of PWS and its mouse model, respectively..	129	131	3	PWS	intuitive - abstract defined PWS as "Prader-Willi syndrome", a query of PWS yields annotated code	C0032897	Prader-Willi Syndrome			
1716	10556298	2	The phenotype is likely to be a contiguous gene syndrome involving genes which are paternally expressed only, located in the human 15q11-q13 region.	33	56	24	contiguous gene syndrome	textual	C1855496	Contiguous gene syndrome			
1717	10556298	3	Four mouse models of PWS have been reported but these do not definitively allow the delineation of the critical region and the associated genes involved in the aetiology of PWS.	22	24	3	PWS	intuitive - abstract defined PWS as "Prader-Willi syndrome", a query of PWS yields annotated code	C0032897	Prader-Willi Syndrome			
1717	10556298	3	Four mouse models of PWS have been reported but these do not definitively allow the delineation of the critical region and the associated genes involved in the aetiology of PWS.	174	176	3	PWS	intuitive - abstract defined PWS as "Prader-Willi syndrome", a query of PWS yields annotated code	C0032897	Prader-Willi Syndrome			
1718	10556298	4	Moreover, targeted mutagenesis of mouse homologues of the human candidate PWS genes does not appear to result in any of the features of PWS.	137	139	3	PWS	intuitive - abstract defined PWS as "Prader-Willi syndrome", a query of PWS yields annotated code	C0032897	Prader-Willi Syndrome			
1719	10556298	5	Therefore, the isolation of new genes in this region remains crucial for a better understanding of the molecular basis of PWS.	123	125	3	PWS	intuitive - abstract defined PWS as "Prader-Willi syndrome", a query of PWS yields annotated code	C0032897	Prader-Willi Syndrome			
1720	10556298	6	In this manuscript, we report the characterization of MAGEL2 and its mouse homologue Magel2.					No annotation					
1721	10556298	7	These are located in the human 15q11-q13 and mouse 7C regions, in close proximity to NDN / Ndn.					No annotation					
1722	10556298	8	By northern blot analysis we did not detect any expression of MAGEL2 / Magel2 but by RT-PCR analysis, specific expression was detected in fetal and adult brain and in placenta.					No annotation					
1723	10556298	9	Both genes are intronless with tandem direct repeat sequences contained within a CpG island in the 5'-untranscribed region.					No annotation					
1724	10557309	1	Alveolar rhabdomyosarcoma is an aggressive pediatric cancer of striated muscle characterized in 60% of cases by a t 2;13 q35;q14.	1	25	25	Alveolar rhabdomyosarcoma	textual	C0206655	Rhabdomyosarcoma, Alveolar			
1724	10557309	1	Alveolar rhabdomyosarcoma is an aggressive pediatric cancer of striated muscle characterized in 60% of cases by a t 2;13 q35;q14.	44	59	16	pediatric cancer	textual	C0278704	Malignant Childhood Neoplasm			
1725	10557309	2	This results in the fusion of PAX3, a developmental transcription factor required for limb myogenesis, with FKHR, a member of the forkhead family of transcription factors.					No annotation					
1726	10557309	3	The resultant PAX3-FKHR gene possesses transforming properties; however, the effects of this chimeric oncogene on gene expression are largely unknown.					No annotation					
1727	10557309	4	To investigate the actions of these transcription factors, both Pax3 and PAX3-FKHR were introduced into NIH 3T3 cells, and the resultant gene expression changes were analyzed with a murine cDNA microarray containing 2,225 elements.					No annotation					
1728	10557309	5	We found that PAX3-FKHR but not PAX3 activated a myogenic transcription program including the induction of transcription factors MyoD, Myogenin, Six1, and Slug as well as a battery of genes involved in several aspects of muscle function.					No annotation					
1729	10557309	6	Notable among this group were the growth factor gene Igf2 and its binding protein Igfbp5.					No annotation					
1730	10557309	7	Relevance of this model was suggested by verification that three of these genes (IGFBP5, HSIX1, and Slug) were also expressed in alveolar rhabdomyosarcoma cell lines.	130	154	25	alveolar rhabdomyosarcoma	textual	C0206655	Rhabdomyosarcoma, Alveolar			
1731	10557309	8	This study utilizes cDNA microarrays to elucidate the pattern of gene expression induced by an oncogenic transcription factor and demonstrates the profound myogenic properties of PAX3-FKHR in NIH 3T3 cells..					No annotation					
1732	10557317	2	Indeed, within the well defined, mainly peptide-binding, MHC class I family of molecules, HFE seems to perform an unusual yet essential function.					No annotation					
1733	10557317	3	As yet, our understanding of HFE function in iron homeostasis is only partial; an even more open question is its possible role in the immune system.					No annotation					
1734	10557317	4	To advance on both of these avenues, we report the deletion of HFE alpha1 and alpha2 putative ligand binding domains in vivo.					No annotation 					
1735	10557317	5	HFE-deficient animals were analyzed for a comprehensive set of metabolic and immune parameters.					*					
1736	10557317	6	Faithfully mimicking human hemochromatosis, mice homozygous for this deletion develop iron overload, characterized by a higher plasma iron content and a raised transferrin saturation as well as an elevated hepatic iron load.	28	42	15	hemochromatosis	textual - yields annotated code and 1 other	C0018995	Hemochromatosis			
1736	10557317	6	Faithfully mimicking human hemochromatosis, mice homozygous for this deletion develop iron overload, characterized by a higher plasma iron content and a raised transferrin saturation as well as an elevated hepatic iron load.	87	99	13	iron overload	textual - yields annotated code and 1 other	C0282193	Iron Overload			
1737	10557317	7	The primary defect could, indeed, be traced to an augmented duodenal iron absorption.					No annotation					
1738	10557317	8	In parallel, measurement of the gut mucosal iron content as well as iron regulatory proteins allows a more informed evaluation of various hypotheses regarding the precise role of HFE in iron homeostasis.					No annotation					
1739	10557317	9	Finally, an extensive phenotyping of primary and secondary lymphoid organs including the gut provides no compelling evidence for an obvious immune-linked function for HFE..					No annotation					
1740	1056013	1	Ataxia-telangiectasia is a rare genetic disorder associated with immune deficiency, chromosome instability, and a predisposition to lymphoid malignancy.	1	21	21	Ataxia-telangiectasia	textual	C0004135	Ataxia Telangiectasia			
1740	1056013	1	Ataxia-telangiectasia is a rare genetic disorder associated with immune deficiency, chromosome instability, and a predisposition to lymphoid malignancy.	33	48	16	genetic disorder	textual	C0019247	Hereditary Diseases			
1740	1056013	1	Ataxia-telangiectasia is a rare genetic disorder associated with immune deficiency, chromosome instability, and a predisposition to lymphoid malignancy.	66	82	17	immune deficiency	textual	C0850497	immune deficiency			
1740	1056013	1	Ataxia-telangiectasia is a rare genetic disorder associated with immune deficiency, chromosome instability, and a predisposition to lymphoid malignancy.	133	151	19	lymphoid malignancy	textual	C0746336	Malignant lymphoid neoplasm			
1741	1056013	10	Increasing evidence, provided by others, for the nonrandom involvement of 14q in African-type Burkitt's lymphoma and other lymphoid neoplasms further strengthens this hypothesis..	82	112	31	African-type Burkitt's lymphoma	textual - a query of "African Burkitt's lymphoma" yields annotated code	C0343640	African Burkitt`s lymphoma 			
1741	1056013	10	Increasing evidence, provided by others, for the nonrandom involvement of 14q in African-type Burkitt's lymphoma and other lymphoid neoplasms further strengthens this hypothesis..	124	141	18	lymphoid neoplasms	textual	C0598798	Lymphoid neoplasm			
1742	1056013	2	We have detected chromosomally anomalous clones of lymphocytes in eight patients with this disorder.					No annotation					
1743	1056013	3	Chromosome banding disclosed that the clones are consistently marked by structural rearrangement of the long arm (q) of chromosome 14.					No annotation					
1744	1056013	4	A translocation involving 14q was found in clones obtained from seven of the eight patients whereas a ring 14 chromosome was found in a clone obtained from the other.					No annotation					
1745	1056013	5	These findings as well as data obtained by others for patients with ataxia-telangiectasia suggest that structural rearrangement of 14q is the initial chromosomal change in lymphocyte clones of patients with this disorder.					No annotation					
1746	1056013	6	Chromosomes of lymphocytes from one of the patients were studied before and after the onset of chronic lymphocytic leukemia.	96	123	28	chronic lymphocytic leukemia	textual - yields 2 codes and a possible alternative	C0023434, C0023458	Chronic Lymphocytic Leukemia, Leukemia, Lymphocytic, Chronic	Chronic B-Cell Leukemias [C0023436]		
1747	1056013	7	Before leukemia was diagnosed, the patient had a lymphocyte clone with a 14q translocation.	8	15	8	leukemia	intuitive - abstract uses "leukemia" in reference to "chronic lymphocytic leukemia" a query of this reference yields 2 codes and a possible alternative	C0023434, C0023458	Chronic Lymphocytic Leukemia, Leukemia, Lymphocytic, Chronic	Chronic B-Cell Leukemias [C0023436]		
1748	1056013	8	This clone appears to have given rise to the leukemic cells.					*					
1749	1056013	9	We hypothesize that structural rearrangement of 14q is directly related to abnormal growth of lymphocytes and that it may be a step toward the development of lymphoid malignancies.	76	105	30	abnormal growth of lymphocytes	Could not find suitable UMLS code					
1749	1056013	9	We hypothesize that structural rearrangement of 14q is directly related to abnormal growth of lymphocytes and that it may be a step toward the development of lymphoid malignancies.	159	179	21	lymphoid malignancies	textual	C0746336	Malignant lymphoid neoplasm			
1750	10571943	1	We report new mutations in exon 9 of the WT1 gene that did not alter the ratio of +/- KTS splice isoforms in two unrelated patients with Frasier syndrome FS.	155	156	2	FS	textual - does not yield annotated code	C0950122	Frasier Syndrome			
1750	10571943	1	We report new mutations in exon 9 of the WT1 gene that did not alter the ratio of +/- KTS splice isoforms in two unrelated patients with Frasier syndrome FS.	138	153	16	Frasier syndrome	textual	C0950122	Frasier Syndrome			
1751	10571943	2	The mutation of intron 9 inducing defective alternative splicing was reported to be responsible for this syndrome.					No annotation					
1752	10571943	4	The results suggest that the two syndromes originate from the same WT1 gene abnormality.					No annotation					
1753	10571950	1	Pendred syndrome is a recessive inherited disorder that consists of developmental abnormalities of the cochlea, sensorineural hearing loss, and diffuse thyroid enlargement goiter.	1	16	16	Pendred syndrome		C0271829	Pendred`s syndrome			
1753	10571950	1	Pendred syndrome is a recessive inherited disorder that consists of developmental abnormalities of the cochlea, sensorineural hearing loss, and diffuse thyroid enlargement goiter.	23	50	28	recessive inherited disorder	Intuitive - No UMLS code for "inherited disorder", however there is a UMLS code for "inherited disease", which yielded the annotated code	C0265388	Autosomal recessive hereditary disorder			
1753	10571950	1	Pendred syndrome is a recessive inherited disorder that consists of developmental abnormalities of the cochlea, sensorineural hearing loss, and diffuse thyroid enlargement goiter.	69	110	42	developmental abnormalities of the cochlea	Could not find suitable UMLS code					
1753	10571950	1	Pendred syndrome is a recessive inherited disorder that consists of developmental abnormalities of the cochlea, sensorineural hearing loss, and diffuse thyroid enlargement goiter.	113	138	26	sensorineural hearing loss	textual	C0018784	Sensorineural Hearing Loss			
1753	10571950	1	Pendred syndrome is a recessive inherited disorder that consists of developmental abnormalities of the cochlea, sensorineural hearing loss, and diffuse thyroid enlargement goiter.	145	171	27	diffuse thyroid enlargement	textual	C0749432	THYROID ENLARGEMENT DIFFUSE			
1753	10571950	1	Pendred syndrome is a recessive inherited disorder that consists of developmental abnormalities of the cochlea, sensorineural hearing loss, and diffuse thyroid enlargement goiter.	173	178	6	goiter	textual	C0018021	Goiter			
1754	10571950	2	This disorder may account for up to 10% of cases of hereditary deafness.	53	71	19	hereditary deafness	textual	C0339789	Congenital deafness			
1755	10571950	3	The disease gene (PDS) has been mapped to chromosome 7q22-q31, and encodes a chloride-iodide transport protein.					No annotation					
1756	10571950	4	We performed mutation analysis of individual exons of the PDS gene in one Spanish family that shows intrafamilial variability of the deafness phenotype two patients with profound and one with moderate-severe deafness.	134	141	8	deafness	textual - yields both annotated codes	C0581883	Complete Hearing Loss, Deafness			
1756	10571950	4	We performed mutation analysis of individual exons of the PDS gene in one Spanish family that shows intrafamilial variability of the deafness phenotype two patients with profound and one with moderate-severe deafness.	209	216	8	deafness	textual - yields both annotated codes	C0581883	Complete Hearing Loss, Deafness			
1757	10571950	5	We identified a new splice-site mutation affecting intron 4 of the PDS gene, at nucleotide position 639+7.					No annotation					
1758	10571950	6	RNA analysis from lymphocytes of the affected patients showed that mutation 639+7A-->G generates a new donor splice site, leading to an mRNA with an insertion of six nucleotides from intron 4 of PDS.					No annotation					
1759	10571950	7	Since the newly created donor splice site is likely to compete with the normal one, variations of the levels of normal and aberrant transcripts of the PDS gene in the cochlea may explain the variability in the deafness presentation..	211	218	8	deafness	textual - yields both annotated codes	C0581883	Complete Hearing Loss, Deafness			
1760	10577908	10	Our results demonstrate that SLS is caused by a strikingly heterogeneous group of mutations in the FALDH gene and provide a framework for understanding the genetic basis of SLS and the development of DNA-based diagnostic tests..	30	32	3	SLS	intuitive - abstract defines SLS as "Sjgren-Larsson syndrome", a query of SLS yields the annotated code, however, it also yields 4 others	C0037231	Sjogren-Larsson Syndrome			
1760	10577908	10	Our results demonstrate that SLS is caused by a strikingly heterogeneous group of mutations in the FALDH gene and provide a framework for understanding the genetic basis of SLS and the development of DNA-based diagnostic tests..	174	176	3	SLS	intuitive - abstract defines SLS as "Sjgren-Larsson syndrome", a query of SLS yields the annotated code, however, it also yields 4 others	C0037231	Sjogren-Larsson Syndrome			
1761	10577908	2	To define the molecular defects causing SLS, we performed mutation analysis of the FALDH gene in probands from 63 kindreds with SLS.	41	43	3	SLS	intuitive - abstract defines SLS as "Sjgren-Larsson syndrome", a query of SLS yields the annotated code, however, it also yields 4 others	C0037231	Sjogren-Larsson Syndrome			
1761	10577908	2	To define the molecular defects causing SLS, we performed mutation analysis of the FALDH gene in probands from 63 kindreds with SLS.	129	131	3	SLS	intuitive - abstract defines SLS as "Sjgren-Larsson syndrome", a query of SLS yields the annotated code, however, it also yields 4 others	C0037231	Sjogren-Larsson Syndrome			
1762	10577908	3	Among these patients, 49 different mutations-including 10 deletions, 2 insertions, 22 amino acid substitutions, 3 nonsense mutations, 9 splice-site defects, and 3 complex mutations-were found.					No annotation					
1763	10577908	4	All of the patients with SLS were found to carry mutations.	26	28	3	SLS	intuitive - abstract defines SLS as "Sjgren-Larsson syndrome", a query of SLS yields the annotated code, however, it also yields 4 others	C0037231	Sjogren-Larsson Syndrome			
1764	10577908	5	Nineteen of the missense mutations resulted in a severe reduction of FALDH enzyme catalytic activity when expressed in mammalian cells, but one mutation 798G-->C K266N seemed to have a greater effect on mRNA stability.					No annotation					
1765	10577908	6	The splice-site mutations led to exon skipping or utilization of cryptic acceptor-splice sites.					No annotation					
1766	10577908	7	Thirty-seven mutations were private, and 12 mutations were seen in two or more probands of European or Middle Eastern descent.					No annotation					
1767	10577908	8	Four single-nucleotide polymorphisms (SNPs) were found in the FALDH gene.					No annotation					
1769	10581027	1	Papillon-Lefevre syndrome, or keratosis palmoplantaris with periodontopathia (PLS, MIM 245000), is an autosomal recessive disorder that is mainly ascertained by dentists because of the severe periodontitis that afflicts patients.	79	81	3	PLS	textual - yields annotated code, however, it also yields 6 others	C0030360	Papillon-Lefevre Disease			
1769	10581027	1	Papillon-Lefevre syndrome, or keratosis palmoplantaris with periodontopathia (PLS, MIM 245000), is an autosomal recessive disorder that is mainly ascertained by dentists because of the severe periodontitis that afflicts patients.	1	25	25	Papillon-Lefevre syndrome	textual	C0030360	Papillon-Lefevre Disease			
1769	10581027	1	Papillon-Lefevre syndrome, or keratosis palmoplantaris with periodontopathia (PLS, MIM 245000), is an autosomal recessive disorder that is mainly ascertained by dentists because of the severe periodontitis that afflicts patients.	31	76	46	keratosis palmoplantaris with periodontopathia	textual - yields annotated code	C0030360	Papillon-Lefevre Disease			
1769	10581027	1	Papillon-Lefevre syndrome, or keratosis palmoplantaris with periodontopathia (PLS, MIM 245000), is an autosomal recessive disorder that is mainly ascertained by dentists because of the severe periodontitis that afflicts patients.	193	205	13	periodontitis	textual	C0031099	Periodontitis			
1770	10581027	10	We defined the genomic structure of CTSC and found mutations in all eight families.					No annotation					
1771	10581027	11	In two of these families we used a functional assay to demonstrate an almost total loss of cathepsin C activity in PLS patients and reduced activity in obligate carriers..	116	118	3	PLS	intuitive - abstract defines PLS as "Papillon-Lefevre syndrome" a query of PLS yields annotated code, however, it also yields 6 others	C0030360	Papillon-Lefevre Disease			
1772	10581027	2	Both the deciduous and permanent dentitions are affected, resulting in premature tooth loss.	72	91	20	premature tooth loss	textual	C0232513	Premature tooth loss			
1773	10581027	3	Palmoplantar keratosis, varying from mild psoriasiform scaly skin to overt hyperkeratosis, typically develops within the first three years of life.	1	22	22	Palmoplantar keratosis	textual	C0022596	Palmoplantar Keratosis			
1773	10581027	3	Palmoplantar keratosis, varying from mild psoriasiform scaly skin to overt hyperkeratosis, typically develops within the first three years of life.	43	54	12	psoriasiform	Could not find sutiable UMLS code					
1773	10581027	3	Palmoplantar keratosis, varying from mild psoriasiform scaly skin to overt hyperkeratosis, typically develops within the first three years of life.	76	89	14	hyperkeratosis	textual	C0870082	Hyperkeratosis			
1774	10581027	4	Keratosis also affects other sites such as elbows and knees.	1	9	9	Keratosis	textual - yields annotated code and 2 others	C0022593	Keratosis			
1775	10581027	5	Most PLS patients display both periodontitis and hyperkeratosis.	6	8	3	PLS	intuitive - abstract defines PLS as "Papillon-Lefevre syndrome" a query of PLS yields annotated code, however, it also yields 6 others	C0030360	Papillon-Lefevre Disease			
1775	10581027	5	Most PLS patients display both periodontitis and hyperkeratosis.	32	44	13	periodontitis	textual	C0031099	Periodontitis			
1775	10581027	5	Most PLS patients display both periodontitis and hyperkeratosis.	50	63	14	hyperkeratosis	textual	C0870082	Hyperkeratosis			
1776	10581027	6	Some patients have only palmoplantar keratosis or periodontitis, and in rare individuals the periodontitis is mild and of late onset.	25	46	22	palmoplantar keratosis	textual	C0022596	Palmoplantar Keratosis			
1776	10581027	6	Some patients have only palmoplantar keratosis or periodontitis, and in rare individuals the periodontitis is mild and of late onset.	51	63	13	periodontitis	textual	C0031099	Periodontitis			
1776	10581027	6	Some patients have only palmoplantar keratosis or periodontitis, and in rare individuals the periodontitis is mild and of late onset.	94	106	13	periodontitis	textual	C0031099	Periodontitis			
1778	10581027	8	Using homozygosity mapping in eight small consanguineous families, we have narrowed the candidate region to a 1.2-cM interval between D11S4082 and D11S931.					No annotation					
1779	10581027	9	The gene (CTSC) encoding the lysosomal protease cathepsin C (or dipeptidyl aminopeptidase I) lies within this interval.					No annotation					
1780	10589394	1	Van der Woude syndrome (VWS) is an autosomal dominant craniofacial disorder with high penetrance and variable expression.	25	27	3	VWS	textual - yields annotated code	C0175697	Van der Woude syndrome			
1780	10589394	1	Van der Woude syndrome (VWS) is an autosomal dominant craniofacial disorder with high penetrance and variable expression.	1	22	22	Van der Woude syndrome	textual - yields annotated code and 1 other	C0175697	Van der Woude syndrome			
1780	10589394	1	Van der Woude syndrome (VWS) is an autosomal dominant craniofacial disorder with high penetrance and variable expression.	55	75	21	craniofacial disorder	Could not find sutiable UMLS code					
1782	10589394	11	We observed a striking pattern of STR allele sharing at several closely linked loci among our four Caucasian VWS families recruited at three different locations in the US.	110	112	3	VWS	intuitive - abstract defined VWS as "Van der Woude syndrome" a query of VWS yields annotated code	C0175697	Van der Woude syndrome			
1783	10589394	12	These results suggest the possibility of a unique origin for a mutation responsible for many or most cases of VWS..	111	113	3	VWS	intuitive - abstract defined VWS as "Van der Woude syndrome" a query of VWS yields annotated code	C0175697	Van der Woude syndrome			
1784	10589394	2	Its clinical features are variably expressed, but include cleft lip and/or cleft palate, lip pits and hypodontia.	59	87	29	cleft lip and/or cleft palate	textual - a query of "cleft lip and cleft palate" yields annotated code	C0158646	Cleft palate with cleft lip			
1784	10589394	2	Its clinical features are variably expressed, but include cleft lip and/or cleft palate, lip pits and hypodontia.	59	67	9	cleft lip	textual	C0008924	Cleft Lip			
1784	10589394	2	Its clinical features are variably expressed, but include cleft lip and/or cleft palate, lip pits and hypodontia.	76	87	12	cleft palate	textual	C0008925	Cleft Palate			
1784	10589394	2	Its clinical features are variably expressed, but include cleft lip and/or cleft palate, lip pits and hypodontia.	90	97	8	lip pits	textual	C0341059	Lip pits			
1784	10589394	2	Its clinical features are variably expressed, but include cleft lip and/or cleft palate, lip pits and hypodontia.	103	112	10	hypodontia	textual	C0020608	Hypodontia			
1785	10589394	3	All VWS families studied to date map the disease gene to a < 2 cM region of chromosome 1q32, with no evidence of locus heterogeneity.	5	7	3	VWS	intuitive - abstract defined VWS as "Van der Woude syndrome" a query of VWS yields annotated code	C0175697	Van der Woude syndrome			
1787	10589394	5	We analyzed four multiplex VWS families.	28	30	3	VWS	intuitive - abstract defined VWS as "Van der Woude syndrome" a query of VWS yields annotated code	C0175697	Van der Woude syndrome			
1789	10589394	7	We performed two-point and multipoint limit of detection (LOD) score analyses using a high penetrance autosomal dominant model.					No annotation					
1790	10589394	8	All families showed positive LOD scores without any recombination in the candidate region.					No annotation					
1791	10589394	9	The largest two-point LOD score was 5.87.					No annotation					
1792	10590055	1	A new platelet-specific alloantigen, termed Sit(a), was identified in a severe case of neonatal alloimmune thrombocytopenia.	88	123	36	neonatal alloimmune thrombocytopenia	textual	C0473780	Neonatal alloimmune thrombocytopenia			
1793	10590055	10	In contrast, anti-Br(a) (HPA-5b) only recognized the Lys 505 Thr(799) form, whereas anti-Br(b) (HPA-5a) reacted with both Glu 505 Thr(799) and Glu 505 Met(799) isoforms.					No annotation					
1794	10590055	11	These results demonstrated that the Met(799) is responsible for formation of the Sit(a) alloantigenic determinants, whereas amino acid 505 (Lys or Glu) specifically controls the expression of Br(a) and Br(b) epitopes, respectively.					No annotation					
1795	10590055	12	Platelet aggregation responses of Sit(a) (+) individuals were diminished in response to collagen, indicating that the Thr(799)Met mutation affects the function of the GPIa/IIa complex..					No annotation					
1796	10590055	2	The Sit(a) alloantigen is of low frequency (1/400) in the German population.					No annotation					
1797	10590055	3	Immunochemical studies demonstrated that the Sit(a) epitopes reside on platelet glycoprotein (GP) Ia.					No annotation					
1798	10590055	4	Nucleotide sequence analysis of GPIa cDNA derived from Sit(a)-positive platelets showed C 2531 -->T(2531) point mutation, resulting in Thr(799)Met dimorphism.					No annotation					
1799	10590055	5	Analysis of genomic DNA from 22 Sit(a)-negative normal individuals showed that the Thr(799) is encoded by ACG(2532) (90.9%) or ACA(2532) 9.1%.					No annotation					
1800	10590055	6	To establish a DNA typing technique, we elucidated the organization of the GPIa gene adjacent to the polymorphic bases.					No annotation					
1801	10590055	7	The introns (421 bp and 1.2 kb) encompass a 142-bp exon with the 2 polymorphic bases 2531 and 2532.					No annotation					
1802	10590055	8	Polymerase chain reaction-restriction fragment length polymorphism analysis on DNA derived from 100 donors using the restriction enzyme Mae III showed that the Met(799) form of GPIa is restricted to Sit(a) (+) phenotype.					No annotation					
1803	10590055	9	Analysis of stable Chinese hamster ovary transfectants expressing allele-specific recombinant forms of GPIa showed that anti-Sit(a) exclusively reacted with the Glu 505 Met(799), but not with the Glu 505 Thr(799) and the Lys 505 Thr(799) isoforms.					No annotation					
1804	10593994	1	Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder characterised by palmoplantar hyperkeratosis and severe early onset periodontitis that results in the premature loss of the primary and secondary dentitions.	28	30	3	PLS	textual - yields annotated code, however, it also yields 6 others	C0030360	Papillon-Lefevre Disease			
1804	10593994	1	Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder characterised by palmoplantar hyperkeratosis and severe early onset periodontitis that results in the premature loss of the primary and secondary dentitions.	1	25	25	Papillon-Lefevre syndrome	textual	C0030360	Papillon-Lefevre Disease			
1804	10593994	1	Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder characterised by palmoplantar hyperkeratosis and severe early onset periodontitis that results in the premature loss of the primary and secondary dentitions.	85	111	27	palmoplantar hyperkeratosis	textual	C1857046	Palmoplantar hyperkeratosis			
1804	10593994	1	Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder characterised by palmoplantar hyperkeratosis and severe early onset periodontitis that results in the premature loss of the primary and secondary dentitions.	136	148	13	periodontitis	textual	C0031099	Periodontitis			
1804	10593994	1	Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder characterised by palmoplantar hyperkeratosis and severe early onset periodontitis that results in the premature loss of the primary and secondary dentitions.	170	223	54	premature loss of the primary and secondary dentitions	intuitive	C0232513	Premature tooth loss			
1805	10593994	10	All PLS patients were homozygous for cathepsin C mutations inherited from a common ancestor.	5	7	3	PLS	intuitive - abstract defines PLS as "Papillon-Lefevre syndrome" a query of PLS yields annotated code, however, it also yields 6 others	C0030360	Papillon-Lefevre Disease			
1806	10593994	11	Parents and sibs heterozygous for cathepsin C mutations do not show either the palmoplantar hyperkeratosis or severe early onset periodontitis characteristic of PLS.	162	164	3	PLS	intuitive - abstract defines PLS as "Papillon-Lefevre syndrome" a query of PLS yields annotated code, however, it also yields 6 others	C0030360	Papillon-Lefevre Disease			
1806	10593994	11	Parents and sibs heterozygous for cathepsin C mutations do not show either the palmoplantar hyperkeratosis or severe early onset periodontitis characteristic of PLS.	80	106	27	palmoplantar hyperkeratosis	textual	C1857046	Palmoplantar hyperkeratosis			
1806	10593994	11	Parents and sibs heterozygous for cathepsin C mutations do not show either the palmoplantar hyperkeratosis or severe early onset periodontitis characteristic of PLS.	130	142	13	periodontitis	textual	C0031099	Periodontitis			
1807	10593994	12	A more complete understanding of the functional physiology of cathepsin C carries significant implications for understanding normal and abnormal skin development and periodontal disease susceptibility..	137	161	25	abnormal skin development	Could not find sutiable UMLS code					
1807	10593994	12	A more complete understanding of the functional physiology of cathepsin C carries significant implications for understanding normal and abnormal skin development and periodontal disease susceptibility..	167	185	19	periodontal disease	textual	C0031090	Periodontal Diseases			
1808	10593994	2	A major gene locus for PLS has been mapped to a 2.8 cM interval on chromosome 11q14.	24	26	3	PLS	intuitive - abstract defines PLS as "Papillon-Lefevre syndrome" a query of PLS yields annotated code, however, it also yields 6 others	C0030360	Papillon-Lefevre Disease			
1809	10593994	3	Correlation of physical and genetic maps of this interval indicate it includes at least 40 ESTs and six known genes including the lysosomal protease cathepsin C gene CTSC.					No annotation					
1810	10593994	4	The CTSC message is expressed at high levels in a variety of immune cells including polymorphonuclear leucocytes, macrophages, and their precursors.					No annotation					
1811	10593994	5	By RT-PCR, we found CTSC is also expressed in epithelial regions commonly affected by PLS, including the palms, soles, knees, and oral keratinised gingiva.	87	89	3	PLS	intuitive - abstract defines PLS as "Papillon-Lefevre syndrome" a query of PLS yields annotated code, however, it also yields 6 others	C0030360	Papillon-Lefevre Disease			
1812	10593994	6	The 4.7 kb CTSC gene consists of two exons.					No annotation					
1813	10593994	7	Sequence analysis of CTSC from subjects affected with PLS from five consanguineous Turkish families identified four different mutations.	55	57	3	PLS	intuitive - abstract defines PLS as "Papillon-Lefevre syndrome" a query of PLS yields annotated code, however, it also yields 6 others	C0030360	Papillon-Lefevre Disease			
1814	10593994	8	An exon 1 nonsense mutation (856C-->T) introduces a premature stop codon at amino acid 286.					No annotation					
1815	10593994	9	Three exon 2 mutations were identified, including a single nucleotide deletion (2692delA) of codon 349 introducing a frameshift and premature termination codon, a 2 bp deletion (2673-2674delCT) that results in introduction of a stop codon at amino acid 343, and a G-->A substitution in codon 429 (2931G-->A) introducing a premature termination codon.					No annotation 					
1816	10594001	1	Alkaptonuria (AKU), the prototypic inborn error of metabolism, has recently been shown to be caused by loss of function mutations in the homogentisate-1,2-dioxygenase gene HGO.	15	17	3	AKU	textual - yields annotated code	C0002066	Alkaptonuria			
1816	10594001	1	Alkaptonuria (AKU), the prototypic inborn error of metabolism, has recently been shown to be caused by loss of function mutations in the homogentisate-1,2-dioxygenase gene HGO.	1	12	12	Alkaptonuria	textual	C0002066	Alkaptonuria			
1816	10594001	1	Alkaptonuria (AKU), the prototypic inborn error of metabolism, has recently been shown to be caused by loss of function mutations in the homogentisate-1,2-dioxygenase gene HGO.	36	61	26	inborn error of metabolism	textual	C0025521	Inborn Errors of Metabolism			
1817	10594001	2	So far 17 mutations have been characterised in AKU patients of different ethnic origin.	48	50	3	AKU	intuitive - abstract defines AKU as "Alkaptonuria" a query of AKU yields annotated code	C0002066	Alkaptonuria			
1818	10594001	3	We describe three novel mutations (R58fs, R330S, and H371R) and one common AKU mutation (M368V), detected by mutational and polymorphism analysis of the HGO gene in five Finnish AKU pedigrees.	76	78	3	AKU	intuitive - abstract defines AKU as "Alkaptonuria" a query of AKU yields annotated code	C0002066	Alkaptonuria			
1818	10594001	3	We describe three novel mutations (R58fs, R330S, and H371R) and one common AKU mutation (M368V), detected by mutational and polymorphism analysis of the HGO gene in five Finnish AKU pedigrees.	179	181	3	AKU	intuitive - abstract defines AKU as "Alkaptonuria" a query of AKU yields annotated code	C0002066	Alkaptonuria			
1819	10594001	4	The three novel AKU mutations are most likely specific for the Finnish population and have originated recently..	17	19	3	AKU	intuitive - abstract defines AKU as "Alkaptonuria" a query of AKU yields annotated code	C0002066	Alkaptonuria			
1820	10598803	3	Many individuals with AAPC develop relatively few colorectal polyps but are still at high risk for colorectal cancer.	23	26	4	AAPC	textual	C1868019	ADENOMATOUS POLYPOSIS COLI, ATTENUATED			
1820	10598803	3	Many individuals with AAPC develop relatively few colorectal polyps but are still at high risk for colorectal cancer.	51	67	17	colorectal polyps	textual	C0949059	Polyp of large intestine			
1820	10598803	3	Many individuals with AAPC develop relatively few colorectal polyps but are still at high risk for colorectal cancer.	100	116	17	colorectal cancer	textual - yields both annotated codes	C0009402, C1527249	Carcinoma of the Large Intestine, Colorectal Cancer			
1821	10598803	4	We report here the identification of a 5' APC germline mutation in five separately ascertained AAPC families from Newfoundland, Canada.	96	99	4	AAPC	textual	C1868019	ADENOMATOUS POLYPOSIS COLI, ATTENUATED			
1822	10598803	5	This disease-causing mutation is a single basepair change (G to A) in the splice-acceptor region of APC intron 3 that creates a mutant RNA without exon 4 of APC.					No annotation					
1823	10598803	6	The observation of the same APC mutation in five families from the same geographic area demonstrates a founder effect.					No annotation					
1824	10598803	7	Furthermore, the identification of this germline mutation strengthens the correlation between the 5' location of an APC disease-causing mutation and the attenuated polyposis phenotype..	154	183	30	attenuated polyposis phenotype	*					
1825	10598815	1	Alstrom syndrome is a rare autosomal recessive disorder characterized by retinal degeneration, sensorineural hearing loss, early-onset obesity, and non-insulin-dependent diabetes mellitus.	1	16	16	Alstrom syndrome	textual	C0268425	Alstrom syndrome			
1825	10598815	1	Alstrom syndrome is a rare autosomal recessive disorder characterized by retinal degeneration, sensorineural hearing loss, early-onset obesity, and non-insulin-dependent diabetes mellitus.	74	93	20	retinal degeneration	textual	C0035304	Retinal Degeneration			
1825	10598815	1	Alstrom syndrome is a rare autosomal recessive disorder characterized by retinal degeneration, sensorineural hearing loss, early-onset obesity, and non-insulin-dependent diabetes mellitus.	96	121	26	sensorineural hearing loss	textual	C0018784	Sensorineural Hearing Loss			
1825	10598815	1	Alstrom syndrome is a rare autosomal recessive disorder characterized by retinal degeneration, sensorineural hearing loss, early-onset obesity, and non-insulin-dependent diabetes mellitus.	124	142	19	early-onset obesity	textual	C1833056	Obesity, early-onset			
1825	10598815	1	Alstrom syndrome is a rare autosomal recessive disorder characterized by retinal degeneration, sensorineural hearing loss, early-onset obesity, and non-insulin-dependent diabetes mellitus.	149	187	39	non-insulin-dependent diabetes mellitus	textual	C0011860	Diabetes Mellitus, Non-Insulin-Dependent			
1826	10598815	2	The gene for Alstrom syndrome (ALMS1) has been previously localized to human chromosome 2p13 by homozygosity mapping in two distinct isolated populations - French Acadian and North African.	14	29	16	Alstrom syndrome	textual	C0268425	Alstrom syndrome			
1827	10598815	3	Pair-wise analyses resulted in maximum lod (logarithm of the odds ratio) scores of 3.84 and 2.9, respectively.					No annotation					
1828	10598815	4	To confirm these findings, a large linkage study was performed in twelve additional families segregating for Alstrom syndrome.	110	125	16	Alstrom syndrome	textual	C0268425	Alstrom syndrome			
1829	10598815	5	A maximum two-point lod score of 7.13 (theta = 0.00) for marker D2S2110 and a maximum cumulative multipoint lod score of 9.16 for marker D2S2110 were observed, further supporting linkage to chromosome 2p13.					No annotation					
1830	10598815	6	No evidence of genetic heterogeneity was observed in these families.					No annotation					
1831	10598815	7	Meiotic recombination events have localized the critical region containing ALMS1 to a 6.1-cM interval flanked by markers D2S327 and D2S286.					No annotation					
1832	10598815	8	A fine resolution radiation hybrid map of 31 genes and markers has been constructed..					No annotation					
1833	10602116	1	Pendred syndrome comprises congenital sensorineural hearing loss, thyroid goiter, and positive perchlorate discharge test.	1	16	16	Pendred syndrome	textual	C0271829	Pendred`s syndrome			
1833	10602116	1	Pendred syndrome comprises congenital sensorineural hearing loss, thyroid goiter, and positive perchlorate discharge test.	39	64	26	sensorineural hearing loss	textual	C0018784	Sensorineural Hearing Loss			
1833	10602116	1	Pendred syndrome comprises congenital sensorineural hearing loss, thyroid goiter, and positive perchlorate discharge test.	67	80	14	thyroid goiter	textual	C0018021	Goiter			
1834	10602116	2	Recently, this autosomal recessive disorder was shown to be caused by mutations in the PDS gene, which encodes an anion transporter called pendrin.					No annotation					
1835	10602116	3	Molecular analysis of the PDS gene was performed in two consanguineous large families from Southern Tunisia comprising a total of 23 individuals affected with profound congenital deafness; the same missense mutation, L445W, was identified in all affected individuals.	169	187	19	congenital deafness	textual	C0339789	Congenital deafness			
1836	10602116	4	A widened vestibular aqueduct was found in all patients who underwent computed tomography (CT) scan exploration of the inner ear.					No annotation					
1837	10602116	5	In contrast, goiter was present in only 11 affected individuals, who interestingly had a normal result of the perchlorate discharge test whenever performed.	14	19	6	goiter	textual	C0018021	Goiter			
1838	10607954	1	We report on a 4-year-old boy with Knobloch syndrome.	36	52	17	Knobloch syndrome	textual - yields annotated code and 1 other	C1849409	KNOBLOCH SYNDROME			
1839	10607954	2	He has vitreoretinal degeneration, high myopia, cataract, telecanthus, hypertelorism, and a high-arched palate.	8	33	26	vitreoretinal degeneration	textual	C0344290	Vitreoretinal degeneration			
1839	10607954	2	He has vitreoretinal degeneration, high myopia, cataract, telecanthus, hypertelorism, and a high-arched palate.	36	46	11	high myopia	textual	C0271183	Severe myopia			
1839	10607954	2	He has vitreoretinal degeneration, high myopia, cataract, telecanthus, hypertelorism, and a high-arched palate.	49	56	8	cataract	textual - yields annotated code and 1 other	C0086543	Cataract			
1839	10607954	2	He has vitreoretinal degeneration, high myopia, cataract, telecanthus, hypertelorism, and a high-arched palate.	59	69	11	telecanthus	textual	C0423113	Telecanthus			
1839	10607954	2	He has vitreoretinal degeneration, high myopia, cataract, telecanthus, hypertelorism, and a high-arched palate.	72	84	13	hypertelorism	textual	C0020534	Orbital separation excessive			
1839	10607954	2	He has vitreoretinal degeneration, high myopia, cataract, telecanthus, hypertelorism, and a high-arched palate.	93	110	18	high-arched palate	textual	C0240635	Byzanthine arch palate			
1840	10607954	3	He also has a defect of the anterior midline scalp with involvement of the frontal bone as documented by a computed tomography (CT) scan.	15	50	36	defect of the anterior midline scalp	Could not find suitable UMLS code					
1841	10607954	4	The brain was normal on CT scan and magnetic resonance imaging.					No annotation					
1842	10607954	5	We present a review of the 23 published cases with this syndrome.					No annotation					
1843	10607954	6	Our patient illustrates the importance of investigating for underlying ocular and central nervous system pathology whenever midline scalp defects are present..	125	145	21	midline scalp defects	Could not find suitable UMLS code					
1844	10612394	2	The cellular features resulting from these hMRE11 mutations are similar to those seen in A-T as well as NBS and include hypersensitivity to ionizing radiation, radioresistant DNA synthesis, and abrogation of ATM-dependent events, such as the activation of Jun kinase following exposure to gamma irradiation.					No annotation					
1845	10612394	3	Although the mutant hMre11 proteins retain some ability to interact with hRad50 and Nbs1, formation of ionizing radiation-induced hMre11 and Nbs1 foci was absent in hMRE11 mutant cells.					No annotation					
1846	10612394	4	These data demonstrate that ATM and the hMre11/hRad50/Nbs1 protein complex act in the same DNA damage response pathway and link hMre11 to the complex pathology of A-T..					No annotation					
1847	10615125	1	Familial expansile osteolysis (FEO, MIM 174810) is a rare, autosomal dominant bone disorder characterized by focal areas of increased bone remodelling.	32	34	3	FEO	intuitive - abstract defines FEO as "familial expansile osteolysis" a query of FEO yields annotated code and 1 other	C0432292	Familial expansile osteolysis			
1847	10615125	1	Familial expansile osteolysis (FEO, MIM 174810) is a rare, autosomal dominant bone disorder characterized by focal areas of increased bone remodelling.	1	29	29	Familial expansile osteolysis	textual	C0432292	Familial expansile osteolysis			
1847	10615125	1	Familial expansile osteolysis (FEO, MIM 174810) is a rare, autosomal dominant bone disorder characterized by focal areas of increased bone remodelling.	79	91	13	bone disorder	textual	C0005940	Bone Diseases			
1847	10615125	1	Familial expansile osteolysis (FEO, MIM 174810) is a rare, autosomal dominant bone disorder characterized by focal areas of increased bone remodelling.	125	150	26	increased bone remodelling	Could not find suitable UMLS code					
1848	10615125	2	The osteolytic lesions, which develop usually in the long bones during early adulthood, show increased osteoblast and osteoclast activity.	5	22	18	osteolytic lesions	textual	C0302313	Osteolytic lesion			
1849	10615125	3	Our previous linkage studies mapped the gene responsible for FEO to an interval of less than 5 cM between D18S64 and D18S51 on chromosome 18q21.2-21.3 in a large Northern Irish family.	62	64	3	FEO	intuitive - abstract defines FEO as "familial expansile osteolysis" a query of FEO yields annotated code and 1 other	C0432292	Familial expansile osteolysis			
1850	10615125	4	The gene encoding receptor activator of nuclear factor-kappa B (RANK; ref. 5), TNFRSF11A, maps to this region.					No annotation					
1851	10615125	5	RANK is essential in osteoclast formation.					No annotation					
1852	10615125	6	We identified two heterozygous insertion mutations in exon 1 of TNFRSF11A in affected members of four families with FEO or familial Paget disease of bone PDB.	117	119	3	FEO	intuitive - abstract defines FEO as "familial expansile osteolysis" a query of FEO yields annotated code and 1 other					
1852	10615125	6	We identified two heterozygous insertion mutations in exon 1 of TNFRSF11A in affected members of four families with FEO or familial Paget disease of bone PDB.	155	157	3	PDB	textual - yields annotated code and 2 others	 C0029401	Osteitis Deformans			
1852	10615125	6	We identified two heterozygous insertion mutations in exon 1 of TNFRSF11A in affected members of four families with FEO or familial Paget disease of bone PDB.	133	153	21	Paget disease of bone	textual - yields annotated code	C0029401	Osteitis Deformans			
1853	10615125	7	One was a duplication of 18 bases and the other a duplication of 27 bases, both of which affected the signal peptide region of the RANK molecule.					No annotation					
1854	10615125	8	Expression of recombinant forms of the mutant RANK proteins revealed perturbations in expression levels and lack of normal cleavage of the signal peptide.					No annotation					
1855	10615125	9	Both mutations caused an increase in RANK-mediated nuclear factor-kappaB (NF-kappaB) signalling in vitro, consistent with the presence of an activating mutation..					No annotation					
1856	10618304	2	An auxiliary beta(1)-subunit, widely expressed in excitable tissues, shifts the voltage dependence of steady-state inactivation toward more negative potentials and restores normal gating kinetics of brain and skeletal muscle Na(+) channels expressed in Xenopus oocytes but has little if any functional effect on the cardiac isoform.					No annotation					
1857	10618304	3	Here, we characterize the altered effects of a human beta(1)-subunit hbeta 1 on the heterologously expressed hH1 mutation (T1620M) previously associated with IVF.	159	161	3	IVF	intuitive - abstract defined IVF as "idiopathic ventricular fibrillation" a query of IVF does not yield annotated code	C0340493	Paroxysmal familial ventricular fibrillation			
1858	10618304	4	METHODS AND RESULTS: When expressed alone in Xenopus oocytes, T1620M exhibited no persistent currents, in contrast to the LQT3 mutant channels, but the midpoint of steady-state inactivation V 1/2 was significantly shifted toward more positive potentials than for wild-type hH1.					No annotation					
1859	10618304	5	Coexpression of hbeta(1) did not significantly alter current decay or recovery from inactivation of wild-type hH1; however, it further shifted the V(1/2) and accelerated the recovery from inactivation of T1620M.					No annotation					
1860	10618304	6	Oocyte macropatch analysis revealed that the activation kinetics of T1620M were normal.					No annotation					
1861	10618304	7	CONCLUSIONS: It is suggested that coexpression of hbeta(1) exposes a more severe functional defect that results in a greater overlap in the relationship between channel inactivation and activation (window current) in T1620M, which is proposed to be a potential pathophysiological mechanism of IVF in vivo.	294	296	3	IVF	intuitive - abstract defined IVF as "idiopathic ventricular fibrillation" a query of IVF does not yield annotated code	C0340493	Paroxysmal familial ventricular fibrillation			
1862	10618304	8	One possible explanation for our finding is an altered alpha-/beta(1)-subunit association in the mutant..					No annotation					
1863	10631148	1	In hereditary retinoblastoma, different epidemiological studies have indicated a preferential paternal transmission of mutant retinoblastoma alleles to offspring, suggesting the occurrence of a meiotic drive.	4	28	25	hereditary retinoblastoma	textual	C0751483	Familial Retinoblastoma			
1863	10631148	1	In hereditary retinoblastoma, different epidemiological studies have indicated a preferential paternal transmission of mutant retinoblastoma alleles to offspring, suggesting the occurrence of a meiotic drive.	15	28	14	retinoblastoma	intuitive - retinoblastoma is in reference to the hereditary variety	C0751483	Familial Retinoblastoma			
1864	10631148	2	To investigate this mechanism, we analyzed sperm samples from six individuals from five unrelated families affected with hereditary retinoblastoma.	122	146	25	hereditary retinoblastoma	textual	C0751483	Familial Retinoblastoma			
1865	10631148	4	The segregation probability of mutant RB1 alleles in sperm samples was assessed by use of the SPERMSEG program, which includes experimental parameters, recombination fractions between the markers, and segregation parameters.					No annotation					
1866	10631148	5	A total of 2,952 single sperm from the six donors were analyzed.					No annotation					
1867	10631148	6	We detected a significant segregation distortion in the data as a whole (P=.0099) and a significant heterogeneity in the segregation rate across donors .0092.					No annotation					
1868	10631148	7	Further analysis shows that this result can be explained by segregation distortion in favor of the normal allele in one donor only and that it does not provide evidence of a significant segregation distortion in the other donors.					No annotation					
1869	10631148	8	The segregation distortion favoring the mutant RB1 allele does not seem to occur during spermatogenesis, and, thus, meiotic drive may result either from various mechanisms, including a fertilization advantage or a better mobility in sperm bearing a mutant RB1 gene, or from the existence of a defectively imprinted gene located on the human X chromosome..					No annotation					
1870	10633128	1	Friedreich ataxia, an autosomal recessive neurodegenerative disease, is the most common of the inherited ataxias.	1	17	17	Friedreich ataxia	textual	C0016719	Friedreich Ataxia			
1870	10633128	1	Friedreich ataxia, an autosomal recessive neurodegenerative disease, is the most common of the inherited ataxias.	43	67	25	neurodegenerative disease	textual	C0524851	Neurodegenerative Disorders			
1870	10633128	1	Friedreich ataxia, an autosomal recessive neurodegenerative disease, is the most common of the inherited ataxias.	106	112	7	ataxias	textual	C0004134	Ataxia			
1871	10633128	3	About 98% of mutant alleles have an expansion of a GAA trinucleotide repeat in intron 1 of the gene.					No annotation					
1872	10633128	4	This leads to reduced levels of the protein, frataxin.					No annotation					
1873	10633128	5	There is mounting evidence to suggest that Friedreich ataxia is the result of accumulation of iron in mitochondria leading to excess production of free radicals, which then results in cellular damage and death.	44	60	17	Friedreich ataxia	textual	C0016719	Friedreich Ataxia			
1874	10633128	6	Currently there is no known treatment that alters the natural course of the disease.					No annotation					
1875	10633128	7	The discovery of the FRDA gene and its possible function has raised hope that rational therapeutic strategies will be developed..					No annotation					
1876	10636421	1	BACKGROUND: X-linked retinoschisis (XLRS) is a relatively rare vitreoretinal dystrophy that causes visual loss in young men.	37	40	4	XLRS	textual - does not yield annotated code	C0271091	Retinoschisis, Juvenile, X-Linked			
1876	10636421	1	BACKGROUND: X-linked retinoschisis (XLRS) is a relatively rare vitreoretinal dystrophy that causes visual loss in young men.	13	34	22	X-linked retinoschisis	textual - yields annotated code	C0271091	Retinoschisis, Juvenile, X-Linked			
1876	10636421	1	BACKGROUND: X-linked retinoschisis (XLRS) is a relatively rare vitreoretinal dystrophy that causes visual loss in young men.	64	86	23	vitreoretinal dystrophy	textual	C0154863	Vitreoretinal dystrophy			
1876	10636421	1	BACKGROUND: X-linked retinoschisis (XLRS) is a relatively rare vitreoretinal dystrophy that causes visual loss in young men.	100	110	11	visual loss	textual	C0042798	Visual impairment			
1877	10636421	10	CONCLUSIONS: The discovery of new point mutations in this study increases the available information regarding the spectrum of genetic abnormalities and clinical manifestations of XLRS.	180	183	4	XLRS	intuitive - abstract defined XLRS as X-linked retinoschisis, a query of XLRS does not yield annotated code	C0271091	Retinoschisis, Juvenile, X-Linked			
1878	10636421	11	However, the limited data failed to reveal a correlation between mutation and disease phenotype.					No annotation					
1879	10636421	12	CLINICAL RELEVANCE: Identification of mutations in the XLRS1 gene and expanded information on clinical manifestations will facilitate early diagnosis, appropriate early therapy, and genetic counseling regarding the prognosis of XLRS..	229	232	4	XLRS	intuitive - abstract defined XLRS as X-linked retinoschisis, a query of XLRS does not yield annotated code	C0271091	Retinoschisis, Juvenile, X-Linked			
1880	10636421	2	Recently, a gene responsible for this disease, designated XLRS1, was identified, and several deleterious gene mutations were reported.					No annotation					
1881	10636421	3	OBJECTIVE: To analyze Japanese patients clinically diagnosed as having XLRS formutational changes in the XLRS1 gene.	72	75	4	XLRS	intuitive - abstract defined XLRS as X-linked retinoschisis, a query of XLRS does not yield annotated code	C0271091	Retinoschisis, Juvenile, X-Linked			
1882	10636421	4	METHODS: Ten patients with XLRS underwent full ophthalmologic examination, including slitlamp biomicroscopy and dilated funduscopy.	28	31	4	XLRS	intuitive - abstract defined XLRS as X-linked retinoschisis, a query of XLRS does not yield annotated code	C0271091	Retinoschisis, Juvenile, X-Linked			
1883	10636421	5	Genomic DNA was isolated from leukocytes, and all exons of the XLRS1 gene were amplified by polymerase chain reaction and analyzed using a direct sequencing method.					No annotation					
1884	10636421	6	RESULTS: Point mutations in the XLRS1 gene were identified in all 10 patients.					No annotation					
1885	10636421	7	The mutations were identical in each of 2 pairs of brothers.					No annotation					
1886	10636421	8	Six of the point mutations represented missense mutations, 1 was a nonsense mutation, and 1 was a frameshift mutation.					No annotation					
1887	10636421	9	Five of the mutations are newly reported herein.					No annotation					
1888	10639175	1	Ataxia-telangiectasia is a hereditary multisystemic disease resulting from mutations of ataxia telangiectasia, mutated (ATM) and is characterized by neurodegeneration, cancer, immune defects, and hypersensitivity to ionizing radiation.	1	21	21	Ataxia-telangiectasia	textual	C0004135	Ataxia Telangiectasia			
1888	10639175	1	Ataxia-telangiectasia is a hereditary multisystemic disease resulting from mutations of ataxia telangiectasia, mutated (ATM) and is characterized by neurodegeneration, cancer, immune defects, and hypersensitivity to ionizing radiation.	28	59	32	hereditary multisystemic disease	textual - the annotated UMLS code is the closest match	C0019247	Hereditary Diseases			
1888	10639175	1	Ataxia-telangiectasia is a hereditary multisystemic disease resulting from mutations of ataxia telangiectasia, mutated (ATM) and is characterized by neurodegeneration, cancer, immune defects, and hypersensitivity to ionizing radiation.	89	109	21	ataxia telangiectasia	textual	C0004135	Ataxia Telangiectasia			
1888	10639175	1	Ataxia-telangiectasia is a hereditary multisystemic disease resulting from mutations of ataxia telangiectasia, mutated (ATM) and is characterized by neurodegeneration, cancer, immune defects, and hypersensitivity to ionizing radiation.	150	166	17	neurodegeneration	textual	C0027746	Nerve Degeneration			
1888	10639175	1	Ataxia-telangiectasia is a hereditary multisystemic disease resulting from mutations of ataxia telangiectasia, mutated (ATM) and is characterized by neurodegeneration, cancer, immune defects, and hypersensitivity to ionizing radiation.	169	174	6	cancer	textual - yields annotated codes, however, also yields 2 others	C0006826,C1306459 	Malignant Neoplasms, Primary malignant neoplasm			
1888	10639175	1	Ataxia-telangiectasia is a hereditary multisystemic disease resulting from mutations of ataxia telangiectasia, mutated (ATM) and is characterized by neurodegeneration, cancer, immune defects, and hypersensitivity to ionizing radiation.	177	190	14	immune defects	textual	C0301889	Immune defect			
1888	10639175	1	Ataxia-telangiectasia is a hereditary multisystemic disease resulting from mutations of ataxia telangiectasia, mutated (ATM) and is characterized by neurodegeneration, cancer, immune defects, and hypersensitivity to ionizing radiation.	197	234	38	hypersensitivity to ionizing radiation	textual	C1859644	Hypersensitivity to ionizing radiation			
1889	10639175	3	The central nervous system (CNS) of Atm-null mice shows a pronounced defect in apoptosis induced by genotoxic stress, suggesting ATM functions to eliminate neurons with excessive genomic damage.					*					
1890	10639175	4	Here, we report that the death effector Bax is required for a large proportion of Atm-dependent apoptosis in the developing CNS after ionizing radiation IR.					No annotation					
1891	10639175	5	Although many of the same regions of the CNS in both Bax-/- and Atm-/- mice were radioresistant, mice nullizygous for both Bax and Atm showed additional reduction in IR-induced apoptosis in the CNS.					No annotation					
1892	10639175	6	Therefore, although the major IR-induced apoptotic pathway in the CNS requires Atm and Bax, a p53-dependent collateral pathway exists that has both Atm- and Bax-independent branches.					No annotation 					
1893	10639175	7	Further, Atm- and Bax-dependent apoptosis in the CNS also required caspase-3 activation.					No annotation 					
1894	10639175	8	These data implicate Bax and caspase-3 as death effectors in neurodegenerative pathways..					No annotation 					
1895	10662807	1	Of the many palmoplantar keratoderma (PPK) conditions, only Papillon-Lefevre syndrome (PLS) and Haim-Munk syndrome (HMS) are associated with premature periodontal destruction.	39	41	3	PPK	textual - does not yield annotated code	C0022596	Palmoplantar Keratosis			
1895	10662807	1	Of the many palmoplantar keratoderma (PPK) conditions, only Papillon-Lefevre syndrome (PLS) and Haim-Munk syndrome (HMS) are associated with premature periodontal destruction.	88	90	3	PLS	textual - yields annotated code and 6 others	C0030360	Papillon-Lefevre Disease			
1895	10662807	1	Of the many palmoplantar keratoderma (PPK) conditions, only Papillon-Lefevre syndrome (PLS) and Haim-Munk syndrome (HMS) are associated with premature periodontal destruction.	117	119	3	HMS	textual - yields annotated code and 1 other	C1855627	HAIM-MUNK SYNDROME			
1895	10662807	1	Of the many palmoplantar keratoderma (PPK) conditions, only Papillon-Lefevre syndrome (PLS) and Haim-Munk syndrome (HMS) are associated with premature periodontal destruction.	13	36	24	palmoplantar keratoderma	textual	C0022596	Palmoplantar Keratosis			
1895	10662807	1	Of the many palmoplantar keratoderma (PPK) conditions, only Papillon-Lefevre syndrome (PLS) and Haim-Munk syndrome (HMS) are associated with premature periodontal destruction.	61	85	25	Papillon-Lefevre syndrome	textual	C0030360	Papillon-Lefevre Disease			
1895	10662807	1	Of the many palmoplantar keratoderma (PPK) conditions, only Papillon-Lefevre syndrome (PLS) and Haim-Munk syndrome (HMS) are associated with premature periodontal destruction.	97	114	18	Haim-Munk syndrome	textual	C1855627	HAIM-MUNK SYNDROME			
1895	10662807	1	Of the many palmoplantar keratoderma (PPK) conditions, only Papillon-Lefevre syndrome (PLS) and Haim-Munk syndrome (HMS) are associated with premature periodontal destruction.	142	174	33	premature periodontal destruction	Could not find suitable UMLS code					
1896	10662807	10	Additionally, the existence of a shared common haplotype for genetic loci flanking the cathepsin C gene suggests that affected subjects descended from the Cochin isolate are homozygous for a mutation inherited identical by descent" from a common ancestor. "					No annotation 					
1897	10662807	11	This finding supports simple autosomal recessive inheritance for HMS in these families.	66	68	3	HMS	intuitive - Abstract defines HMS as "Haim-Munk syndrom", a query of HMS yields annotated code and 1 other	C1855627	HAIM-MUNK SYNDROME			
1898	10662807	12	We also report a mutation of the same exon 6 CTSC codon (2126C-->T) in a Turkish family with classical PLS.	104	106	3	PLS	intuitive - Abstract defines PLS as "Papillon-Lefevre syndrome" a query of PLS  yields annotated code and 6 others	C0030360	Papillon-Lefevre Disease			
1899	10662807	13	These findings provide evidence that PLS and HMS are allelic variants of cathepsin C gene mutations..	38	40	3	PLS	intuitive - Abstract defines PLS as "Papillon-Lefevre syndrome" a query of PLS  yields annotated code and 6 others	C0030360	Papillon-Lefevre Disease			
1899	10662807	13	These findings provide evidence that PLS and HMS are allelic variants of cathepsin C gene mutations..	46	48	3	HMS	intuitive - Abstract defines HMS as "Haim-Munk syndrom", a query of HMS yields annotated code and 1 other	C1855627	HAIM-MUNK SYNDROME			
1900	10662807	2	Although both PLS and HMS share the cardinal features of PPK and severe periodontitis, a number of additional findings are reported in HMS including arachnodactyly, acro-osteolysis, atrophic changes of the nails, and a radiographic deformity of the fingers.	15	17	3	PLS	intuitive - Abstract defines PLS as "Papillon-Lefevre syndrome" a query of PLS  yields annotated code and 6 others	C0030360	Papillon-Lefevre Disease			
1900	10662807	2	Although both PLS and HMS share the cardinal features of PPK and severe periodontitis, a number of additional findings are reported in HMS including arachnodactyly, acro-osteolysis, atrophic changes of the nails, and a radiographic deformity of the fingers.	23	25	3	HMS	intuitive - Abstract defines HMS as "Haim-Munk syndrom", a query of HMS yields annotated code and 1 other	C1855627	HAIM-MUNK SYNDROME			
1900	10662807	2	Although both PLS and HMS share the cardinal features of PPK and severe periodontitis, a number of additional findings are reported in HMS including arachnodactyly, acro-osteolysis, atrophic changes of the nails, and a radiographic deformity of the fingers.	58	60	3	PPK	intuitive - Abstract defines PPK as "Papillon-Lefevre syndrome", a query of PPK does not yield annotated code	C0022596	Palmoplantar Keratosis			
1900	10662807	2	Although both PLS and HMS share the cardinal features of PPK and severe periodontitis, a number of additional findings are reported in HMS including arachnodactyly, acro-osteolysis, atrophic changes of the nails, and a radiographic deformity of the fingers.	136	138	3	HMS	intuitive - Abstract defines HMS as "Haim-Munk syndrom", a query of HMS yields annotated code and 1 other	C1855627	HAIM-MUNK SYNDROME			
1900	10662807	2	Although both PLS and HMS share the cardinal features of PPK and severe periodontitis, a number of additional findings are reported in HMS including arachnodactyly, acro-osteolysis, atrophic changes of the nails, and a radiographic deformity of the fingers.	73	85	13	periodontitis	textual	C0031099	Periodontitis			
1900	10662807	2	Although both PLS and HMS share the cardinal features of PPK and severe periodontitis, a number of additional findings are reported in HMS including arachnodactyly, acro-osteolysis, atrophic changes of the nails, and a radiographic deformity of the fingers.	150	163	14	arachnodactyly	textual	C0003706	Arachnodactyly			
1900	10662807	2	Although both PLS and HMS share the cardinal features of PPK and severe periodontitis, a number of additional findings are reported in HMS including arachnodactyly, acro-osteolysis, atrophic changes of the nails, and a radiographic deformity of the fingers.	166	180	15	acro-osteolysis	textual	C0917990	Acro-Osteolysis			
1900	10662807	2	Although both PLS and HMS share the cardinal features of PPK and severe periodontitis, a number of additional findings are reported in HMS including arachnodactyly, acro-osteolysis, atrophic changes of the nails, and a radiographic deformity of the fingers.	183	211	29	atrophic changes of the nails	Could not find suitable UMLS code					
1900	10662807	2	Although both PLS and HMS share the cardinal features of PPK and severe periodontitis, a number of additional findings are reported in HMS including arachnodactyly, acro-osteolysis, atrophic changes of the nails, and a radiographic deformity of the fingers.	233	256	24	deformity of the fingers	textual	C0410740	Acquired deformity of finger			
1901	10662807	3	While PLS cases have been identified throughout the world, HMS has only been described among descendants of a religious isolate originally from Cochin, India.	7	9	3	PLS	intuitive - Abstract defines PLS as "Papillon-Lefevre syndrome" a query of PLS  yields annotated code and 6 others	C0030360	Papillon-Lefevre Disease			
1901	10662807	3	While PLS cases have been identified throughout the world, HMS has only been described among descendants of a religious isolate originally from Cochin, India.	60	62	3	HMS	intuitive - Abstract defines HMS as "Haim-Munk syndrom", a query of HMS yields annotated code and 1 other	C1855627	HAIM-MUNK SYNDROME			
1902	10662807	4	Parental consanguinity is a characteristic of many cases of both conditions.					*					
1903	10662807	5	Although autosomal recessive transmission of PLS is evident, a more complex" autosomal recessive pattern of inheritance with phenotypic influences from a closely linked modifying locus has been hypothesised for HMS. "	46	48	3	PLS	intuitive - Abstract defines PLS as "Papillon-Lefevre syndrome" a query of PLS  yields annotated code and 6 others	C0030360	Papillon-Lefevre Disease			
1903	10662807	5	Although autosomal recessive transmission of PLS is evident, a more complex" autosomal recessive pattern of inheritance with phenotypic influences from a closely linked modifying locus has been hypothesised for HMS. "	212	214	3	HMS	intuitive - Abstract defines HMS as "Haim-Munk syndrom", a query of HMS yields annotated code and 1 other	C1855627	HAIM-MUNK SYNDROME			
1904	10662807	6	Recently, mutations of the cathepsin C gene have been identified as the underlying genetic defect in PLS.	102	104	3	PLS	intuitive - Abstract defines PLS as "Papillon-Lefevre syndrome" a query of PLS  yields annotated code and 6 others	C0030360	Papillon-Lefevre Disease			
1905	10662807	7	To determine if a cathepsin C mutation is also responsible for HMS, we sequenced the gene in affected and unaffected subjects from the Cochin isolate in which both the PLS and HMS phenotypes appear.	64	66	3	HMS	intuitive - Abstract defines HMS as "Haim-Munk syndrom", a query of HMS yields annotated code and 1 other	C1855627	HAIM-MUNK SYNDROME			
1905	10662807	7	To determine if a cathepsin C mutation is also responsible for HMS, we sequenced the gene in affected and unaffected subjects from the Cochin isolate in which both the PLS and HMS phenotypes appear.	169	171	3	PLS	intuitive - Abstract defines PLS as "Papillon-Lefevre syndrome" a query of PLS  yields annotated code and 6 others	C0030360	Papillon-Lefevre Disease			
1905	10662807	7	To determine if a cathepsin C mutation is also responsible for HMS, we sequenced the gene in affected and unaffected subjects from the Cochin isolate in which both the PLS and HMS phenotypes appear.	177	179	3	HMS	intuitive - Abstract defines HMS as "Haim-Munk syndrom", a query of HMS yields annotated code and 1 other	C1855627	HAIM-MUNK SYNDROME			
1906	10662807	8	Here we report identification of a mutation of cathepsin C (exon 6, 2127A--> G) that changes a highly conserved amino acid in the cathepsin C peptide.					No annotation 					
1907	10662807	9	This mutation segregates with HMS in four nuclear families.	31	33	3	HMS	intuitive - Abstract defines HMS as "Haim-Munk syndrom", a query of HMS yields annotated code and 1 other	C1855627	HAIM-MUNK SYNDROME			
1908	10677309	1	Approximately 0.5%-1% of the general population has been estimated to be heterozygous for a germline mutation in the ATM gene.					No annotation 					
1909	10677309	10	Four heterozygous carriers were patients with bilateral breast cancer.	47	69	23	bilateral breast cancer	textual	C0281267	bilateral breast cancer			
1910	10677309	11	Our results indicate that the mutations identified in this study are A-T disease-causing" mutations that might be associated with an increased risk of breast cancer in heterozygotes. "	70	72	3	A-T	intuitive - abstract defined A-T as "ataxia-telangiectasia" a query of A-T yields the wrong UMLS code	C0004135	Ataxia Telangiectasia			
1910	10677309	11	Our results indicate that the mutations identified in this study are A-T disease-causing" mutations that might be associated with an increased risk of breast cancer in heterozygotes. "	152	164	13	breast cancer	textual - yields both annotated codes	C0678222, C0006142	Breast Carcinoma, Malignant neoplasm of breast			
1911	10677309	12	We conclude that ATM heterozygotes have an approximately ninefold-increased risk of developing a type of breast cancer characterized by frequent bilateral occurrence, early age at onset, and long-term survival.	106	118	13	breast cancer	textual - yields both annotated codes	C0678222, C0006142	Breast Carcinoma, Malignant neoplasm of breast			
1912	10677309	13	The specific characteristics of our population of patients may explain why such a high frequency was not found in other series..					No annotation 					
1913	10677309	3	The finding that ATM-heterozygotes have an increased relative risk for breast cancer was supported by some studies but not confirmed by others.	72	84	13	breast cancer	textual - yields both annotated codes	C0678222, C0006142	Breast Carcinoma, Malignant neoplasm of breast			
1914	10677309	4	In view of this discrepancy, we examined the frequency of ATM germline mutations in a selected group of Dutch patients with breast cancer.	125	137	13	breast cancer	textual - yields both annotated codes	C0678222, C0006142	Breast Carcinoma, Malignant neoplasm of breast			
1915	10677309	5	We have analyzed ATM germline mutations in normal blood lymphocytes, using the protein-truncation test followed by genomic-sequence analysis.					No annotation 					
1916	10677309	6	A high percentage of ATM germline mutations was demonstrated among patients with sporadic breast cancer.	82	103	22	sporadic breast cancer	textual	C1336076	Sporadic Breast Carcinoma			
1917	10677309	7	The 82 patients included in this study had developed breast cancer at age <45 and had survived >/=5 years (mean 15 years), and in 33 (40%) of the patients a contralateral breast tumor had been diagnosed.	54	66	13	breast cancer						
1917	10677309	7	The 82 patients included in this study had developed breast cancer at age <45 and had survived >/=5 years (mean 15 years), and in 33 (40%) of the patients a contralateral breast tumor had been diagnosed.	172	183	12	breast tumor		C1458155	Mammary Neoplasms			
1918	10677309	8	Among these patients we identified seven (8.5%) ATM germline mutations, of which five are distinct.					No annotation 					
1919	10677309	9	One splice-site mutation (IVS10-6T-->G) was detected three times in our series.					No annotation 					
1920	10698963	1	Glucose 6-phosphate dehydrogenase (G6PD) is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function is to produce NADPH, a key electron donor in the defense against oxidizing agents and in reductive biosynthetic reactions.					No annotation 					
1921	10698963	3	We show here that an evolutionary analysis is a key to understanding the biology of a housekeeping gene.					No annotation 					
1922	10698963	5	This is consistent with the notion that all human mutants have residual enzyme activity and that null mutations are lethal at some stage of development.					No annotation 					
1923	10698963	6	Comparing the distribution of mutations in a human housekeeping gene with evolutionary conservation is a useful tool for pinpointing amino acid residues important for the stability or the function of the corresponding protein.					No annotation 					
1924	10698963	7	In view of the current explosive increase in full genome sequencing projects, this tool will become rapidly available for numerous other genes..					No annotation 					
1925	10699184	1	Myotonic dystrophy (DM) is the most prevalent inherited neuromuscular disease in adults.	21	22	2	DM	textual - yields annotated code and 8 others	C0027126	Myotonic Dystrophy			
1925	10699184	1	Myotonic dystrophy (DM) is the most prevalent inherited neuromuscular disease in adults.	1	18	18	Myotonic dystrophy	textual	C0027126	Myotonic Dystrophy			
1925	10699184	1	Myotonic dystrophy (DM) is the most prevalent inherited neuromuscular disease in adults.	57	77	21	neuromuscular disease	textual	C0027868	Neuromuscular Diseases			
1926	10699184	2	The genetic defect is a CTG triplet repeat expansion in the 3'-untranslated region of the myotonic dystrophy protein kinase ( DMPK ) gene, consisting of 15 exons.	91	108	18	myotonic dystrophy	textual	C0027126	Myotonic Dystrophy			
1927	10699184	3	Using a transgenic DMPK-overexpressor mouse model, we demonstrate here that the endogenous mouse DMPK gene and the human DMPK transgene produce six major alternatively spliced mRNAs which have almost identical cell type-dependent distribution frequencies and expression patterns.					No annotation 					
1928	10699184	4	Use of a cryptic 5' splice site in exon 8, which results in absence or presence of 15 nucleotides specifying a VSGGG peptide motif, and/or use of a cryptic 3' splice site in exon 14, which leads to a frameshift in the mRNA reading frame, occur as independent stochastic events in all tissues examined.					No annotation 					
1929	10699184	5	In contrast, the excision of exons 13/14 that causes a frameshift and creates a C-terminally truncated protein is clearly cell type dependent and occurs predominantly in smooth muscle.					No annotation 					
1930	10699184	6	We generated all six full-length mouse cDNAs that result from combinations of these three major splicing events and show that their transfection into cells in culture leads to production of four different approximately 74 kDa full-length (heart-, skeletal muscle- or brain-specific) and two C-terminally truncated approximately 68 kDa (smooth muscle-specific) isoforms.					No annotation 					
1931	10699184	7	Information on DMPK mRNA and protein isoform expression patterns will be useful for recognizing differential effects of CTG (n)expansion in DM manifestation..	141	142	2	DM	intuitive - Abstract defines DM as Myotonic Dystrophy, a query of DM yields annotated code and 8 others	C0027126	Myotonic Dystrophy			
1932	10706858	1	Protein S deficiency is a recognized risk factor for venous thrombosis.	1	20	20	Protein S deficiency	textual	C0242666	Protein S Deficiency			
1932	10706858	1	Protein S deficiency is a recognized risk factor for venous thrombosis.	54	70	17	venous thrombosis	textual - yields annotated code and 1 other	C0042487	Venous Thrombosis			
1933	10706858	2	Of all the inherited thrombophilic conditions, it remains the most difficult to diagnose because of phenotypic variability, which can lead to inconclusive results.	22	45	24	thrombophilic conditions	Could not find suitable UMLS code					
1934	10706858	3	We have overcome this problem by studying a cohort of patients from a single center where the diagnosis was confirmed at the genetic level.					No annotation 					
1935	10706858	5	To avoid selection bias, we confined analysis of total and free protein S levels and thrombotic risk to the patients' relatives.					No annotation 					
1936	10706858	6	In this group of relatives, a low free protein S level was the most reliable predictor of a PROS1 gene defect sensitivity 97.7%, specificity 100%.					No annotation 					
1937	10706858	7	First-degree relatives with a PROS1 gene defect had a 5.0-fold higher risk of thrombosis (95% confidence interval, 1. 5-16.8) than those with a normal PROS1 gene and no other recognized thrombophilic defect.	79	88	10	thrombosis	textual	C0040053	Thrombosis			
1937	10706858	7	First-degree relatives with a PROS1 gene defect had a 5.0-fold higher risk of thrombosis (95% confidence interval, 1. 5-16.8) than those with a normal PROS1 gene and no other recognized thrombophilic defect.	187	206	20	thrombophilic defect	Could not find suitable UMLS code					
1938	10706858	8	Although pregnancy/puerperium and immobility/trauma were important precipitating factors for thrombosis, almost half of the events were spontaneous.	35	44	10	immobility	textual	C0231441	Immobile			
1938	10706858	8	Although pregnancy/puerperium and immobility/trauma were important precipitating factors for thrombosis, almost half of the events were spontaneous.	46	51	6	trauma	textual - yields annotated codes and 2 others	C0175677, C0043251	Injury, Wounds and Injuries			
1938	10706858	8	Although pregnancy/puerperium and immobility/trauma were important precipitating factors for thrombosis, almost half of the events were spontaneous.	94	103	10	thrombosis	textual	C0040053	Thrombosis			
1939	10706858	9	Relatives with splice-site or major structural defects in the PROS1 gene were more likely to have had a thrombotic event and had significantly lower total and free protein S levels than those relatives having missense mutations.	105	120	16	thrombotic event	Could not find suitable UMLS code					
1939	10706858	9	Relatives with splice-site or major structural defects in the PROS1 gene were more likely to have had a thrombotic event and had significantly lower total and free protein S levels than those relatives having missense mutations.	130	180	51	significantly lower total and free protein S levels	*					
1940	10709732	2	This report describes a child with clinical features of ALPS without detectable Fas expression on freshly isolated blood leukocytes.	57	60	4	ALPS	intuitive - abstract defines ALPS as "Autoimmune lymphoproliferative syndrome " a query of ALPS yields the annotated UMLS code, however it also yields 13 others	C1328840	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME			
1941	10709732	3	Detection of FAS transcripts via real-time quantitative PCR made a severe transcriptional defect unlikely.					No annotation					
1942	10709732	4	Sequencing of the FAS gene revealed a 20-nucleotide duplication in the last exon affecting the cytoplasmic signaling domain.					No annotation					
1943	10709732	5	The patient was homozygous for this mutation, whereas the consanguineous parents and the siblings were heterozygous.					No annotation					
1944	10709732	6	The patient reported here is a human homologue of the Fas-null mouse, inasmuch as she carries an autosomal homozygous mutation in the FAS gene and she shows the severe and accelerated ALPS phenotype.	185	188	4	ALPS	intuitive - abstract defines ALPS as "Autoimmune lymphoproliferative syndrome " a query of ALPS yields the annotated UMLS code, however it also yields 13 others	C1328840	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME			
1945	10709732	7	The heterozygous family members did not have the ALPS phenotype, indicating that the disease-causing FAS mutation in this family is autosomal recessive..	50	53	4	ALPS	intuitive - abstract defines ALPS as "Autoimmune lymphoproliferative syndrome " a query of ALPS yields the annotated UMLS code, however it also yields 13 others	C1328840	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME			
1946	10712201	1	Deletions and other abnormalities of human chromosome 15q11-q13 are associated with two developmental disorders, Prader-Willi syndrome (PWS) and Angelman syndrome AS.	137	139	3	PWS	textual - yields annotated code	C0032897	Prader-Willi Syndrome			
1946	10712201	1	Deletions and other abnormalities of human chromosome 15q11-q13 are associated with two developmental disorders, Prader-Willi syndrome (PWS) and Angelman syndrome AS.	164	165	2	AS	textual - yields annotated code, however, also yields 11 others					
1946	10712201	1	Deletions and other abnormalities of human chromosome 15q11-q13 are associated with two developmental disorders, Prader-Willi syndrome (PWS) and Angelman syndrome AS.	89	111	23	developmental disorders	textual - yields annotated code	C0008073	Developmental Disabilities			
1946	10712201	1	Deletions and other abnormalities of human chromosome 15q11-q13 are associated with two developmental disorders, Prader-Willi syndrome (PWS) and Angelman syndrome AS.	114	134	21	Prader-Willi syndrome	textual	C0032897	Prader-Willi Syndrome			
1946	10712201	1	Deletions and other abnormalities of human chromosome 15q11-q13 are associated with two developmental disorders, Prader-Willi syndrome (PWS) and Angelman syndrome AS.	146	162	17	Angelman syndrome	textual	C0162635	Angelman Syndrome			
1947	10712201	2	Loss of expression of imprinted, paternally expressed genes has been implicated in PWS.	84	86	3	PWS	intuitive - abstract defins PWS as "Prader-Willi syndrome" , a query of PWS yields annotated code	C0032897	Prader-Willi Syndrome			
1948	10712201	3	However, the number of imprinted genes that contribute to PWS, and the range over which the imprinting signal acts to silence one copy of the gene in a parent-of-origin-specific manner, are unknown.	59	61	3	PWS	intuitive - abstract defins PWS as "Prader-Willi syndrome" , a query of PWS yields annotated code	C0032897	Prader-Willi Syndrome			
1949	10712201	4	To identify additional imprinted genes that could contribute to the PWS phenotype and to understand the regional control of imprinting in 15q11-q13, we have constructed an imprinted transcript map of the PWS-AS deletion interval.	69	71	3	PWS	intuitive - abstract defins PWS as "Prader-Willi syndrome" , a query of PWS yields annotated code	C0032897	Prader-Willi Syndrome			
1950	10712201	5	The imprinting status of 22 expressed sequence tags derived from the radiation-hybrid human transcript maps or physical maps was determined in a reverse transcriptase-PCR assay and correlated with the position of the transcripts on the physical map.					No annotation					
1951	10712201	6	Seven new paternally expressed transcripts localize to an approximately 1.5-Mb domain surrounding the SNRPN-associated imprinting center, which already includes four imprinted, paternally expressed genes.					No annotation					
1952	10712201	7	All other tested new transcripts in the deletion region were expressed from both alleles.					No annotation					
1953	10712201	8	A domain of exclusive paternal expression surrounding the imprinting center suggests strong regional control of the imprinting process.					No annotation					
1954	10712201	9	This study provides the means for further investigation of additional genes that cause or modify the phenotypes associated with rearrangements of 15q11-q13..					No annotation					
1955	10712209	1	A previous linkage study provided evidence for a prostate cancer-susceptibility locus at 1q24-25.	50	64	15	prostate cancer	*	C0376358, C0600139	Malignant neoplasm of prostate, Prostate carcinoma			
1956	10712209	10	Within the families with male-to-male disease transmission, alpha increased with the early mean age at diagnosis (<65 years, alpha =.19, with 1-LOD support interval.06-.34) and the number of affected family members five or more family members, alpha =.15, with 1-LOD support interval.04-.28.					No annotation					
1957	10712209	11	The highest value of alpha was observed for the 48 families that met all three criteria peak HLOD = 2.25, P=.001, alpha=.29, with 1-LOD support interval.08-.53.					No annotation					
1958	10712209	12	These results support the finding of a prostate cancer-susceptibility gene linked to 1q24-25, albeit in a defined subset of prostate cancer families.	40	54	15	prostate cancer	*	C0376358, C0600139	Malignant neoplasm of prostate, Prostate carcinoma			
1958	10712209	12	These results support the finding of a prostate cancer-susceptibility gene linked to 1q24-25, albeit in a defined subset of prostate cancer families.	40	54	15	prostate cancer	textual	C0376358, C0600139	Malignant neoplasm of prostate, Prostate carcinoma			
1959	10712209	2	Subsequent reports in additional collections of families have yielded conflicting results.					No annotation					
1960	10712209	3	In addition, evidence for locus heterogeneity has been provided by the identification of other putative hereditary prostate cancer loci on Xq27-28, 1q42-43, and 1p36.	116	130	15	hereditary prostate cancer	textual - could not find UMLS code for hereditary prostate cancner	C0376358, C0600139	Malignant neoplasm of prostate, Prostate carcinoma			
1961	10712209	4	The present study describes a combined analysis for six markers in the 1q24-25 region in 772 families affected by hereditary prostate cancer and ascertained by the members of the International Consortium for Prostate Cancer Genetics (ICPCG) from North America, Australia, Finland, Norway, Sweden, and the United Kingdom.	126	140	15	prostate cancer	textual	C0376358, C0600139	Malignant neoplasm of prostate, Prostate carcinoma			
1961	10712209	4	The present study describes a combined analysis for six markers in the 1q24-25 region in 772 families affected by hereditary prostate cancer and ascertained by the members of the International Consortium for Prostate Cancer Genetics (ICPCG) from North America, Australia, Finland, Norway, Sweden, and the United Kingdom.	209	223	15	Prostate Cancer	*	C0376358, C0600139	Malignant neoplasm of prostate, Prostate carcinoma			
1962	10712209	5	Overall, there was some evidence for linkage, with a peak parametric multipoint LOD score assuming heterogeneity (HLOD) of 1.40 (P=.01) at D1S212.					No annotation					
1963	10712209	6	The estimated proportion of families (alpha) linked to the locus was.06 1-LOD support interval.01-.12.					No annotation					
1964	10712209	7	This evidence was not observed by a nonparametric approach, presumably because of the extensive heterogeneity.					No annotation					
1965	10712209	8	Further parametric analysis revealed a significant effect of the presence of male-to-male disease transmission within the families.					No annotation					
1966	10712209	9	In the subset of 491 such families, the peak HLOD was 2.56 (P=.0006) and alpha =.11 (1-LOD support interval.04-.19), compared with HLODs of 0 in the remaining 281 families.					No annotation					
1968	10712225	3	Our findings give evidence of a gonadal mosaicism in the unaffected mother.					No annotation					
1969	10712225	4	We hypothesize that large expansions also occur in the female germline and that a negative selection of oocytes with long repeats might explain the different instability behavior of the male and the female germlines..					No annotation					
1970	10716718	2	Through gene targeting, we have generated a line of Atm mutant mice, Atm(y/y) mice.					No annotation					
1971	10716718	3	In contrast to other Atm mutant mice, Atm(y/y) mice show a lower incidence of thymic lymphoma and survive beyond a few months of age.	79	93	15	thymic lymphoma	textual	C1336745	Thymic Lymphoma			
1972	10716718	4	Atm(y/y) mice exhibit deficits in motor learning indicative of cerebellar dysfunction.	64	85	22	cerebellar dysfunction	textual	C0007760	Cerebellar Diseases			
1973	10716718	5	Even though we found no gross cerebellar degeneration in older Atm(y/y) animals, ectopic and abnormally differentiated Purkinje cells were apparent in mutant mice of all ages.	31	53	23	cerebellar degeneration	textual	C0262404	Cerebellar degeneration			
1974	10716718	6	These findings establish that some neuropathological abnormalities seen in A-T patients also are present in Atm mutant mice.	76	78	3	A-T	intuitive - abstract defined A-T as "ataxia telangiectasia", a query of A-T however yields the wrong UMLS code	C0004135	Ataxia Telangiectasia			
1974	10716718	6	These findings establish that some neuropathological abnormalities seen in A-T patients also are present in Atm mutant mice.	36	66	31	neuropathological abnormalities	Could not find suitable UMLS code					
1975	10716718	7	In addition, we report a previously unrecognized effect of Atm deficiency on development or maintenance of CD4 + 8(+) thymocytes.					No annotation					
1976	10716718	8	We discuss these findings in the context of the hypothesis that abnormal development of Purkinje cells and lymphocytes contributes to the pathogenesis of A-T..	155	157	3	A-T	intuitive - abstract defined A-T as "ataxia telangiectasia", a query of A-T however yields the wrong UMLS code	C0004135	Ataxia Telangiectasia			
1976	10716718	8	We discuss these findings in the context of the hypothesis that abnormal development of Purkinje cells and lymphocytes contributes to the pathogenesis of A-T..	65	96	32	abnormal development of Purkinje	* Could not find suitable UMLS code					
1977	10721669	1	Wilson disease (WD) is an autosomal recessive disorder characterized by copper accumulation in the liver, brain, kidneys, and corneas, and culminating in copper toxication in these organs.	17	18	2	WD	textual - yields annotated code and 2 others	C0019202	Hepatolenticular Degeneration			
1977	10721669	1	Wilson disease (WD) is an autosomal recessive disorder characterized by copper accumulation in the liver, brain, kidneys, and corneas, and culminating in copper toxication in these organs.	1	14	14	Wilson disease	textual - yields annotated code	C0019202	Hepatolenticular Degeneration			
1977	10721669	1	Wilson disease (WD) is an autosomal recessive disorder characterized by copper accumulation in the liver, brain, kidneys, and corneas, and culminating in copper toxication in these organs.	155	171	17	copper toxication	* Could not find suitable UMLS code					
1978	10721669	2	In this study, we analyzed mutations of the responsible gene, ATP7B, in four Japanese patients with WD.	101	102	2	WD	intuitive - abstract defines WD as "Wiloson Disease" a query of WD yields annotated code and 2 others	C0019202	Hepatolenticular Degeneration			
1979	10721669	3	By direct sequencing, we identified five mutations, of which two were novel, and 16 polymorphisms, of which 6 were novel.					No annotation					
1980	10721669	4	The mutations 2871delC and 2513delA shift the reading frame so that truncated abnormal protein is expected.					No annotation					
1981	10721669	5	In contrast to these mutations found in patients with hepatic-type of early onset, the mutations A874V, R778L, and 3892delGTC were either missense mutations or in frame 1-amino acid deletion, and occurred in the patients with hepato-neurologic type of late onset.					No annotation					
1982	10721669	6	The mutations 2871delC and R778L have been previously reported in a relatively large number of Japanese patients.					No annotation					
1983	10721669	7	In particular, R778L is known to be more prevalent in Asian countries than in other countries of the world.					No annotation					
1984	10721669	8	Our data are compatible with the hypothesis that the mutations tend to occur in a population-specific manner.					No annotation					
1985	10721669	9	Therefore, the accumulation of the types of mutations in Japanese patients with WD will facilitate the fast and effective genetic diagnosis of WD in Japanese patients..	81	82	2	WD	intuitive - abstract defines WD as "Wiloson Disease" a query of WD yields annotated code and 2 others	C0019202	Hepatolenticular Degeneration			
1985	10721669	9	Therefore, the accumulation of the types of mutations in Japanese patients with WD will facilitate the fast and effective genetic diagnosis of WD in Japanese patients..	144	145	2	WD	intuitive - abstract defines WD as "Wiloson Disease" a query of WD yields annotated code and 2 others	C0019202	Hepatolenticular Degeneration			
1986	10724160	1	The Rho-family GTPase, Cdc42, can regulate the actin cytoskeleton through activation of Wiskott-Aldrich syndrome protein (WASP) family members.	89	112	24	Wiskott-Aldrich syndrome	textual	C0043194	Wiskott-Aldrich Syndrome			
1987	10724160	2	Activation relieves an autoinhibitory contact between the GTPase-binding domain and the carboxy-terminal region of WASP proteins.					No annotation					
1988	10724160	3	Here we report the autoinhibited structure of the GTPase-binding domain of WASP, which can be induced by the C-terminal region or by organic co-solvents.					No annotation					
1989	10724160	4	In the autoinhibited complex, intramolecular interactions with the GTPase-binding domain occlude residues of the C terminus that regulate the Arp2/3 actin-nucleating complex.					No annotation					
1990	10724160	5	Binding of Cdc42 to the GTPase-binding domain causes a dramatic conformational change, resulting in disruption of the hydrophobic core and release of the C terminus, enabling its interaction with the actin regulatory machinery.					No annotation					
1991	10724160	6	These data show that 'intrinsically unstructured' peptides such as the GTPase-binding domain of WASP can be induced into distinct structural and functional states depending on context..					No annotation					
1992	10724175	2	Although the biochemical function of BRCA1 is not well understood, it is important for DNA damage repair and cell-cycle checkpoint.					No annotation					
1993	10724175	3	BRCA1 exists in nuclear foci but is hyperphosphorylated and disperses after DNA damage.					No annotation					
1994	10724175	4	It is not known whether BRCA1 phosphorylation and dispersion and its function in DNA damage response are related.					No annotation					
1995	10724175	5	In yeast the DNA damage response and the replication-block checkpoint are mediated partly through the Cds1 kinase family.					No annotation					
1996	10724175	6	Here we report that the human Cds1 kinase (hCds1/Chk2) regulates BRCA1 function after DNA damage by phosphorylating serine 988 of BRCA1.					No annotation 					
1997	10724175	7	We show that hCds1 and BRCA1 interact and co-localize within discrete nuclear foci but separate after gamma irradiation.					No annotation					
1998	10724175	8	Phosphorylation of BRCA1 at serine 988 is required for the release of BRCA1 from hCds1.					No annotation					
1999	10724175	9	This phosphorylation is also important for the ability of BRCA1 to restore survival after DNA damage in the BRCA1-mutated cell line HCC1937..					No annotation					
2000	10732811	1	Machado-Joseph disease (MJD) belongs to a group of clinically and genetically heterogeneous neurodegenerative disorders characterized by progressive cerebellar ataxia.	25	27	3	MJD	textual	C0024408	Machado-Joseph Disease			
2000	10732811	1	Machado-Joseph disease (MJD) belongs to a group of clinically and genetically heterogeneous neurodegenerative disorders characterized by progressive cerebellar ataxia.	1	22	22	Machado-Joseph disease	textual	C0024408	Machado-Joseph Disease			
2000	10732811	1	Machado-Joseph disease (MJD) belongs to a group of clinically and genetically heterogeneous neurodegenerative disorders characterized by progressive cerebellar ataxia.	79	119	41	heterogeneous neurodegenerative disorders	textual - yields annotated code and  1 other	C0524851	Neurodegenerative Disorders			
2000	10732811	1	Machado-Joseph disease (MJD) belongs to a group of clinically and genetically heterogeneous neurodegenerative disorders characterized by progressive cerebellar ataxia.	138	166	29	progressive cerebellar ataxia	textual	C0393525	Progressive cerebellar ataxia			
2001	10732811	10	In rat testis, a smaller transcript of 1.3 kb was identified.					No annotation					
2002	10732811	11	Transcription of rsca3 was detected in most rat tissues including brain.					No annotation					
2003	10732811	12	Analyzing the expression level of the SCA3 gene in several human brain sections revealed no significant higher mRNA level in regions predominantly affected in MJD.	160	162	3	MJD	intuitive - abstract defined MJD as "Machado-Joseph disease" a query of MJD yields annotated code	C0024408	Machado-Joseph Disease			
2004	10732811	13	Thus additional molecules and/or regulatory events are necessary to explain the exclusive degeneration of certain brain areas..	91	125	35	degeneration of certain brain areas	intuitive - a query of "degeneration of brain" yields annotated code	C0154671	Degenerative brain disorder			
2005	10732811	2	The disease-causing mutation has recently been identified as an unstable and expanded (CAG)n trinucleotide repeat in a novel gene of unknown function.					No annotation					
2006	10732811	3	In Caucasians, repeat expansions in the MJD1 gene have also been found in patients with the clinically distinct autosomal dominant spinocerebellar ataxia type 3 SCA3.	162	165	4	SCA3	textual - yields annotated code	C0024408	Machado-Joseph Disease			
2006	10732811	3	In Caucasians, repeat expansions in the MJD1 gene have also been found in patients with the clinically distinct autosomal dominant spinocerebellar ataxia type 3 SCA3.	132	160	29	spinocerebellar ataxia type 3	textual - yields annotated code	C0024408	Machado-Joseph Disease			
2008	10732811	5	The rat and human ataxin-3 genes are highly homologous with an overall sequence identity of approximately 88%.					No annotation					
2009	10732811	6	However, the C-terminal end of the putative protein differs strongly from the published human sequence.					No annotation					
2010	10732811	7	The (CAG)n block in the rat cDNA consists of just three interrupted units suggesting that a long polyglutamine stretch is not essential for the normal function of the ataxin-3 protein in rodents.					No annotation					
2012	10732811	9	The mature transcript is approximately 6 kb in length.					No annotation					
2013	10732816	1	X-linked recessive Emery-Dreifuss muscular dystrophy (EDMD) is an inherited muscle disorder characterized by the clinical triad of progressive wasting of humero-peroneal muscles, early contractures of the elbows, Achilles tendons and postcervical muscles, and cardiac conduction block with a high risk of sudden death.	55	58	4	EDMD	textual - yields annotated code	C0751337	X-Linked Emery-Dreifuss Muscular Dystrophy			
2013	10732816	1	X-linked recessive Emery-Dreifuss muscular dystrophy (EDMD) is an inherited muscle disorder characterized by the clinical triad of progressive wasting of humero-peroneal muscles, early contractures of the elbows, Achilles tendons and postcervical muscles, and cardiac conduction block with a high risk of sudden death.	1	52	52	X-linked recessive Emery-Dreifuss muscular dystrophy	intuitive - taking out "recessive" and querying "X-linked Emery-Dreifuss muscular dystrophy" yields annotated code	C0751337	X-Linked Emery-Dreifuss Muscular Dystrophy			
2013	10732816	1	X-linked recessive Emery-Dreifuss muscular dystrophy (EDMD) is an inherited muscle disorder characterized by the clinical triad of progressive wasting of humero-peroneal muscles, early contractures of the elbows, Achilles tendons and postcervical muscles, and cardiac conduction block with a high risk of sudden death.	77	91	15	muscle disorder	textual	C0026848	Myopathy			
2013	10732816	1	X-linked recessive Emery-Dreifuss muscular dystrophy (EDMD) is an inherited muscle disorder characterized by the clinical triad of progressive wasting of humero-peroneal muscles, early contractures of the elbows, Achilles tendons and postcervical muscles, and cardiac conduction block with a high risk of sudden death.	132	177	46	progressive wasting of humero-peroneal muscles	intuitive - a search of "wasting muscle" yields annotated code	C0026846	Muscular Atrophy			
2013	10732816	1	X-linked recessive Emery-Dreifuss muscular dystrophy (EDMD) is an inherited muscle disorder characterized by the clinical triad of progressive wasting of humero-peroneal muscles, early contractures of the elbows, Achilles tendons and postcervical muscles, and cardiac conduction block with a high risk of sudden death.	186	211	26	contractures of the elbows	textual - yields annotated codes	C1833142, C1849371	Contractures of elbows, Elbow contracture			
2013	10732816	1	X-linked recessive Emery-Dreifuss muscular dystrophy (EDMD) is an inherited muscle disorder characterized by the clinical triad of progressive wasting of humero-peroneal muscles, early contractures of the elbows, Achilles tendons and postcervical muscles, and cardiac conduction block with a high risk of sudden death.	186	229	44	contractures of the elbows, Achilles tendons	intuitive - list is present, a query of "contractures of the Achilles tendons" yields annotated code	C0410264	Contracture of tendo achilles			
2013	10732816	1	X-linked recessive Emery-Dreifuss muscular dystrophy (EDMD) is an inherited muscle disorder characterized by the clinical triad of progressive wasting of humero-peroneal muscles, early contractures of the elbows, Achilles tendons and postcervical muscles, and cardiac conduction block with a high risk of sudden death.	186	254	69	contractures of the elbows, Achilles tendons and postcervical muscles	intuitive - list is present, could not find suitable UMLS code for "contractures of the postcervical muscles"					
2013	10732816	1	X-linked recessive Emery-Dreifuss muscular dystrophy (EDMD) is an inherited muscle disorder characterized by the clinical triad of progressive wasting of humero-peroneal muscles, early contractures of the elbows, Achilles tendons and postcervical muscles, and cardiac conduction block with a high risk of sudden death.	261	284	24	cardiac conduction block	Could not find suitable UMLS code					
2013	10732816	1	X-linked recessive Emery-Dreifuss muscular dystrophy (EDMD) is an inherited muscle disorder characterized by the clinical triad of progressive wasting of humero-peroneal muscles, early contractures of the elbows, Achilles tendons and postcervical muscles, and cardiac conduction block with a high risk of sudden death.	306	317	12	sudden death	textual - yields annotated code and 1 other	C0011071	Sudden death			
2014	10732816	2	The gene for EDMD on Xq28 encodes a novel protein named emerin that localizes at the nuclear membrane of skeletal, cardiac and smooth muscles and some other non-muscle tissues.	14	17	4	EDMD	intuitive - abstract defines EDMD as "X-linked Emery-Dreifuss muscular dystrophy" a query of EDMD  yields annotated code	C0751337	X-Linked Emery-Dreifuss Muscular Dystrophy			
2015	10732816	3	To investigate a possible physiological role for emerin, we examined the ultrastructural localization of the protein in human skeletal muscle and HeLa cells, using ultrathin cryosections.					No annotation					
2016	10732816	4	We found that the immune-labeled colloidal gold particles were localized on the nucleoplasmic surface of the inner nuclear membrane, but not on the nuclear pore.					No annotation					
2017	10732816	5	Emerin stayed on the cytoplasmic surface of the nuclear lamina, even after detergent treatment that solubilizes membrane lipids and washes out membrane proteins.					No annotation					
2018	10732816	6	These results suggest that emerin anchors at the inner nuclear membrane through the hydrophobic stretch, and protrudes from the hydrophilic region to the nucleoplasm where it interacts with the nuclear lamina.					No annotation					
2019	10732816	7	We speculate that emerin contributes to maintain the nuclear structure and stability, as well as nuclear functions, particularly in muscle tissues that have severe stress with rigorous contraction-relaxation movements and calcium flux..					No annotation					
2020	10735274	1	Friedreich ataxia (FRDA) is the most common form of autosomal recessive ataxia.	20	23	4	FRDA	textual - yields the alternative code	C0016719	Friedreich Ataxia	[ C1856689 ] FRIEDREICH ATAXIA 1		
2020	10735274	1	Friedreich ataxia (FRDA) is the most common form of autosomal recessive ataxia.	1	17	17	Friedreich ataxia	textual - yields annotated code, included is a possible alternative	C0016719	Friedreich Ataxia	[ C1856689 ] FRIEDREICH ATAXIA 1		
2020	10735274	1	Friedreich ataxia (FRDA) is the most common form of autosomal recessive ataxia.	53	78	26	autosomal recessive ataxia	intuitive - UMLS code was the closest I could find to represent the concept, text does not yield annotated code	C0004138	Ataxias, Hereditary			
2021	10735274	2	The disease locus was assigned to chromosome 9 and the disease gene, STM7/X25, has been isolated.					No annotation					
2024	10735274	5	Studying two siblings with FRDA from two families we did not detect a mutation in STM7/X25.	28	31	4	FRDA	intuitive - abstract defines FRDA as "Friedreich Ataxia" a query of FRDA yields alternative code	C0016719	Friedreich Ataxia	[ C1856689 ] FRIEDREICH ATAXIA 1		
2025	10735274	6	Haplotype analysis of the STM7/X25 region of chromosome 9 demonstrated that the relevant portion of chromosome 9 differs in the patients.					No annotation					
2026	10735274	7	Although the patients studied had typical FRDA, one sibpair had the uncommon symptom of retained tendon reflexes.	43	46	4	FRDA	intuitive - abstract defines FRDA as "Friedreich Ataxia" a query of FRDA yields alternative code	C0016719	Friedreich Ataxia	[ C1856689 ] FRIEDREICH ATAXIA 1		
2026	10735274	7	Although the patients studied had typical FRDA, one sibpair had the uncommon symptom of retained tendon reflexes.	89	112	24	retained tendon reflexes	Could not find suitable UMLS code					
2027	10735274	8	In order to investigate whether retained tendon reflexes are characteristic of FRDA caused by the second locus, FRDA2, we studied an unrelated FRDA patient with retained tendon reflexes.	80	83	4	FRDA	intuitive - abstract defines FRDA as "Friedreich Ataxia" a query of FRDA yields alternative code	C0016719	Friedreich Ataxia	[ C1856689 ] FRIEDREICH ATAXIA 1		
2027	10735274	8	In order to investigate whether retained tendon reflexes are characteristic of FRDA caused by the second locus, FRDA2, we studied an unrelated FRDA patient with retained tendon reflexes.	144	147	4	FRDA	intuitive - abstract defines FRDA as "Friedreich Ataxia" a query of FRDA yields alternative code	C0016719	Friedreich Ataxia	[ C1856689 ] FRIEDREICH ATAXIA 1		
2027	10735274	8	In order to investigate whether retained tendon reflexes are characteristic of FRDA caused by the second locus, FRDA2, we studied an unrelated FRDA patient with retained tendon reflexes.	33	56	24	retained tendon reflexes	Could not find suitable UMLS code					
2027	10735274	8	In order to investigate whether retained tendon reflexes are characteristic of FRDA caused by the second locus, FRDA2, we studied an unrelated FRDA patient with retained tendon reflexes.	162	185	24	retained tendon reflexes	Could not find suitable UMLS code					
2028	10735274	9	The observation of typical mutations in STM7/X25 (GAA expansions) in this patient demonstrates that the two genetically different forms of FRDA cannot be distinguished clinically..	140	143	4	FRDA	intuitive - abstract defines FRDA as "Friedreich Ataxia" a query of FRDA yields alternative code	C0016719	Friedreich Ataxia	[ C1856689 ] FRIEDREICH ATAXIA 1		
2029	10736265	1	Glycerol kinase (GK) represents the primary entry of glycerol into glucose and triglyceride metabolism.					No annotation					
2030	10736265	10	Although patients with the N288D mutation suffered from severe hyperglycerolemia, they were apparently otherwise healthy.	64	80	17	hyperglycerolemia	textual - yields annotated code	C0268418	Deficiency of glycerol kinase			
2031	10736265	11	The phenotypic analysis of the family members, however, showed that glycerol levels correlated with impaired glucose metabolism and body-fat distribution.	101	127	27	impaired glucose metabolism	*					
2031	10736265	11	The phenotypic analysis of the family members, however, showed that glycerol levels correlated with impaired glucose metabolism and body-fat distribution.	101	153	53	impaired glucose metabolism and body-fat distribution	*					
2032	10736265	12	We subsequently noted a substantial variation in glycerolemia in subjects of the initial cohort with normal plasma glycerol levels and demonstrated that this variance showed significant family resemblance.					No annotation					
2033	10736265	13	These results suggest a potentially important genetic connection between fasting glycerolemia and glucose homeostasis, not only in this X-linked deficiency but, potentially, in individuals within the normal" range of plasma glycerol concentrations.. "	137	155	19	X-linked deficiency	intuitive - From reading the abstract it appears that this is referring to the hyperglycerolemia	C0268418	Deficiency of glycerol kinase			
2034	10736265	2	Impaired glucose tolerance (IGT) and hypertriglyceridemia are associated with an increased risk of diabetes mellitus and cardiovascular disease.	29	31	3	IGT	textual - does not yield annotated code	C0271650	impaired glucose tolerance			
2034	10736265	2	Impaired glucose tolerance (IGT) and hypertriglyceridemia are associated with an increased risk of diabetes mellitus and cardiovascular disease.	1	26	26	Impaired glucose tolerance	textual	C0271650	impaired glucose tolerance			
2034	10736265	2	Impaired glucose tolerance (IGT) and hypertriglyceridemia are associated with an increased risk of diabetes mellitus and cardiovascular disease.	38	57	20	hypertriglyceridemia	textual - yields annotated code and 1 other	C0020557	Hypertriglyceridemia			
2034	10736265	2	Impaired glucose tolerance (IGT) and hypertriglyceridemia are associated with an increased risk of diabetes mellitus and cardiovascular disease.	100	116	17	diabetes mellitus	textual	C0011849	Diabetes Mellitus			
2034	10736265	2	Impaired glucose tolerance (IGT) and hypertriglyceridemia are associated with an increased risk of diabetes mellitus and cardiovascular disease.	122	143	22	cardiovascular disease	textual - yields annotated code and 1 other	C0007222	Cardiovascular Diseases			
2035	10736265	3	The relationship between glycerol and the risk of IGT, however, is poorly understood.	51	53	3	IGT	intuitive - abstract defined IGT as "Impaired Glucose Tolerance" a query of IGT does not yield annotated code	C0271650	impaired glucose tolerance			
2036	10736265	4	We therefore undertook the study of fasting plasma glycerol levels in a cohort of 1,056 unrelated men and women of French-Canadian descent.					No annotation					
2037	10736265	5	Family screening in the initial cohort identified 18 men from five families with severe hyperglycerolemia (values above 2.0 mmol/liter) and demonstrated an X-linked pattern of inheritance.	89	105	17	hyperglycerolemia	textual - yields annotated code	C0268418	Deficiency of glycerol kinase			
2038	10736265	6	Linkage analysis of the data from 12 microsatellite markers surrounding the Xp21.3 GK gene resulted in a peak LOD score of 3.46, centered around marker DXS8039.					No annotation					
2039	10736265	7	In addition, since all of the families originated in a population with a proven founder effect-the Saguenay Lac-St.-Jean region of Quebec-a common disease haplotype was sought.					No annotation					
2040	10736265	8	Indeed, a six-marker haplotype extending over a region of 5.5 cM was observed in all families.					No annotation					
2041	10736265	9	Resequencing of the GK gene in family members led to the discovery of a N288D missense mutation in exon 10, which resulted in the substitution of a highly conserved asparagine residue by a negatively charged aspartic acid.					No annotation					
2042	10737119	1	Primary dystonias are movement disorders with dystonia as a major symptom.	1	17	17	Primary dystonias	textual	C0752203	Dystonia, Primary			
2042	10737119	1	Primary dystonias are movement disorders with dystonia as a major symptom.	23	40	18	movement disorders	textual	C0026650	Movement Disorders			
2042	10737119	1	Primary dystonias are movement disorders with dystonia as a major symptom.	47	54	8	dystonia	textual - yields annotated code and 1 other	C0013421	Dystonia			
2043	10737119	10	In sensorineural deafness, dystonia, and mental retardation, mutations were found in the gene DDP coding for a polypeptide of unknown function.	4	25	22	sensorineural deafness	textual	C0018784	Sensorineural Hearing Loss			
2043	10737119	10	In sensorineural deafness, dystonia, and mental retardation, mutations were found in the gene DDP coding for a polypeptide of unknown function.	28	35	8	dystonia	textual - yields annotated code and 1 other	C0013421	Dystonia			
2043	10737119	10	In sensorineural deafness, dystonia, and mental retardation, mutations were found in the gene DDP coding for a polypeptide of unknown function.	42	59	18	mental retardation	textual	C0025362	Mental Retardation			
2044	10737119	11	This article reviews the clinical and molecular genetics of primary dystonias, critically discusses present findings, and proposes referring to the known forms, most of which can be distinguished by genetic criteria, as dystonias 1-12..	61	77	17	primary dystonias	textual	C0752203	Dystonia, Primary			
2044	10737119	11	This article reviews the clinical and molecular genetics of primary dystonias, critically discusses present findings, and proposes referring to the known forms, most of which can be distinguished by genetic criteria, as dystonias 1-12..	69	77	9	dystonias	textual - yields annotated code and 1 other	C0013421	Dystonia			
2045	10737119	2	They are frequently inherited as Mendelian traits.					No annotation					
2046	10737119	3	There are at least eight clinically distinct autosomal dominant and two X-linked recessive forms.					No annotation					
2047	10737119	4	In addition, pedigree analyses suggest the occurrence of an autosomal recessive variant.					No annotation					
2048	10737119	5	The clinical classification is increasingly being replaced by a genetic one.					No annotation					
2049	10737119	6	To date gene loci have been identified in at least six autosomal dominant forms, i.e., in idiopathic torsion dystonia (9q34), focal dystonia (18p), adult-onset idiopathic torsion dystonia of mixed type (8p21-q22), dopa-responsive dystonia (14q22.1-q22.2), and paroxysmal dystonic choreoathetosis 2q25-q33; 1p21-p13.3.	91	117	27	idiopathic torsion dystonia	textual	C0013423	Dystonia Musculorum Deformans			
2049	10737119	6	To date gene loci have been identified in at least six autosomal dominant forms, i.e., in idiopathic torsion dystonia (9q34), focal dystonia (18p), adult-onset idiopathic torsion dystonia of mixed type (8p21-q22), dopa-responsive dystonia (14q22.1-q22.2), and paroxysmal dystonic choreoathetosis 2q25-q33; 1p21-p13.3.	127	140	14	focal dystonia	textual	C0743332	Focal Dystonia			
2049	10737119	6	To date gene loci have been identified in at least six autosomal dominant forms, i.e., in idiopathic torsion dystonia (9q34), focal dystonia (18p), adult-onset idiopathic torsion dystonia of mixed type (8p21-q22), dopa-responsive dystonia (14q22.1-q22.2), and paroxysmal dystonic choreoathetosis 2q25-q33; 1p21-p13.3.	149	187	39	adult-onset idiopathic torsion dystonia	textual	C0752199	Adult-Onset Idiopathic Torsion Dystonias			
2049	10737119	6	To date gene loci have been identified in at least six autosomal dominant forms, i.e., in idiopathic torsion dystonia (9q34), focal dystonia (18p), adult-onset idiopathic torsion dystonia of mixed type (8p21-q22), dopa-responsive dystonia (14q22.1-q22.2), and paroxysmal dystonic choreoathetosis 2q25-q33; 1p21-p13.3.	215	238	24	dopa-responsive dystonia	textual	C1851920	DYSTONIA, DOPA-RESPONSIVE			
2049	10737119	6	To date gene loci have been identified in at least six autosomal dominant forms, i.e., in idiopathic torsion dystonia (9q34), focal dystonia (18p), adult-onset idiopathic torsion dystonia of mixed type (8p21-q22), dopa-responsive dystonia (14q22.1-q22.2), and paroxysmal dystonic choreoathetosis 2q25-q33; 1p21-p13.3.	261	295	35	paroxysmal dystonic choreoathetosis	textual	C0270740	Paroxysmal choreoathetosis			
2050	10737119	7	Gene loci in the X-linked recessive forms have been assigned to Xq13.1 in the X-linked dystonia parkinsonism syndrome and to Xq22 in X-linked sensorineural deafness, dystonia, and mental retardation.	79	108	30	X-linked dystonia parkinsonism	textual	C1839130	DYSTONIA 3, TORSION, X-LINKED			
2050	10737119	7	Gene loci in the X-linked recessive forms have been assigned to Xq13.1 in the X-linked dystonia parkinsonism syndrome and to Xq22 in X-linked sensorineural deafness, dystonia, and mental retardation.	88	95	8	dystonia	textual - yields annotated code and 1 other	C0013421	Dystonia			
2050	10737119	7	Gene loci in the X-linked recessive forms have been assigned to Xq13.1 in the X-linked dystonia parkinsonism syndrome and to Xq22 in X-linked sensorineural deafness, dystonia, and mental retardation.	143	164	22	sensorineural deafness	textual	C0018784	Sensorineural Hearing Loss			
2050	10737119	7	Gene loci in the X-linked recessive forms have been assigned to Xq13.1 in the X-linked dystonia parkinsonism syndrome and to Xq22 in X-linked sensorineural deafness, dystonia, and mental retardation.	181	198	18	mental retardation	textual	C0025362	Mental Retardation			
2051	10737119	8	The disease genes have been identified in two autosomal dominant forms and in one X-linked recessive form.					No annotation					
2052	10737980	1	X-linked Adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disease.	1	29	29	X-linked Adrenoleukodystrophy	textual	C0162309	Adrenoleukodystrophy			
2052	10737980	1	X-linked Adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disease.	32	36	5	X-ALD	textual - does not yield annotated code	C0162309	Adrenoleukodystrophy			
2052	10737980	1	X-linked Adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disease.	60	78	19	peroxisomal disease	Could not find suitable UMLS code					
2053	10737980	10	The method is based on SSCP analysis of nested PCR fragments followed by sequence-determination reactions.					No annotation					
2054	10737980	11	Using this methodology we have found X-ALD mutations in 30 kindreds, including 15 not previously reported..	38	42	5	X-ALD	intuitive - abstract defines X-ALD as "X-linked Adrenoleukodystrophy" a query of X-ALD does not yield annotated code	C0162309	Adrenoleukodystrophy			
2055	10737980	2	It mainly involves the nervous system white matter, adrenal cortex and testes.					No annotation					
2056	10737980	3	Several distinct clinical phenotypes are known.					No annotation					
2057	10737980	4	The principal biochemical abnormality is the accumulation of saturated very-long-chain fatty acids (VLCFAs : > C22:0, mainly C26:0), which is due to impaired capacity for beta-oxidation in peroxisomes.					No annotation					
2058	10737980	5	Diagnosis is usually based on the VLCFA levels in plasma or cultured skin fibroblasts in both patients and carriers.					No annotation					
2059	10737980	6	In 0.1% of affected males, however, the plasma C26:0 level is borderline normal, and 15% of obligate female carriers have normal results.					No annotation					
2060	10737980	7	Effective mutation detection in these families is therefore fundamental to unambiguously determine the genetic status of each individual at risk.					No annotation					
2061	10737980	8	Of particular concern are female members of kindreds segregating X-ALD mutations, because normal VLCFA levels do not guarantee lack of carrier status.	66	70	5	X-ALD	intuitive - abstract defines X-ALD as "X-linked Adrenoleukodystrophy" a query of X-ALD does not yield annotated code	C0162309	Adrenoleukodystrophy			
2062	10737980	9	We describe a fast method for detection of X-ALD mutations.	44	48	5	X-ALD	intuitive - abstract defines X-ALD as "X-linked Adrenoleukodystrophy" a query of X-ALD does not yield annotated code	C0162309	Adrenoleukodystrophy			
2063	10737981	2	We report five new beta-galactosidase gene mutations in nine Italian patients and one fetus, segregating in seven unrelated families.					No annotation					
2064	10737981	3	Six of the eight patients with the infantile, severe form of the disease presented cardiac involvement, a feature rarely associated with GM1-gangliosidosis.	138	155	18	GM1-gangliosidosis	textual	C0085131	Gangliosidosis GM1			
2065	10737981	4	Molecular analysis of the patients' RNA and DNA identified two new RNA splicing defects, three new and three previously described amino acid substitutions.					No annotation					
2066	10737981	5	Interestingly, all patients with cardiac involvement were homozygous for one of these mutations: R59H, Y591C, Y591N, or IVS14-2A>G.					No annotation					
2067	10737981	6	In contrast, all other patients were compound heterozygous for one of the following mutations: R201H, R482H, G579D, IVS8+2T>C.					No annotation					
2068	10737981	7	Although we could not directly correlate the presence of cardiac abnormalities with specific genetic lesions, the mutations identified in patients with cardiomyopathy fell in the GLB1 cDNA region common to the lysosomal enzyme and the Hbeta-Gal-related protein, also known as the elastin binding protein EBP.	58	78	21	cardiac abnormalities	textual	C0018798	Congenital Heart Defects			
2068	10737981	7	Although we could not directly correlate the presence of cardiac abnormalities with specific genetic lesions, the mutations identified in patients with cardiomyopathy fell in the GLB1 cDNA region common to the lysosomal enzyme and the Hbeta-Gal-related protein, also known as the elastin binding protein EBP.	153	166	14	cardiomyopathy	textual	C0878544	Cardiomyopathies			
2069	10737981	8	Consequently, both molecules are affected by the mutations, and they may contribute differently to the occurrence of specific clinical manifestations..					No annotation					
2070	10742101	1	The HMGI family of proteins consists of three members, HMGIC, HMGI and HMGI(Y), that function as architectural factors and are essential components of the enhancesome.					No annotation					
2071	10742101	2	HMGIC is predominantly expressed in proliferating, undifferentiated mesenchymal cells and is not detected in adult tissues.					No annotation					
2072	10742101	3	It is disrupted and misexpressed in a number of mesenchymal tumour cell types, including fat-cell tumours lipomas.	49	66	18	mesenchymal tumour	textual	C1334699	Mesenchymal Cell Neoplasm			
2072	10742101	3	It is disrupted and misexpressed in a number of mesenchymal tumour cell types, including fat-cell tumours lipomas.	99	105	7	tumours	textual - yields annotated code, however, also yields 1 other	C0027651	Neoplasms			
2072	10742101	3	It is disrupted and misexpressed in a number of mesenchymal tumour cell types, including fat-cell tumours lipomas.	107	113	7	lipomas	textual	C0023798	Lipoma			
2073	10742101	4	In addition Hmgic-/- mice have a deficiency in fat tissue.	34	57	24	deficiency in fat tissue	Could not find suitable UMLS code					
2074	10742101	5	To study its role in adipogenesis and obesity, we examined Hmgic expression in the adipose tissue of adult, obese mice.	39	45	7	obesity	textual	C0028754	Obesity			
2074	10742101	5	To study its role in adipogenesis and obesity, we examined Hmgic expression in the adipose tissue of adult, obese mice.	109	113	5	obese	textual	C0028754	Obesity			
2075	10742101	6	Mice with a partial or complete deficiency of Hmgic resisted diet-induced obesity.	33	51	19	deficiency of Hmgic	*					
2075	10742101	6	Mice with a partial or complete deficiency of Hmgic resisted diet-induced obesity.	75	81	7	obesity	textual	C0028754	Obesity			
2076	10742101	7	Disruption of Hmgic caused a reduction in the obesity induced by leptin deficiency (Lepob/Lepob) in a gene-dose-dependent manner.	47	53	7	obesity	textual	C0028754	Obesity			
2076	10742101	7	Disruption of Hmgic caused a reduction in the obesity induced by leptin deficiency (Lepob/Lepob) in a gene-dose-dependent manner.	66	82	17	leptin deficiency	*					
2077	10742101	8	Our studies implicate a role for HMGIC in fat-cell proliferation, indicating that it may be an adipose-specific target for the treatment of obesity..	141	147	7	obesity	textual	C0028754	Obesity			
2078	10746568	1	Factor X deficiency is a rare haemorrhagic condition, normally inherited as an autosomal recessive trait, in which a variable clinical presentation correlates poorly with laboratory phenotype.	1	19	19	Factor X deficiency	textual - yields annotated code, however, also yields 1 other	C0015519	Factor X Deficiency			
2078	10746568	1	Factor X deficiency is a rare haemorrhagic condition, normally inherited as an autosomal recessive trait, in which a variable clinical presentation correlates poorly with laboratory phenotype.	31	52	22	haemorrhagic condition	textual	C0019087	Hemorrhagic Disorders			
2079	10746568	2	The factor X (F10) genes of 14 unrelated individuals with factor X deficiency (12 familial and two sporadic cases) were sequenced yielding a total of 13 novel mutations.	59	77	19	factor X deficiency	textual - yields annotated code, however, also yields 1 other	C0015519	Factor X Deficiency			
2080	10746568	3	Family studies were performed in order to distinguish the contributions of individual mutant F10 alleles to the clinical and laboratory phenotypes.					No annotation					
2081	10746568	4	Missense mutations were studied by means of molecular modelling, whereas single basepair substitutions in splice sites and the 5' flanking region were examined by in vitro splicing assay and luciferase reporter gene assay respectively.					No annotation					
2082	10746568	5	The deletion allele of a novel hexanucleotide insertion/deletion polymorphism in the F10 gene promoter region was shown by reporter gene assay, to reduce promoter activity by approximately 20%.					No annotation					
2083	10746568	6	One family manifesting an autosomal dominant pattern of inheritance possessed three clinically affected members who were heterozygous for a splice-site mutation that was predicted to lead to the production of a truncated protein product.					No annotation					
2084	10746568	7	A model which accounts for the dominant negative effect of this lesion is presented.					No annotation					
2085	10746568	8	Variation in the antigen level of heterozygous relatives of probands was found to be significantly higher between families than within families, consistent with the view that the nature of the F10 lesion(s) segregating in a given family is a prime determinant of the laboratory phenotype.					No annotation					
2086	10746568	9	By contrast, no such relationship could be discerned between laboratory phenotype and polymorphism genotype..					No annotation					
2087	10747931	1	Chromosomal translocations in human lipomas frequently create fusion transcripts encoding high mobility group (HMG) I-C DNA-binding domains and C-terminal sequences from different presumed transcription factors, suggesting a potential role for HMG I-C in the development of lipomas.	37	43	7	lipomas	textual	C0023798	Lipoma			
2087	10747931	1	Chromosomal translocations in human lipomas frequently create fusion transcripts encoding high mobility group (HMG) I-C DNA-binding domains and C-terminal sequences from different presumed transcription factors, suggesting a potential role for HMG I-C in the development of lipomas.	275	281	7	lipomas	textual	C0023798	Lipoma			
2088	10747931	2	To evaluate the role of the HMG I-C component, the three DNA-binding domains of HMG I-C have now been expressed in transgenic mice.					No annotation					
2089	10747931	3	Despite the ubiquitous expression of the truncated HMG I-C protein, the transgenic mice develop a selective abundance of fat tissue early in life, show marked adipose tissue inflammation, and have an abnormally high incidence of lipomas.	175	186	12	inflammation	textual	C0021368	Inflammation			
2090	10747931	4	These findings demonstrate that the DNA-binding domains of HMG I-C, in the absence of a C-terminal fusion partner, are sufficient to perturb adipogenesis and predispose to lipomas.	173	179	7	lipomas	textual	C0023798	Lipoma			
2091	10747931	5	We provide data supporting the central utility of this animal model as a tool to understand the molecular mechanisms underlying the development of one of the most common kind of human benign tumors..	185	197	13	benign tumors	textual	C0086692	Benign Neoplasm			
2092	10766245	2	The ATM gene encodes a protein kinase that is activated by ionizing radiation or radiomimetic drugs, whereas p95/nbs1 is part of a protein complex that is involved in responses to DNA double-strand breaks.					No annotation					
2093	10766245	3	Here, because of the similarities between AT and NBS, we evaluated the functional interactions between ATM and p95/nbs1.	43	44	2	AT	intuitive - abstract defines AT as Ataxia Telangiectasia, a query of AT yields annotated code and 7 others	C0004135	Ataxia Telangiectasia			
2093	10766245	3	Here, because of the similarities between AT and NBS, we evaluated the functional interactions between ATM and p95/nbs1.	50	52	3	NBS	intuitive - abstract defines NBS as Nijmegen Breakage Syndrome, a query of NBS yields annotated code and 5 others	C0398791	Nijmegen Breakage Syndrome			
2094	10766245	4	Activation of the ATM kinase by ionizing radiation and induction of ATM-dependent responses in NBS cells indicated that p95/nbs1 may not be required for signalling to ATM after ionizing radiation.	96	98	3	NBS	intuitive - abstract defines NBS as Nijmegen Breakage Syndrome, a query of NBS yields annotated code and 5 others	C0398791	Nijmegen Breakage Syndrome			
2095	10766245	5	However, p95/nbs1 was phosphorylated on serine 343 in an ATM-dependent manner in vitro and in vivo after ionizing radiation.					No annotation					
2096	10766245	6	A p95/nbs1 construct mutated at the ATM phosphorylation site abrogated an S-phase checkpoint induced by ionizing radiation in normal cells and failed to compensate for this functional deficiency in NBS cells.	199	201	3	NBS	intuitive - abstract defines NBS as Nijmegen Breakage Syndrome, a query of NBS yields annotated code and 5 others	C0398791	Nijmegen Breakage Syndrome			
2097	10766245	7	These observations link ATM and p95/nbs1 in a common signalling pathway and provide an explanation for phenotypic similarities in these two diseases..					No annotation					
2098	10767313	1	Fragile X syndrome, a common form of inherited mental retardation, is mainly caused by massive expansion of CGG triplet repeats located in the 5'-untranslated region of the fragile X mental retardation-1 ( FMR1 ) gene.	1	18	18	Fragile X syndrome	textual	C0016667	Fragile X Syndrome			
2098	10767313	1	Fragile X syndrome, a common form of inherited mental retardation, is mainly caused by massive expansion of CGG triplet repeats located in the 5'-untranslated region of the fragile X mental retardation-1 ( FMR1 ) gene.	48	65	18	mental retardation	textual	C0025362	Mental Retardation			
2099	10767313	2	In patients with fragile X syndrome, the expanded CGG triplet repeats are hypermethylated and the expression of the FMR1 gene is repressed, which leads to the absence of FMR1 protein (FMRP) and subsequent mental retardation.	18	35	18	fragile X syndrome	textual	C0016667	Fragile X Syndrome			
2099	10767313	2	In patients with fragile X syndrome, the expanded CGG triplet repeats are hypermethylated and the expression of the FMR1 gene is repressed, which leads to the absence of FMR1 protein (FMRP) and subsequent mental retardation.	206	223	18	mental retardation	textual	C0025362	Mental Retardation			
2100	10767313	3	FMRP is an RNA-binding protein that shuttles between the nucleus and cytoplasm.					No annotation					
2101	10767313	4	This protein has been implicated in protein translation as it is found associated with polyribosomes and the rough endoplasmic reticulum.					No annotation					
2102	10767313	5	We discuss here the recent progress made towards understanding the molecular mechanism of CGG repeat expansion and physiological function(s) of FMRP.					No annotation					
2103	10767313	6	These studies will not only help to illuminate the molecular basis of the general class of human diseases with trinucleotide repeat expansion but also provide an avenue to understand aspects of human cognition and intelligence..					No annotation					
2104	10767326	1	Anterior segment developmental disorders, including Axenfeld-Rieger anomaly (ARA), variably associate with harmfully elevated intraocular pressure (IOP), which causes glaucoma.	78	80	3	ARA	Does not yield code that is suitable					
2104	10767326	1	Anterior segment developmental disorders, including Axenfeld-Rieger anomaly (ARA), variably associate with harmfully elevated intraocular pressure (IOP), which causes glaucoma.	1	40	40	Anterior segment developmental disorders	Could not find suitable UMLS code					
2104	10767326	1	Anterior segment developmental disorders, including Axenfeld-Rieger anomaly (ARA), variably associate with harmfully elevated intraocular pressure (IOP), which causes glaucoma.	53	75	23	Axenfeld-Rieger anomaly	Could not find suitable UMLS code					
2104	10767326	1	Anterior segment developmental disorders, including Axenfeld-Rieger anomaly (ARA), variably associate with harmfully elevated intraocular pressure (IOP), which causes glaucoma.	118	146	29	elevated intraocular pressure	textual	C0234708	Raised intraocular pressure			
2104	10767326	1	Anterior segment developmental disorders, including Axenfeld-Rieger anomaly (ARA), variably associate with harmfully elevated intraocular pressure (IOP), which causes glaucoma.	168	175	8	glaucoma	textual	C0017601	Glaucoma			
2105	10767326	10	Despite the abnormalities in ocular drainage structures in Foxc1 (+/-)mice, IOP was normal in almost all mice analyzed, on all genetic backgrounds and at all ages.	13	55	43	abnormalities in ocular drainage structures	*Could not find suitable UMLS code					
2106	10767326	11	Similar abnormalities were found in Foxc2 (+/-)mice, but no disease-associated mutations were identified in the human homolog FKHL14 in 32 ARA patients.					*					
2107	10767326	12	Foxc1 (+/-)and Foxc2 (+/-)mice are useful models for studying anterior segment development and its anomalies, and may allow identification of genes that interact with Foxc1 and Foxc2 (or FKHL7 and FKHL14 ) to produce a phenotype with elevated IOP and glaucoma..	252	259	8	glaucoma	textual	C0017601	Glaucoma			
2108	10767326	2	Clinically observed dysgenesis does not correlate with IOP, however, and the etiology of glaucoma development is not understood.	90	97	8	glaucoma	textual	C0017601	Glaucoma			
2109	10767326	3	The forkhead transcription factor genes Foxc1 (formerly Mf1 ) and Foxc2 (formerly Mfh1 ) are expressed in the mesenchyme from which the ocular drainage structures derive.					No annotation					
2110	10767326	4	Mutations in the human homolog of Foxc1, FKHL7, cause dominant anterior segment defects and glaucoma in various families.	64	87	24	anterior segment defects	Could not find suitable UMLS code					
2110	10767326	4	Mutations in the human homolog of Foxc1, FKHL7, cause dominant anterior segment defects and glaucoma in various families.	93	100	8	glaucoma	textual	C0017601	Glaucoma			
2111	10767326	5	We show that Foxc1 (+/-)mice have anterior segment abnormalities similar to those reported in human patients.	35	64	30	anterior segment abnormalities	Could not find suitable UMLS code					
2112	10767326	6	These abnormalities include small or absent Schlemm's canal, aberrantly developed trabecular meshwork, iris hypoplasia, severely eccentric pupils and displaced Schwalbe's line.	38	59	22	absent Schlemm's canal	Could not find suitable UMLS code					
2112	10767326	6	These abnormalities include small or absent Schlemm's canal, aberrantly developed trabecular meshwork, iris hypoplasia, severely eccentric pupils and displaced Schwalbe's line.	62	101	40	aberrantly developed trabecular meshwork	Could not find suitable UMLS code					
2112	10767326	6	These abnormalities include small or absent Schlemm's canal, aberrantly developed trabecular meshwork, iris hypoplasia, severely eccentric pupils and displaced Schwalbe's line.	104	118	15	iris hypoplasia	textual	C0344539	Hypoplasia of iris			
2112	10767326	6	These abnormalities include small or absent Schlemm's canal, aberrantly developed trabecular meshwork, iris hypoplasia, severely eccentric pupils and displaced Schwalbe's line.	130	145	16	eccentric pupils	Could not find suitable UMLS code					
2112	10767326	6	These abnormalities include small or absent Schlemm's canal, aberrantly developed trabecular meshwork, iris hypoplasia, severely eccentric pupils and displaced Schwalbe's line.	151	175	25	displaced Schwalbe's line	Could not find suitable UMLS code					
2113	10767326	7	The penetrance of clinically obvious abnormalities varies with genetic background.					No annotation					
2114	10767326	8	In some affected eyes, collagen bundles were half normal diameter, or collagen and elastic tissue were very sparse.	24	65	42	collagen bundles were half normal diameter	*					
2114	10767326	8	In some affected eyes, collagen bundles were half normal diameter, or collagen and elastic tissue were very sparse.	71	114	44	collagen and elastic tissue were very sparse	*					
2114	10767326	8	In some affected eyes, collagen bundles were half normal diameter, or collagen and elastic tissue were very sparse.	84	114	31	elastic tissue were very sparse	*					
2115	10767326	9	Thus, abnormalities in extracellular matrix synthesis or organization may contribute to development of the ocular phenotypes.	7	43	37	abnormalities in extracellular matrix	*					
2116	10767339	1	Fragile X syndrome is a common cause of mental retardation involving loss of expression of the FMR1 gene.	1	18	18	Fragile X syndrome	textual	C0016667	Fragile X Syndrome			
2116	10767339	1	Fragile X syndrome is a common cause of mental retardation involving loss of expression of the FMR1 gene.	41	58	18	mental retardation	textual	C0025362	Mental Retardation			
2117	10767339	10	FMR1 YAC transgenic mice overexpressing the human protein did produce opposing behavioral responses and additional abnormal behaviors were also observed.	116	133	18	abnormal behaviors	textual	C0233514	Abnormal behavior			
2118	10767339	11	These findings have significant implications for gene therapy for fragile X syndrome since overexpression of the gene may harbor its own phenotype..	67	84	18	fragile X syndrome	textual	C0016667	Fragile X Syndrome			
2119	10767339	2	The role of FMR1 remains undetermined but the protein appears to be involved in RNA metabolism.					No annotation					
2120	10767339	3	Fmr1 knockout mice exhibit a phenotype with some similarities to humans, such as macroorchidism and behavioral abnormalities.	82	95	14	macroorchidism	textual	C1263023	Macroorchidism			
2120	10767339	3	Fmr1 knockout mice exhibit a phenotype with some similarities to humans, such as macroorchidism and behavioral abnormalities.	101	124	24	behavioral abnormalities	textual - does not yield annotated code	C0233514	Abnormal behavior			
2121	10767339	4	As a step toward understanding the function of FMR1 and the determination of the potential for therapeutic approaches to fragile X syndrome, yeast artificial chromosome (YAC) transgenic mice were generated in order to determine whether the Fmr1 knockout mouse phenotype could be rescued.	122	139	18	fragile X syndrome	textual	C0016667	Fragile X Syndrome			
2122	10767339	5	Several transgenic lines were generated that carried the entire FMR1 locus with extensive amounts of flanking sequence.					No annotation					
2123	10767339	6	We observed that the YAC transgene supported production of the human protein (FMRP) which was present at levels 10 to 15 times that of endogenous protein and was expressed in a cell- and tissue-specific manner.					No annotation					
2124	10767339	7	Macro-orchidism was absent in knockout mice carrying the YAC transgene indicating functional rescue by the human protein.	1	15	15	Macro-orchidism	textual - does not yield annotated code, must remove hyphen	C1263023	Macroorchidism			
2125	10767339	8	Given the complex behavioral phenotype in fragile X patients and the mild phenotype previously reported for the Fmr1 knockout mouse, we performed a more thorough evaluation of the Fmr1 knockout phenotype using additional behavioral assays that had not previously been reported for this animal model.	43	51	9	fragile X	intuitive - text is referring to patients with "fragile X syndrome" a query of fragile X does not yield annotated code	C0016667	Fragile X Syndrome			
2126	10767339	9	The mouse displayed reduced anxiety-related responses with increased exploratory behavior.					No annotation					
2127	10767343	2	A very high level of instability is observed through successive generations and the size of the repeat is generally correlated with the severity of the disease and with age at onset.					No annotation					
2128	10767343	3	Furthermore, tissues from DM patients exhibit somatic mosaicism that increases with age.	27	28	2	DM	Intuitve - abstract defines DM as "Myotonic dystrophy"	C0027126	Myotonic Dystrophy			
2128	10767343	3	Furthermore, tissues from DM patients exhibit somatic mosaicism that increases with age.	47	63	17	somatic mosaicism	textual	C1866227	Somatic mosaicism			
2129	10767343	4	We generated transgenic mice carrying large human genomic sequences with 20, 55 or >300 CTG, cloned from patients from the same affected DM family.	138	139	2	DM	Intuitve - abstract defines DM as "Myotonic dystrophy"	C0027126	Myotonic Dystrophy			
2130	10767343	5	Using large human flanking sequences and a large amplification, we demonstrate that the intergenerational CTG repeat instability is reproduced in mice, with a strong bias towards expansions and with the same sex- and size-dependent characteristics as in humans.					No annotation					
2131	10767343	6	Moreover, a high level of instability, increasing with age, can be observed in tissues and in sperm.					No annotation					
2132	10767343	7	Although we did not observe dramatic expansions (or 'big jumps' over several hundred CTG repeats) as in congenital forms of DM, our model carrying >300 CTG is the first to show instability so close to the human DM situation.	125	126	2	DM	Intuitve - abstract defines DM as "Myotonic dystrophy"	C0027126	Myotonic Dystrophy			
2132	10767343	7	Although we did not observe dramatic expansions (or 'big jumps' over several hundred CTG repeats) as in congenital forms of DM, our model carrying >300 CTG is the first to show instability so close to the human DM situation.	105	126	22	congenital forms of DM	intuitive - text is referring to the congenital form of myotonic dystrophy	C0410226	Myotonic Dystrophy, Congenital			
2133	10767343	8	Our three models carrying different sizes of CTG repeat provide insight on the different factors modulating the CTG repeat instability..					No annotation					
2134	10767347	1	Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in almost all cases by homozygous intronic expansions resulting in the loss of frataxin, a mitochondrial protein conserved through evolution, and involved in mitochondrial iron homeostasis.	20	23	4	FRDA	textual -  yields alternative code	C0016719	Friedreich Ataxia	C1856689 FRIEDREICH ATAXIA 1		
2134	10767347	1	Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in almost all cases by homozygous intronic expansions resulting in the loss of frataxin, a mitochondrial protein conserved through evolution, and involved in mitochondrial iron homeostasis.	1	17	17	Friedreich ataxia	textual - yields annotated code. Included is a possible alternative	C0016719	Friedreich Ataxia	C1856689 FRIEDREICH ATAXIA 1		
2134	10767347	1	Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in almost all cases by homozygous intronic expansions resulting in the loss of frataxin, a mitochondrial protein conserved through evolution, and involved in mitochondrial iron homeostasis.	43	68	26	autosomal recessive ataxia	intuitive - implies an hereditary ataxia	C0004138	Ataxias, Hereditary			
2135	10767347	2	Yeast knockout models, and histological and biochemical data from patient heart biopsies or autopsies indicate that the frataxin defect causes a specific iron-sulfur protein deficiency and mitochondrial iron accumulation leading to the pathological changes.	155	184	30	iron-sulfur protein deficiency	*					
2135	10767347	2	Yeast knockout models, and histological and biochemical data from patient heart biopsies or autopsies indicate that the frataxin defect causes a specific iron-sulfur protein deficiency and mitochondrial iron accumulation leading to the pathological changes.	190	220	31	mitochondrial iron accumulation	*					
2136	10767347	3	Affected human tissues are rarely available to further examine this hypothesis.					No annotation					
2138	10767347	5	We show that homozygous deletions cause embryonic lethality a few days after implantation, demonstrating an important role for frataxin during early development.					No annotation					
2139	10767347	6	These results suggest that the milder phenotype in humans is due to residual frataxin expression associated with the expansion mutations.					No annotation					
2140	10767347	7	Surprisingly, in the frataxin knockout mouse, no iron accumulation was observed during embryonic resorption, suggesting that cell death could be due to a mechanism independent of iron accumulation..					No annotation					
2141	10777718	10	Coalescence analyses for the N370S and 84GG mutations estimated similar coalescence times, of 48 and 55.5 generations ago, respectively.					No annotation					
2142	10777718	11	The results of these studies are consistent with a significant bottleneck occurring in the AJ population during the first millennium, when the population became established in Europe..					No annotation					
2143	10777718	2	Type 1 disease is panethnic but is more prevalent in individuals of Ashkenazi Jewish (AJ) descent.	1	14	14	Type 1 disease	intuitive - text is referring to "Type 1 Gaucher disease"	C1961835	Gaucher Disease, Type 1			
2144	10777718	3	Of the causative GBA mutations, N370S is particularly frequent in the AJ population, (q approximately .03), whereas the 84GG insertion (q approximately .003) occurs exclusively in the Ashkenazim.					No annotation					
2145	10777718	4	To investigate the genetic history of these mutations in the AJ population, short tandem repeat (STR) markers were used to map a 9.3-cM region containing the GBA locus and to genotype 261 AJ N370S chromosomes, 60 European non-Jewish N370S chromosomes, and 62 AJ 84GG chromosomes.					No annotation					
2146	10777718	5	A highly conserved haplotype at four markers flanking GBA (PKLR, D1S1595, D1S2721, and D1S2777) was observed on both the AJ chromosomes and the non-Jewish N370S chromosomes, suggesting the occurrence of a founder common to both populations.					No annotation					
2147	10777718	6	Of note, the presence of different divergent haplotypes suggested the occurrence of de novo, recurrent N370S mutations.					No annotation					
2148	10777718	7	In contrast, a different conserved haplotype at these markers was identified on the 84GG chromosomes, which was unique to the AJ population.					No annotation					
2149	10777718	8	On the basis of the linkage disequilibrium (LD) delta values, the non-Jewish European N370S chromosomes had greater haplotype diversity and less LD at the markers flanking the conserved haplotype than did the AJ N370S chromosomes.					No annotation					
2150	10777718	9	This finding is consistent with the presence of the N370S mutation in the non-Jewish European population prior to the founding of the AJ population.					No annotation					
2151	107868	1	One hundred and twenty-eight of 145 patients with ankylosing spondylitis (AS) were found to be HLA B27 positive.	75	76	2	AS	textual - does not yield annotated code	C0038013	Ankylosing spondylitis			
2151	107868	1	One hundred and twenty-eight of 145 patients with ankylosing spondylitis (AS) were found to be HLA B27 positive.	51	72	22	ankylosing spondylitis	textual	C0038013	Ankylosing spondylitis			
2152	107868	2	Five patients had evidence of a sero-negative peripheral arthritis resembling peripheral psoriatic arthritis and 3 of these were B27 negative.	33	66	34	sero-negative peripheral arthritis	textual	C0409679	Seronegative arthritis			
2152	107868	2	Five patients had evidence of a sero-negative peripheral arthritis resembling peripheral psoriatic arthritis and 3 of these were B27 negative.	90	108	19	psoriatic arthritis	textual	C0003872	Arthritis, Psoriatic			
2153	107868	3	One further B27 negative patients had a sister with ankylosing spondylitis and ulcerative colitis and a mother with ulcerative colitis.	53	74	22	ankylosing spondylitis	textual	C0038013	Ankylosing spondylitis			
2153	107868	3	One further B27 negative patients had a sister with ankylosing spondylitis and ulcerative colitis and a mother with ulcerative colitis.	80	97	18	ulcerative colitis	textual	C0009324	Ulcerative Colitis			
2153	107868	3	One further B27 negative patients had a sister with ankylosing spondylitis and ulcerative colitis and a mother with ulcerative colitis.	117	134	18	ulcerative colitis	textual	C0009324	Ulcerative Colitis			
2154	107868	4	There was evidence of a somewhat later age of onset of symptoms in B27 negative patients.					No annotation					
2155	107868	6	Twenty-five first-degree relatives with ankylosing spondylitis were all B27 positive.	41	62	22	ankylosing spondylitis	textual	C0038013	Ankylosing spondylitis			
2156	107868	7	The only instance of disassociation of B27 and spondylitis in a family was where the proband had ulcerative colitis as well as spondylitis.	48	58	11	spondylitis	intuitive - appears to be in reference to ankylosing spondylitis	C0038013	Ankylosing spondylitis			
2156	107868	7	The only instance of disassociation of B27 and spondylitis in a family was where the proband had ulcerative colitis as well as spondylitis.	98	115	18	ulcerative colitis	textual	C0009324	Ulcerative Colitis			
2156	107868	7	The only instance of disassociation of B27 and spondylitis in a family was where the proband had ulcerative colitis as well as spondylitis.	128	138	11	spondylitis	intuitive - appears to be in reference to ankylosing spondylitis	C0038013	Ankylosing spondylitis			
2157	107868	9	These findings are thought to provide evidence against the concept that the gene for ankylosing spondylitis is not B27 but a closely linked gene and favour the occurrence of an environmental event affecting approximately one-fifth of B27 positive males to result in disease..	86	107	22	ankylosing spondylitis	textual	C0038013	Ankylosing spondylitis			
2158	10788334	1	We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population.					No annotation					
2159	10788334	10	Seven distinct mutations were identified; five of these occurred in two or more families.					No annotation					
2160	10788334	11	In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations.					No annotation					
2161	10788334	12	Three BRCA1 abnormalities-5382insC, C61G, and 4153delA-accounted for 51%, 20%, and 11% of the identified mutations, respectively..					No annotation					
2162	10788334	2	The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age <50 years.	54	59	6	cancer	textual - yields annotated codes, however, also yields 2 others	C0006826,C1306459 	Malignant Neoplasms, Primary malignant neoplasm			
2162	10788334	2	The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age <50 years.	115	138	24	breast or ovarian cancer	intuitive - list is present, a query of "breast cancer" yields annotated codes	C0678222, C0006142	Breast Carcinoma, Malignant neoplasm of breast			
2162	10788334	2	The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age <50 years.	125	138	14	ovarian cancer	textual	C1140680, C0029925	Malignant neoplasm of ovary, Ovarian Carcinoma			
2162	10788334	2	The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age <50 years.	133	138	6	cancer	textual - yields annotated codes, however, also yields 2 others	C0006826,C1306459 	Malignant Neoplasms, Primary malignant neoplasm			
2163	10788334	3	A total of 26 families had both breast and ovarian cancers, 4 families had ovarian cancers only, and 36 families had breast cancers only.	33	58	26	breast and ovarian cancers	intuitive - list is present, a query of "breast cancer" yields annotated codes	C0678222, C0006142	Breast Carcinoma, Malignant neoplasm of breast			
2163	10788334	3	A total of 26 families had both breast and ovarian cancers, 4 families had ovarian cancers only, and 36 families had breast cancers only.	44	58	15	ovarian cancers	textual	C1140680, C0029925	Malignant neoplasm of ovary, Ovarian Carcinoma			
2163	10788334	3	A total of 26 families had both breast and ovarian cancers, 4 families had ovarian cancers only, and 36 families had breast cancers only.	76	90	15	ovarian cancers	textual	C1140680, C0029925	Malignant neoplasm of ovary, Ovarian Carcinoma			
2163	10788334	3	A total of 26 families had both breast and ovarian cancers, 4 families had ovarian cancers only, and 36 families had breast cancers only.	118	131	14	breast cancers	textual	C0678222, C0006142	Breast Carcinoma, Malignant neoplasm of breast			
2164	10788334	4	Genomic DNA was prepared from the peripheral blood leukocytes of at least one affected woman from each family.					No annotation					
2165	10788334	5	The entire coding region of BRCA1 and BRCA2 was screened for the presence of germline mutations, by use of SSCP followed by direct sequencing of observed variants.					No annotation					
2166	10788334	6	Mutations were found in 35 (53%) of the 66 families studied.					No annotation					
2167	10788334	7	All but one of the mutations were detected within the BRCA1 gene.					No annotation					
2168	10788334	9	The single family with a BRCA2 mutation had the breast-ovarian cancer syndrome.	49	69	21	breast-ovarian cancer	intuitive - list is present, a query of "breast cancer" yields annotated codes	C0678222, C0006142	Breast Carcinoma, Malignant neoplasm of breast			
2168	10788334	9	The single family with a BRCA2 mutation had the breast-ovarian cancer syndrome.	56	69	14	ovarian cancer	textual	C1140680, C0029925	Malignant neoplasm of ovary, Ovarian Carcinoma			
2169	10790204	1	Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is a life-threatening disorder of mitochondrial fatty acid beta-oxidation.	1	57	57	Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency	textual - a query of "Very long chain acyl-CoA dehydrogenase deficiency" yields annotated code	C0342784	Very long chain acyl-CoA dehydrogenase deficiency			
2169	10790204	1	Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is a life-threatening disorder of mitochondrial fatty acid beta-oxidation.	40	57	18	(VLCAD) deficiency	textual - a query of VLCAD deficiency yields annotated code	C0342784	Very long chain acyl-CoA dehydrogenase deficiency			
2170	10790204	10	This is an example of an exonic mutation which affects exon-splicing..					No annotation					
2171	10790204	2	We identified four novel mutations in three unrelated patients.					No annotation					
2172	10790204	4	Immunoblot analysis revealed that VLCAD protein was undetectable in patients 2 and 3, whereas normal-size VLCAD protein and an aberrant form of VLCAD (4kDa smaller) were detected in patient 1.					No annotation					
2173	10790204	5	As expected, null mutations were found in patients 2 and 3: patient 2 is homozygous for a frameshift mutation, del 4 bp at 798-801, and patient 3 is homozygous for a nonsense mutation 65C>A S22X.					No annotation					
2174	10790204	6	Patient 1 was homozygous for a complex mutant allele containing two alterations, including a 194C>T transition (P65L) and 739A>C transversion (K247Q); in the case of P65L, the amino acid change does not reduce enzyme activity.					No annotation					
2175	10790204	7	However, the nucleotide change resulted in exon 3 skipping, whereas the latter K247Q mutation had a drastic effect on enzyme activity.					No annotation					
2176	10790204	8	We verified these events by in vivo splicing experiments and transient expression analysis of mutant cDNAs.					No annotation					
2177	10790204	9	The P65L mutation locates 11 bases upstream of a splice donor site of intron 3.					No annotation					
2178	10797418	1	The Prader-Willi syndrome (PWS) critical region on 15q11-q13 is subject to imprinting.	5	25	21	Prader-Willi syndrome	textual	C0032897	Prader-Willi Syndrome			
2179	10797418	10	This represents a unique inheritance pattern due to imprinting..					No annotation					
2180	10797418	2	PWS becomes apparent when genes on the paternally inherited chromosome are not expressed.	1	3	3	PWS	textual	C0032897	Prader-Willi Syndrome			
2181	10797418	4	We report on a family in which a male and a female paternal first cousin both have PWS with cytogenetically normal karyotypes.	84	86	3	PWS	textual	C0032897	Prader-Willi Syndrome			
2182	10797418	5	Fluorescence in situ hybridization (FISH) analysis shows a submicroscopic deletion of SNRPN, but not the closely associated loci D15S10, D15S11, D15S63, and GABRB3.					No annotation					
2183	10797418	6	The cousins' fathers and two paternal aunts have the same deletion and are clinically normal.					No annotation					
2184	10797418	7	The grandmother of the cousins is deceased and not available for study, and their grandfather is not deleted for SNRPN.					No annotation					
2185	10797418	8	DNA methylation analysis of D15S63 is consistent with an abnormality of the imprinting center associated with PWS. Grandmatrilineal" inheritance occurs when a woman with deletion of an imprinted	111	113	3	PWS	textual	C0032897	Prader-Willi Syndrome			
2186	10797418	9	In this case, PWS does not become evident as long as the deletion is passed through the matrilineal line.	15	17	3	PWS	textual	C0032897	Prader-Willi Syndrome			
2187	10798358	1	Mutations in the glycine decarboxylase gene (GLDC) cause nonketotic hyperglycinemia (NKH), an in-born error of metabolism characterized by severe neurological disturbance.	86	88	3	NKH	textual - yields annotated code and 2 others	C0751748	Nonketotic Hyperglycinemia			
2187	10798358	1	Mutations in the glycine decarboxylase gene (GLDC) cause nonketotic hyperglycinemia (NKH), an in-born error of metabolism characterized by severe neurological disturbance.	58	83	26	nonketotic hyperglycinemia	textual	C0751748	Nonketotic Hyperglycinemia			
2187	10798358	1	Mutations in the glycine decarboxylase gene (GLDC) cause nonketotic hyperglycinemia (NKH), an in-born error of metabolism characterized by severe neurological disturbance.	95	121	27	in-born error of metabolism	textual - must remove the "-" to yield annotated code	C0025521	Inborn Errors of Metabolism			
2187	10798358	1	Mutations in the glycine decarboxylase gene (GLDC) cause nonketotic hyperglycinemia (NKH), an in-born error of metabolism characterized by severe neurological disturbance.	147	170	24	neurological disturbance	*					
2188	10798358	10	These results suggest a large homozygous deletion (at least 30 kb) in the patient.					No annotation					
2189	10798358	11	Furthermore, we have devised a semi-quantitative PCR to estimate the number of GLDC alleles by using psiGLDC as an internal control and have confirmed the homozygosity and heterozygosity of the deletion in the patient and his parents, respectively.					No annotation					
2190	10798358	12	Structural information of GLDC and psiGLDC should facilitate the molecular analysis of NKH..	88	90	3	NKH	intuitive - abstract defines NKH as "nonketotic hyperglycinemia" a query of NKH yields annotated code and 2 others	C0751748	Nonketotic Hyperglycinemia			
2191	10798358	2	We have determined the structure of GLDC and of its pseudogene (psiGLDC) and studied their expression for a molecular analysis of NKH.	131	133	3	NKH	intuitive - abstract defines NKH as "nonketotic hyperglycinemia" a query of NKH yields annotated code and 2 others	C0751748	Nonketotic Hyperglycinemia			
2192	10798358	3	The GLDC gene spans at least 135 kb and consists of 25 exons.					No annotation					
2193	10798358	4	All donor and acceptor sites adhere to the canonical GT-AG rule, except for the donor site of intron 21, where a variant form GC is used instead of GT.					No annotation					
2194	10798358	5	The transcription initiation site has been assigned to a residue 163 bp upstream from the translation initiation triplet by primer extension analysis.					No annotation					
2195	10798358	6	The psiGLDC gene has no intron and shares 97.5% homology with the coding region of functional GLDC, suggesting that psiGLDC is a processed pseudogene that arose from the GLDC transcript about 4-8 million years ago.					No annotation					
2196	10798358	7	RNA blotting analysis has revealed that GLDC is expressed in human liver, kidney, brain, and placenta.					No annotation					
2197	10798358	8	We have also examined a patient with NKH with no detectable GLDC mRNA in his lymphoblasts.	38	40	3	NKH	intuitive - abstract defines NKH as "nonketotic hyperglycinemia" a query of NKH yields annotated code and 2 others	C0751748	Nonketotic Hyperglycinemia			
2198	10798358	9	Exons 1-3 of the functional GLDC gene from this patient are not amplified by polymerase chain reaction (PCR), whereas those from control subjects are.					No annotation					
2199	10802660	1	Prader-Willi syndrome (PWS) is a neurogenetic disease characterized by infantile hypotonia, gonadal hypoplasia, obsessive behaviour and neonatal feeding difficulties followed by hyperphagia, leading to profound obesity.	24	26	3	PWS	textual	C0032897	Prader-Willi Syndrome			
2199	10802660	1	Prader-Willi syndrome (PWS) is a neurogenetic disease characterized by infantile hypotonia, gonadal hypoplasia, obsessive behaviour and neonatal feeding difficulties followed by hyperphagia, leading to profound obesity.	1	21	21	Prader-Willi syndrome	textual	C0032897	Prader-Willi Syndrome			
2199	10802660	1	Prader-Willi syndrome (PWS) is a neurogenetic disease characterized by infantile hypotonia, gonadal hypoplasia, obsessive behaviour and neonatal feeding difficulties followed by hyperphagia, leading to profound obesity.	34	53	20	neurogenetic disease	Could not find suitable UMLS code					
2199	10802660	1	Prader-Willi syndrome (PWS) is a neurogenetic disease characterized by infantile hypotonia, gonadal hypoplasia, obsessive behaviour and neonatal feeding difficulties followed by hyperphagia, leading to profound obesity.	82	90	9	hypotonia	textual	C0026827	Muscle hypotonia			
2199	10802660	1	Prader-Willi syndrome (PWS) is a neurogenetic disease characterized by infantile hypotonia, gonadal hypoplasia, obsessive behaviour and neonatal feeding difficulties followed by hyperphagia, leading to profound obesity.	93	110	18	gonadal hypoplasia	textual	C0239761	GONADAL HYPOPLASIA			
2199	10802660	1	Prader-Willi syndrome (PWS) is a neurogenetic disease characterized by infantile hypotonia, gonadal hypoplasia, obsessive behaviour and neonatal feeding difficulties followed by hyperphagia, leading to profound obesity.	113	131	19	obsessive behaviour	* textual	C0028765	Obsessive Behavior			
2199	10802660	1	Prader-Willi syndrome (PWS) is a neurogenetic disease characterized by infantile hypotonia, gonadal hypoplasia, obsessive behaviour and neonatal feeding difficulties followed by hyperphagia, leading to profound obesity.	137	165	29	neonatal feeding difficulties	textual	C1832087	Neonatal feeding difficulties			
2199	10802660	1	Prader-Willi syndrome (PWS) is a neurogenetic disease characterized by infantile hypotonia, gonadal hypoplasia, obsessive behaviour and neonatal feeding difficulties followed by hyperphagia, leading to profound obesity.	179	189	11	hyperphagia	textual	C0020505	Hyperphagia			
2199	10802660	1	Prader-Willi syndrome (PWS) is a neurogenetic disease characterized by infantile hypotonia, gonadal hypoplasia, obsessive behaviour and neonatal feeding difficulties followed by hyperphagia, leading to profound obesity.	212	218	7	obesity	textual - yields annotated code and 1 other	C0028754	Obesity			
2200	10802660	2	PWS is due to a lack of paternal genetic information at 15q11-q13 ref. 2.	1	3	3	PWS	textual	C0032897	Prader-Willi Syndrome			
2202	10802660	4	Imprinting of this region involves a bipartite 'imprinting centre' (IC), which overlaps SNRPN refs 10,11.					No annotation					
2203	10802660	5	Deletion of the SNRPN promoter/exon 1 region (the PWS IC element) appears to impair the establishment of the paternal imprint in the male germ line and leads to PWS.	162	164	3	PWS	textual	C0032897	Prader-Willi Syndrome			
2204	10802660	6	Here we report a PWS family in which the father is mosaic for an IC deletion on his paternal chromosome.	18	20	3	PWS	textual	C0032897	Prader-Willi Syndrome			
2205	10802660	7	The deletion chromosome has acquired a maternal methylation imprint in his somatic cells.					No annotation					
2206	10802660	8	We have made identical findings in chimaeric mice generated from two independent embryonic stem (ES) cell lines harbouring a similar deletion.					No annotation					
2208	10802667	3	We, and others, have demonstrated that repeat expansion decreases expression of the adjacent gene SIX5 (refs 7,8), which encodes a homeodomain transcription factor.					No annotation					
2209	10802667	4	To determine whether SIX5 deficiency contributes to the myotonic dystrophy phenotype, we disrupted mouse Six5 by replacing the first exon with a beta-galactosidase reporter.	22	36	15	SIX5 deficiency	*					
2209	10802667	4	To determine whether SIX5 deficiency contributes to the myotonic dystrophy phenotype, we disrupted mouse Six5 by replacing the first exon with a beta-galactosidase reporter.	57	74	18	myotonic dystrophy	textual	C0027126	Myotonic Dystrophy			
2210	10802667	5	Six5-mutant mice showed reporter expression in multiple tissues, including the developing lens.					No annotation					
2211	10802667	6	Homozygous mutant mice had no apparent abnormalities of skeletal muscle function, but developed lenticular opacities at a higher rate than controls.	40	80	41	abnormalities of skeletal muscle function	Could not find suitable UMLS code					
2211	10802667	6	Homozygous mutant mice had no apparent abnormalities of skeletal muscle function, but developed lenticular opacities at a higher rate than controls.	97	116	20	lenticular opacities	textual	C1510497	Lens Opacities			
2212	10802667	7	Our results suggest that SIX5 deficiency contributes to the cataract phenotype in myotonic dystrophy, and that myotonic dystrophy represents a multigenic disorder..	26	40	15	SIX5 deficiency	*					
2212	10802667	7	Our results suggest that SIX5 deficiency contributes to the cataract phenotype in myotonic dystrophy, and that myotonic dystrophy represents a multigenic disorder..	61	68	8	cataract	textual - yields annotated code and 1 other	C0086543	Cataract			
2212	10802667	7	Our results suggest that SIX5 deficiency contributes to the cataract phenotype in myotonic dystrophy, and that myotonic dystrophy represents a multigenic disorder..	83	100	18	myotonic dystrophy	textual	C0027126	Myotonic Dystrophy			
2212	10802667	7	Our results suggest that SIX5 deficiency contributes to the cataract phenotype in myotonic dystrophy, and that myotonic dystrophy represents a multigenic disorder..	112	129	18	myotonic dystrophy	textual	C0027126	Myotonic Dystrophy			
2212	10802667	7	Our results suggest that SIX5 deficiency contributes to the cataract phenotype in myotonic dystrophy, and that myotonic dystrophy represents a multigenic disorder..	144	162	19	multigenic disorder	Could not find suitable UMLS code					
2213	10802668	1	Myotonic dystrophy (DM) is an autosomal dominant disorder characterized by skeletal muscle wasting, myotonia, cardiac arrhythmia, hyperinsulinaemia, mental retardation and ocular cataracts.	21	22	2	DM	textual - yields annotated code and 8 others	C0027126	Myotonic Dystrophy			
2213	10802668	1	Myotonic dystrophy (DM) is an autosomal dominant disorder characterized by skeletal muscle wasting, myotonia, cardiac arrhythmia, hyperinsulinaemia, mental retardation and ocular cataracts.	1	18	18	Myotonic dystrophy	textual	C0027126	Myotonic Dystrophy			
2213	10802668	1	Myotonic dystrophy (DM) is an autosomal dominant disorder characterized by skeletal muscle wasting, myotonia, cardiac arrhythmia, hyperinsulinaemia, mental retardation and ocular cataracts.	31	57	27	autosomal dominant disorder	textual - must add "hereditary" to yield annotated code	C0265385	Autosomal dominant hereditary disorder			
2213	10802668	1	Myotonic dystrophy (DM) is an autosomal dominant disorder characterized by skeletal muscle wasting, myotonia, cardiac arrhythmia, hyperinsulinaemia, mental retardation and ocular cataracts.	85	98	14	muscle wasting	textual	C0026846	Muscular Atrophy			
2213	10802668	1	Myotonic dystrophy (DM) is an autosomal dominant disorder characterized by skeletal muscle wasting, myotonia, cardiac arrhythmia, hyperinsulinaemia, mental retardation and ocular cataracts.	101	108	8	myotonia	textual	C0027125	Myotonia			
2213	10802668	1	Myotonic dystrophy (DM) is an autosomal dominant disorder characterized by skeletal muscle wasting, myotonia, cardiac arrhythmia, hyperinsulinaemia, mental retardation and ocular cataracts.	111	128	18	cardiac arrhythmia	textual - yields annotated code and 1 other	C0003811	cardiac arrhythmia			
2213	10802668	1	Myotonic dystrophy (DM) is an autosomal dominant disorder characterized by skeletal muscle wasting, myotonia, cardiac arrhythmia, hyperinsulinaemia, mental retardation and ocular cataracts.	131	147	17	hyperinsulinaemia	textual	C0020459	Hyperinsulinism			
2213	10802668	1	Myotonic dystrophy (DM) is an autosomal dominant disorder characterized by skeletal muscle wasting, myotonia, cardiac arrhythmia, hyperinsulinaemia, mental retardation and ocular cataracts.	150	167	18	mental retardation	textual	C0025362	Mental Retardation			
2213	10802668	1	Myotonic dystrophy (DM) is an autosomal dominant disorder characterized by skeletal muscle wasting, myotonia, cardiac arrhythmia, hyperinsulinaemia, mental retardation and ocular cataracts.	180	188	9	cataracts	textual - yields annotated code and 1 other	C0086543	Cataract			
2214	10802668	10	Six5+/- and Six5-/- mice show increased steady-state levels of the Na+/K+-ATPase alpha-1 subunit and decreased Dm15 mRNA levels.					No annotation					
2215	10802668	11	Thus, altered ion homeostasis within the lens may contribute to cataract formation.	65	72	8	cataract	textual - yields annotated code and 1 other	C0086543	Cataract			
2216	10802668	12	As ocular cataracts are a characteristic feature of DM, these results demonstrate that decreased SIX5 transcription is important in the aetiology of DM.	53	54	2	DM	intuitive - abstract defines DM as "myotonic dystrophy"  a query of DM yields annotated code and 8 others	C0027126	Myotonic Dystrophy			
2216	10802668	12	As ocular cataracts are a characteristic feature of DM, these results demonstrate that decreased SIX5 transcription is important in the aetiology of DM.	150	151	2	DM	intuitive - abstract defines DM as "myotonic dystrophy"  a query of DM yields annotated code and 8 others	C0027126	Myotonic Dystrophy			
2216	10802668	12	As ocular cataracts are a characteristic feature of DM, these results demonstrate that decreased SIX5 transcription is important in the aetiology of DM.	11	19	9	cataracts	textual - yields annotated code and 1 other	C0086543	Cataract			
2217	10802668	13	Our data support the hypothesis that DM is a contiguous gene syndrome associated with the partial loss of both DMPK and SIX5..	38	39	2	DM	intuitive - abstract defines DM as "myotonic dystrophy"  a query of DM yields annotated code and 8 others	C0027126	Myotonic Dystrophy			
2217	10802668	13	Our data support the hypothesis that DM is a contiguous gene syndrome associated with the partial loss of both DMPK and SIX5..	46	69	24	contiguous gene syndrome	textual	C1855496	Contiguous gene syndrome			
2218	10802668	2	The genetic defect in DM is a CTG repeat expansion located in the 3' untranslated region of DMPK and 5' of a homeodomain-encoding gene, SIX5 formerly DMAHP; refs 2-5.	23	24	2	DM	intuitive - abstract defines DM as "myotonic dystrophy"  a query of DM yields annotated code and 8 others	C0027126	Myotonic Dystrophy			
2219	10802668	3	There are three mechanisms by which CTG expansion can result in DM.	65	66	2	DM	intuitive - abstract defines DM as "myotonic dystrophy"  a query of DM yields annotated code and 8 others	C0027126	Myotonic Dystrophy			
2220	10802668	4	First, repeat expansion may alter the processing or transport of the mutant DMPK mRNA and consequently reduce DMPK levels.					No annotation					
2221	10802668	5	Second, CTG expansion may establish a region of heterochromatin 3' of the repeat sequence and decrease SIX5 transcription.					No annotation					
2222	10802668	6	Third, toxic effects of the repeat expansion may be intrinsic to the repeated elements at the level of DNA or RNA refs 10,11.					No annotation					
2223	10802668	7	Previous studies have demonstrated that a dose-dependent loss of Dm15 (the mouse DMPK homologue) in mice produces a partial DM phenotype characterized by decreased development of skeletal muscle force and cardiac conduction disorders.	125	126	2	DM	intuitive - abstract defines DM as "myotonic dystrophy"  a query of DM yields annotated code and 8 others	C0027126	Myotonic Dystrophy			
2223	10802668	7	Previous studies have demonstrated that a dose-dependent loss of Dm15 (the mouse DMPK homologue) in mice produces a partial DM phenotype characterized by decreased development of skeletal muscle force and cardiac conduction disorders.	155	200	46	decreased development of skeletal muscle force	*	C0151786	Muscle Weakness			
2223	10802668	7	Previous studies have demonstrated that a dose-dependent loss of Dm15 (the mouse DMPK homologue) in mice produces a partial DM phenotype characterized by decreased development of skeletal muscle force and cardiac conduction disorders.	206	233	28	cardiac conduction disorders	textual	C0264886	Conduction disorder of the heart			
2224	10802668	8	To test the role of Six5 loss in DM, we have analysed a strain of mice in which Six5 was deleted.	34	35	2	DM	intuitive - abstract defines DM as "myotonic dystrophy"  a query of DM yields annotated code and 8 others	C0027126	Myotonic Dystrophy			
2225	10802668	9	Our results demonstrate that the rate and severity of cataract formation is inversely related to Six5 dosage and is temporally progressive.	55	62	8	cataract	textual - yields annotated code and 1 other	C0086543	Cataract			
2226	10802669	10	Phosphorylation of this site appears to be functionally important because mutated nibrin (S343A) does not completely complement radiosensitivity in NBS cells.	149	151	3	NBS	intuitive - NBS was defined as "Nijmegen Breakage Syndrome" in the abstract	C0398791	Nijmegen Breakage Syndrome			
2227	10802669	11	ATM phosphorylation of nibrin does not affect nibrin-MRE11-RAD50 association as revealed by radiation-induced foci formation.					No annotation					
2228	10802669	12	Our data provide a biochemical explanation for the similarity in phenotype between A-T and NBS..	84	86	3	A-T	intuitive - abstract defined A-T as "ataxia-telangiectasia" a query of A-T does not yield annotated code	C0004135	Ataxia Telangiectasia			
2228	10802669	12	Our data provide a biochemical explanation for the similarity in phenotype between A-T and NBS..	92	94	3	NBS	intuitive - NBS was defined as "Nijmegen Breakage Syndrome" in the abstract	C0398791	Nijmegen Breakage Syndrome			
2229	10802669	2	Both the A-T phenotype and the similarity of the ATM protein to other DNA-damage sensors suggests a role for ATM in biochemical pathways involved in the recognition, signalling and repair of DNA double-strand breaks DSBs.	10	12	3	A-T	intuitive - abstract defined A-T as "ataxia-telangiectasia" a query of A-T does not yield annotated code	C0004135	Ataxia Telangiectasia			
2230	10802669	3	There are strong parallels between the pattern of radiosensitivity, chromosomal instability and cancer predisposition in A-T patients and that in patients with Nijmegen breakage syndrome NBS.	122	124	3	A-T	intuitive - abstract defined A-T as "ataxia-telangiectasia" a query of A-T does not yield annotated code	C0004135	Ataxia Telangiectasia			
2230	10802669	3	There are strong parallels between the pattern of radiosensitivity, chromosomal instability and cancer predisposition in A-T patients and that in patients with Nijmegen breakage syndrome NBS.	188	190	3	NBS	intuitive - NBS was defined as "Nijmegen Breakage Syndrome" in the abstract	C0398791	Nijmegen Breakage Syndrome			
2230	10802669	3	There are strong parallels between the pattern of radiosensitivity, chromosomal instability and cancer predisposition in A-T patients and that in patients with Nijmegen breakage syndrome NBS.	97	102	6	cancer	* textual - yields annotated codes, however, also yields 2 others	C0006826,C1306459 	Malignant Neoplasms, Primary malignant neoplasm			
2230	10802669	3	There are strong parallels between the pattern of radiosensitivity, chromosomal instability and cancer predisposition in A-T patients and that in patients with Nijmegen breakage syndrome NBS.	161	186	26	Nijmegen breakage syndrome	textual	C0398791	Nijmegen Breakage Syndrome			
2231	10802669	4	The protein defective in NBS, nibrin (encoded by NBS1), forms a complex with MRE11 and RAD50 refs 1,2.	26	28	3	NBS	intuitive - NBS was defined as "Nijmegen Breakage Syndrome" in the abstract	C0398791	Nijmegen Breakage Syndrome			
2232	10802669	5	This complex localizes to DSBs within 30 minutes after cellular exposure to ionizing radiation (IR) and is observed in brightly staining nuclear foci after a longer period of time.					No annotation					
2233	10802669	6	The overlap between clinical and cellular phenotypes in A-T and NBS suggests that ATM and nibrin may function in the same biochemical pathway.	57	59	3	A-T	intuitive - abstract defined A-T as "ataxia-telangiectasia" a query of A-T does not yield annotated code	C0004135	Ataxia Telangiectasia			
2233	10802669	6	The overlap between clinical and cellular phenotypes in A-T and NBS suggests that ATM and nibrin may function in the same biochemical pathway.	65	67	3	NBS	intuitive - NBS was defined as "Nijmegen Breakage Syndrome" in the abstract	C0398791	Nijmegen Breakage Syndrome			
2234	10802669	7	Here we demonstrate that nibrin is phosphorylated within one hour of treatment of cells with IR.					No annotation					
2235	10802669	8	This response is abrogated in A-T cells that either do not express ATM protein or express near full-length mutant protein.	31	33	3	A-T	intuitive - abstract defined A-T as "ataxia-telangiectasia" a query of A-T does not yield annotated code	C0004135	Ataxia Telangiectasia			
2236	10802669	9	We also show that ATM physically interacts with and phosphorylates nibrin on serine 343 both in vivo and in vitro.					No annotation					
2237	10807385	10	Histology, grade, stage, and success of cytoreductive surgery were similar for hereditary and sporadic cases.					No annotation					
2238	10807385	11	The hereditary group had a longer disease-free interval following primary chemotherapy in comparison with the nonhereditary group, with a median time to recurrence of 14 months and 7 months, respectively P<.001.					No annotation					
2239	10807385	12	Those with hereditary cancers had improved survival compared with the nonhereditary group P=.004.	12	29	18	hereditary cancers	textual	C1333600	Hereditary Malignant Neoplasm			
2240	10807385	13	For stage III cancers, BRCA mutation status was an independent prognostic variable P=.03.	15	21	7	cancers	textual - yields annotated codes, however, also yields 2 others	C0006826,C1306459 	Malignant Neoplasms, Primary malignant neoplasm			
2241	10807385	14	CONCLUSIONS: Although BRCA-associated hereditary ovarian cancers in this population have surgical and pathological characteristics similar to those of sporadic cancers, advanced-stage hereditary cancer patients survive longer than nonhereditary cancer patients.	39	64	26	hereditary ovarian cancers	textual - hereditary must be replace with "familial"	C1833686	OVARIAN CANCER, FAMILIAL			
2241	10807385	14	CONCLUSIONS: Although BRCA-associated hereditary ovarian cancers in this population have surgical and pathological characteristics similar to those of sporadic cancers, advanced-stage hereditary cancer patients survive longer than nonhereditary cancer patients.	170	201	32	advanced-stage hereditary cancer	textual	C1333600	Hereditary Malignant Neoplasm			
2242	10807385	15	Age penetrance is greater for BRCA1-linked than for BRCA2-linked cancers in this population..	66	72	7	cancers	textual - yields annotated codes, however, also yields 2 others	C0006826,C1306459 	Malignant Neoplasms, Primary malignant neoplasm			
2243	10807385	2	Attempts to define the clinical significance of BRCA mutation status in ovarian cancer have produced conflicting results, especially regarding survival.	73	86	14	ovarian cancer	textual	C1140680, C0029925	Malignant neoplasm of ovary, Ovarian Carcinoma			
2244	10807385	3	OBJECTIVE: To determine whether hereditary ovarian cancers have distinct clinical and pathological features compared with sporadic (nonhereditary) ovarian cancers.	33	58	26	hereditary ovarian cancers	textual - hereditary must be replace with "familial"	C1833686	OVARIAN CANCER, FAMILIAL			
2245	10807385	4	DESIGN AND SETTING: Retrospective cohort study of a consecutive series of 933 ovarian cancers diagnosed and treated at our institution, which is a comprehensive cancer center as designated by the National Cancer Institute, over a 12-year period December 1986 to August 1998.					No annotation					
2246	10807385	5	PATIENTS: The study was restricted to patients of Jewish origin because of the ease of BRCA1 and BRCA2 genotyping in this ethnic group.					No annotation					
2247	10807385	7	The remaining 101 cases from the same series not associated with a BRCA mutation and 2 additional groups (Gynecologic Oncology Group protocols 52 and 111) with ovarian cancer from clinical trials (for the survival analysis) were included for comparison.	161	174	14	ovarian cancer	textual	C1140680, C0029925	Malignant neoplasm of ovary, Ovarian Carcinoma			
2248	10807385	8	MAIN OUTCOME MEASURES: Age at diagnosis, surgical stage, histologic cell type and grade, and surgical outcome; and response to chemotherapy and survival for advanced-stage (II and IV) cases.					No annotation					
2249	10807385	9	RESULTS: Hereditary cancers were rarely diagnosed before age 40 years and were common after age 60 years, with mean age at diagnosis being significantly younger for BRCA1- vs BRCA2-linked patients 54 vs 62 years; P=.04.	10	27	18	Hereditary cancers	textual	C1333600	Hereditary Malignant Neoplasm			
2250	10807793	1	Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever and neutrophil-mediated serosal inflammation.	31	33	3	FMF	textual - yields annotated code, however, also yields 1 other	C0031069	Familial Mediterranean Fever			
2250	10807793	1	Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever and neutrophil-mediated serosal inflammation.	1	28	28	Familial Mediterranean fever	textual	C0031069	Familial Mediterranean Fever			
2250	10807793	1	Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever and neutrophil-mediated serosal inflammation.	24	28	5	fever	textual	C0015967	Fever			
2250	10807793	1	Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever and neutrophil-mediated serosal inflammation.	41	58	18	recessive disorder	intuitive - a query of "recessive hereditary disorder" yields annotated code	C0265388	Autosomal recessive hereditary disorder			
2250	10807793	1	Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever and neutrophil-mediated serosal inflammation.	119	138	20	serosal inflammation	* textual	C0021389	Serous inflammation			
2251	10807793	10	In vitro stimulation of monocytes with the proinflammatory agents interferon (IFN) gamma, tumor necrosis factor, and lipopolysaccharide induced MEFV expression, whereas the antiinflammatory cytokines interleukin (IL) 4, IL-10, and transforming growth factor beta inhibited such expression.	91	95	5	tumor	* textual - yields annotated code, however, also yields 1 other	C0027651	Neoplasms			
2252	10807793	11	Induction by IFN-gamma occurred rapidly and was resistant to cycloheximide.					No annotation					
2253	10807793	12	IFN-alpha also induced MEFV expression.					No annotation					
2254	10807793	13	In granulocytes, MEFV was up-regulated by IFN-gamma and the combination of IFN-alpha and colchicine.					No annotation					
2255	10807793	14	These results refine understanding of MEFV by placing the gene in the myelomonocytic-specific proinflammatory pathway and identifying it as an IFN-gamma immediate early gene..					No annotation					
2256	10807793	2	We recently identified the gene causing FMF, designated MEFV, and found it to be expressed in mature neutrophils, suggesting that it functions as an inflammatory regulator.	41	43	3	FMF	intuitive - abstract defines FMF as "familial mediterranean fever" yields annotated code, however, also yields 1 other	C0031069	Familial Mediterranean Fever			
2257	10807793	3	To facilitate our understanding of the normal function of MEFV, we extended our previous studies.					No annotation					
2258	10807793	4	MEFV messenger RNA was detected by reverse transcriptase-polymerase chain reaction in bone marrow leukocytes, with differential expression observed among cells by in situ hybridization.					No annotation					
2259	10807793	5	CD34 hematopoietic stem-cell cultures induced toward the granulocytic lineage expressed MEFV at the myelocyte stage, concurrently with lineage commitment.					No annotation					
2260	10807793	6	The prepromyelocytic cell line HL60 expressed MEFV only at granulocytic and monocytic differentiation.					No annotation					
2261	10807793	7	MEFV was also expressed in the monocytic cell lines U937 and THP-1.					No annotation					
2262	10807793	8	Among peripheral blood leukocytes, MEFV expression was detected in neutrophils, eosinophils, and to varying degrees, monocytes.					No annotation					
2263	10807793	9	Consistent with the tissue specificity of expression, complete sequencing and analysis of upstream regulatory regions of MEFV revealed homology to myeloid-specific promoters and to more broadly expressed inflammatory promoter elements.					No annotation					
2264	10814710	1	Mucopolysaccharidosis IVA (MPS IVA; OMIM#253000), a lysosomal storage disorder caused by a deficiency of N -acetylgalactosamine-6-sulfate sulfatase (GALNS), has variable clinical phenotypes.	1	25	25	Mucopolysaccharidosis IVA	textual - a query of this text however does not yield annotated code	C0086651	Mucopolysaccharidosis, MPS-IV-A			
2264	10814710	1	Mucopolysaccharidosis IVA (MPS IVA; OMIM#253000), a lysosomal storage disorder caused by a deficiency of N -acetylgalactosamine-6-sulfate sulfatase (GALNS), has variable clinical phenotypes.	28	34	7	MPS IVA	textual - a query of this text however does not yield annotated code	C0086651	Mucopolysaccharidosis, MPS-IV-A			
2264	10814710	1	Mucopolysaccharidosis IVA (MPS IVA; OMIM#253000), a lysosomal storage disorder caused by a deficiency of N -acetylgalactosamine-6-sulfate sulfatase (GALNS), has variable clinical phenotypes.	53	78	26	lysosomal storage disorder	textual	C0085078	Lysosomal Storage Diseases			
2264	10814710	1	Mucopolysaccharidosis IVA (MPS IVA; OMIM#253000), a lysosomal storage disorder caused by a deficiency of N -acetylgalactosamine-6-sulfate sulfatase (GALNS), has variable clinical phenotypes.	92	147	56	deficiency of N -acetylgalactosamine-6-sulfate sulfatase	intuitive- text states a deficiency of a specific enzyme	C0149676	Enzyme Deficiency			
2265	10814710	10	Consequently, we propose that there are at least three different reasons for the severe phenotype: (i) destruction of the hydrophobic core or modification of the packing; (ii) removal of a salt bridge to destabilize the entire conformation; (iii) modification of the active site.					No annotation					
2266	10814710	11	In contrast, mild mutations were mostly located on the surface of the GALNS protein.					No annotation					
2267	10814710	12	These studies shed further light on the genotype-phenotype correlation of MPS IVA and structure-function relationship in the sulfatase family..	75	81	7	MPS IVA	intuitive - abstract defines MPS IVA as "Mucopolysaccharidosis IVA "a query of MPS IVA however does not yield annotated code	C0086651	Mucopolysaccharidosis, MPS-IV-A			
2268	10814710	2	To date we have identified 65 missense mutations in the GALNS gene from MPS IVA patients, but the correlation between genotype and phenotype has remained unclear.	73	79	7	MPS IVA	intuitive - abstract defines MPS IVA as "Mucopolysaccharidosis IVA "a query of MPS IVA however does not yield annotated code	C0086651	Mucopolysaccharidosis, MPS-IV-A			
2269	10814710	3	We studied 17 missense mutations using biochemical approaches and 32 missense mutations, using structural analyses.					No annotation					
2270	10814710	4	Fifteen missense mutations and two newly engineered active site mutations (C79S, C79T) were characterized by transient expression analysis.					No annotation					
2271	10814710	5	Mutant proteins, except for C79S and C79T, were destabilized and detected as insoluble precursor forms while the C79S and C79T mutants were of a soluble mature size.					No annotation					
2272	10814710	6	Mutants found in the severe phenotype had no activity.					No annotation					
2273	10814710	7	Mutants found in the mild phenotype had a considerable residual activity 1.3-13.3% of wild-type GALNS activity.					No annotation					
2274	10814710	8	Sulfatases, including GALNS, are members of a highly conserved gene family sharing an extensive sequence homology.					No annotation					
2275	10814710	9	Thus, a tertiary structural model of human GALNS was constructed from the X-ray crystal structure of N -acetylgalacto-samine-4-sulfatase and arylsulfatase A, using homology modeling, and 32 missense mutations were investigated.					No annotation					
2276	10817650	1	Mutations at the ataxia-telangiectasia (A-T) locus on chromosome band 11q22 cause a distinctive autosomal recessive syndrome in homozygotes and predispose heterozygotes to cancer, ischemic heart disease, and early mortality.	18	38	21	ataxia-telangiectasia	textual	C0004135	Ataxia Telangiectasia			
2276	10817650	1	Mutations at the ataxia-telangiectasia (A-T) locus on chromosome band 11q22 cause a distinctive autosomal recessive syndrome in homozygotes and predispose heterozygotes to cancer, ischemic heart disease, and early mortality.	97	124	28	autosomal recessive syndrome	textual - must add hereditary and change syndrom to disorder	C0265388	Autosomal recessive hereditary disorder			
2276	10817650	1	Mutations at the ataxia-telangiectasia (A-T) locus on chromosome band 11q22 cause a distinctive autosomal recessive syndrome in homozygotes and predispose heterozygotes to cancer, ischemic heart disease, and early mortality.	173	178	6	cancer	textual - yields annotated codes, however, also yields 2 others	C0006826,C1306459 	Malignant Neoplasms, Primary malignant neoplasm			
2276	10817650	1	Mutations at the ataxia-telangiectasia (A-T) locus on chromosome band 11q22 cause a distinctive autosomal recessive syndrome in homozygotes and predispose heterozygotes to cancer, ischemic heart disease, and early mortality.	181	202	22	ischemic heart disease	textual	C0151744	Myocardial Ischemia			
2276	10817650	1	Mutations at the ataxia-telangiectasia (A-T) locus on chromosome band 11q22 cause a distinctive autosomal recessive syndrome in homozygotes and predispose heterozygotes to cancer, ischemic heart disease, and early mortality.	209	223	15	early mortality	textual - a query of this text does not yield annotated code	C1836407	Early death			
2279	10817650	4	Out of a total of 71 unique mutations, 50 were found only in a single family, and 51 had not been reported previously.					No annotation					
2281	10817650	6	The mean survival and height distribution of 134 A-T patients correlated significantly with the specific mutations present in the patients.	50	52	3	A-T		C0004135	Ataxia Telangiectasia			
2282	10817650	7	Patients homozygous for a single truncating mutation, typically near the N-terminal end of the gene, or heterozygous for the in-frame deletion 2546 3, were shorter and had significantly shorter survival than those heterozygous for a splice site or missense mutation, or heterozygous for two truncating mutations.					No annotation					
2283	10817650	8	Alterations of the length or amino acid composition of the A-T gene product affect the A-T clinical phenotype in different ways.	88	90	3	A-T	intuitive - abstract defined A-T as "ataxia-telangiectasia"  a query of this text does not yield annotated code	C0004135	Ataxia Telangiectasia			
2284	10817650	9	Mutation analysis at the A-T locus may help estimate the prognosis of A-T patients..	71	73	3	A-T	intuitive - abstract defined A-T as "ataxia-telangiectasia"  a query of this text does not yield annotated code	C0004135	Ataxia Telangiectasia			
2285	10818206	1	Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever with serositis or synovitis.	31	33	3	FMF	textual - yields annotated code, however, also yields 1 other	C0031069	Familial Mediterranean Fever			
2285	10818206	1	Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever with serositis or synovitis.	1	28	28	Familial Mediterranean fever	textual	C0031069	Familial Mediterranean Fever			
2285	10818206	1	Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever with serositis or synovitis.	24	28	5	fever	textual	C0015967	Fever			
2285	10818206	1	Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever with serositis or synovitis.	41	58	18	recessive disorder	intuitive - a query of "recessive hereditary disorder" yields annotated code	C0265388	Autosomal recessive hereditary disorder			
2285	10818206	1	Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever with serositis or synovitis.	100	108	9	serositis	textual	C0036749	Serositis			
2285	10818206	1	Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever with serositis or synovitis.	113	121	9	synovitis	textual	C0039103	Synovitis			
2286	10818206	10	Mefv is localized on mouse Chromosome (Chr) 16, region A3-B1, extending a region of synteny with human Chr 16p13.3.					No annotation					
2287	10818206	11	Development of knockout and knockin mouse models may provide further insights into the functional evolution of this gene..					No annotation					
2288	10818206	2	Recently the FMF gene (MEFV) was cloned; the protein product, pyrin/marenostrin, is thought to regulate inflammation in myeloid cells.	14	16	3	FMF	textual - yields annotated code, however, also yields 1 other	C0031069	Familial Mediterranean Fever			
2288	10818206	2	Recently the FMF gene (MEFV) was cloned; the protein product, pyrin/marenostrin, is thought to regulate inflammation in myeloid cells.	105	116	12	inflammation	textual	C0021368	Inflammation			
2289	10818206	3	In this manuscript we report the mouse and rat homologs of MEFV.					No annotation					
2290	10818206	4	The murine gene contains ten exons with a coding sequence of 2304 bp, while the rat homolog has nine exons with a coding sequence of 2253 bp.					No annotation					
2291	10818206	5	A considerable amino acid sequence homology was observed between the mouse and human (47.6% identity and 65.5% similarity) and between the mouse and rat genes 73.5% identity and 82.1% similarity.					No annotation					
2292	10818206	6	The predicted rodent proteins have several important domains and signals found in human pyrin, including a B-box zinc finger domain, Robbins-Dingwall nuclear localization signal, and coiled-coil domain.					No annotation					
2293	10818206	7	However, perhaps because of an ancient frame-shift mutation, neither the mouse nor the rat protein has an intact C-terminal B30.2 domain, in which most FMF-associated mutations have been found in human MEFV.	153	155	3	FMF	textual - yields annotated code, however, also yields 1 other	C0031069	Familial Mediterranean Fever			
2294	10818206	8	Nevertheless, like the human gene, mouse Mefv is expressed in peripheral blood granulocytes but not lymphocytes.					No annotation					
2295	10818206	9	Consistent with its expression in granulocytes, Mefv was detected at high levels in the primary follicles and marginal zones of the splenic white pulp.					No annotation					
2296	10827108	1	The proteolipid protein gene (PLP) is normally present at chromosome Xq22.					No annotation					
2297	10827108	10	The identification of three separate families in which PLP is duplicated at a noncontiguous site suggests that such duplications could be a relatively common but previously undetected cause of genetic disorders..	194	210	17	genetic disorders	textual	C0019247	Hereditary Diseases			
2298	10827108	3	Here we describe two new families in which males affected with PMD were found to have a copy of PLP on the short arm of the X chromosome, in addition to a normal copy on Xq22.	64	66	3	PMD	intuitive - abstract defines PMD as "Pelizaeus-Merzbacher Disease" a query of PMD yields annotated code and 2 others	C0205711	Pelizaeus-Merzbacher Disease			
2299	10827108	4	In the first family, the extra copy was first detected by the presence of heterozygosity of the AhaII dimorphism within the PLP gene.	97	112	16	AhaII dimorphism	*					
2300	10827108	5	The results of FISH analysis showed an additional copy of PLP in Xp22.1, although no chromosomal rearrangements could be detected by standard karyotype analysis.					No annotation					
2301	10827108	6	Another three affected males from the family had similar findings.					No annotation					
2302	10827108	7	In a second unrelated family with signs of PMD, cytogenetic analysis showed a pericentric inversion of the X chromosome.	44	46	3	PMD	intuitive - abstract defines PMD as "Pelizaeus-Merzbacher Disease" a query of PMD yields annotated code and 2 others	C0205711	Pelizaeus-Merzbacher Disease			
2303	10827108	8	In the inv(X) carried by several affected family members, FISH showed PLP signals at Xp11.4 and Xq22.					No annotation					
2304	10827108	9	A third family has previously been reported, in which affected members had an extra copy of the PLP gene detected at Xq26 in a chromosome with an otherwise normal banding pattern.					No annotation					
2305	10827109	1	Recently, a 6-kb duplication of exon 13, which creates a frameshift in the coding sequence of the BRCA1 gene, has been described in three unrelated U.S. families of European ancestry and in one Portuguese family.					No annotation					
2306	10827109	2	Here, our goal was to estimate the frequency and geographic diversity of carriers of this duplication.					No annotation					
2307	10827109	3	To do this, a collaborative screening study was set up that involved 39 institutions from 19 countries and included 3,580 unrelated individuals with a family history of the disease and 934 early-onset breast and/or ovarian cancer cases.	202	229	28	breast and/or ovarian cancer	intuitive - list is present, a query of "breast cancer" yields annotated codes	C0678222, C0006142	Breast Carcinoma, Malignant neoplasm of breast			
2307	10827109	3	To do this, a collaborative screening study was set up that involved 39 institutions from 19 countries and included 3,580 unrelated individuals with a family history of the disease and 934 early-onset breast and/or ovarian cancer cases.	216	229	14	ovarian cancer	textual	C1140680, C0029925	Malignant neoplasm of ovary, Ovarian Carcinoma			
2308	10827109	4	A total of 11 additional families carrying this mutation were identified in Australia (1), Belgium (1), Canada (1), Great Britain (6), and the United States 2.					No annotation					
2309	10827109	5	Haplotyping showed that they are likely to derive from a common ancestor, possibly of northern British origin.					No annotation					
2310	10827109	6	Our results demonstrate that it is strongly advisable, for laboratories carrying out screening either in English-speaking countries or in countries with historical links with Britain, to include within their BRCA1 screening protocols the polymerase chain reaction-based assay described in this report..					No annotation					
2311	10830910	1	Von Hippel-Lindau (VHL) disease is a hereditary tumor syndrome characterized by predisposition for bilateral and multi-centric hemangioblastoma in the retina and central nervous system, pheochromocytoma, renal cell carcinoma, and cysts in the kidney, pancreas, and epididymis.	20	22	3	VHL	textual - yields annotated code and 2 others	C0019562	Von Hippel-Lindau Syndrome			
2311	10830910	1	Von Hippel-Lindau (VHL) disease is a hereditary tumor syndrome characterized by predisposition for bilateral and multi-centric hemangioblastoma in the retina and central nervous system, pheochromocytoma, renal cell carcinoma, and cysts in the kidney, pancreas, and epididymis.	1	31	31	Von Hippel-Lindau (VHL) disease	textual - a query of "Von Hippel-Lindau disease" yields annotated code	C0019562	Von Hippel-Lindau Syndrome			
2311	10830910	1	Von Hippel-Lindau (VHL) disease is a hereditary tumor syndrome characterized by predisposition for bilateral and multi-centric hemangioblastoma in the retina and central nervous system, pheochromocytoma, renal cell carcinoma, and cysts in the kidney, pancreas, and epididymis.	38	62	25	hereditary tumor syndrome	textual - query does not yield annotated code	C1333600	Hereditary Malignant Neoplasm			
2311	10830910	1	Von Hippel-Lindau (VHL) disease is a hereditary tumor syndrome characterized by predisposition for bilateral and multi-centric hemangioblastoma in the retina and central nervous system, pheochromocytoma, renal cell carcinoma, and cysts in the kidney, pancreas, and epididymis.	128	143	16	hemangioblastoma	textual	C0206734	hemangioblastoma			
2311	10830910	1	Von Hippel-Lindau (VHL) disease is a hereditary tumor syndrome characterized by predisposition for bilateral and multi-centric hemangioblastoma in the retina and central nervous system, pheochromocytoma, renal cell carcinoma, and cysts in the kidney, pancreas, and epididymis.	187	202	16	pheochromocytoma	textual	C0031511	Pheochromocytoma			
2311	10830910	1	Von Hippel-Lindau (VHL) disease is a hereditary tumor syndrome characterized by predisposition for bilateral and multi-centric hemangioblastoma in the retina and central nervous system, pheochromocytoma, renal cell carcinoma, and cysts in the kidney, pancreas, and epididymis.	205	224	20	renal cell carcinoma	textual	C0007134	Renal Cell Carcinoma			
2311	10830910	1	Von Hippel-Lindau (VHL) disease is a hereditary tumor syndrome characterized by predisposition for bilateral and multi-centric hemangioblastoma in the retina and central nervous system, pheochromocytoma, renal cell carcinoma, and cysts in the kidney, pancreas, and epididymis.	231	249	19	cysts in the kidney	textual - yields 2 possible UMLS codes	C0022679	Cystic kidney	Simple renal cyst [C0268800]		
2311	10830910	1	Von Hippel-Lindau (VHL) disease is a hereditary tumor syndrome characterized by predisposition for bilateral and multi-centric hemangioblastoma in the retina and central nervous system, pheochromocytoma, renal cell carcinoma, and cysts in the kidney, pancreas, and epididymis.	231	259	29	cysts in the kidney, pancreas	intuitive - list is present, a query of "pancreas cysts" yields annotated code	C0030283	Pancreatic Cyst			
2311	10830910	1	Von Hippel-Lindau (VHL) disease is a hereditary tumor syndrome characterized by predisposition for bilateral and multi-centric hemangioblastoma in the retina and central nervous system, pheochromocytoma, renal cell carcinoma, and cysts in the kidney, pancreas, and epididymis.	231	275	45	cysts in the kidney, pancreas, and epididymis	intuitive - list is present, a query of "epididymis cysts" yields annotated code	C0037859	Spermatocele			
2314	10830910	4	In four families, partial deletions of one or more exons were detected by Southern blot analysis.					No annotation					
2315	10830910	5	In the fifth family, FISH analysis demonstrated the deletion of the entire VHL gene.	76	78	3	VHL	intuitve - abstract defines VHL as "Von Hippel-Lindau disease" yields annotated code and 2 others	C0019562	Von Hippel-Lindau Syndrome			
2316	10830910	6	Our results show that (quantitative) Southern blot analysis is a sensitive method for detecting germline deletions of the VHL gene and should be implemented in routine DNA diagnosis for VHL disease.	187	197	11	VHL disease	intuitve - abstract defines VHL disease as "Von Hippel-Lindau disease" yields annotated code and 2 others	C0019562	Von Hippel-Lindau Syndrome			
2317	10830910	7	Our data support the previously established observation that families with a germline deletion have a low risk for pheochromocytoma.	116	131	16	pheochromocytoma	textual	C0031511	Pheochromocytoma			
2318	10830910	8	Further unraveling of genotype-phenotype correlations in VHL disease has revealed that families with a full or partial deletion of the VHL gene exhibit a phenotype with a preponderance of central nervous system hemangioblastoma..	58	68	11	VHL disease	intuitve - abstract defines VHL disease as "Von Hippel-Lindau disease" yields annotated code and 2 others	C0019562	Von Hippel-Lindau Syndrome			
2318	10830910	8	Further unraveling of genotype-phenotype correlations in VHL disease has revealed that families with a full or partial deletion of the VHL gene exhibit a phenotype with a preponderance of central nervous system hemangioblastoma..	189	227	39	central nervous system hemangioblastoma	textual	C1333955	Central Nervous System Capillary Hemangioblastoma			
2319	10830915	1	Friedreich ataxia (FRDA), the most frequently inherited ataxia, is due in the vast majority of cases to a large expansion of an intronic GAA repeat.	20	23	4	FRDA	textual - yields alternative code	C0016719	Friedreich Ataxia	C1856689 FRIEDREICH ATAXIA 1		
2319	10830915	1	Friedreich ataxia (FRDA), the most frequently inherited ataxia, is due in the vast majority of cases to a large expansion of an intronic GAA repeat.	1	17	17	Friedreich ataxia	textual - yields annotated code	C0016719	Friedreich Ataxia	C1856689 FRIEDREICH ATAXIA 1		
2319	10830915	1	Friedreich ataxia (FRDA), the most frequently inherited ataxia, is due in the vast majority of cases to a large expansion of an intronic GAA repeat.	47	62	16	inherited ataxia	textual - a query of "hereditary ataxia" yields annotated code	C0004138	Ataxias, Hereditary			
2320	10830915	2	Using linkage disequilibrium analysis based on haplotype data of seven polymorphic markers close to the frataxin gene, the age of FRDA founding mutational event(s) is estimated to be at least 682+/-203 generations (95% confidence interval: 564-801 g), a dating which is consistent with little or no negative selection and provides further evidence for an ancient spread of a pre-mutation (at-risk alleles) in western Europe..	131	134	4	FRDA	intuitive - abstract defines FRDA as "Friedreich ataxia" a query of FRDA yields alternative code	C0016719	Friedreich Ataxia	C1856689 FRIEDREICH ATAXIA 1		
2321	10839544	1	Ataxia-telangiectasia (A-T) and Nijmegen breakage syndrome (NBS) are recessive genetic disorders with susceptibility to cancer and similar cellular phenotypes.	24	26	3	A-T	textual - does not yield annotated code	C0004135	Ataxia Telangiectasia			
2321	10839544	1	Ataxia-telangiectasia (A-T) and Nijmegen breakage syndrome (NBS) are recessive genetic disorders with susceptibility to cancer and similar cellular phenotypes.	61	63	3	NBS	textual - yields annotated code and 5 others	C0398791	Nijmegen Breakage Syndrome			
2321	10839544	1	Ataxia-telangiectasia (A-T) and Nijmegen breakage syndrome (NBS) are recessive genetic disorders with susceptibility to cancer and similar cellular phenotypes.	1	21	21	Ataxia-telangiectasia	textual	C0004135	Ataxia Telangiectasia			
2321	10839544	1	Ataxia-telangiectasia (A-T) and Nijmegen breakage syndrome (NBS) are recessive genetic disorders with susceptibility to cancer and similar cellular phenotypes.	33	58	26	Nijmegen breakage syndrome	textual	C0398791	Nijmegen Breakage Syndrome			
2321	10839544	1	Ataxia-telangiectasia (A-T) and Nijmegen breakage syndrome (NBS) are recessive genetic disorders with susceptibility to cancer and similar cellular phenotypes.	70	96	27	recessive genetic disorders	textual - a search of "recessive hereditary disorders" yields annotated code	C0265388	Autosomal recessive hereditary disorder			
2321	10839544	1	Ataxia-telangiectasia (A-T) and Nijmegen breakage syndrome (NBS) are recessive genetic disorders with susceptibility to cancer and similar cellular phenotypes.	121	126	6	cancer	textual - yields annotated codes, however, also yields 2 others	C0006826,C1306459 	Malignant Neoplasms, Primary malignant neoplasm			
2322	10839544	2	The protein product of the gene responsible for A-T, designated ATM, is a member of a family of kinases characterized by a carboxy-terminal phosphatidylinositol 3-kinase-like domain.	49	51	3	A-T	intuitive - abstract defines A-T as "Ataxia-telangiectasia" a query of A-T does not yield annotated code	C0004135	Ataxia Telangiectasia			
2323	10839544	3	The NBS1 protein is specifically mutated in patients with Nijmegen breakage syndrome and forms a complex with the DNA repair proteins Rad50 and Mrel1.	59	84	26	Nijmegen breakage syndrome	textual	C0398791	Nijmegen Breakage Syndrome			
2324	10839544	4	Here we show that phosphorylation of NBS1, induced by ionizing radiation, requires catalytically active ATM.					No annotation					
2325	10839544	5	Complexes containing ATM and NBS1 exist in vivo in both untreated cells and cells treated with ionizing radiation.					No annotation					
2326	10839544	6	We have identified two residues of NBS1, Ser 278 and Ser 343 that are phosphorylated in vitro by ATM and whose modification in vivo is essential for the cellular response to DNA damage.					No annotation					
2327	10839544	7	This response includes S-phase checkpoint activation, formation of the NBS1/Mrel1/Rad50 nuclear foci and rescue of hypersensitivity to ionizing radiation.					No annotation					
2328	10839544	8	Together, these results demonstrate a biochemical link between cell-cycle checkpoints activated by DNA damage and DNA repair in two genetic diseases with overlapping phenotypes..					No annotation					
2329	10842298	1	A syndrome of microcephaly, progressive postnatal growth deficiency, and mental retardation was observed in two brothers and their cousin from a multiply consanguineous kindred of Lebanese descent.	15	26	12	microcephaly	textual	C0025958	Microcephaly			
2329	10842298	1	A syndrome of microcephaly, progressive postnatal growth deficiency, and mental retardation was observed in two brothers and their cousin from a multiply consanguineous kindred of Lebanese descent.	41	67	27	postnatal growth deficiency	textual	C1842323	Postnatal growth deficiency			
2329	10842298	1	A syndrome of microcephaly, progressive postnatal growth deficiency, and mental retardation was observed in two brothers and their cousin from a multiply consanguineous kindred of Lebanese descent.	74	91	18	mental retardation	textual	C0025362	Mental Retardation			
2330	10842298	2	Hypotonia, chorioretinal dystrophy, and myopia were also identified.	1	9	9	Hypotonia	textual	C0026827	Muscle hypotonia			
2330	10842298	2	Hypotonia, chorioretinal dystrophy, and myopia were also identified.	12	34	23	chorioretinal dystrophy	textual	C1857627	Chorioretinal dystrophy			
2330	10842298	2	Hypotonia, chorioretinal dystrophy, and myopia were also identified.	41	46	6	myopia	textual	C0027092	Myopia			
2331	10842298	3	The severity of the condition varied among the closely related patients.					No annotation					
2332	10842298	4	Because of absence of a distinctive facial appearance, the degree of mental retardation, and short stature, the initially considered clinical diagnosis of Cohen syndrome was withdrawn and a novel genetic entity was assumed.	70	87	18	mental retardation	textual	C0025362	Mental Retardation			
2332	10842298	4	Because of absence of a distinctive facial appearance, the degree of mental retardation, and short stature, the initially considered clinical diagnosis of Cohen syndrome was withdrawn and a novel genetic entity was assumed.	156	169	14	Cohen syndrome	textual	C0265223	Cohen syndrome			
2333	10842298	5	Homozygosity mapping in this family assigned the gene to a 26.8-cM region on the chromosome band 8q21.3 -22.1, between the microsatellites at D8S270 and D8S514.					No annotation					
2334	10842298	6	The maximum two-point LOD score was found for marker at D8S267 Zmax=3.237 at Omax=0.00.					No annotation					
2335	10842298	7	Intriguingly enough, the identified gene region overlaps the refined gene region for Cohen syndrome (COH1) Kolehmainen et al., 1997: Euro J Hum Genet 5:206-213.	86	99	14	Cohen syndrome	textual	C0265223	Cohen syndrome			
2336	10842298	8	This fact encourages the hypothesis that the described kindred segregates for a variant of Cohen syndrome and suggests a redefinition of its phenotype..	92	105	14	Cohen syndrome	textual	C0265223	Cohen syndrome			
2337	10861282	1	Ankylosing spondylitis (AS) is a common and highly familial rheumatic disorder.	25	26	2	AS	textual - does not yield annotated code	C0038013	Ankylosing spondylitis			
2337	10861282	1	Ankylosing spondylitis (AS) is a common and highly familial rheumatic disorder.	1	22	22	Ankylosing spondylitis	textual - yields annotated code and 1 other	C0038013	Ankylosing spondylitis			
2337	10861282	1	Ankylosing spondylitis (AS) is a common and highly familial rheumatic disorder.	61	78	18	rheumatic disorder	textual - a query of rheumatic disease yields annotated code	C0035435	Rheumatism			
2338	10861282	10	Heterozygosity for the most frequent poor metabolizer allele (CYP2D6*4) was not associated with increased susceptibility to AS.	125	126	2	AS	intuitive - abstract defines AS as "ankylosing spondylitis" a query of AS does not yield annotated code	C0038013	Ankylosing spondylitis			
2339	10861282	11	Significant within-family association of CYP2D6*4 alleles and AS was demonstrated.	63	64	2	AS	intuitive - abstract defines AS as "ankylosing spondylitis" a query of AS does not yield annotated code	C0038013	Ankylosing spondylitis			
2341	10861282	13	We postulate that altered metabolism of a natural toxin or antigen by the CYP2D6 gene may increase susceptibility to AS..	118	119	2	AS	intuitive - abstract defines AS as "ankylosing spondylitis" a query of AS does not yield annotated code	C0038013	Ankylosing spondylitis			
2342	10861282	2	The sibling recurrence risk ratio for the disease is 63 and heritability assessed in twins >90%.					No annotation					
2343	10861282	3	Although MHC genes, including HLA-B27, contribute only 20-50% of the genetic risk for the disease, no non-MHC gene has yet been convincingly demonstrated to influence either susceptibility to the disease or its phenotypic expression.					No annotation					
2344	10861282	4	Previous linkage and association studies have suggested the presence of a susceptibility gene for AS close to, or within, the cytochrome P450 2D6 gene (CYP2D6, debrisoquine hydroxylase) located at chromosome 22q13.1.	99	100	2	AS	intuitive - abstract defines AS as "ankylosing spondylitis" a query of AS does not yield annotated code	C0038013	Ankylosing spondylitis			
2345	10861282	5	We performed a linkage study of chromosome 22 in 200 families with AS affected sibling-pairs.	68	69	2	AS	intuitive - abstract defines AS as "ankylosing spondylitis" a query of AS does not yield annotated code	C0038013	Ankylosing spondylitis			
2346	10861282	6	Association of alleles of the CYP2D6 gene was examined by both case-control and within-family means.					No annotation					
2347	10861282	7	For case-control studies, 617 unrelated individuals with AS (361 probands from sibling-pair and parent-case trio families and 256 unrelated non-familial sporadic cases) and 402 healthy ethnically matched controls were employed.	58	59	2	AS	intuitive - abstract defines AS as "ankylosing spondylitis" a query of AS does not yield annotated code	C0038013	Ankylosing spondylitis			
2348	10861282	8	For within-family association studies, 361 families including 161 parent-case trios and 200 affected sibling-pair families were employed.					No annotation					
2349	10861282	9	Homozygosity for poor metabolizer alleles was found to be associated with AS.	75	76	2	AS	intuitive - abstract defines AS as "ankylosing spondylitis" a query of AS does not yield annotated code	C0038013	Ankylosing spondylitis			
2350	10861298	1	The PDS gene encodes a transmembrane protein, known as pendrin, which functions as a transporter of iodide and chloride.					No annotation					
2351	10861298	3	A screen of 20 individuals from the midwestern USA with non-syndromic hearing loss and dilated vestibular aqueducts identified three people (15%) with PDS mutations.	71	82	12	hearing loss	textual	C1384666	hearing impairment			
2351	10861298	3	A screen of 20 individuals from the midwestern USA with non-syndromic hearing loss and dilated vestibular aqueducts identified three people (15%) with PDS mutations.	88	115	28	dilated vestibular aqueducts	textual	C1863752	ENLARGED VESTIBULAR AQUEDUCT SYNDROME			
2352	10861298	6	We hypothesize that this residual level of anion transport is sufficient to eliminate or postpone the onset of goiter in individuals with DFNB4.	112	117	6	goiter	textual	C0018021	Goiter			
2353	10861298	7	We propose a model for pendrin function in the thyroid in which pendrin transports iodide across the apical membrane of the thyrocyte into the colloid space..					No annotation					
2354	10874302	1	Germline mutations are the major source of genetic variation that allows a species to evolve over time but at the cost of Mendelian disease and genetic predisposition to multifactorial diseases.					No annotation					
2355	10874302	2	Previous analyses have revealed that the pattern of germline mutations in the factor IX gene (F9) is similar among a variety of ethnically and geographically diverse populations and compatible with the ancient pattern that has shaped the mammalian genome.					No annotation					
2356	10874302	4	Caucasians, Blacks, and Mexican Hispanics and stratify by disease severity and ethnicity.					No annotation					
2357	10874302	5	The similar pattern of germline mutation in all ethnic groups studied to date provides additional data compatible with the inference that endogenous processes predominate in germline mutations..					No annotation					
2358	10875918	2	This effect, rather than depending on ligand-induced receptor oligomerization, was found to stem from ligand- independent interaction of wild-type and mutant Fas receptors through a specific region in the extracellular domain.					No annotation					
2359	10875918	3	Preassociated Fas complexes were found in living cells by means of fluorescence resonance energy transfer between variants of green fluorescent protein.					No annotation					
2360	10875918	4	These results show that formation of preassociated receptor complexes is necessary for Fas signaling and dominant interference in human disease..					No annotation					
2361	10878391	2	Previous study disclosed that flow cytometric analysis of intracellular WASP expression (FCM-WASP analysis) in lymphocytes was useful for the diagnosis of WAS patients.	156	158	3	WAS	intuitive - abstract defined WAS as "Wiskott-Aldrich Syndrome" a query of WAS yields annotated code and 20 others	C0043194	Wiskott-Aldrich Syndrome			
2362	10878391	3	Lymphocytes from all WAS patients showed WASPdim instead of WASPbright.	22	24	3	WAS	intuitive - abstract defined WAS as "Wiskott-Aldrich Syndrome" a query of WAS yields annotated code and 20 others	C0043194	Wiskott-Aldrich Syndrome			
2363	10878391	4	Here we report that FCM-WASP analysis in monocytes could be a useful tool for the WAS carrier diagnosis.	83	85	3	WAS	intuitive - abstract defined WAS as "Wiskott-Aldrich Syndrome" a query of WAS yields annotated code and 20 others	C0043194	Wiskott-Aldrich Syndrome			
2364	10878391	5	Monocytes from all nine WAS carriers showed varied population of WASPdim together with WASPbright.	25	27	3	WAS	intuitive - abstract defined WAS as "Wiskott-Aldrich Syndrome" a query of WAS yields annotated code and 20 others	C0043194	Wiskott-Aldrich Syndrome			
2365	10878391	6	None of control individuals possessed the WASPdim population.					No annotation					
2366	10878391	7	In contrast, lymphocytes from all the carriers except two lacked the WASPdim population.					No annotation					
2367	10878391	8	The difference of the WASPdim population in monocytes and lymphocytes observed in WAS carriers suggests that WASP plays a more critical role in the development of lymphocytes than in that of monocytes.	83	85	3	WAS	intuitive - abstract defined WAS as "Wiskott-Aldrich Syndrome" a query of WAS yields annotated code and 20 others	C0043194	Wiskott-Aldrich Syndrome			
2368	10878391	9	The present studies suggest that a skewed X-chromosomal inactivation pattern observed in WAS carrier peripheral blood cells is not fixed at the hemopoietic stem cell level but progresses after the lineage commitment..	90	92	3	WAS	intuitive - abstract defined WAS as "Wiskott-Aldrich Syndrome" a query of WAS yields annotated code and 20 others	C0043194	Wiskott-Aldrich Syndrome			
2369	10888879	1	The gene Prph2 encodes a photoreceptor-specific membrane glycoprotein, peripherin-2 (also known as peripherin/rds), which is inserted into the rims of photoreceptor outer segment discs in a complex with rom-1 ref. 2.					No annotation					
2370	10888879	2	The complex is necessary for the stabilization of the discs, which are renewed constantly throughout life, and which contain the visual pigments necessary for photon capture.					No annotation					
2371	10888879	3	Mutations in Prph2 have been shown to result in a variety of photoreceptor dystrophies, including autosomal dominant retinitis pigmentosa and macular dystrophy.	62	86	25	photoreceptor dystrophies	Could not find adequate UMLS code					
2371	10888879	3	Mutations in Prph2 have been shown to result in a variety of photoreceptor dystrophies, including autosomal dominant retinitis pigmentosa and macular dystrophy.	99	137	39	autosomal dominant retinitis pigmentosa	textual	C0339525	Autosomal dominant retinitis pigmentosa			
2371	10888879	3	Mutations in Prph2 have been shown to result in a variety of photoreceptor dystrophies, including autosomal dominant retinitis pigmentosa and macular dystrophy.	143	159	17	macular dystrophy	textual	C0730292	Macular dystrophy			
2372	10888879	4	A common feature of these diseases is the loss of photoreceptor function, also seen in the retinal degeneration slow (rds or Prph2 Rd2/Rd2) mouse, which is homozygous for a null mutation in Prph2.	43	72	30	loss of photoreceptor function	Could not find adequate UMLS code					
2372	10888879	4	A common feature of these diseases is the loss of photoreceptor function, also seen in the retinal degeneration slow (rds or Prph2 Rd2/Rd2) mouse, which is homozygous for a null mutation in Prph2.	92	111	20	retinal degeneration	textual	C0035304	Retinal Degeneration			
2373	10888879	5	It is characterized by a complete failure to develop photoreceptor discs and outer segments, downregulation of rhodopsin and apoptotic loss of photoreceptor cells.					*					
2374	10888879	6	The electroretinograms (ERGs) of Prph2Rd2/Rd2 mice have greatly diminished a-wave and b-wave amplitudes, which decline to virtually undetectable concentrations by two months.					No annotation					
2375	10888879	7	Subretinal injection of recombinant adeno-associated virus (AAV) encoding a Prph2 transgene results in stable generation of outer segment structures and formation of new stacks of discs containing both perpherin-2 and rhodopsin, which in many cases are morphologically similar to normal outer segments.					No annotation					
2376	10888879	8	Moreover, the re-establishment of the structural integrity of the photoreceptor layer also results in electrophysiological correction.					No annotation					
2377	10888879	9	These studies demonstrate for the first time that a complex ultrastructural cell defect can be corrected both morphologically and functionally by in vivo gene transfer..					No annotation					
2378	10891444	1	Congenital afibrinogenemia is a rare, autosomal, recessive disorder characterized by the complete absence of detectable fibrinogen.	1	26	26	Congenital afibrinogenemia	textual	C0019250	Hereditary factor I deficiency disease			
2378	10891444	1	Congenital afibrinogenemia is a rare, autosomal, recessive disorder characterized by the complete absence of detectable fibrinogen.	39	67	29	autosomal, recessive disorder	textual - a query of "autosomal, hereditary recessive disorder yields annotated code	C0265388	Autosomal recessive hereditary disorder			
2379	10891444	2	We previously identified the first causative mutations in a nonconsanguineous Swiss family; the 4 affected persons have homozygous deletions of approximately 11 kb of the fibrinogen alpha (FGA) gene.					No annotation					
2380	10891444	3	Haplotype data implied that these deletions occurred on distinct ancestral chromosomes, suggesting that this region may be susceptible to deletion by a common mechanism.					No annotation					
2381	10891444	4	We subsequently showed that all the deletions were identical to the base pair and probably resulted from a nonhomologous recombination mediated by 7-bp direct repeats.					No annotation					
2382	10891444	5	In this study, we have collected data on 13 additional unrelated patients to identify the causative mutations and to determine the prevalence of the 11-kb deletion.					No annotation					
2383	10891444	6	A common recurrent mutation, at the donor splice site of FGA intron 4 (IVS4 + 1 G > T), accounted for 14 of the 26 (54%) alleles.					No annotation					
2384	10891444	7	One patient was heterozygous for the previously identified deletion.					No annotation					
2385	10891444	8	Three more frameshift mutations, 2 nonsense mutations, and a second splice site mutation were also identified.					No annotation					
2386	10911990	1	The mechanism by which (CTG)n expansion in the 3' UTR of the DMPK gene causes myotonic dystrophy (DM) is unknown.	99	100	2	DM	texual - yields annotated code and 8 others	C0027126	Myotonic Dystrophy			
2386	10911990	1	The mechanism by which (CTG)n expansion in the 3' UTR of the DMPK gene causes myotonic dystrophy (DM) is unknown.	79	96	18	myotonic dystrophy	textual	C0027126	Myotonic Dystrophy			
2387	10911990	2	We identified four RNA splicing factors--hnRNP C, U2AF (U2 auxiliary factor), PTB (polypyrimidine tract binding protein), and PSF (PTB associated splicing factor)--that bind to two short regions 3' of the (CUG)n, and found a novel 3' DMPK exon resulting in an mRNA lacking the repeats.					No annotation					
2388	10911990	3	We propose that the (CUG)n is an essential cis acting element for this splicing event.					No annotation					
2389	10911990	4	In contrast to (CUG)n containing mRNAs, the novel isoform is not retained in the nucleus in DM cells, resulting in imbalances in relative levels of cytoplasmic DMPK mRNA isoforms and a new dominant effect of the mutation on DMPK..	93	94	2	DM	intuitive - abstract defined DM as "myotonic dystrophy" a query of DM yields annotated code and 8 others	C0027126	Myotonic Dystrophy			
2390	10915770	1	Prader-Willi syndrome (PWS) is caused by the loss of expression of imprinted genes in chromosome 15q11-q13.	24	26	3	PWS	textual - yields annotated code	C0032897	Prader-Willi Syndrome			
2390	10915770	1	Prader-Willi syndrome (PWS) is caused by the loss of expression of imprinted genes in chromosome 15q11-q13.	1	21	21	Prader-Willi syndrome	textual	C0032897	Prader-Willi Syndrome			
2391	10915770	2	Affected individuals exhibit neonatal hypotonia, developmental delay and childhood-onset obesity.	30	47	18	neonatal hypotonia	textual - yields annotated code	C0343239	Benign congenital hypotonia			
2391	10915770	2	Affected individuals exhibit neonatal hypotonia, developmental delay and childhood-onset obesity.	50	68	19	developmental delay	textual - yields annotated code	C0424605	Developmental delay (disorder)			
2391	10915770	2	Affected individuals exhibit neonatal hypotonia, developmental delay and childhood-onset obesity.	90	96	7	obesity	textual	C0028754	Obesity			
2392	10915770	3	Necdin, a protein implicated in the terminal differentiation of neurons, is the only PWS candidate gene to reduce viability when disrupted in a mouse model.	86	88	3	PWS	intuitive - abstract defined PWS as "Prader-Willi syndrome" a query of PWS yields annotated code	C0032897	Prader-Willi Syndrome			
2394	10915770	5	MAGEL2 is expressed predominantly in brain, the primary tissue affected in PWS and in several fetal tissues as shown by northern blot analysis.	76	78	3	PWS	intuitive - abstract defined PWS as "Prader-Willi syndrome" a query of PWS yields annotated code	C0032897	Prader-Willi Syndrome			
2395	10915770	6	MAGEL2 is imprinted with monoallelic expression in control brain, and paternal-only expression in the central nervous system as demonstrated by its lack of expression in brain from a PWS-affected individual.	184	186	3	PWS	intuitive - abstract defined PWS as "Prader-Willi syndrome" a query of PWS yields annotated code	C0032897	Prader-Willi Syndrome			
2396	10915770	7	The orthologous mouse gene (Magel2) is located within 150 kb of NDN:, is imprinted with paternal-only expression and is expressed predominantly in late developmental stages and adult brain as shown by northern blotting, RT-PCR and whole-mount RNA in situ hybridization.					No annotation					
2397	10915770	8	Magel2 distribution partially overlaps that of NDN:, with strong expression being detected in the central nervous system in mid-gestation mouse embryos by in situ hybridization.					No annotation					
2398	10915770	9	We hypothesize that, although loss of necdin expression may be important in the neonatal presentation of PWS, loss of MAGEL2 may be critical to abnormalities in brain development and dysmorphic features in individuals with PWS..	106	108	3	PWS	intuitive - abstract defined PWS as "Prader-Willi syndrome" a query of PWS yields annotated code	C0032897	Prader-Willi Syndrome			
2398	10915770	9	We hypothesize that, although loss of necdin expression may be important in the neonatal presentation of PWS, loss of MAGEL2 may be critical to abnormalities in brain development and dysmorphic features in individuals with PWS..	224	226	3	PWS	intuitive - abstract defined PWS as "Prader-Willi syndrome" a query of PWS yields annotated code	C0032897	Prader-Willi Syndrome			
2398	10915770	9	We hypothesize that, although loss of necdin expression may be important in the neonatal presentation of PWS, loss of MAGEL2 may be critical to abnormalities in brain development and dysmorphic features in individuals with PWS..	145	178	34	abnormalities in brain development	Could not find suitable UMLS code					
2398	10915770	9	We hypothesize that, although loss of necdin expression may be important in the neonatal presentation of PWS, loss of MAGEL2 may be critical to abnormalities in brain development and dysmorphic features in individuals with PWS..	184	202	19	dysmorphic features	textual	C0432072	Dysmorphic features			
2399	10915776	1	X-linked retinoschisis is characterized by microcystic-like changes of the macular region and schisis within the inner retinal layers, leading to visual deterioration in males.	1	22	22	X-linked retinoschisis	textual - yields annotated code	C0271091	Retinoschisis, Juvenile, X-Linked			
2399	10915776	1	X-linked retinoschisis is characterized by microcystic-like changes of the macular region and schisis within the inner retinal layers, leading to visual deterioration in males.	147	166	20	visual deterioration	* textual - don't know which UMLS code fits best	C0042798	Visual impairment	C0456909 ] Blind Vision		
2400	10915776	10	Thus, X-linked retinoschisis is caused by abnormalities in a putative secreted photoreceptor protein and is the first example of a secreted photo-receptor protein associated with a retinal dystrophy..	7	28	22	X-linked retinoschisis	textual - yields annotated code	C0271091	Retinoschisis, Juvenile, X-Linked			
2400	10915776	10	Thus, X-linked retinoschisis is caused by abnormalities in a putative secreted photoreceptor protein and is the first example of a secreted photo-receptor protein associated with a retinal dystrophy..	182	198	17	retinal dystrophy	textual	C0854723	Retinal dystrophy			
2401	10915776	2	Many missense and protein-truncating mutations of the causative gene RS1 have now been identified and are thought to be inactivating.					No annotation					
2402	10915776	3	RS1 encodes a 224 amino acid protein, retinoschisin, which contains a discoidin domain but is of unknown function.					No annotation					
2403	10915776	4	We have generated a polyclonal antibody against a peptide from a unique region within retinoschisin, which detects a protein of approximately 28 kDa in retinal samples reduced with dithiothreitol, but multimers sized >40 kDa under non-reducing conditions.					No annotation					
2404	10915776	5	A screen of human tissues with this antibody reveals retinoschisin to be retina specific and the antibody detects a protein of similar size in bovine and murine retinae.					No annotation					
2405	10915776	6	We investigated the expression pattern in the retina of both RS1 mRNA (using in situ hybridization with riboprobes) and retinoschisin using immunohistochemistry.					No annotation					
2406	10915776	7	The antisense riboprobe detected RS1 mRNA only in the photoreceptor layer but the protein product of the gene was present both in the photoreceptors and within the inner portions of the retina.					No annotation					
2407	10915776	8	Furthermore, differentiated retinoblastoma cells (Weri-Rb1 cells) were found to express RS1 mRNA and to release retinoschisin.	29	42	14	retinoblastoma	textual -  yields annotated code and 1 other	C0035335	Retinoblastoma			
2408	10915776	9	These results suggest that retinoschisin is released by photo-receptors and has functions within the inner retinal layers.					No annotation					
2409	10923035	1	Benign familial infantile convulsions (BFIC) is a rare autosomal dominant epilepsy syndrome.	40	43	4	BFIC	textual - yields annotated code	C1866328	CONVULSIONS, BENIGN FAMILIAL INFANTILE, 1			
2409	10923035	1	Benign familial infantile convulsions (BFIC) is a rare autosomal dominant epilepsy syndrome.	1	37	37	Benign familial infantile convulsions	textual - does not yield annotated code	C1866328	CONVULSIONS, BENIGN FAMILIAL INFANTILE, 1			
2409	10923035	1	Benign familial infantile convulsions (BFIC) is a rare autosomal dominant epilepsy syndrome.	56	91	36	autosomal dominant epilepsy syndrome	textual	C0265385	Autosomal dominant hereditary disorder			
2409	10923035	1	Benign familial infantile convulsions (BFIC) is a rare autosomal dominant epilepsy syndrome.	75	82	8	epilepsy	textual	C0014544	Epilepsy			
2410	10923035	11	One variant was identified in intron 5 (IVS5-10C>G), which did not segregate with BFIC and was observed in 9.2% controls.	83	86	4	BFIC	textual - yields annotated code	C1866328	CONVULSIONS, BENIGN FAMILIAL INFANTILE, 1			
2411	10923035	12	A second variant in intron 5 was identified IVS5+30G>A.					No annotation					
2412	10923035	13	It was rare, as not observed in controls, but not segregating with the BFIC phenotype..	72	75	4	BFIC	textual - yields annotated code	C1866328	CONVULSIONS, BENIGN FAMILIAL INFANTILE, 1			
2413	10923035	2	This syndrome has been recently described in Italian and French pedigrees.					No annotation					
2414	10923035	3	Patients present with partial, then generalized seizures, with onset at age three months.	23	56	34	partial, then generalized seizures	intuitive - list is present, a query of "partial seizures" yields annotated code	C0751495	Seizures, Focal			
2414	10923035	3	Patients present with partial, then generalized seizures, with onset at age three months.	37	56	20	generalized seizures	textual	C0234533	Generalized seizures			
2415	10923035	4	The seizures usually spontaneously cease after one year without treatment, leaving no neurological abnormalities.	5	12	8	seizures	intuitive - seizures I believe are in reference to the "generalized seizures"	C0234533	Generalized seizures			
2415	10923035	4	The seizures usually spontaneously cease after one year without treatment, leaving no neurological abnormalities.	87	112	26	neurological abnormalities	intuitive - closest UMLS code I could find	C0027765	nervous system disorder			
2416	10923035	5	We have mapped BFIC to chromosome 19q in five Italian pedigrees.	16	19	4	BFIC	textual - yields annotated code	C1866328	CONVULSIONS, BENIGN FAMILIAL INFANTILE, 1			
2417	10923035	6	The sodium channel beta1 subunit gene (SCN1B) maps to this candidate region and has been shown to be involved in one Australian pedigree with generalized epilepsy and febrile seizures plus" GEFS +. "	143	188	46	generalized epilepsy and febrile seizures plus	textual - yields annotated code	C1858671	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS			
2417	10923035	6	The sodium channel beta1 subunit gene (SCN1B) maps to this candidate region and has been shown to be involved in one Australian pedigree with generalized epilepsy and febrile seizures plus" GEFS +. "	191	196	6	GEFS +	textual - yields annotated code and 3 others	C1858671	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS			
2418	10923035	7	In this family, a missense mutation in SCN1B cosegregates with the GEFS+ phenotype.	68	72	5	GEFS+	intuitive - abstract defines GEFS+ as "generalized epilepsy and febrile seizures plus" a query of GEFS+ yields annotated code and 3 others	C1858671	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS			
2419	10923035	8	BFIC and GEFS+ have clinical features in common, therefore SCN1B is a candidate gene for BFIC.	1	4	4	BFIC	textual - yields annotated code	C1866328	CONVULSIONS, BENIGN FAMILIAL INFANTILE, 1			
2419	10923035	8	BFIC and GEFS+ have clinical features in common, therefore SCN1B is a candidate gene for BFIC.	10	14	5	GEFS+	intuitive - abstract defines GEFS+ as "generalized epilepsy and febrile seizures plus" a query of GEFS+ yields annotated code and 3 others	C1858671	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS			
2419	10923035	8	BFIC and GEFS+ have clinical features in common, therefore SCN1B is a candidate gene for BFIC.	90	93	4	BFIC	textual - yields annotated code	C1866328	CONVULSIONS, BENIGN FAMILIAL INFANTILE, 1			
2421	10924409	1	Germline mutations of the adenomatous polyposis coli (APC) tumor-suppressor gene result in familial adenomatous polyposis FAP.	123	125	3	FAP	textual - yields annotated code and 6 others	C0032580	Adenomatous Polyposis Coli			
2421	10924409	1	Germline mutations of the adenomatous polyposis coli (APC) tumor-suppressor gene result in familial adenomatous polyposis FAP.	27	52	26	adenomatous polyposis coli	textual - yields annotated code	C0032580	Adenomatous Polyposis Coli			
2421	10924409	1	Germline mutations of the adenomatous polyposis coli (APC) tumor-suppressor gene result in familial adenomatous polyposis FAP.	60	64	5	tumor	textual - yields annotated code, however, also yields 1 other	C0027651	Neoplasms			
2421	10924409	1	Germline mutations of the adenomatous polyposis coli (APC) tumor-suppressor gene result in familial adenomatous polyposis FAP.	92	121	30	familial adenomatous polyposis	textual - yields annotated code	C0032580	Adenomatous Polyposis Coli			
2422	10924409	10	However, these patients develop colorectal tumors more frequently than does the general population because APC(AS9) is inactivated by mutations that do not inactivate the wild-type APC..	33	49	17	colorectal tumors	textual	C0009404	Colorectal Neoplasms			
2423	10924409	2	Patients with FAP typically develop hundreds to thousands of benign colorectal tumors and early-onset colorectal cancer.	15	17	3	FAP	intuitive - abstract defined FAP as familial adenomatous polyposis, a query of FAP yields annotated code and 6 others	C0032580	Adenomatous Polyposis Coli			
2423	10924409	2	Patients with FAP typically develop hundreds to thousands of benign colorectal tumors and early-onset colorectal cancer.	69	85	17	colorectal tumors	textual	C0009404	Colorectal Neoplasms			
2423	10924409	2	Patients with FAP typically develop hundreds to thousands of benign colorectal tumors and early-onset colorectal cancer.	103	119	17	colorectal cancer	textual	C0009402, C1527249	Carcinoma of the Large Intestine, Colorectal Cancer			
2424	10924409	3	A subset of germline APC mutations results in an attenuated FAP (AFAP) phenotype, in which patients develop fewer tumors and develop them at an older age.	66	69	4	AFAP	intuitive - FAP yields the code for "adenomatous polyposis coli" this led to the annotation. A query of "AFAP" does not yield annotated code	C1868019	ADENOMATOUS POLYPOSIS COLI, ATTENUATED			
2424	10924409	3	A subset of germline APC mutations results in an attenuated FAP (AFAP) phenotype, in which patients develop fewer tumors and develop them at an older age.	50	63	14	attenuated FAP	intuitive - FAP yields the code for "adenomatous polyposis coli" this led to the annotation. A query of "attenuated FAP" does not yield annotated code	C1868019	ADENOMATOUS POLYPOSIS COLI, ATTENUATED			
2424	10924409	3	A subset of germline APC mutations results in an attenuated FAP (AFAP) phenotype, in which patients develop fewer tumors and develop them at an older age.	115	120	6	tumors	textual - yields annotated code, however, also yields 1 other	C0027651	Neoplasms			
2425	10924409	4	Although a genotype-phenotype correlation between the locations of APC germline mutations and the development of AFAP has been well documented, the mechanism for AFAP has not been well defined.	114	117	4	AFAP	intuitive - FAP yields the code for "adenomatous polyposis coli" this led to the annotation. A query of "AFAP" does not yield annotated code	C1868019	ADENOMATOUS POLYPOSIS COLI, ATTENUATED			
2425	10924409	4	Although a genotype-phenotype correlation between the locations of APC germline mutations and the development of AFAP has been well documented, the mechanism for AFAP has not been well defined.	163	166	4	AFAP	intuitive - FAP yields the code for "adenomatous polyposis coli" this led to the annotation. A query of "AFAP" does not yield annotated code	C1868019	ADENOMATOUS POLYPOSIS COLI, ATTENUATED			
2426	10924409	5	We investigated the mechanism for AFAP in patients carrying a mutant APC allele APC AS9 that has a mutation in the alternatively spliced region of exon 9.	35	38	4	AFAP	intuitive - FAP yields the code for "adenomatous polyposis coli" this led to the annotation. A query of "AFAP" does not yield annotated code	C1868019	ADENOMATOUS POLYPOSIS COLI, ATTENUATED			
2427	10924409	6	APC(AS9) was found to down-regulate beta-catenin-regulated transcription, the major tumor-suppressor function of APC, as did the wild-type APC.	85	89	5	tumor	textual - yields annotated code, however, also yields 1 other	C0027651	Neoplasms			
2428	10924409	7	Mutation analysis showed that both APC(AS9) and the wild-type APC alleles were somatically mutated in most colorectal tumors from these patients.	108	124	17	colorectal tumors	textual	C0009404	Colorectal Neoplasms			
2429	10924409	8	Functional analysis showed that 4666insA, a common somatic mutation in APC(AS9) in these tumors, did not inactivate the wild-type APC.	90	95	6	tumors	textual - yields annotated code, however, also yields 1 other	C0027651	Neoplasms			
2430	10924409	9	Our results indicate that carriers of APC(AS9) develop fewer colorectal tumors than do typical patients with FAP because somatic inactivation of both APC alleles is necessary for colorectal tumorigenesis.	110	112	3	FAP	intuitive - abstract defined FAP as familial adenomatous polyposis, a query of FAP yields annotated code and 6 others	C0032580	Adenomatous Polyposis Coli			
2430	10924409	9	Our results indicate that carriers of APC(AS9) develop fewer colorectal tumors than do typical patients with FAP because somatic inactivation of both APC alleles is necessary for colorectal tumorigenesis.	62	78	17	colorectal tumors	textual	C0009404	Colorectal Neoplasms			
2430	10924409	9	Our results indicate that carriers of APC(AS9) develop fewer colorectal tumors than do typical patients with FAP because somatic inactivation of both APC alleles is necessary for colorectal tumorigenesis.	191	203	13	tumorigenesis	textual	C1326912	Tumorigenesis			
2431	10930361	1	Frataxin deficiency is the primary cause of Friedreich ataxia (FRDA), an autosomal recessive cardiodegenerative and neurodegenerative disease.	64	67	4	FRDA	textual - yields alternative code	C0016719	Friedreich Ataxia	[ C1856689 ] FRIEDREICH ATAXIA 1		
2431	10930361	1	Frataxin deficiency is the primary cause of Friedreich ataxia (FRDA), an autosomal recessive cardiodegenerative and neurodegenerative disease.	1	19	19	Frataxin deficiency	*					
2431	10930361	1	Frataxin deficiency is the primary cause of Friedreich ataxia (FRDA), an autosomal recessive cardiodegenerative and neurodegenerative disease.	45	61	17	Friedreich ataxia	textual	C0016719	Friedreich Ataxia	[ C1856689 ] FRIEDREICH ATAXIA 1		
2431	10930361	1	Frataxin deficiency is the primary cause of Friedreich ataxia (FRDA), an autosomal recessive cardiodegenerative and neurodegenerative disease.	74	92	19	autosomal recessive	intuitive	C0265388	Autosomal recessive hereditary disorder			
2431	10930361	1	Frataxin deficiency is the primary cause of Friedreich ataxia (FRDA), an autosomal recessive cardiodegenerative and neurodegenerative disease.	94	141	48	cardiodegenerative and neurodegenerative disease	intuitive - list is present, a query of "cardiodegenerative disease" annotated code is generic, a more specific code might exist, however I was unsure which to choose	C0018799	Heart Diseases			
2431	10930361	1	Frataxin deficiency is the primary cause of Friedreich ataxia (FRDA), an autosomal recessive cardiodegenerative and neurodegenerative disease.	117	141	25	neurodegenerative disease	textual	C0524851	Neurodegenerative Disorders			
2432	10930361	10	Each multimer consists of approximately 60 subunits and can sequester >3,000 atoms of iron.					No annotation					
2433	10930361	11	Titration of mYfh1p with increasing iron concentrations supports a stepwise mechanism of multimer assembly.					No annotation					
2434	10930361	12	Sequential addition of an iron chelator and a reducing agent results in quantitative iron release with concomitant disassembly of the multimer, indicating that mYfh1p sequesters iron in an available form.					No annotation					
2435	10930361	13	In yeast mitochondria, native mYfh1p exists as monomer and a higher-order species with a molecular weight >600,000.					No annotation					
2436	10930361	14	After addition of (55)Fe to the medium, immunoprecipitates of this species contain >16 atoms of (55)Fe per molecule of mYfh1p.					No annotation					
2437	10930361	15	We propose that iron-dependent self-assembly of recombinant mYfh1p reflects a physiological role for frataxin in mitochondrial iron sequestration and bioavailability..					No annotation					
2438	10930361	2	Frataxin is a nuclear-encoded mitochondrial protein that is widely conserved among eukaryotes.					No annotation					
2439	10930361	3	Genetic inactivation of the yeast frataxin homologue (Yfh1p) results in mitochondrial iron accumulation and hypersensitivity to oxidative stress.					No annotation					
2440	10930361	4	Increased iron deposition and evidence of oxidative damage have also been observed in cardiac tissue and cultured fibroblasts from patients with FRDA.	146	149	4	FRDA	textual - yields alternative code	C0016719	Friedreich Ataxia	[ C1856689 ] FRIEDREICH ATAXIA 1		
2441	10930361	5	These findings indicate that frataxin is essential for mitochondrial iron homeostasis and protection from iron-induced formation of free radicals.					No annotation					
2442	10930361	6	The functional mechanism of frataxin, however, is still unknown.					No annotation					
2443	10930361	7	We have expressed the mature form of Yfh1p (mYfh1p) in Escherichia coli and have analyzed its function in vitro.					No annotation					
2444	10930361	8	Isolated mYfh1p is a soluble monomer (13,783 Da) that contains no iron and shows no significant tendency to self-associate.					No annotation					
2445	10930361	9	Aerobic addition of ferrous iron to mYfh1p results in assembly of regular spherical multimers with a molecular mass of approximately 1. 1 MDa (megadaltons) and a diameter of 13+/-2 nm.					No annotation					
2446	10930571	1	Aarskog-Scott Syndrome (AAS) is an X-linked disorder characterised by short stature and multiple facial, limb and genital abnormalities.	25	27	3	AAS	textual - yields annotated code and 7 others	C0175701	Aarskog syndrome			
2446	10930571	1	Aarskog-Scott Syndrome (AAS) is an X-linked disorder characterised by short stature and multiple facial, limb and genital abnormalities.	1	22	22	Aarskog-Scott Syndrome	textual	C0175701	Aarskog syndrome			
2446	10930571	1	Aarskog-Scott Syndrome (AAS) is an X-linked disorder characterised by short stature and multiple facial, limb and genital abnormalities.	36	52	17	X-linked disorder	intuitive	C0949683	Sex Chromosome Disorders			
2446	10930571	1	Aarskog-Scott Syndrome (AAS) is an X-linked disorder characterised by short stature and multiple facial, limb and genital abnormalities.	89	135	47	multiple facial, limb and genital abnormalities	* Could not find suitable UMLS code					
2446	10930571	1	Aarskog-Scott Syndrome (AAS) is an X-linked disorder characterised by short stature and multiple facial, limb and genital abnormalities.	106	135	30	limb and genital abnormalities	intuitive - list is present a query of "limb abnormalities" yields annotated code	C0239337	Limb deformity			
2446	10930571	1	Aarskog-Scott Syndrome (AAS) is an X-linked disorder characterised by short stature and multiple facial, limb and genital abnormalities.	115	135	21	genital abnormalities	textual	C0744356	Genital abnormalities			
2447	10930571	2	A gene, FGD1, altered in a patient with AAS phenotype, has been identified and found to encode a protein with homology to Rho/Rac guanine nucleotide exchange factors Rho/Rac GEF.	41	43	3	AAS	intuitive - abstract defines AAS as "Aarskog-Scott Syndrome" a query of AAS yields annotated code and 7 others	C0175701	Aarskog syndrome			
2448	10930571	3	However, since this original report on identification of a mutated FGD1 gene in an AAS patient, no additional mutations in the FGD1 gene have been described.	84	86	3	AAS	intuitive - abstract defines AAS as "Aarskog-Scott Syndrome" a query of AAS yields annotated code and 7 others	C0175701	Aarskog syndrome			
2449	10930571	4	We analysed 13 independent patients with clinical diagnosis of AAS.	64	66	3	AAS	intuitive - abstract defines AAS as "Aarskog-Scott Syndrome" a query of AAS yields annotated code and 7 others	C0175701	Aarskog syndrome			
2450	10930571	5	One patient presented a mutation that results in a nucleotide change in exon 10 of the FGD1 gene (G2559>A) substituting a Gln for Arg in position 610.					No annotation					
2451	10930571	6	The mutation was found to segregate with the AAS phenotype in affected males and carrier females in the family of this patient.	46	48	3	AAS	intuitive - abstract defines AAS as "Aarskog-Scott Syndrome" a query of AAS yields annotated code and 7 others	C0175701	Aarskog syndrome			
2452	10930571	7	Interestingly, Arg-610 is located within one of the two pleckstrin homology (PH) domains of the FGD1 gene and it corresponds to a highly conserved residue which has been involved in InsP binding in PH domains of other proteins.					No annotation					
2453	10930571	8	The same residue is often mutated in the Bruton's tyrosine kinase (Btk) gene in patients with an X-linked agammaglobulinemia.	98	124	27	X-linked agammaglobulinemia	textual	C0221026	X-linked agammaglobulinemia			
2454	10930571	9	The Arg610Gln mutation represents the first case of a mutation in the PH domain of the FGD1 gene and additional evidence that mutations in PH domains can be associated to human diseases..					No annotation					
2455	10932179	1	Huntington disease (HD) is caused by expansion of a glutamine repeat in the amino-terminal region of huntingtin.	21	22	2	HD	textual - yields annotated code and 4 others	C0020179	Huntington Disease			
2455	10932179	1	Huntington disease (HD) is caused by expansion of a glutamine repeat in the amino-terminal region of huntingtin.	1	18	18	Huntington disease	textual - yields annotated code and 1 other	C0020179	Huntington Disease			
2456	10932179	2	Despite its widespread expression, mutant huntingtin induces selective neuronal loss in striatal neurons.	72	84	13	neuronal loss	textual	C1850496	Neuronal loss			
2457	10932179	3	Here we report that, in mutant mice expressing HD repeats, the production and aggregation of N-terminal huntingtin fragments preferentially occur in HD-affected neurons and their processes and axonal terminals.	150	151	2	HD	intuitive -abstract defined HD as "Huntington disease" yields annotated code and 4 others	C0020179	Huntington Disease			
2458	10932179	4	N-terminal fragments of mutant huntingtin form aggregates and induce neuritic degeneration in cultured striatal neurons.					No annotation					
2459	10932179	5	N-terminal mutant huntingtin also binds to synaptic vesicles and inhibits their glutamate uptake in vitro.					No annotation					
2460	10932179	6	The specific processing and accumulation of toxic fragments of N-terminal huntingtin in HD-affected striatal neurons, especially in their neuronal processes and axonal terminals, may contribute to the selective neuropathology of HD..	89	90	2	HD	intuitive -abstract defined HD as "Huntington disease" yields annotated code and 4 others	C0020179	Huntington Disease			
2460	10932179	6	The specific processing and accumulation of toxic fragments of N-terminal huntingtin in HD-affected striatal neurons, especially in their neuronal processes and axonal terminals, may contribute to the selective neuropathology of HD..	230	231	2	HD	intuitive -abstract defined HD as "Huntington disease" yields annotated code and 4 others	C0020179	Huntington Disease			
2461	10943845	2	Using a combination of affinity- and conventional chromatographic techniques, we have isolated a predominant form of a multiprotein BRCA1-containing complex from human cells displaying chromatin-remodeling activity.					No annotation					
2462	10943845	3	Mass spectrometric sequencing of components of this complex indicated that BRCA1 is associated with a SWI/SNF-related complex.					No annotation					
2463	10943845	4	We show that BRCA1 can directly interact with the BRG1 subunit of the SWI/SNF complex.					No annotation					
2464	10943845	5	Moreover, p53-mediated stimulation of transcription by BRCA1 was completely abrogated by either a dominant-negative mutant of BRG1 or the cancer-causing deletion in exon 11 of BRCA1.	139	144	6	cancer	textual - yields annotated codes, however, also yields 2 others	C0006826,C1306459 	Malignant Neoplasms, Primary malignant neoplasm			
2465	10943845	6	These findings reveal a direct function for BRCA1 in transcriptional control through modulation of chromatin structure..					No annotation					
2466	10947987	1	The adenomatous polyposis coli gene (APC) is mutated in familial adenomatous polyposis and in sporadic colorectal tumors.	5	30	26	adenomatous polyposis coli	textual	C0032580	Adenomatous Polyposis Coli			
2466	10947987	1	The adenomatous polyposis coli gene (APC) is mutated in familial adenomatous polyposis and in sporadic colorectal tumors.	57	86	30	familial adenomatous polyposis	textual - yields annotated code and 1 other	C0032580	Adenomatous Polyposis Coli			
2466	10947987	1	The adenomatous polyposis coli gene (APC) is mutated in familial adenomatous polyposis and in sporadic colorectal tumors.	104	120	17	colorectal tumors	textual	C0009404	Colorectal Neoplasms			
2467	10947987	2	Here the APC gene product is shown to bind through its armadillo repeat domain to a Rac-specific guanine nucleotide exchange factor (GEF), termed Asef.					No annotation					
2468	10947987	3	Endogenous APC colocalized with Asef in mouse colon epithelial cells and neuronal cells.					No annotation					
2469	10947987	4	Furthermore, APC enhanced the GEF activity of Asef and stimulated Asef-mediated cell flattening, membrane ruffling, and lamellipodia formation in MDCK cells.					No annotation					
2470	10947987	5	These results suggest that the APC-Asef complex may regulate the actin cytoskeletal network, cell morphology and migration, and neuronal function..					No annotation					
2471	10958786	2	We have found that chemical inhibitors of metalloproteases potentiate netrin-mediated axon outgrowth in vitro.					No annotation					
2472	10958786	3	We have also found that DCC is a substrate for metalloprotease-dependent ectodomain shedding, and that the inhibitors block proteolytic processing of DCC and cause an increase in DCC protein levels on axons within spinal cord explants.					No annotation					
2473	10958786	4	Thus, potentiation of netrin activity by inhibitors may result from stabilization of DCC on the axons, and proteolytic activity may regulate axon migration by controlling the number of functional extracellular axon guidance receptors..					No annotation					
2474	10976074	2	The mutant DMPK messenger RNA (mRNA) contains an expanded CUG repeat and is retained in the nucleus.					No annotation					
2475	10976074	3	We have expressed an untranslated CUG repeat in an unrelated mRNA in transgenic mice.					No annotation					
2476	10976074	4	Mice that expressed expanded CUG repeats developed myotonia and myopathy, whereas mice expressing a nonexpanded repeat did not.	52	59	8	myotonia	textual	C0027125	Myotonia			
2476	10976074	4	Mice that expressed expanded CUG repeats developed myotonia and myopathy, whereas mice expressing a nonexpanded repeat did not.	65	72	8	myopathy	textual	C0026848	Myopathy			
2477	10976074	5	Thus, transcripts with expanded CUG repeats are sufficient to generate a DM phenotype.	74	75	2	DM	intuitive - was defined in abstract as Myotonic Dystrophy	C0027126	Myotonic Dystrophy			
2478	10976074	6	This result supports a role for RNA gain of function in disease pathogenesis..					No annotation					
2479	10982189	1	Germline mutations of the adenomatous polyposis coli (APC) tumor-suppressor gene result in the hereditary colorectal cancer syndrome familial adenomatous polyposis FAP.	165	167	3	FAP	textual - yields annotated code and 6 others	C0032580	Adenomatous Polyposis Coli			
2479	10982189	1	Germline mutations of the adenomatous polyposis coli (APC) tumor-suppressor gene result in the hereditary colorectal cancer syndrome familial adenomatous polyposis FAP.	27	52	26	adenomatous polyposis coli	textual	C0032580	Adenomatous Polyposis Coli			
2479	10982189	1	Germline mutations of the adenomatous polyposis coli (APC) tumor-suppressor gene result in the hereditary colorectal cancer syndrome familial adenomatous polyposis FAP.	107	123	17	colorectal cancer	textual - yields both annotated codes	Carcinoma of the Large Intestine, Colorectal Cancer	C0009402, C1527249			
2479	10982189	1	Germline mutations of the adenomatous polyposis coli (APC) tumor-suppressor gene result in the hereditary colorectal cancer syndrome familial adenomatous polyposis FAP.	134	163	30	familial adenomatous polyposis	textual - yields annotated code and 1 other	C0032580	Adenomatous Polyposis Coli			
2480	10982189	10	These rearrangements were initially revealed by analyzing cDNAs and could not have been identified by using mutation detection methods that screened each exon individually.					No annotation					
2481	10982189	11	The identification of a rearrangement that did not alter any coding exons yet affected the splicing further underscores the importance of using cDNA for mutation analysis.					No annotation					
2484	10982189	3	No well-characterized intragenic rearrangement of APC has been described, and the prevalence of this type of mutation in FAP patients is not clear.	122	124	3	FAP	intuitive - was defined in abstract as familial adenomatous polyposis and yields annotated code and 6 others 	C0032580	Adenomatous Polyposis Coli			
2485	10982189	4	We screened 49 potential FAP families and identified 26 different germline APC mutations in 30 families.	26	28	3	FAP	intuitive - was defined in abstract as familial adenomatous polyposis and yields annotated code and 6 others 	C0032580	Adenomatous Polyposis Coli			
2486	10982189	5	Four of these mutations were genomic rearrangements resulting from homologous and nonhomologous recombinations mediated by Alu elements.					No annotation					
2487	10982189	6	Two of these four rearrangements were complex, involving deletion and insertion of nucleotides.					No annotation					
2488	10982189	7	Of these four rearrangements, one resulted in the deletion of exons 11 and 12 and two others resulted in either complete or partial deletion of exon 14.					No annotation					
2489	10982189	8	The fourth rearrangement grossly altered the sequence within intron 14.					No annotation					
2491	10987655	1	Mutations in the brain specific P/Q type Ca2+ channel alpha1 subunit gene, CACNA1A, have been identified in three clinically distinct disorders, viz.					No annotation					
2492	10987655	10	Furthermore, this mutation has been detected in a family member with mild clinical signs including only migraine.	105	112	8	migraine	textual	C0149931	Migraine Disorders			
2493	10987655	11	Additionally, a second previously identified recurrent muta tion, C2272T, in exon 16 has been discovered in a patient with FHM..	124	126	3	FHM	textual - was defined as familial hemiplegic migraine, yields alternate code	C0338484	Familial Hemiplegic Migraine	MIGRAINE, FAMILIAL HEMIPLEGIC, 1 [C1832894]		
2494	10987655	3	For individuals with EA-2, the mutations described thus far are presumed to result in a truncated protein product.	22	25	4	EA-2	intuitive - was defined as Episodic ataxia type 2 in abstract	C1720416	Episodic ataxia type 2			
2494	10987655	3	For individuals with EA-2, the mutations described thus far are presumed to result in a truncated protein product.					No annotation					
2495	10987655	4	Several different missense mutations have been identified in patients with FHM.	76	78	3	FHM	textual - was defined as familial hemiplegic migraine, yields alternate code	C0338484	Familial Hemiplegic Migraine			
2496	10987655	5	At least two of these mutations have been identified on two different chromosome 19p13 haplotypes and thus represent recurrent mutations.					No annotation					
2497	10987655	6	In the present study, we have screened several individuals for mutations in all 47 exons in the CACNA1A gene by single-strand conformation analysis.					No annotation					
2498	10987655	7	We have characterised a novel missense mutation, G5260A, in exon 32 in a family segregating for EA-2.	97	100	4	EA-2	intuitive - was defined as Episodic ataxia type 2 in abstract	C1720416	Episodic ataxia type 2			
2499	10987655	8	The consequence of this mutation is an amino acid substitution at a highly conserved position within the CACNA1A gene.					No annotation					
2500	10987655	9	This represents the first point mutation not resulting in a proposed truncated protein.					No annotation					
2501	1127526	1	A small-for-gestational-age infant, found to have analbuminemia in the neonatal period, is reported and the twelve cases recorded in the world literature are reviewed.	51	63	13	analbuminemia	textual	C0878666	Analbuminemia			
2502	1127526	2	Patients lacking this serum protein are essentially asymptomatic, apart from minimal ankle edema and ease of fatigue.	86	96	11	ankle edema	textual	C0235439	Ankle edema (finding)			
2503	1127526	3	Apparent compensatory mechanisms which come into play when serum albumin is low include prolonged half-life of albumin and transferrin, an increase in serum globulins, beta lipoprotein, and glycoproteins, arterial hypotension with reduced capillary hydrostatic pressure, and the ability to respond with rapid sodium and chloride diuresis in response to small volume changes.					No annotation					
2504	1127526	4	Examination of plasma amino acids, an investigation not previously reported, revealed an extremely low plasma tryptophan level, a finding which may be important in view of the role of tryptophan in albumin synthesis..					No annotation					
2505	1146783	1	Two brothers, 6 and 13 years old, had histidinemia.	39	50	12	histidinemia	textual	C0220992	Deficiency of histidine ammonia-lyase			
2506	1146783	2	On the basis of clinical and biochemical observations, the younger boy was considered to have a classical type of the disease, while the older boy had an atypical form characterized by partial impairment of the skin histidase activity and a moderately prolonged half-life of blood histidine.					No annotation					
2507	1146783	3	The mother is a heterozygous carrier, while the father and sister seem to be normal..					No annotation					
2508	116187	2	Lymphocyte activities were: mother, 33--39%; father, 11--29%; brother, 82--103%; and sister, 38--48% of the lowest normal.					No annotation					
2509	116187	3	Fibroblasts from the patient's mother and father had 42 and 34%, respectively, of the activity of the lowest normal.					No annotation					
2510	116187	4	These data demonstrate that the disease is inherited in an autosomal recessive manner and that lymphocytes and fibroblasts can be used to detect carriers.					No annotation					
2511	116187	5	Neither pyruvate carboxylase nor mitochondrial PEPCK activity in lymphocytes was increased by a 21-hr fast..					No annotation					
2512	1201235	2	Two groups of subjects with hyperbilirubinaemia of non-immunological origin were examined: (a) 302 newborn babies of Sardinian extraction (on cord blood) and (b) 201 newborn babies of south Italian ancestry on peripheral blood.	29	47	19	hyperbilirubinaemia	textual - yields annotated code and 1 other	C0020433	Hyperbilirubinemia			
2513	1201235	3	Among 503 subjects, 43 showed an enzyme deficiency; in 39 the defect was of the Mediterranean type.	34	50	17	enzyme deficiency	textual	C0149676	Enzyme Deficiency			
2514	1201235	4	In one case, previously described, the enzyme was of the A- type.					No annotation					
2515	1201235	5	In the remaining cases three different variants were identified.					No annotation					
2516	1201235	6	In the present work these three cases, each with severe neonatal jaundice, are reported.	57	73	17	neonatal jaundice	textual	C0022353	Neonatal Jaundice			
2517	1201235	7	Their parents originated from Calabria, from Sardinia and from Sicily.					No annotation					
2518	1201235	8	The abnormal enzymes are respectively designated as GdDcbrousse-like,, GdGallura and GdAgrigento..					No annotation					
2519	1222588	1	Chromosomal studies were performed on peripheral blood lymphocytes and cultured skin fibroblasts from five Israeli-Moroccan families with ataxia-telangiectasia.	139	159	21	ataxia-telangiectasia	textual	C0004135	Ataxia Telangiectasia			
2520	1222588	2	A total of 24 individuals, including seven propositi, was investigated.					No annotation					
2521	1222588	3	Among the probands, significantly elevated rates of chromosome damage were observed in both blood and skin.					No annotation					
2522	1222588	4	Skin fibroblasts of affected individuals showed several orders of magnitude more chromosome breakage than lymphocytes.					No annotation					
2523	1222588	5	Increased rates of chromosome damage were also observed in the fibroblasts of some phenotypically normal family members (obligate heterozygotes and sibs) when compared to normal controls.					No annotation					
2524	1222588	6	An apparent abnormal clone of cells, possessing a large acrocentric marker chromosome (14q+), was observed in varying proportions among cells of all the propositi 2-5% of lymphocytes; 1-9% of fibroblasts ..					No annotation					
2525	122435	1	Two pregnancies at risk for Wolman disease were monitored by assay and electrophoresis of acid lipase in cultured amniotic-fluid cells.	29	42	14	Wolman disease	textual	C0043208	Wolman Disease			
2526	122435	2	Cells from patient 1 had 5% of control levels of acid lipase, using 14C-triolein as substrate; however, when artificial substrates (esters of 4-methylumbelliferone and p-nitrophenol) were used to measure acid lipase, these cells had 30% of control levels.					No annotation					
2527	122435	3	Electrophoresis of cell extracts revealed the absence of the A form of acid lipase, consistent with the diagnosis of Wolman disease.	118	131	14	Wolman disease	textual	C0043208	Wolman Disease			
2528	122435	4	Analysis of fetal tissues following prostaglandin termination of this pregnancy confirmed the diagnosis.					No annotation					
2529	122435	5	Assay of fetal-skin fibroblasts with 14C-triolein, as well as with artificial substrates, showed marked deficiency of acid lipase activity.	105	138	34	deficiency of acid lipase activity	intuitive	C0149676	Enzyme Deficiency			
2530	122435	6	Electrophoresis of fetal-tissue extracts also demonstrated the absence of the A form of acid lipase.					No annotation					
2531	122435	7	Amniotic-fluid cells from patient 2 showed normal levels of acid lipase with all substrates tested; the electrophoretic pattern of acid lipase was normal.					No annotation					
2532	122435	8	The results suggest that the prenatal diagnosis of Wolman disease be made using the radioassay of acid lipase and/or electrophoresis..	52	65	14	Wolman disease	textual	C0043208	Wolman Disease			
2533	1248000	1	Ataxia-telangiectasia (A-T) is an autosomal recessive syndrome associated with a greatly increased incidence of malignant neoplasms in homozygous affected individuals.	24	26	3	A-T	textual - does not yield annotated code	C0004135	Ataxia Telangiectasia			
2533	1248000	1	Ataxia-telangiectasia (A-T) is an autosomal recessive syndrome associated with a greatly increased incidence of malignant neoplasms in homozygous affected individuals.	1	21	21	Ataxia-telangiectasia	textual	C0004135	Ataxia Telangiectasia			
2533	1248000	1	Ataxia-telangiectasia (A-T) is an autosomal recessive syndrome associated with a greatly increased incidence of malignant neoplasms in homozygous affected individuals.	35	62	28	autosomal recessive syndrome	textual	C0265388	Autosomal recessive hereditary disorder			
2533	1248000	1	Ataxia-telangiectasia (A-T) is an autosomal recessive syndrome associated with a greatly increased incidence of malignant neoplasms in homozygous affected individuals.	113	131	19	malignant neoplasms	textual	C0006826	Malignant Neoplasms			
2534	1248000	2	Heterozygotes for the gene for A-T are thought to comprise about 1% of the general population and, therefore, it is important to know whether this gene also predisposes the heterozygous carrier to cancers.	32	34	3	A-T	textual - does not yield annotated code	C0004135	Ataxia Telangiectasia			
2534	1248000	2	Heterozygotes for the gene for A-T are thought to comprise about 1% of the general population and, therefore, it is important to know whether this gene also predisposes the heterozygous carrier to cancers.	198	204	7	cancers	textual - yields annotated codes, however, also yields 2 others	C0006826,C1306459 	Malignant Neoplasms, Primary malignant neoplasm			
2535	1248000	3	Heterozygous carriers of this gene are common among the close relatives of patients with A-T, although individual carriers cannot be identified by any clinical criterion or laboratory test.	90	92	3	A-T	textual - does not yield annotated code	C0004135	Ataxia Telangiectasia			
2536	1248000	4	For this reason, we compared the incidence of death from malignant neoplasms in 2 families of patients with A-T to that expected in a random sample of the general population.	109	111	3	A-T	textual - does not yield annotated code	C0004135	Ataxia Telangiectasia			
2536	1248000	4	For this reason, we compared the incidence of death from malignant neoplasms in 2 families of patients with A-T to that expected in a random sample of the general population.	58	76	19	malignant neoplasms	textual - does not yield annotated code	C0004135	Ataxia Telangiectasia			
2537	1248000	5	There were 59 deaths from malignant neoplasms in relatives dying before age 75, compared to 42.6 expected p less than 0.02.	27	45	19	malignant neoplasms	textual - does not yield annotated code	C0004135	Ataxia Telangiectasia			
2538	1248000	6	For A-T heterozygotes younger than age 45, the risk of dying from a malignant neoplasm was estimated to be greater than 5 times the risk for the general population.	69	86	18	malignant neoplasm	textual - does not yield annotated code	C0004135	Ataxia Telangiectasia			
2539	1248000	7	A-T heterozygotes may comprise more than 5% of all persons dying from a cancer before age 45.	73	78	6	cancer	textual - yields annotated codes, however, also yields 2 others	C0006826,C1306459 	Malignant Neoplasms, Primary malignant neoplasm			
2540	1248000	8	The incidence of ovarian, gastric, and biliary system carcinomas and of leukemia and lymphoma was increased in these A-T families.	118	120	3	A-T	textual - does not yield annotated code	C0004135	Ataxia Telangiectasia			
2540	1248000	8	The incidence of ovarian, gastric, and biliary system carcinomas and of leukemia and lymphoma was increased in these A-T families.	18	64	47	ovarian, gastric, and biliary system carcinomas	intuitive- list is present, ovarian carcinomas is the entity	C1140680, C0029925	Malignant neoplasm of ovary, Ovarian Carcinoma			
2540	1248000	8	The incidence of ovarian, gastric, and biliary system carcinomas and of leukemia and lymphoma was increased in these A-T families.	27	64	38	gastric, and biliary system carcinomas	intuitive - list is present gastric cancer is the entity	C0699791	Stomach Carcinoma			
2540	1248000	8	The incidence of ovarian, gastric, and biliary system carcinomas and of leukemia and lymphoma was increased in these A-T families.	40	64	25	biliary system carcinomas	textual	C0740476	Biliary carcinoma			
2540	1248000	8	The incidence of ovarian, gastric, and biliary system carcinomas and of leukemia and lymphoma was increased in these A-T families.	73	80	8	leukemia	textual	C0023418	leukemia			
2540	1248000	8	The incidence of ovarian, gastric, and biliary system carcinomas and of leukemia and lymphoma was increased in these A-T families.	86	93	8	lymphoma	textual	C0024299	Lymphoma			
2541	1248000	9	Other neoplasms that may be associated with this gene in heterozygotes include pancreatic, basal cell, colonic, breast, and cervical carcinomas..	7	15	9	neoplasms	textual	C0027651	Neoplasms			
2541	1248000	9	Other neoplasms that may be associated with this gene in heterozygotes include pancreatic, basal cell, colonic, breast, and cervical carcinomas..	80	143	64	pancreatic, basal cell, colonic, breast, and cervical carcinomas	intuitive - list is present	C0235974	Pancreatic carcinoma			
2541	1248000	9	Other neoplasms that may be associated with this gene in heterozygotes include pancreatic, basal cell, colonic, breast, and cervical carcinomas..	92	143	52	basal cell, colonic, breast, and cervical carcinomas	intuitive - list is present	C0007117	Basal cell carcinoma			
2541	1248000	9	Other neoplasms that may be associated with this gene in heterozygotes include pancreatic, basal cell, colonic, breast, and cervical carcinomas..	104	143	40	colonic, breast, and cervical carcinomas	intuitive - list is present	C0699790	Colon Carcinoma			
2541	1248000	9	Other neoplasms that may be associated with this gene in heterozygotes include pancreatic, basal cell, colonic, breast, and cervical carcinomas..	113	143	31	breast, and cervical carcinomas	intuitive - list is present	C0678222, C0007104	Breast Carcinoma, Female Breast Carcinoma			
2541	1248000	9	Other neoplasms that may be associated with this gene in heterozygotes include pancreatic, basal cell, colonic, breast, and cervical carcinomas..	125	143	19	cervical carcinomas	textual	C0302592	Cervix carcinoma			
2542	126380	2	Indentification of genetic marker, HL-A W27, for susceptible persons has provided a tool facilitating epidemiologic studies and allowing identification of control" populations without the marker. "					No annotation					
2543	126380	3	Evaluation by postal questionnaires, and pelvic radiography of 78 HL-A 27W-positive blood donors selected from a group of apparently healthy subjects revealed 14 who satisfied the criteria for definite ankylosing spondylitis.	203	224	22	ankylosing spondylitis	textual	C0038013	Ankylosing spondylitis			
2544	126380	4	The prevalence was similar in both sexes.					No annotation					
2545	126380	5	One hundred and twenty-six W27-negative controls matched for race, sex, and age failed to yield a single case.					No annotation					
2546	126380	6	For a person of either sex with HL-A W27, there appears to be about a 20 per cent chance that ankylosing spondylitis will develop, suggesting a prevalence of 10 to 15 per thousand.	95	116	22	ankylosing spondylitis	textual	C0038013	Ankylosing spondylitis			
2547	126380	7	Hitherto accepted figures may underestimate the frequency by a factor of 10 to 20..					No annotation					
2548	1269174	1	Analbuminemia was fortuitously detected in a nonedematous 12-year-old American Indian girl with atopic dermatitis, mild bronchial asthma, a mild seizure disorder, and hyperlipoproteinemia with a corneal arcus.	1	13	13	Analbuminemia	textual	C0878666	Analbuminemia			
2548	1269174	1	Analbuminemia was fortuitously detected in a nonedematous 12-year-old American Indian girl with atopic dermatitis, mild bronchial asthma, a mild seizure disorder, and hyperlipoproteinemia with a corneal arcus.	97	113	17	atopic dermatitis	textual	C0011615	Dermatitis, Atopic			
2548	1269174	1	Analbuminemia was fortuitously detected in a nonedematous 12-year-old American Indian girl with atopic dermatitis, mild bronchial asthma, a mild seizure disorder, and hyperlipoproteinemia with a corneal arcus.	121	136	16	bronchial asthma	textual	C0004096	Asthma			
2548	1269174	1	Analbuminemia was fortuitously detected in a nonedematous 12-year-old American Indian girl with atopic dermatitis, mild bronchial asthma, a mild seizure disorder, and hyperlipoproteinemia with a corneal arcus.	146	161	16	seizure disorder	textual	C0014544	Epilepsy			
2548	1269174	1	Analbuminemia was fortuitously detected in a nonedematous 12-year-old American Indian girl with atopic dermatitis, mild bronchial asthma, a mild seizure disorder, and hyperlipoproteinemia with a corneal arcus.	168	187	20	hyperlipoproteinemia	textual	C0020476	Hyperlipoproteinemias			
2548	1269174	1	Analbuminemia was fortuitously detected in a nonedematous 12-year-old American Indian girl with atopic dermatitis, mild bronchial asthma, a mild seizure disorder, and hyperlipoproteinemia with a corneal arcus.	196	208	13	corneal arcus	textual	C0003742	Arcus Senilis			
2549	1269174	2	Immunologic methods revealed trace amounts (17 mg/100 ml) of apparently normal serum albumin.					No annotation					
2550	1269174	3	The patient's parents were remotely related.					No annotation					
2551	1269174	4	The pedigree and clinical findings were compatible with autosomal recessive transmission of analbuminemia.					No annotation					
2552	1269174	5	Heterozygotes had subnormal levels of serum albumin.					No annotation					
2553	1269174	6	The Gc-locus is closely linked to the structural albumin locus.					No annotation					
2554	1269174	7	Gc-protein levels were normal in the patient and together with normal chromosomal banding studies make it unlikely that a chromosomal deletion caused analbuminemia.	151	163	13	analbuminemia	textual	C0878666	Analbuminemia			
2555	1269174	8	Gc-types in the family were compatible with, but did not prove, linkage of analbuminemia to the Gc-locus.	76	88	13	analbuminemia	textual	C0878666	Analbuminemia			
2556	1269174	9	These findings suggest a thalassemia"-like mutation for this disorder.. "	26	36	11	thalassemia	textual	C0039730	Thalassemia			
2557	1279971	3	The patient was hemizygous for both the KIT and PDGFRA genes, indicating that both of these genes are included within the deleted region.					No annotation					
2558	1279971	4	Therefore, deletion of the KIT and PDGFRA genes may account for the piebald phenotype in this patient..	69	85	17	piebald phenotype	textual - does not yield annotated code	C0080024	Piebaldism			
2559	1282899	1	Lesch-Nyhan syndrome caused by a complete deficiency of hypoxanthine guanine phosphoribosyltransferase (HPRT) is the result of a heterogeneous group of germ line mutations.	1	20	20	Lesch-Nyhan syndrome	textual	C0023374	Lesch-Nyhan Syndrome			
2559	1282899	1	Lesch-Nyhan syndrome caused by a complete deficiency of hypoxanthine guanine phosphoribosyltransferase (HPRT) is the result of a heterogeneous group of germ line mutations.	43	102	60	deficiency of hypoxanthine guanine phosphoribosyltransferase	intuitive - yields annotated code	C0023374	Lesch-Nyhan Syndrome			
2560	1282899	2	Identification of each mutant gene provides valuable information as to the type of mutation that occurs spontaneously.					No annotation					
2561	1282899	4	This gene, designated HPRT Tokyo, had a single nucleotide change from G to A, as identified by sequencing cDNA amplified by the polymerase chain reaction.					No annotation					
2562	1282899	5	Allele specific oligonucleotide hybridization analysis using amplified genomic DNA showed that the mutant gene was transmitted from the maternal germ line.					No annotation					
2563	1282899	6	This mutation would lead to an amino acid substitution of Asp for Gly at the amino acid position 140 located within the putative 5-phosphoribosyl-1-pyrophosphate (PRPP) binding region.					No annotation					
2564	1282899	7	Missense mutations in human HPRT deficient patients thus far reported tend to accumulate in this functionally active region.	29	42	14	HPRT deficient	intuitive - does not yield annotated code	C0023374	Lesch-Nyhan Syndrome			
2565	1282899	8	However, a comparison of the data suggested that both missense and synonymous mutations can occur at any coding sequence of the human germ line HPRT gene, but that a limited percentage of all the missense mutations cause disease.					No annotation					
2566	1282899	9	The probability that a mutation will cause disease tends to be higher when the missense mutation is within a functionally important sequence..					No annotation					
2567	1301146	1	A new fragile site (FRAXE) in Xq28 is described.					No annotation					
2568	1301146	2	It appears to be a typical folate sensitive fragile site.					No annotation					
2569	1301146	3	The fragile site is not associated with mental retardation, it does not give abnormal results when subjected to Southern analysis with probe pfxa3 which detects the unstable DNA sequence characteristic of fragile X syndrome.	41	58	18	mental retardation	textual	C0025362	Mental Retardation			
2569	1301146	3	The fragile site is not associated with mental retardation, it does not give abnormal results when subjected to Southern analysis with probe pfxa3 which detects the unstable DNA sequence characteristic of fragile X syndrome.	206	223	18	fragile X syndrome	textual	C0016667	Fragile X Syndrome			
2570	1301146	4	In situ hybridization mapping locates the fragile site between 150 kb and 600 kb distal to FRAXA.					No annotation					
2571	1301146	5	The distinction between the two fragile sites is important clinically since cytogenetic detection of FRAXE, without molecular analysis, could result in misdiagnosis of fragile X syndrome..	169	186	18	fragile X syndrome	textual	C0016667	Fragile X Syndrome			
2572	1301161	1	Norrie disease is a human X-linked recessive disorder of unknown etiology characterized by congenital blindness, sensory neural deafness and mental retardation.	1	14	14	Norrie disease	textual	C0266526	NORRIE DISEASE			
2572	1301161	1	Norrie disease is a human X-linked recessive disorder of unknown etiology characterized by congenital blindness, sensory neural deafness and mental retardation.	21	53	33	human X-linked recessive disorder	could not find suitable umls code					
2572	1301161	1	Norrie disease is a human X-linked recessive disorder of unknown etiology characterized by congenital blindness, sensory neural deafness and mental retardation.	92	111	20	congenital blindness	textual	C0005754	Congenital blindness			
2572	1301161	1	Norrie disease is a human X-linked recessive disorder of unknown etiology characterized by congenital blindness, sensory neural deafness and mental retardation.	114	136	23	sensory neural deafness	textual	C0018784	Sensorineural Hearing Loss			
2572	1301161	1	Norrie disease is a human X-linked recessive disorder of unknown etiology characterized by congenital blindness, sensory neural deafness and mental retardation.	142	159	18	mental retardation	textual	C0025362	Mental Retardation			
2573	1301161	10	Together these data define the obligate region containing the NDP gene to a chromosomal segment less than 150 kb..					No annotation					
2574	1301161	2	This disease gene was previously linked to the DXS7 (L1.28) locus and the MAO genes in band Xp11.3.					No annotation					
2575	1301161	3	We report here fine physical mapping of the obligate region containing the Norrie disease gene (NDP) defined by a recombination and by the smallest submicroscopic chromosomal deletion associated with Norrie disease identified to date.	76	89	14	Norrie disease	textual	C0266526	NORRIE DISEASE		***	
2575	1301161	3	We report here fine physical mapping of the obligate region containing the Norrie disease gene (NDP) defined by a recombination and by the smallest submicroscopic chromosomal deletion associated with Norrie disease identified to date.	201	214	14	Norrie disease	textual	C0266526	NORRIE DISEASE			
2576	1301161	4	Analysis, using in addition two overlapping YAC clones from this region, allowed orientation of the MAOA and MAOB genes in a 5'-3'-3'-5' configuration.					No annotation					
2577	1301161	5	A recombination event between a (GT)n polymorphism in intron 2 of the MAOB gene and the NDP locus, in a family previously reported to have a recombination between DXS7 and NDP, delineates a flanking marker telomeric to this disease gene.					No annotation					
2578	1301161	6	An anonymous DNA probe, dc12, present in one of the YACs and in a patient with a submicroscopic deletion which includes MAOA and MAOB but not L1.28, serves as a flanking marker centromeric to the disease gene.					No annotation					
2579	1301161	7	An Alu-PCR fragment from the right arm of the MAO YAC (YMAO.AluR) is not deleted in this patient and also delineates the centromeric extent of the obligate disease region.					No annotation					
2580	1301161	8	The apparent order of these loci is telomere ...					No annotation					
2581	1301161	9	DXS7-MAOA-MAOB-NDP-dc12-YMAO.AluR ...					No annotation					
2582	1301187	1	Mutations in the human phenylalanine hydroxylase gene producing phenylketonuria or hyperphenylalaninemia have now been identified in many patients from various ethnic groups.	65	79	15	phenylketonuria	textual - yields annotated code and 1 alternative	C0031485	Phenylketonurias	Classical phenylketonuria [C0751434]		
2582	1301187	1	Mutations in the human phenylalanine hydroxylase gene producing phenylketonuria or hyperphenylalaninemia have now been identified in many patients from various ethnic groups.	84	104	21	hyperphenylalaninemia	textual	C0751435	Hyperphenylalaninaemia			
2583	1301187	2	These mutations all exhibit a high degree of association with specific restriction fragment-length polymorphism haplotypes at the PAH locus.					No annotation					
2584	1301187	3	About 50 of these mutations are single-base substitutions, including six nonsense mutations and eight splicing mutations, with the remainder being missense mutations.					No annotation					
2585	1301187	4	One splicing mutation results in a 3 amino acid in-frame insertion.					No annotation					
2586	1301187	5	Two or 3 large deletions, 2 single codon deletions, and 2 single base deletions have been found.					No annotation					
2587	1301187	6	Twelve of the missense mutations apparently result from the methylation and subsequent deamination of highly mutagenic CpG dinucleotides.					No annotation					
2588	1301187	7	Recurrent mutation has been observed at several of these sites, producing associations with different haplotypes in different populations.					No annotation					
2589	1301187	8	About half of all missense mutations have been examined by in vitro expression analysis, and a significant correlation has been observed between residual PAH activity and disease phenotype.					No annotation					
2590	1301187	9	Since continuing advances in molecular methodologies have dramatically accelerated the rate in which new mutations are being identified and characterized, this register of mutations will be updated periodically..					No annotation					
2591	1301189	1	The mutation causing juvenile Tay-Sachs disease (TSD) in two sibs of Lebanese-Maronite origin is described.	50	52	3	TSD	textual  - yields annotated code	C0039373	Tay-Sachs Disease			
2591	1301189	1	The mutation causing juvenile Tay-Sachs disease (TSD) in two sibs of Lebanese-Maronite origin is described.	31	47	17	Tay-Sachs disease	textual	C0039373	Tay-Sachs Disease			
2592	1301189	2	An mRNA-containing extract of cultured fibroblasts obtained from one of the probands was used as a template to amplify the coding sequence of the hexosaminidase A (Hex A) alpha-subunit.					No annotation					
2593	1301189	3	Sequencing of amplified cDNA fragments revealed a single alteration, guanine to adenine at nt 749 creating a G250D mutation.					No annotation					
2594	1301189	4	The mutation introduces a new recognition site for the restriction enzyme Eco RV, permitting identification of heterozygotes for this allele following PCR amplification and Eco RV digestion of exon 7 sequences from genomic DNA templates.					No annotation					
2595	1301189	5	In order to test the effect of this substitution, an in vitro mutagenized cDNA construct was introduced into a mammalian expression vector and transfected into monkey Cos-1 cells separately or along with a beta-cDNA expression vector.					No annotation					
2596	1301189	6	When the mutant alpha-cDNA was the only gene introduced into COS cells no enzymatic activity above endogenous COS cell activity was detected.					No annotation					
2597	1301189	7	Cotransfection of normal alpha-cDNA and beta-cDNA followed by immunoprecipitation of human Hex A resulted in 20-fold increase in the ratio between positive and negative (mock transfection) control values.					No annotation					
2598	1301189	8	This allowed the detection of some residual activity (12% of the positive control) when the mutant alpha-cDNA replaced its wild-type counterpart.					No annotation					
2599	1301189	9	The predicted protein environment in which the mutation occurs is compared to that of the adult-onset Tay-Sachs disease mutation caused by a Gly269-->Ser substitution in exon 7. ABSTRACT TRUNCATED AT 250 WORDS.	103	119	17	Tay-Sachs disease	textual	C0039373	Tay-Sachs Disease			
2600	1301190	10	When the site-specific mutagenized alpha cDNA carrying the T-->C transition at nt 1453 was expressed in COS 1 cells hexosaminidase S activity was not detectable above background.					No annotation					
2601	1301190	11	A G-->A transition at nt 1444 (exon 13) corresponding to the E482K substitution was found in the third family.					No annotation					
2602	1301190	12	This mutation occurs at a CpG dinucleotide.					No annotation					
2604	1301190	2	Novel mutations were found in two of these families.					No annotation					
2605	1301190	3	The third is a previously reported mutation (G-->A transition at nt 1444) Nakano et al., 1988.					No annotation					
2606	1301190	4	Direct sequencing of PCR products identified a novel insertion of an A after nt 547 in family 1.					No annotation					
2607	1301190	5	This change generates an early termination codon 6 bp downstream from the insertion site.					No annotation					
2608	1301190	6	Allele-specific oligonucleotide hybridization confirmed homozygosity in the proband.					No annotation					
2609	1301190	7	Single strand conformational polymorphism analysis and direct sequencing of amplified exon 13 revealed a T-->C transition at nt 1453 with the corresponding amino acid substitution W485R in the second family.					No annotation					
2610	1301190	8	This mutation creates an Fnu4HI restriction site.					No annotation					
2611	1301190	9	The proband is homozygous for this allele.					No annotation					
2612	1301200	1	The genetic defects responsible for most phenylketonuria (PKU) and hyperphenylalaninemia (HPA) cases are located in the phenylalanine hydroxylase (PAH) gene.	59	61	3	PKU	textual - yields annotated code and 1 alternative	C0031485	Phenylketonurias	Classical phenylketonuria [C0751434]		
2612	1301200	1	The genetic defects responsible for most phenylketonuria (PKU) and hyperphenylalaninemia (HPA) cases are located in the phenylalanine hydroxylase (PAH) gene.	91	93	3	HPA	textual - does not yield annotated code	C0751435	Hyperphenylalaninaemia			
2612	1301200	1	The genetic defects responsible for most phenylketonuria (PKU) and hyperphenylalaninemia (HPA) cases are located in the phenylalanine hydroxylase (PAH) gene.	42	56	15	phenylketonuria	textual - yields annotated code and 1 alternative	C0031485	Phenylketonurias	Classical phenylketonuria [C0751434]		
2612	1301200	1	The genetic defects responsible for most phenylketonuria (PKU) and hyperphenylalaninemia (HPA) cases are located in the phenylalanine hydroxylase (PAH) gene.	68	88	21	hyperphenylalaninemia	textual	C0751435	Hyperphenylalaninaemia			
2613	1301200	2	Approximately 50-60 mutations have been reported in Caucasians and are reflected in a wide range of clinical severities.					No annotation					
2614	1301200	3	Most mutations are linked to specific haplotypes, as defined by eight polymorphic restriction sites in the PAH gene.					No annotation					
2615	1301200	4	We hypothesized that there is at least one mild mutation linked to haplotype 12 in the Swedish PKU/HPA population, since 7 of 8 patients carrying haplotype 12 had mild HPA.	96	98	3	PKU	textual - yields annotated code and 1 alternative	C0031485	Phenylketonurias	Classical phenylketonuria [C0751434]		
2615	1301200	4	We hypothesized that there is at least one mild mutation linked to haplotype 12 in the Swedish PKU/HPA population, since 7 of 8 patients carrying haplotype 12 had mild HPA.	100	102	3	HPA	textual - does not yield annotated code	C0751435	Hyperphenylalaninaemia			
2615	1301200	4	We hypothesized that there is at least one mild mutation linked to haplotype 12 in the Swedish PKU/HPA population, since 7 of 8 patients carrying haplotype 12 had mild HPA.	169	171	3	HPA	textual - does not yield annotated code	C0751435	Hyperphenylalaninaemia			
2616	1301200	5	Sequence analysis revealed a C-to-G transversion at the second base of codon 322, resulting in a substitution of glycine for alanine, in four mutant haplotype 12 genes, and a G-to-A transition at the second base of codon 408, resulting in a substitution of glutamine for arginine, in another three mutant haplotype 12 genes.					No annotation					
2617	1301200	6	These mutations segregated with mutant haplotype 12 alleles in nuclear families but were not present on normal or other mutant alleles.					No annotation					
2618	1301200	7	Both mutations were tested in a eukaryotic expression system in which enzyme activities of different mutant PAH enzymes reflect the relative severities of the mutations, although these in vitro activities cannot be translated directly into in vivo hepatic activities.					No annotation					
2619	1301200	8	The A322G mutant PAH had about 75% and the R408Q mutant PAH about 55% of the wild-type PAH enzyme activity.					No annotation					
2620	1301200	9	These in vitro activities are the highest reported for mutant PAH enzymes produced in the same expression system. ABSTRACT TRUNCATED AT 250 WORDS.					No annotation					
2621	1301201	1	Mutations at the phenylalanine hydroxylase (PAH) locus are the major cause of hyperphenylalaninemia.	79	99	21	hyperphenylalaninemia	textual	C0751435	Hyperphenylalaninaemia			
2622	1301201	2	We have previously described four mutations (M1V, IVS12nt1, R408W, and S349P) at the PAH locus in French Canadians with ancestry in eastern Quebec.					No annotation					
2624	1301201	4	Homozygosity for M1V and codominant inheritance of I65T/R408W were both associated with classical phenylketonuria..	89	113	25	classical phenylketonuria	textual	C0751434	Classical phenylketonuria			
2626	1301937	3	Clinical and biochemical evidence suggested that the increased carrier frequency was due to at least two altered alleles for the hexosaminidase A alpha-subunit.					No annotation					
2627	1301937	4	We now report two mutant alleles in this Pennsylvania Dutch kindred, and one polymorphism.					No annotation					
2628	1301937	5	One allele, reported originally in a French TSD patient (Akli et al., 1991), is a GT-->AT transition at the donor splice-site of intron 9.	45	47	3	TSD	textual  - yields annotated code	C0039373	Tay-Sachs Disease			
2629	1301937	6	The second, a C-->T transition at nucleotide 739 (Arg247Trp), has been shown by Triggs-Raine et al.					No annotation					
2630	1301937	7	(1992) to be a clinically benign pseudodeficient" allele associated with reduced enzyme activity against artificial substrate. "					No annotation					
2631	1301937	8	Finally, a polymorphism G-->A 759 , which leaves valine at codon 253 unchanged, is described..					No annotation					
2632	1301938	10	Together with a recently identified allele responsible for Hex A pseudodeficiency Triggs-Raine et al.					No annotation					
2633	1301938	11	Am J Hum Genet, 1992 , these two alleles accounted for almost 50% (29/64) of TSD or carrier alleles ascertained by enzyme screening tests in non-Jewish Caucasians..	78	80	3	TSD	textual  - yields annotated code	C0039373	Tay-Sachs Disease		***	
2634	1301938	2	We have discovered that a Tay-Sachs mutation, IVS-9 + 1 G-->A, first detected by Akli et al.	27	35	9	Tay-Sachs	textual  - yields annotated code	C0039373	Tay-Sachs Disease		***	
2635	1301938	3	(Genomics 11:124-134, 1991), is a common disease allele in non-Jewish Caucasians 10/58 alleles examined.					No annotation					
2636	1301938	4	A PCR-based diagnostic test, which detects an NlaIII site generated by the mutation, revealed a frequency among enzyme-defined carriers of 9/64 14%.					No annotation					
2637	1301938	5	Most of those carrying the allele trace their origins to the United Kingdom, Ireland, or Western Europe.					No annotation					
2639	1301938	7	No normally spliced RNA was detected in PCR products generated from reverse transcription of RNA carrying the IVS-9 mutation.					No annotation					
2640	1301938	8	Instead, the low levels of mRNA from this allele were comprised of aberrant species resulting from the use of either of two cryptic donor sites, one truncating exon 9 and the other within IVS-9, spliced to exon 10.					No annotation					
2641	1301938	9	Numerous additional splice products were detected, most involving skipping of one or more surrounding exons.					No annotation					
2642	1302003	2	In Finland, there are more than 120 living CHM patients belonging to eight apparently unrelated pedigrees.	44	46	3	CHM	textual  - yields annotated code	C0008525	Choroideremia			
2644	1302003	4	We have screened the remaining five families for point mutations.					No annotation					
2645	1302003	5	In one large family a single nucleotide (T) insertion into the donor splice site of exon C leads to two aberrantly spliced mRNAs both producing a premature stop codon.					No annotation					
2646	1302003	6	The mutation can be assayed easily by amplification and digestion with Msel.					No annotation					
2647	1302003	7	Our findings provide additional evidence for the pathogenetic role of CHM mutations and provide a diagnostic tool for one fifth of the world's known CHM patients..	150	152	3	CHM	textual  - yields annotated code	C0008525	Choroideremia			
2648	1302008	1	Denys-Drash syndrome is a rare human developmental disorder affecting the urogenital system and leading to renal failure, intersex disorders and Wilms' tumour.	1	20	20	Denys-Drash syndrome		C0950121	Denys-Drash Syndrome			
2648	1302008	1	Denys-Drash syndrome is a rare human developmental disorder affecting the urogenital system and leading to renal failure, intersex disorders and Wilms' tumour.	38	59	22	developmental disorder	Could not find suitable UMLS code					
2648	1302008	1	Denys-Drash syndrome is a rare human developmental disorder affecting the urogenital system and leading to renal failure, intersex disorders and Wilms' tumour.	108	120	13	renal failure	textual - yields annotated code	C0035078	Kidney Failure			
2648	1302008	1	Denys-Drash syndrome is a rare human developmental disorder affecting the urogenital system and leading to renal failure, intersex disorders and Wilms' tumour.	123	140	18	intersex disorders	intuitive - intersex term, not used anymore	C0036875	Sex Differentiation Disorders			
2648	1302008	1	Denys-Drash syndrome is a rare human developmental disorder affecting the urogenital system and leading to renal failure, intersex disorders and Wilms' tumour.	146	158	13	Wilms' tumour	textual - yields annotated code	C0027708	Nephroblastoma			
2649	1302008	2	In this report, four individuals with this syndrome are described carrying germline point mutations in the Wilms' tumour suppressor gene, WT1.	108	120	13	Wilms' tumour	textual - yields annotated code	C0027708	Nephroblastoma		***	
2650	1302008	3	Three of these mutations were in the zinc finger domains of WT1.					No annotation					
2651	1302008	4	The fourth occurred within intron 9, preventing splicing at one of the alternatively chosen splice donor sites of exon 9 when assayed in vitro.					No annotation					
2652	1302008	5	These results provide genetic evidence for distinct functional roles of the WT1 isoforms in urogenital development..					No annotation					
2653	1302022	1	The mutation underlying myotonic dystrophy (DM) has been identified as an expansion of a polymorphic CTG-repeat in a gene encoding protein kinase activity.	45	46	2	DM	textual - yields annotated code and 5 others	C0027126	Myotonic Dystrophy			
2653	1302022	1	The mutation underlying myotonic dystrophy (DM) has been identified as an expansion of a polymorphic CTG-repeat in a gene encoding protein kinase activity.	25	42	18	myotonic dystrophy	textual - yields annotated code	C0027126	Myotonic Dystrophy			
2654	1302022	2	Brain and heart transcripts of the DM-kinase (DMR-B15) gene are subject to alternative RNA splicing in both human and mouse.					No annotation					
2655	1302022	3	The unstable CTG 5-30 motif is found uniquely in humans, although the flanking nucleotides are also present in mouse.					No annotation					
2657	1302022	5	DMR-N9 transcripts, mainly expressed in brain and testis, possess a single, large open reading frame, but the function of its protein product is unknown.					No annotation					
2658	1302022	6	Clinical manifestation of DM may be caused by the expanded CTG-repeat compromising the (alternative) expression of DM-kinase or DMR-N9 proteins..	27	28	2	DM	textual - yields annotated code and 5 others	C0027126	Myotonic Dystrophy		***	
2659	1302032	1	We describe a patient with typical clinical features of the fragile X syndrome, but without cytogenetic expression of the fragile X or an amplified CCG trinucleotide repeat fragment.	61	78	18	fragile X syndrome	textual	C0016667	Fragile X Syndrome			
2660	1302032	2	The patient has a previously uncharacterized submicroscopic deletion encompassing the CCG repeat, the entire FMR1 gene and about 2.5 megabases of flanking sequences.					No annotation					
2661	1302032	3	This finding confirms that the fragile X phenotype can exist, without amplification of the CCG repeat or cytogenetic expression of the fragile X, and that fragile X syndrome is a genetically homogeneous disorder involving FMR1.	156	173	18	fragile X syndrome	textual	C0016667	Fragile X Syndrome			
2662	1302032	4	We also found random X-inactivation in the mother of the patient who was shown to be a carrier of this deletion..					No annotation					
2663	1303170	1	The gene responsible for Huntington disease has been localized to a 2.5 million base pair (Mb) region between the loci D4S10 and D4S168 on the short arm of chromosome 4.	26	43	18	Huntington disease	textual	C0020179	Huntington Disease			
2664	1303170	2	As part of a strategy to clone the HD gene on the basis of its chromosomal location, we isolated genomic DNA from the HD region as a set of overlapping yeast artificial chromosome (YAC) clones.					No annotation					
2665	1303170	3	Twenty-eight YAC clones were identified by screening human YAC libraries with twelve PCR-based sequence-tagged sites (STSs) from the region.					No annotation					
2666	1303170	4	We assembled the YAC clones into overlapping sets by hybridizing them to a large number of DNA probes from the HD region, including the STSs.					No annotation					
2667	1303170	5	In addition, we isolated the ends of the human DNA inserts of most of the YAC clones to assist in the construction of the contig.					No annotation					
2668	1303170	6	Although almost half of the YACs appear to contain chimeric inserts and several contain internal deletions or other rearrangements, we were able to obtain over 2.2 Mb of the HD region in YACs, including one continuous segment of 2.0 Mb covering the region that most likely contains the HD gene.					No annotation					
2669	1303170	7	Ten of the twenty eight YAC clones comprise a minimal set spanning the 2.2 Mb.					No annotation					
2670	1303170	8	These clones provide reagents for the complete characterization of this region of the genome and for the eventual isolation of the HD gene..					No annotation					
2671	1303171	1	It has been shown from pulsed-field gel electrophoresis (PFGE) that the monoamine oxidase genes A and B (MAOA & MAOB) and DXS7 loci are physically very close.					No annotation					
2672	1303171	2	We have therefore extended studies on their relationship through the characterisation of a 650 kb YAC isolated using L1.28 (recognising the DXS7 locus) as a probe.					No annotation					
2673	1303171	3	Restriction mapping of the YAC indicates that it contains both MAOA and MAOB genes in addition to the DXS7 locus.					No annotation					
2674	1303171	4	The map derived from the YL1.28-YAC is compatible both with the map from an independently derived YAC carrying MAOA and B genes and with the long range genomic map for the region.					No annotation					
2675	1303171	5	A series of subclones prepared from a 'phage library (lambda DASH II) of the YAC have been characterised and have been employed to determine the end point of the deletion of a Norrie disease (NDP) patient who has been shown to lack both DXS7 and MAO coding sequences.	193	195	3	NDP	textual - does not yield annotated code	C0266526	NORRIE DISEASE			
2675	1303171	5	A series of subclones prepared from a 'phage library (lambda DASH II) of the YAC have been characterised and have been employed to determine the end point of the deletion of a Norrie disease (NDP) patient who has been shown to lack both DXS7 and MAO coding sequences.	177	190	14	Norrie disease	textual	C0266526	NORRIE DISEASE			
2676	1303171	6	The pattern of retention of subclones in the deletion patient place the end point of the deletion within 30-130 kb of the proximal end of the YAC.					No annotation					
2678	1303173	1	The high prevalence of glucose 6-phosphate dehydrogenase (G6PD) deficiency in African populations is due almost entirely to the enzyme variant A-, which differs from the wild-type G6PD B by two amino acid replacements, 68 Val-->Met and 126 Asn-->Asp.	24	74	51	glucose 6-phosphate dehydrogenase (G6PD) deficiency	textual - yields annotated code	C0017920	Glycogen Storage Disease Type I			
2679	1303173	10	Comparable results were produced when the replacement 119 Gln-->Glu was studied instead of 126 Asn-->Asp.					No annotation					
2680	1303173	11	We infer that the coexistence of the two mutations is responsible for enzyme deficiency in G6PD A- because they act synergistically in causing instability of the enzyme..	71	87	17	enzyme deficiency	textual	C0149676	Enzyme Deficiency			
2681	1303173	2	The non-deficient polymorphic variant G6PD A contains only the mutation 126 Asn-->Asp.					No annotation					
2682	1303173	3	The frequencies of the G6PD A and of the G6PD A- genes in parts of Africa are both about 0.2.					No annotation					
2683	1303173	4	The 68 Val-->Met mutation has not been found in a B background.					No annotation					
2684	1303173	6	We have approached this question by producing G6PD B, A, A-, and G6PD 68 Val-->Met in a bacterial expression system and analysing their biochemical properties.					No annotation					
2685	1303173	8	When both mutations were introduced together, there was a roughly additive effect on specific activity, but a much more drastic effect on enzyme yield 4% of normal.					No annotation					
2686	1303173	9	This synergistic effect was also demonstrated on thermal stability, especially at low NADP concentrations.					No annotation					
2687	1303277	1	Prader-Willi syndrome (PWS) is associated with paternally derived chromosomal deletions in region 15q11-13 or with maternal disomy for chromosome 15.	24	26	3	PWS	textual	C0032897	Prader-Willi Syndrome			
2687	1303277	1	Prader-Willi syndrome (PWS) is associated with paternally derived chromosomal deletions in region 15q11-13 or with maternal disomy for chromosome 15.	1	21	21	Prader-Willi syndrome	textual	C0032897	Prader-Willi Syndrome			
2688	1303277	2	Therefore, loss of the expressed paternal alleles of maternally imprinted genes must be responsible for the PWS phenotype.	109	111	3	PWS	textual	C0032897	Prader-Willi Syndrome		***	
2689	1303277	3	We have mapped the gene encoding the small nuclear RNA associated polypeptide SmN (SNRPN) to human chromosome 15q12 and a processed pseudogene SNRPNP1 to chromosome region 6pter-p21.					No annotation					
2690	1303277	4	Furthermore, SNRPN was mapped to the minimal deletion interval that is critical for PWS.	85	87	3	PWS	textual	C0032897	Prader-Willi Syndrome			
2691	1303277	5	The fact that the mouse Snrpn gene is maternally imprinted in brain suggests that loss of the paternally derived SNRPN allele may be involved in the PWS phenotype..	150	152	3	PWS	textual	C0032897	Prader-Willi Syndrome		***	
2692	1307230	1	A study was undertaken to characterize the mutation(s) responsible for Tay-Sachs disease (TSD) in a Cajun population in southwest Louisiana and to identify the origins of these mutations.	91	93	3	TSD	textual - yields annotated code	C0039373	Tay-Sachs Disease			
2692	1307230	1	A study was undertaken to characterize the mutation(s) responsible for Tay-Sachs disease (TSD) in a Cajun population in southwest Louisiana and to identify the origins of these mutations.	72	88	17	Tay-Sachs disease	textual	C0039373	Tay-Sachs Disease			
2694	1307230	3	The mutation in the remaining allele was a single-base transition in the donor splice site of the alpha-subunit intron 9.					No annotation					
2695	1307230	4	To determine the origins of these two mutations in the Cajun population, the TSD carrier status was enzymatically determined for 90 members of four of the six families, and extensive pedigrees were constructed for all carriers.	78	80	3	TSD	textual - yields annotated code	C0039373	Tay-Sachs Disease			
2696	1307230	5	A single ancestral couple from France was found to be common to most of the carriers of the exon 11 insertion.					No annotation					
2697	1307230	6	Pedigree data suggest that this mutation has been in the Cajun population since its founding over 2 centuries ago and that it may be widely distributed within the population.					No annotation					
2698	1307230	7	In contrast, the intron 9 mutation apparently was introduced within the last century and probably is limited to a few Louisiana families..					No annotation					
2699	1307245	1	Recently, we and others have isolated a candidate gene for X linked Norrie disease (ND) which was found to be deleted or disrupted in several patients.	85	86	2	ND	textual - yields annotated code and 2 others	C0266526	NORRIE DISEASE			
2699	1307245	1	Recently, we and others have isolated a candidate gene for X linked Norrie disease (ND) which was found to be deleted or disrupted in several patients.	69	82	14	Norrie disease	textual	C0266526	NORRIE DISEASE			
2701	1307245	3	In 17 unrelated patients and 15 controls, PCR products derived from the promoter region, exons 1 and 2 as well as the coding part of exon 3 were analysed with the single strand conformation polymorphism (SSCP) technique.					No annotation					
2702	1307245	4	In 12 patients altered PCR fragments were detected which were studied in detail by direct sequencing.					No annotation					
2703	1307245	5	Eleven different mutations were found, and all but one are likely to give rise to significant structural changes in the predicted protein.					No annotation					
2704	1307245	6	These findings, and the absence of functionally relevant base changes in healthy controls, emphasize the causal role of this candidate gene in Norrie disease and pave the way for reliable diagnosis and carrier detection..	144	157	14	Norrie disease	textual	C0266526	NORRIE DISEASE			
2705	1307253	1	A combination of multiplex PCR with the single strand conformation polymorphism (SSCP) technique was employed to screen for point mutations in the human dystrophin gene.					No annotation					
2706	1307253	2	Co-amplification of 11 exons from genomic DNA of Duchenne and Becker muscular dystrophy (DMD/BMD) patients with no deletion or duplication was performed and the samples subjected to multiple SSCP analysis.	90	92	3	DMD	textual - yields annotated code and 1 others	C0013264	Muscular Dystrophy, Duchenne			
2706	1307253	2	Co-amplification of 11 exons from genomic DNA of Duchenne and Becker muscular dystrophy (DMD/BMD) patients with no deletion or duplication was performed and the samples subjected to multiple SSCP analysis.	94	96	3	BMD	textual - yields annotated code and 2 others	C0917713	Becker Muscular Dystrophy			
2706	1307253	2	Co-amplification of 11 exons from genomic DNA of Duchenne and Becker muscular dystrophy (DMD/BMD) patients with no deletion or duplication was performed and the samples subjected to multiple SSCP analysis.	50	87	38	Duchenne and Becker muscular dystrophy	intuitive - list is present, a query of Duchenne muscular dystrophy yields annotated code	C0013264	Muscular Dystrophy, Duchenne			
2706	1307253	2	Co-amplification of 11 exons from genomic DNA of Duchenne and Becker muscular dystrophy (DMD/BMD) patients with no deletion or duplication was performed and the samples subjected to multiple SSCP analysis.	63	87	25	Becker muscular dystrophy	textual	C0917713	Becker Muscular Dystrophy			
2707	1307253	3	We report the case of a nonsense mutation in a Duchenne patient identified by this approach.	48	55	8	Duchenne	intuitive -   implies a patient with Duchenne muscular dystrophy	C0013264	Muscular Dystrophy, Duchenne			
2708	1307253	4	The mutation introduces a termination codon within exon 8 of the dystrophin gene.					No annotation					
2709	1307253	5	It is predicted to cause a very premature translational termination accounting for the severe phenotype observed.					No annotation					
2710	1307253	6	The patient inherited this mutation from his mother.					No annotation					
2711	1307253	7	In addition the analysis revealed 5 polymorphisms useful for internal control..					No annotation					
2712	1311721	1	High level expression of the nm23-H1 gene, which encodes for a nucleoside diphosphate kinase, has been found to correlate with diminished metastasis in some tumors but not in others.	158	163	6	tumors	textual	C0027651	Neoplasms			
2713	1311721	2	We have previously identified the protein product of the nm23-H1 gene in two-dimensional electrophoretic gels and have designated it p19/nm23.					No annotation					
2714	1311721	4	Because of the variable expression of nm23-H1 in different tumors, we have investigated the relationship between amounts of the protein and cell proliferation.	60	65	6	tumors	textual	C0027651	Neoplasms			
2715	1311721	5	The levels of p19/nm23 were compared between resting and mitotically stimulated normal human PBLs and in leukemia cells.	106	113	8	leukemia	textual	C0023418	leukemia			
2716	1311721	6	The amount of p19/nm23 increased in normal lymphocytes in response to mitotic stimulation and paralleled the increase in DNA synthesis.					No annotation					
2717	1311721	7	In leukemia cells obtained from patients with different subtypes of acute leukemia, p19/nm23 levels were also increased relative to resting normal lymphocytes.	4	11	8	leukemia	textual	C0023418	leukemia			
2717	1311721	7	In leukemia cells obtained from patients with different subtypes of acute leukemia, p19/nm23 levels were also increased relative to resting normal lymphocytes.	69	82	14	acute leukemia	textual	C0085669	Acute leukemia			
2718	1311721	8	Treatment of mitotically stimulated lymphocytes with cyclosporin, which inhibits proliferation, blocked the increase in p19/nm23; treatment of the leukemia cell line HL-60 with dimethylsulfoxide, which induces terminal differentiation, resulted in diminished levels of p19/nm23.	148	155	8	leukemia	textual	C0023418	leukemia		***	
2719	1311721	9	Our data therefore provide evidence that nm23-H1 expression is related to cell proliferative activity..					No annotation					
2720	1313112	1	We report familial adenomatous polyposis coli (FAPC) with epidermoid cysts, osteomata, and areas of congenital hypertrophy of the retinal pigment epithelium (CHRPEs) in a male patient and his maternal aunt, both of whom suffered a mild to moderate degree of mental handicap.	48	51	4	FAPC	textual - does not yield annotated code	C0032580	Adenomatous Polyposis Coli			
2720	1313112	1	We report familial adenomatous polyposis coli (FAPC) with epidermoid cysts, osteomata, and areas of congenital hypertrophy of the retinal pigment epithelium (CHRPEs) in a male patient and his maternal aunt, both of whom suffered a mild to moderate degree of mental handicap.	11	45	35	familial adenomatous polyposis coli	textual - yields annotated code	C0032580	Adenomatous Polyposis Coli			
2720	1313112	1	We report familial adenomatous polyposis coli (FAPC) with epidermoid cysts, osteomata, and areas of congenital hypertrophy of the retinal pigment epithelium (CHRPEs) in a male patient and his maternal aunt, both of whom suffered a mild to moderate degree of mental handicap.	59	74	16	epidermoid cysts	textual	C0014511	Epithelial cyst			
2720	1313112	1	We report familial adenomatous polyposis coli (FAPC) with epidermoid cysts, osteomata, and areas of congenital hypertrophy of the retinal pigment epithelium (CHRPEs) in a male patient and his maternal aunt, both of whom suffered a mild to moderate degree of mental handicap.	77	85	9	osteomata	textual	C0029440	Osteoma			
2720	1313112	1	We report familial adenomatous polyposis coli (FAPC) with epidermoid cysts, osteomata, and areas of congenital hypertrophy of the retinal pigment epithelium (CHRPEs) in a male patient and his maternal aunt, both of whom suffered a mild to moderate degree of mental handicap.	101	156	56	congenital hypertrophy of the retinal pigment epithelium	textual - yields annotated code	C0339555	Congenital hypertrophy of retinal pigment epithelium			
2720	1313112	1	We report familial adenomatous polyposis coli (FAPC) with epidermoid cysts, osteomata, and areas of congenital hypertrophy of the retinal pigment epithelium (CHRPEs) in a male patient and his maternal aunt, both of whom suffered a mild to moderate degree of mental handicap.	159	164	6	CHRPEs	textual - does not yield annotated code	C0339555	Congenital hypertrophy of retinal pigment epithelium			
2720	1313112	1	We report familial adenomatous polyposis coli (FAPC) with epidermoid cysts, osteomata, and areas of congenital hypertrophy of the retinal pigment epithelium (CHRPEs) in a male patient and his maternal aunt, both of whom suffered a mild to moderate degree of mental handicap.	259	273	15	mental handicap	textual - does not yield annotated code	C0025362	Mental Retardation			
2721	1313112	2	Both had an interstitial deletion of the long arm of chromosome 5 del 5 q22q23.2.					No annotation					
2722	1313112	3	Two other normal family members had the underlying direct insertion of chromosome 5 dir ins 5 q31.3q22q23.2.					No annotation					
2723	1313112	4	Molecular genetic and fluorescent hybridisation studies have shown that loci D5S37 and D5S98 are outside the deletion whereas loci detected by probes EF5.44 and YN5.48 are lost.					No annotation					
2724	1313112	5	As expected, the molecular analyses indicate loss of one allele at the MCC and APC loci.					No annotation					
2725	1313112	6	The APC gene is located within band 5q22.					No annotation					
2726	1313112	7	Familial direct insertions should be considered as a cause of recurrent microdeletion syndromes..					No annotation					
2727	1315306	1	The retinal degeneration mouse (gene symbol, rd) is an animal model for certain forms of human hereditary retinopathies.	5	24	20	retinal degeneration	textual	C0035304	Retinal Degeneration			
2727	1315306	1	The retinal degeneration mouse (gene symbol, rd) is an animal model for certain forms of human hereditary retinopathies.	107	119	13	retinopathies	textual	C0035309	Retinal Diseases			
2728	1315306	2	Recent findings of a nonsense mutation in the rd mouse PDE beta-subunit gene (Pdeb) prompted us to investigate the chromosome locations of the mouse and human genes.					No annotation					
2729	1315306	3	We have utilized backcross analysis in mice to verify and define more precisely the location of the Pdeb locus 6.1 +/- 2.3 cM distal of Mgsa on mouse chromosome 5.					No annotation					
2730	1315306	4	We have determined that the human gene (PDEB) maps to 4p16.3, very close to the Huntington disease (HD) region.	81	98	18	Huntington disease	textual	C0020179	Huntington Disease			
2733	1316718	1	A 24 year old male with a history of eczema, recurrent mild infections, and thrombocytopenia consistent with the Wiskott-Aldrich syndrome (WAS) presented with a mediastinal mass, generalized lymphadenopathy, splenomegaly, and severe thrombocytopenia.	140	142	3	WAS	textual - yields annotated code and 14 others	C0043194	Wiskott-Aldrich Syndrome			
2733	1316718	1	A 24 year old male with a history of eczema, recurrent mild infections, and thrombocytopenia consistent with the Wiskott-Aldrich syndrome (WAS) presented with a mediastinal mass, generalized lymphadenopathy, splenomegaly, and severe thrombocytopenia.	38	43	6	eczema	textual	C0013595	Eczema			
2733	1316718	1	A 24 year old male with a history of eczema, recurrent mild infections, and thrombocytopenia consistent with the Wiskott-Aldrich syndrome (WAS) presented with a mediastinal mass, generalized lymphadenopathy, splenomegaly, and severe thrombocytopenia.	46	70	25	recurrent mild infections	intuitive - a query of recurrent infections, yields annotated code	C0239998	Recurrent infection			
2733	1316718	1	A 24 year old male with a history of eczema, recurrent mild infections, and thrombocytopenia consistent with the Wiskott-Aldrich syndrome (WAS) presented with a mediastinal mass, generalized lymphadenopathy, splenomegaly, and severe thrombocytopenia.	77	92	16	thrombocytopenia	textual	C0040034	Thrombocytopenia			
2733	1316718	1	A 24 year old male with a history of eczema, recurrent mild infections, and thrombocytopenia consistent with the Wiskott-Aldrich syndrome (WAS) presented with a mediastinal mass, generalized lymphadenopathy, splenomegaly, and severe thrombocytopenia.	114	137	24	Wiskott-Aldrich syndrome	textual	C0043194	Wiskott-Aldrich Syndrome			
2733	1316718	1	A 24 year old male with a history of eczema, recurrent mild infections, and thrombocytopenia consistent with the Wiskott-Aldrich syndrome (WAS) presented with a mediastinal mass, generalized lymphadenopathy, splenomegaly, and severe thrombocytopenia.	162	177	16	mediastinal mass	textual	C0240318	Mediastinal mass			
2733	1316718	1	A 24 year old male with a history of eczema, recurrent mild infections, and thrombocytopenia consistent with the Wiskott-Aldrich syndrome (WAS) presented with a mediastinal mass, generalized lymphadenopathy, splenomegaly, and severe thrombocytopenia.	192	206	15	lymphadenopathy	textual - yields annotated code and a possible alternative	C0497156	Enlargement of lymph nodes	Lymphatic Diseases [C0024228]		
2733	1316718	1	A 24 year old male with a history of eczema, recurrent mild infections, and thrombocytopenia consistent with the Wiskott-Aldrich syndrome (WAS) presented with a mediastinal mass, generalized lymphadenopathy, splenomegaly, and severe thrombocytopenia.	209	220	12	splenomegaly	textual	C0038002	Splenomegaly			
2733	1316718	1	A 24 year old male with a history of eczema, recurrent mild infections, and thrombocytopenia consistent with the Wiskott-Aldrich syndrome (WAS) presented with a mediastinal mass, generalized lymphadenopathy, splenomegaly, and severe thrombocytopenia.	234	249	16	thrombocytopenia	textual	C0040034	Thrombocytopenia			
2734	1316718	2	Studies of immune function including immunoglobulin levels and T-cell subsets were normal.					No annotation					
2735	1316718	3	Furthermore, his T lymphocytes proliferated normally in response to phytohemagglutinin, concanavalin A, and the combination of neuraminidase/galactose oxidase.					No annotation					
2736	1316718	4	However, their proliferative responses to anti-CD43 antibody and periodate were diminished, consistent with the clinical diagnosis of WAS.	135	137	3	WAS	intuitive -WAS was defined as Wiskott-Aldrich syndrom, a query of WAS yields annotated code and 14 others	C0043194	Wiskott-Aldrich Syndrome			
2737	1316718	5	An initial inguinal lymph node biopsy surprisingly revealed Kaposi sarcoma.	61	74	14	Kaposi sarcoma	textual	C0036220	Kaposi Sarcoma			
2738	1316718	6	However, following splenectomy to increase the platelet count, biopsy of the mediastinal mass revealed T-cell large cell lymphoma.	78	93	16	mediastinal mass	textual	C0240318	Mediastinal mass			
2738	1316718	6	However, following splenectomy to increase the platelet count, biopsy of the mediastinal mass revealed T-cell large cell lymphoma.	122	129	8	lymphoma	textual	C0024299	Lymphoma			
2739	1316718	7	Studies of biopsied tissue for the presence of Epstein-Barr virus and cytomegalovirus were negative, as were studies of blood, including the polymerase chain reaction, for the presence of the human immunodeficiency virus HIV.	222	224	3	HIV	textual - yields annotated code, also yields alternative codes	C0019682	HIV	Acquired Immunodeficiency Syndrome [C0001175] HIV Infections [C0019693]	***	
2739	1316718	7	Studies of biopsied tissue for the presence of Epstein-Barr virus and cytomegalovirus were negative, as were studies of blood, including the polymerase chain reaction, for the presence of the human immunodeficiency virus HIV.	48	65	18	Epstein-Barr virus	textual	C0014644	Herpesvirus 4, Human		***	
2739	1316718	7	Studies of biopsied tissue for the presence of Epstein-Barr virus and cytomegalovirus were negative, as were studies of blood, including the polymerase chain reaction, for the presence of the human immunodeficiency virus HIV.	71	85	15	cytomegalovirus	textual	C0010825	Cytomegalovirus		***	
2739	1316718	7	Studies of biopsied tissue for the presence of Epstein-Barr virus and cytomegalovirus were negative, as were studies of blood, including the polymerase chain reaction, for the presence of the human immunodeficiency virus HIV.	193	220	28	human immunodeficiency virus	textual - yields annotated code, also yields alternative codes	C0019682	HIV	Acquired Immunodeficiency Syndrome [C0001175] HIV Infections [C0019693]	***	
2740	1316718	8	This is the first report of Kaposi sarcoma arising in a patient with a congenital immunodeficiency syndrome.	29	42	14	Kaposi sarcoma	textual	C0036220	Kaposi Sarcoma			
2740	1316718	8	This is the first report of Kaposi sarcoma arising in a patient with a congenital immunodeficiency syndrome.	83	107	25	immunodeficiency syndrome	textual	C0021051	Immunologic Deficiency Syndromes			
2741	1316718	9	Although Kaposi sarcoma can arise in the face of the severe immunosuppression that follows allograft transplantation and in patients infected with HIV, we postulate that longevity in the face of mild immunosuppression was the major factor in the development of Kaposi sarcoma in this patient..	148	150	3	HIV	textual - yields annotated code, also yields alternative codes	C0019682	HIV	Acquired Immunodeficiency Syndrome [C0001175] HIV Infections [C0019693]	***	
2741	1316718	9	Although Kaposi sarcoma can arise in the face of the severe immunosuppression that follows allograft transplantation and in patients infected with HIV, we postulate that longevity in the face of mild immunosuppression was the major factor in the development of Kaposi sarcoma in this patient..	10	23	14	Kaposi sarcoma	textual	C0036220	Kaposi Sarcoma			
2741	1316718	9	Although Kaposi sarcoma can arise in the face of the severe immunosuppression that follows allograft transplantation and in patients infected with HIV, we postulate that longevity in the face of mild immunosuppression was the major factor in the development of Kaposi sarcoma in this patient..	262	275	14	Kaposi sarcoma	textual	C0036220	Kaposi Sarcoma			
2742	1317264	1	Although gastric cancer is the most common cancer in the world, genetic changes during its carcinogenesis are not well understood.	10	23	14	gastric cancer	textual	C0024623, C0699791	Malignant neoplasm of stomach, Stomach Carcinoma			
2743	1317264	2	Since some gastric cancers are considered to originate from the intestinal metaplasia, it is likely that the adenomatous polyposis coli (APC) gene, the mutation of which causes adenomatous polyps in the colon, is associated with carcinogenesis of gastric cancer.	12	26	15	gastric cancers	textual	C0024623, C0699791	Malignant neoplasm of stomach, Stomach Carcinoma			
2743	1317264	2	Since some gastric cancers are considered to originate from the intestinal metaplasia, it is likely that the adenomatous polyposis coli (APC) gene, the mutation of which causes adenomatous polyps in the colon, is associated with carcinogenesis of gastric cancer.	65	85	21	intestinal metaplasia	textual	C0334037	Intestinal metaplasia		***	
2743	1317264	2	Since some gastric cancers are considered to originate from the intestinal metaplasia, it is likely that the adenomatous polyposis coli (APC) gene, the mutation of which causes adenomatous polyps in the colon, is associated with carcinogenesis of gastric cancer.	110	135	26	adenomatous polyposis coli	textual - yields annotated code and 1 other	C0032580	Adenomatous Polyposis Coli			
2743	1317264	2	Since some gastric cancers are considered to originate from the intestinal metaplasia, it is likely that the adenomatous polyposis coli (APC) gene, the mutation of which causes adenomatous polyps in the colon, is associated with carcinogenesis of gastric cancer.	178	208	31	adenomatous polyps in the colon	textual	C0850572	Adenomatous polyp of colon			
2743	1317264	2	Since some gastric cancers are considered to originate from the intestinal metaplasia, it is likely that the adenomatous polyposis coli (APC) gene, the mutation of which causes adenomatous polyps in the colon, is associated with carcinogenesis of gastric cancer.	248	261	14	gastric cancer	textual	C0024623, C0699791	Malignant neoplasm of stomach, Stomach Carcinoma			
2744	1317264	3	Based on this idea, DNAs isolated from gastric cancers were examined by means of a RNase protection analysis coupled with polymerase chain reaction followed by sequencing of the polymerase chain reaction products.	40	54	15	gastric cancers	textual	C0024623, C0699791	Malignant neoplasm of stomach, Stomach Carcinoma			
2745	1317264	4	By screening nearly one-half of the coding region of the APC gene in 44 tumors, somatic mutations were detected in three tumors: a missense mutation, a nonsense mutation, and a 5-base pair deletion resulting in a frame shift which causes truncation of the gene product.	73	78	6	tumors	textual	C0027651	Neoplasms			
2745	1317264	4	By screening nearly one-half of the coding region of the APC gene in 44 tumors, somatic mutations were detected in three tumors: a missense mutation, a nonsense mutation, and a 5-base pair deletion resulting in a frame shift which causes truncation of the gene product.	122	127	6	tumors	textual	C0027651	Neoplasms			
2746	1317264	5	These results suggest that the mutation of the APC gene also plays an important role during the carcinogenesis of at least some gastric cancers..	129	143	15	gastric cancers	textual	C0024623, C0699791	Malignant neoplasm of stomach, Stomach Carcinoma			
2747	1319059	1	The known Duchenne muscular dystrophy (DMD) gene products, the muscle- and brain-type dystrophin isoforms, are 427-kDa proteins translated from 14-kilobase (kb) mRNAs.	11	37	27	Duchenne muscular dystrophy	textual	C0013264	Muscular Dystrophy, Duchenne		***	
2750	1319059	4	It contains the C-terminal and the cysteine-rich domains of dystrophin, seven additional amino acids at the N terminus, and some modifications formed by alternative splicing in the C-terminal domain.					No annotation					
2751	1319059	5	It lacks the entire large domain of spectrin-like repeats and the actin-binding N-terminal domain of dystrophin.					No annotation					
2753	1319838	1	Recently we have isolated the adenomatous polyposis coli (APC) gene which causes familial adenomatous polyposis (FAP), and its germ-line mutations in a substantial number of FAP patients have been identified.	114	116	3	FAP	textual - yields 6 other code	C0032580	Adenomatous Polyposis Coli			
2753	1319838	1	Recently we have isolated the adenomatous polyposis coli (APC) gene which causes familial adenomatous polyposis (FAP), and its germ-line mutations in a substantial number of FAP patients have been identified.	175	177	3	FAP	textual - yields 6 other code	C0032580	Adenomatous Polyposis Coli			
2753	1319838	1	Recently we have isolated the adenomatous polyposis coli (APC) gene which causes familial adenomatous polyposis (FAP), and its germ-line mutations in a substantial number of FAP patients have been identified.	31	56	26	adenomatous polyposis coli	textual - yields 1 other code	C0032580	Adenomatous Polyposis Coli			
2753	1319838	1	Recently we have isolated the adenomatous polyposis coli (APC) gene which causes familial adenomatous polyposis (FAP), and its germ-line mutations in a substantial number of FAP patients have been identified.	82	111	30	familial adenomatous polyposis	textual - yields 1 other code	C0032580	Adenomatous Polyposis Coli			
2754	1319838	2	On the basis of this information, we compared the location of germ-line mutations in the APC gene in 22 unrelated patients (12 of whom have been reported previously) with the number of colorectal polyps developed in FAP patients; 17 were sparse types and five were profuse types.	217	219	3	FAP	textual - yields 6 other code	C0032580	Adenomatous Polyposis Coli			
2754	1319838	2	On the basis of this information, we compared the location of germ-line mutations in the APC gene in 22 unrelated patients (12 of whom have been reported previously) with the number of colorectal polyps developed in FAP patients; 17 were sparse types and five were profuse types.	186	202	17	colorectal polyps	textual	C0949059	Polyp of large intestine			
2755	1319838	3	All but one of the mutations were considered to cause truncation of the gene product by frame-shift due to deletion (14 cases) or nonsense mutation seven cases.					No annotation					
2756	1319838	4	The location of the germ-line mutations seems to correlate with the two clinical types; germ-line mutations in five FAP patients with profuse polyps were observed between codon 1250 and codon 1464, whereas mutations in 17 FAP patients with fewer polyps were observed in the other regions of the APC gene.	117	119	3	FAP	textual - yields 6 other code	C0032580	Adenomatous Polyposis Coli			
2756	1319838	4	The location of the germ-line mutations seems to correlate with the two clinical types; germ-line mutations in five FAP patients with profuse polyps were observed between codon 1250 and codon 1464, whereas mutations in 17 FAP patients with fewer polyps were observed in the other regions of the APC gene.	223	225	3	FAP	textual - yields 6 other code	C0032580	Adenomatous Polyposis Coli			
2756	1319838	4	The location of the germ-line mutations seems to correlate with the two clinical types; germ-line mutations in five FAP patients with profuse polyps were observed between codon 1250 and codon 1464, whereas mutations in 17 FAP patients with fewer polyps were observed in the other regions of the APC gene.	143	148	6	polyps	intuitive - in abstract is in reference to colorectal polyps	C0949059	Polyp of large intestine			
2756	1319838	4	The location of the germ-line mutations seems to correlate with the two clinical types; germ-line mutations in five FAP patients with profuse polyps were observed between codon 1250 and codon 1464, whereas mutations in 17 FAP patients with fewer polyps were observed in the other regions of the APC gene.	247	252	6	polyps	intuitive - in abstract is in reference to colorectal polyps	C0949059	Polyp of large intestine			
2757	1319838	5	The result suggests that the number of colorectal polyps in FAP patients may be associated with a difference in the stability or biological function of the truncated APC protein..	61	63	3	FAP	textual - yields 6 other code	C0032580	Adenomatous Polyposis Coli			
2757	1319838	5	The result suggests that the number of colorectal polyps in FAP patients may be associated with a difference in the stability or biological function of the truncated APC protein..	40	56	17	colorectal polyps	textual	C0949059	Polyp of large intestine			
2758	1322637	10	We also have developed rapid, nonradioactive assays for the detection of each mutation, which should be helpful for carrier screening..					No annotation					
2759	1322637	2	It is well known that an elevated frequency of TSD mutations exists among Ashkenazi Jews.	48	50	3	TSD	intuitive - Abstract defines TSD as "Tay-Sachs Disease"	C0039373	Tay-Sachs Disease		***	
2760	1322637	3	More recently it has become apparent that elevated carrier frequencies for TSD also occur in several other ethnic groups, including Moroccan Jews, a subgroup of Sephardic Jews.	76	78	3	TSD	intuitive - Abstract defines TSD as "Tay-Sachs Disease"	C0039373	Tay-Sachs Disease			
2761	1322637	4	Elsewhere we reported an in-frame deletion of one of the two adjacent phenylalanine codons at position 304 or 305 (delta F304/305) in one HEXA allele of a Moroccan Jewish TSD patient and in three obligate carriers from six unrelated Moroccan Jewish families.	172	174	3	TSD	intuitive - Abstract defines TSD as "Tay-Sachs Disease"	C0039373	Tay-Sachs Disease			
2763	1322637	6	One of the mutations is a novel C-to-G transversion, resulting in a replacement of Tyr180 by a stop codon.					No annotation					
2764	1322637	7	The other mutation is a G-to-A transition resulting in an Arg170-to-Gln substitution.					No annotation					
2765	1322637	8	This mutation is at a CpG site in a Japanese infant with Tay-Sachs disease and was described elsewhere.	58	74	17	Tay-Sachs disease	textual	C0039373	Tay-Sachs Disease			
2766	1322637	9	Analysis of nine obligate carriers from seven unrelated families showed that four harbor the delta F304/305 mutation, two the Arg170----Gln mutation, and one the Tyr180----Stop mutation.					No annotation					
2767	1323345	1	We have developed a rapid and simple method to diagnose the molecular defects of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Chinese in Taiwan.	82	132	51	glucose-6-phosphate dehydrogenase (G6PD) deficiency	textual	C0017920	Glycogen Storage Disease Type I			
2768	1323345	2	This method involves the selective amplification of a DNA fragment from human G6PD gene with specific oligonucleotide primers followed by digestion with restriction enzymes that recognize artificially created or naturally occurring restriction sites.					No annotation					
2769	1323345	4	The results show that 50% (47 of 94) were G to T mutation at nucleotide (nt) 1376, 21.3% (20 of 94) were G to A mutation at nt 1388, 7.4% (7 of 94) were A to G mutation at nt 493, 7.4% (7 of 94) were A to G mutation at nt 95, 4.2% (4 of 94) were C to T mutation at nt 1024, 1.1% (1 of 94) was G to T mutation at nt 392, and 1.1% (1 of 94) was G to A mutation at nt 487.					No annotation					
2770	1323345	6	Aside from showing that G to T change at nt 1376 is the most common mutation, our research indicates that nt 493 mutation is a frequent mutation among Chinese in Taiwan.					No annotation					
2771	1323345	7	We compared G6PD activity among different mutations, without discovering significant differences between them..					No annotation					
2772	1324223	1	Familial adenomatous polyposis (FAP) is a dominantly inherited condition predisposing to colorectal cancer.	33	35	3	FAP	textual - yields 6 other code	C0032580	Adenomatous Polyposis Coli			
2772	1324223	1	Familial adenomatous polyposis (FAP) is a dominantly inherited condition predisposing to colorectal cancer.	1	30	30	Familial adenomatous polyposis	textual - yields annotated code	C0032580	Adenomatous Polyposis Coli			
2772	1324223	1	Familial adenomatous polyposis (FAP) is a dominantly inherited condition predisposing to colorectal cancer.	90	106	17	colorectal cancer	textual - yields both annotated codes	C0009402, C1527249	Carcinoma of the Large Intestine, Colorectal Cancer			
2773	1324223	10	Such intragenic polymorphisms offer a practical approach to a more rapid procedure for presymptomatic diagnosis of FAP by linkage analysis in informative families..	116	118	3	FAP	textual - yields 6 other code	C0032580	Adenomatous Polyposis Coli			
2774	1324223	2	The recent isolation of the responsible gene (adenomatous polyposis coli or APC) has facilitated the search for germ line mutations in affected individuals.	47	72	26	adenomatous polyposis coli	textual	C0032580	Adenomatous Polyposis Coli		***	
2775	1324223	3	Previous authors have used the RNase protection assay and the single-strand conformation polymorphisms procedure to screen for mutations.					No annotation					
2776	1324223	4	In this study we used denaturing gradient gel electrophoresis DGGE.					No annotation					
2777	1324223	5	DGGE analysis of 10 APC exons (4, 5, 7, 8, 9, 10, 12, 13, 14, and part of 15) in 33 unrelated Dutch FAP patients has led to the identification of eight novel germ line mutations resulting in stop codons or frameshifts.	101	103	3	FAP	textual - yields 6 other code	C0032580	Adenomatous Polyposis Coli			
2778	1324223	6	The results reported here indicate that (1) familial adenomatous polyposis is caused by an extremely heterogeneous spectrum of point mutations; (2) all the mutations found in this study are chain terminating; and (3) DGGE represents a rapid and sensitive technique for the detection of mutations in the unusually large APC gene.	45	74	30	familial adenomatous polyposis	textual - yields annotated code	C0032580	Adenomatous Polyposis Coli			
2779	1324223	7	An extension of the DGGE analysis to the entire coding region in a sufficient number of clinically well-characterized, unrelated patients will facilitate the establishment of genotype-phenotype correlations.					No annotation					
2780	1324223	8	On the other hand, the occurrence of an extremely heterogeneous spectrum of mutations spread throughout the entire length of the large APC gene among the FAP patients indicates that this approach may not be useful as a rapid presymptomatic diagnostic procedure in a routine laboratory.	155	157	3	FAP	textual - yields 6 other code	C0032580	Adenomatous Polyposis Coli			
2781	1324223	9	Nevertheless, the above DGGE approach has incidentally led to the identification of a common polymorphism in exon 13.					No annotation					
2782	1325652	1	Two yeast artificial chromosomes (YACs) spanning a total distance of 1.1 megabase pairs of DNA around the MCC (for mutated in colorectal carcinoma) and APC (for adenomatous polyposis coli) genes at 5q21 have been isolated and characterized.	127	146	20	colorectal carcinoma	textual	C0009402	Carcinoma of the Large Intestine			
2782	1325652	1	Two yeast artificial chromosomes (YACs) spanning a total distance of 1.1 megabase pairs of DNA around the MCC (for mutated in colorectal carcinoma) and APC (for adenomatous polyposis coli) genes at 5q21 have been isolated and characterized.	162	187	26	adenomatous polyposis coli	textual	C0032580	Adenomatous Polyposis Coli		***	
2783	1325652	2	Starting from the MCC gene, a strategy was undertaken to identify constitutional submicroscopic deletions in familial adenomatous polyposis patients that might considerably narrow down the position of the APC gene.	110	139	30	familial adenomatous polyposis	textual - yields annotated code	C0032580	Adenomatous Polyposis Coli			
2784	1325652	3	To this end, YACs identified by the MCC gene were screened across a chromosome 5-specific cosmid library to provide a source of DNA probes for genomic scanning.					No annotation					
2785	1325652	4	The cosmids isolated from these experiments were used to screen a panel of somatic cell hybrids containing chromosome 5 segregated from patients suspected to carry putative interstitial deletions.					No annotation					
2786	1325652	5	This screening approach led to the confirmation of a small heterozygous deletion in a polyposis patient that overlaps one of the two isolated YACs.	87	95	9	polyposis	intuitive - in the abstract it is in reference to familial adenomatous polyposis	C0032580	Adenomatous Polyposis Coli			
2787	1325652	6	This YAC has been shown to contain the entire APC gene, in addition to a significant portion of DNA flanking the 5' end of the gene, and should therefore prove a valuable resource for functional studies by transfer to colorectal tumor-derived cell lines..	219	234	16	colorectal tumor	textual	C0009404	Colorectal Neoplasms		***	
2788	1327525	2	We report three new cases, two carrying a previously described WT1 exon 9 mutation and one with a novel WT1 exon 8 mutation.					No annotation					
2789	1327525	3	However, unlike patients in previous reports, one of our three patients inherited the affected allele from his phenotypically unaffected father.					No annotation					
2790	1327525	5	Consequently, familial studies in patients affected by this syndrome are recommended..					No annotation					
2791	1334370	1	Fluorescence in situ hybridization (FISH) with biotin-labeled probes mapping to 11p13 has been used for the molecular analysis of deletions of the WAGR (Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation) locus.	154	164	11	Wilms tumor	textual	C0027708	Nephroblastoma			
2791	1334370	1	Fluorescence in situ hybridization (FISH) with biotin-labeled probes mapping to 11p13 has been used for the molecular analysis of deletions of the WAGR (Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation) locus.	167	174	8	aniridia	textual	C0003076	Aniridia			
2791	1334370	1	Fluorescence in situ hybridization (FISH) with biotin-labeled probes mapping to 11p13 has been used for the molecular analysis of deletions of the WAGR (Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation) locus.	177	203	27	genitourinary abnormalities	textual	C0042063	Urogenital Abnormalities			
2791	1334370	1	Fluorescence in situ hybridization (FISH) with biotin-labeled probes mapping to 11p13 has been used for the molecular analysis of deletions of the WAGR (Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation) locus.	210	227	18	mental retardation	textual	C0025362	Mental Retardation			
2792	1334370	2	We have detected a submicroscopic 11p13 deletion in a child with inherited aniridia who subsequently presented with Wilms tumor in a horseshoe kidney, only revealed at surgery.	76	83	8	aniridia	textual	C0003076	Aniridia			
2792	1334370	2	We have detected a submicroscopic 11p13 deletion in a child with inherited aniridia who subsequently presented with Wilms tumor in a horseshoe kidney, only revealed at surgery.	117	127	11	Wilms tumor	textual	C0027708	Nephroblastoma			
2792	1334370	2	We have detected a submicroscopic 11p13 deletion in a child with inherited aniridia who subsequently presented with Wilms tumor in a horseshoe kidney, only revealed at surgery.	134	149	16	horseshoe kidney	textual	C0221353	Horseshoe kidney			
2793	1334370	3	The mother, who has aniridia, was also found to carry a deletion including both the aniridia candidate gene (AN2) and the Wilms tumor predisposition gene WT1.	21	28	8	aniridia	textual	C0003076	Aniridia			
2793	1334370	3	The mother, who has aniridia, was also found to carry a deletion including both the aniridia candidate gene (AN2) and the Wilms tumor predisposition gene WT1.	85	92	8	aniridia	textual	C0003076	Aniridia			
2793	1334370	3	The mother, who has aniridia, was also found to carry a deletion including both the aniridia candidate gene (AN2) and the Wilms tumor predisposition gene WT1.	123	133	11	Wilms tumor	textual	C0027708	Nephroblastoma			
2794	1334370	4	This is therefore a rare case of an inherited WAGR deletion.					No annotation					
2795	1334370	5	Wilms tumor has so far only been associated with sporadic de novo aniridia cases.	1	11	11	Wilms tumor	textual	C0027708	Nephroblastoma			
2795	1334370	5	Wilms tumor has so far only been associated with sporadic de novo aniridia cases.	67	74	8	aniridia	textual	C0003076	Aniridia			
2796	1334370	6	We have shown that a cosmid probe for a candidate aniridia gene, homologous to the mouse Pax-6 gene, is deleted in cell lines from aniridia patients with previously characterized deletions at 11p13, while another cosmid marker mapping between two aniridia-associated translocation breakpoints (and hence a second candidate marker) is present on both chromosomes.	51	58	8	aniridia	textual	C0003076	Aniridia			
2796	1334370	6	We have shown that a cosmid probe for a candidate aniridia gene, homologous to the mouse Pax-6 gene, is deleted in cell lines from aniridia patients with previously characterized deletions at 11p13, while another cosmid marker mapping between two aniridia-associated translocation breakpoints (and hence a second candidate marker) is present on both chromosomes.	132	139	8	aniridia	textual	C0003076	Aniridia			
2796	1334370	6	We have shown that a cosmid probe for a candidate aniridia gene, homologous to the mouse Pax-6 gene, is deleted in cell lines from aniridia patients with previously characterized deletions at 11p13, while another cosmid marker mapping between two aniridia-associated translocation breakpoints (and hence a second candidate marker) is present on both chromosomes.	248	255	8	aniridia	textual	C0003076	Aniridia			
2797	1334370	7	These results support the Pax-6 homologue as a strong candidate for the AN2 gene.					No annotation					
2798	1334370	8	FISH with cosmid probes has proved to be a fast and reliable technique for the molecular analysis of deletions.					No annotation					
2799	1334370	9	It can be used with limited amounts of material and has strong potential for clinical applications..					No annotation					
2800	133535	2	We present here a pedigree of a 31-year-old C2-deficient individual with clinical manifestations of Hodgkins disease.	45	56	12	C2-deficient	textual	C0398756	Complement 2 deficiency			
2800	133535	2	We present here a pedigree of a 31-year-old C2-deficient individual with clinical manifestations of Hodgkins disease.	101	116	16	Hodgkins disease	textual	C0019829	Hodgkins Disease			
2801	133535	3	The following markers were tested: C2 levels, factor B polymorphism, blood groups, and enzyme typing.					No annotation					
2802	133535	6	They share, however, the SD2 antigen W18 and the LD type 7a..					No annotation					
2803	1338764	1	We report here the result of a screening for germ-line mutations in the adenomatous polyposis coli (APC) gene in 61 new familial adenomatous polyposis (FAP) patients as well as a summary of the results of 150 patients.	153	155	3	FAP	textual - yields annotated code and 6 others	C0032580	Adenomatous Polyposis Coli			
2803	1338764	1	We report here the result of a screening for germ-line mutations in the adenomatous polyposis coli (APC) gene in 61 new familial adenomatous polyposis (FAP) patients as well as a summary of the results of 150 patients.	73	98	26	adenomatous polyposis coli	textual	C0032580	Adenomatous Polyposis Coli		***	
2803	1338764	1	We report here the result of a screening for germ-line mutations in the adenomatous polyposis coli (APC) gene in 61 new familial adenomatous polyposis (FAP) patients as well as a summary of the results of 150 patients.	121	150	30	familial adenomatous polyposis	textual - yields annotated code	C0032580	Adenomatous Polyposis Coli			
2804	1338764	2	Examination of the entire coding region of the APC gene, based on a ribonuclease protection assay coupled with the polymerase chain reaction (PCR), disclosed mutations that were considered to cause significant defects in the APC product in 97 of 150 unrelated FAP patients.	261	263	3	FAP	textual - yields annotated code and 6 others	C0032580	Adenomatous Polyposis Coli			
2805	1338764	3	Our findings revealed the following characteristics of the germ-line mutations of APC: 1 the great majority of the mutations were found to truncate the APC product; 2 almost all of the mutations were located within the first half of the coding region; 3 no correlation was observed between the locations of germ-line mutations and extracolonic manifestations in FAP patients; 4 more than 80% of base substitutions in the APC gene were from cytosine to other nucleotides, nearly one-third of which occurred at the GpG site.	363	365	3	FAP	textual - yields annotated code and 6 others	C0032580	Adenomatous Polyposis Coli			
2806	1338764	4	Our results provide information helpful to an understanding of the APC gene and will also contribute to presymptomatic diagnosis of members in FAP families..	144	146	3	FAP	textual - yields annotated code and 6 others	C0032580	Adenomatous Polyposis Coli			
2807	1338904	1	We examined somatic mutations of the adenomatous polyposis coli (APC) gene in 63 colorectal tumors (16 adenomas and 47 carcinomas) developed in familial adenomatous polyposis (FAP) and non-FAP patients.	177	179	3	FAP	textual - does not yield annotated code	C0032580	Adenomatous Polyposis Coli			
2807	1338904	1	We examined somatic mutations of the adenomatous polyposis coli (APC) gene in 63 colorectal tumors (16 adenomas and 47 carcinomas) developed in familial adenomatous polyposis (FAP) and non-FAP patients.	190	192	3	FAP	textual - does not yield annotated code	C0032580	Adenomatous Polyposis Coli			
2807	1338904	1	We examined somatic mutations of the adenomatous polyposis coli (APC) gene in 63 colorectal tumors (16 adenomas and 47 carcinomas) developed in familial adenomatous polyposis (FAP) and non-FAP patients.	38	63	26	adenomatous polyposis coli	textual	C0032580	Adenomatous Polyposis Coli		***	
2807	1338904	1	We examined somatic mutations of the adenomatous polyposis coli (APC) gene in 63 colorectal tumors (16 adenomas and 47 carcinomas) developed in familial adenomatous polyposis (FAP) and non-FAP patients.	82	98	17	colorectal tumors	textual	C0009404	Colorectal Neoplasms			
2807	1338904	1	We examined somatic mutations of the adenomatous polyposis coli (APC) gene in 63 colorectal tumors (16 adenomas and 47 carcinomas) developed in familial adenomatous polyposis (FAP) and non-FAP patients.	104	111	8	adenomas	intuitive - context implies this	C1302401	Adenoma of large intestine			
2807	1338904	1	We examined somatic mutations of the adenomatous polyposis coli (APC) gene in 63 colorectal tumors (16 adenomas and 47 carcinomas) developed in familial adenomatous polyposis (FAP) and non-FAP patients.	120	129	10	carcinomas	intuitive - context implies this	C0009402	Carcinoma of the Large Intestine			
2807	1338904	1	We examined somatic mutations of the adenomatous polyposis coli (APC) gene in 63 colorectal tumors (16 adenomas and 47 carcinomas) developed in familial adenomatous polyposis (FAP) and non-FAP patients.	145	174	30	familial adenomatous polyposis	textual - yields annotated code	C0032580	Adenomatous Polyposis Coli			
2808	1338904	2	In addition to loss of heterozygosity (LOH) at the APC locus in 30 tumors, 43 other somatic mutations were detected.	68	73	6	tumors	intuitive - abstract context implies this	C0009404	Colorectal Neoplasms			
2809	1338904	3	Twenty-one of them were point mutations; 16 nonsense and two missense mutations, and three occurred in introns at the splicing site.					No annotation					
2810	1338904	4	Twenty-two tumors had frameshift mutations due to deletion or insertion; nineteen of them were deletions of one to 31 bp and three were a 1-bp insertion.	12	17	6	tumors	intuitive - abstract context implies this	C0009404	Colorectal Neoplasms			
2811	1338904	5	One tumor had a 1-bp deletion in an intron near the splicing site.					No annotation					
2814	1338904	8	Combining these data and the results of LOH, more than 80% of tumors (14 adenomas and 39 carcinomas) had at least one mutation in the APC gene, of which more than 60% (9 adenomas and 23 carcinomas) had two mutations.	63	68	6	tumors	intuitive - abstract context implies this	C0009404	Colorectal Neoplasms			
2814	1338904	8	Combining these data and the results of LOH, more than 80% of tumors (14 adenomas and 39 carcinomas) had at least one mutation in the APC gene, of which more than 60% (9 adenomas and 23 carcinomas) had two mutations.	74	81	8	adenomas	intuitive - abstract context implies this	C1302401	Adenoma of large intestine			
2814	1338904	8	Combining these data and the results of LOH, more than 80% of tumors (14 adenomas and 39 carcinomas) had at least one mutation in the APC gene, of which more than 60% (9 adenomas and 23 carcinomas) had two mutations.	90	99	10	carcinomas	intuitive - abstract context implies this	C0009402	Carcinoma of the Large Intestine			
2814	1338904	8	Combining these data and the results of LOH, more than 80% of tumors (14 adenomas and 39 carcinomas) had at least one mutation in the APC gene, of which more than 60% (9 adenomas and 23 carcinomas) had two mutations.	171	178	8	adenomas	intuitive - abstract context implies this	C1302401	Adenoma of large intestine			
2814	1338904	8	Combining these data and the results of LOH, more than 80% of tumors (14 adenomas and 39 carcinomas) had at least one mutation in the APC gene, of which more than 60% (9 adenomas and 23 carcinomas) had two mutations.	187	196	10	carcinomas	intuitive - abstract context implies this	C0009402	Carcinoma of the Large Intestine			
2815	1338904	9	These results strongly suggest that somatic mutations of the APC gene are associated with development of a great majority of colorectal tumors..	126	142	17	colorectal tumors	textual	C0009404	Colorectal Neoplasms			
2816	1338906	1	The Denys-Drash syndrome is characterised by a typical nephropathy, genital abnormalities and also predisposes to the development of Wilms' tumor.	5	24	20	Denys-Drash syndrome	textual	C0950121	Denys-Drash Syndrome			
2816	1338906	1	The Denys-Drash syndrome is characterised by a typical nephropathy, genital abnormalities and also predisposes to the development of Wilms' tumor.	56	66	11	nephropathy	textual	C0022658	Kidney Diseases			
2816	1338906	1	The Denys-Drash syndrome is characterised by a typical nephropathy, genital abnormalities and also predisposes to the development of Wilms' tumor.	69	89	21	genital abnormalities	textual	C0744356	Genital abnormalities			
2816	1338906	1	The Denys-Drash syndrome is characterised by a typical nephropathy, genital abnormalities and also predisposes to the development of Wilms' tumor.	134	145	12	Wilms' tumor	textual	C0027708	Nephroblastoma			
2817	1338906	10	We were unable to find a mutation in one patient despite complete sequencing of the genomic sequence of the gene.					No annotation					
2818	1338906	11	The last patient carried a constitutional deletion of the 11p13 region and no additional mutation was found.					No annotation					
2819	1338906	12	There was no obvious correlation between the type of mutation and phenotypic expression.					No annotation					
2820	1338906	13	These results further demonstrate that the WT1 gene is important in both the development of the kidney and the genito-urinary system..					No annotation					
2821	1338906	2	These patients eventually go into end stage renal failure.	35	57	23	end stage renal failure	textual	C0022661	Kidney Failure, Chronic			
2822	1338906	3	A candidate Wilms' tumor gene, WT1, from the 11p13 chromosome region has recently been cloned.	13	24	12	Wilms' tumor	textual	C0027708	Nephroblastoma		***	
2823	1338906	4	We have analysed the DNA sequence in constitutional cells from eight patients and have shown heterozygous mutations in six of them.					No annotation					
2824	1338906	5	Four of the mutations were in exon 9, all resulting in missense mutations.					No annotation					
2825	1338906	6	Three were at nucleotide position 1180 resulting in an arg > trp amino acid change.					No annotation					
2826	1338906	7	The other was at position 1186 converting an asp > asn in the predicted resultant protein.					No annotation					
2827	1338906	8	One patient had a missense mutation in exon 8, converting an arg > his.					No annotation					
2828	1338906	9	A single base pair insertion at nucleotide position 821 in exon 6 resulted in the generation of a premature stop codon in the last patient.					No annotation					
2829	1345170	1	Linkage disequilibrium mapping in isolated populations provides a powerful tool for fine structure localization of disease genes.					No annotation					
2830	1345170	2	Here, Luria and Delbruck's classical methods for analysing bacterial cultures are adapted to the study of human isolated founder populations in order to estimate (i) the recombination fraction between a disease locus and a marker; (ii) the expected degree of allelic homogeneity in a population; and (iii) the mutation rate of marker loci.					No annotation					
2831	1345170	4	Predictions about allelic homogeneity in Finland and mutation rates in simple sequence repeats are confirmed by independent observations..					No annotation					
2832	1346773	1	The Wiskott-Aldrich syndrome (WAS) has previously been mapped to the proximal short arm of the X chromosome between the DXS14 and DXS7 loci.	31	33	3	WAS	textual - yields annotated code and 22 others	C0043194	Wiskott-Aldrich Syndrome			
2832	1346773	1	The Wiskott-Aldrich syndrome (WAS) has previously been mapped to the proximal short arm of the X chromosome between the DXS14 and DXS7 loci.	5	28	24	Wiskott-Aldrich syndrome	textual	C0043194	Wiskott-Aldrich Syndrome			
2833	1346773	2	In this study, further segregation analysis has been performed using a newly identified WAS family as well as an additional marker probe, HOATL1.	89	91	3	WAS	textual - yields annotated code and 22 others	C0043194	Wiskott-Aldrich Syndrome			
2834	1346773	3	The results indicate close linkage between the WAS and OATL1 loci (Z = 6.08 at theta = 0.00) and localize the TIMP, OATL1, DXS255, and WAS loci distal to DXS146 and the OATL1 and WAS loci proximal to TIMP.	48	50	3	WAS	textual - yields annotated code and 22 others	C0043194	Wiskott-Aldrich Syndrome		***	
2835	1346773	4	These linkage data narrow the boundaries within which the WAS locus maps to the chromosomal region bracketed by TIMP and DXS146 and support the loci order Xpter-DXS7-TIMP- OATL1, WAS, DXS255 -DXS146..	59	61	3	WAS	textual - yields annotated code and 22 others	C0043194	Wiskott-Aldrich Syndrome		***	
2836	1346924	1	Myotonic dystrophy (DM) is the most common form of adult muscular dystrophy, with a prevalence of 2-14 per 100,000 individuals.	21	22	2	DM	textual - yields annotated code and 8 others	C0027126	Myotonic Dystrophy			
2836	1346924	1	Myotonic dystrophy (DM) is the most common form of adult muscular dystrophy, with a prevalence of 2-14 per 100,000 individuals.	1	18	18	Myotonic dystrophy	textual	C0027126	Myotonic Dystrophy			
2836	1346924	1	Myotonic dystrophy (DM) is the most common form of adult muscular dystrophy, with a prevalence of 2-14 per 100,000 individuals.	58	75	18	muscular dystrophy	textual	C0026850	Muscular Dystrophy			
2837	1346924	2	The disease is characterized by progressive muscle weakness and sustained muscle contraction, often with a wide range of accompanying symptoms.	45	59	15	muscle weakness	textual	C0151786	Muscle Weakness			
2837	1346924	2	The disease is characterized by progressive muscle weakness and sustained muscle contraction, often with a wide range of accompanying symptoms.	65	92	28	sustained muscle contraction	intuitive	C0009917	Contracture			
2838	1346924	3	The age at onset and severity of the disease show extreme variation, both within and between families.					No annotation					
2839	1346924	4	Despite its clinical variability, this dominant condition segregates as a single locus at chromosome 19q13.3 in every population studied.					No annotation					
2841	1346924	6	We report the isolation of an expressed sequence from this region which detects a DNA fragment that is larger in affected individuals than in normal siblings or unaffected controls.					No annotation					
2842	1346924	7	The size of this fragment varies between affected siblings, and increases in size through generations in parallel with increasing severity of the disease.					No annotation					
2843	1346924	8	We postulate that this unstable DNA sequence is the molecular feature that underlies DM..	86	87	2	DM	textual - yields annotated code and 8 others	C0027126	Myotonic Dystrophy			
2844	1347968	1	Reciprocal chromosome translocations are common de novo rearrangements that occur randomly throughout the human genome.					No annotation					
2845	1347968	10	These findings suggest a possible mechanism which may have juxtaposed the three sites and mediated sequence-specific breakage and recombination between nonhomologous chromosomes in male meiosis..					No annotation					
2847	1347968	4	Restriction mapping and sequencing of clones that span both translocation breakpoints as well as the corresponding normal regions indicate the loss of approximately 5 kb in the formation of the derivative X chromosome, with 4-6 bp deleted from chromosome 4.					No annotation					
2848	1347968	6	Most likely, deletion and translation arose simultaneously from a complex rearrangement event that involves three chromosomal breakpoints.					No annotation					
2849	1347968	7	Short regions of sequence homology were present at the three sites.					No annotation					
2850	1347968	8	A 5-bp sequence, GGAAT, found exactly at the translocation breakpoints on both normal chromosomes X and 4, has been preserved only on the der(4) chromosome.					No annotation					
2851	1347968	9	It is likely that the X-derived sequence GGAATCA has been lost in the formation of the der(X) chromosome, as it matches an inverted GAATCA sequence present on the opposite strand exactly at the other end of the deleted 5-kb fragment.					No annotation					
2852	1349199	1	DiGeorge syndrome (DGS), a developmental field defect of the third and fourth pharyngeal pouches, is characterized by aplasia or hypoplasia of the thymus and parathyroid glands and by conotruncal cardiac malformations.	20	22	3	DGS	textual - yields annotated code and 1 other	C0012236	DiGeorge Syndrome			
2852	1349199	1	DiGeorge syndrome (DGS), a developmental field defect of the third and fourth pharyngeal pouches, is characterized by aplasia or hypoplasia of the thymus and parathyroid glands and by conotruncal cardiac malformations.	1	17	17	DiGeorge syndrome	textual	C0012236	DiGeorge Syndrome			
2852	1349199	1	DiGeorge syndrome (DGS), a developmental field defect of the third and fourth pharyngeal pouches, is characterized by aplasia or hypoplasia of the thymus and parathyroid glands and by conotruncal cardiac malformations.	48	96	49	defect of the third and fourth pharyngeal pouches	Could Not find suitable UMLS code					
2852	1349199	1	DiGeorge syndrome (DGS), a developmental field defect of the third and fourth pharyngeal pouches, is characterized by aplasia or hypoplasia of the thymus and parathyroid glands and by conotruncal cardiac malformations.	119	169	51	aplasia or hypoplasia of the thymus and parathyroid	Could not find suitable UMLS code					
2852	1349199	1	DiGeorge syndrome (DGS), a developmental field defect of the third and fourth pharyngeal pouches, is characterized by aplasia or hypoplasia of the thymus and parathyroid glands and by conotruncal cardiac malformations.	119	153	35	aplasia or hypoplasia of the thymus	intuitive - list is present	C0685894	Congenital absence of thymus			
2852	1349199	1	DiGeorge syndrome (DGS), a developmental field defect of the third and fourth pharyngeal pouches, is characterized by aplasia or hypoplasia of the thymus and parathyroid glands and by conotruncal cardiac malformations.	130	153	24	hypoplasia of the thymus	intuitive - list is present	C0685891	Congenital hypoplasia of thymus			
2852	1349199	1	DiGeorge syndrome (DGS), a developmental field defect of the third and fourth pharyngeal pouches, is characterized by aplasia or hypoplasia of the thymus and parathyroid glands and by conotruncal cardiac malformations.	130	169	40	hypoplasia of the thymus and parathyroid	intuitive - list is present	C1389851	Parathyroid hypoplasia			
2852	1349199	1	DiGeorge syndrome (DGS), a developmental field defect of the third and fourth pharyngeal pouches, is characterized by aplasia or hypoplasia of the thymus and parathyroid glands and by conotruncal cardiac malformations.	197	217	21	cardiac malformations	textual	C0018798	Congenital Heart Defects			
2853	1349199	10	Parent-of-origin studies were performed in five families.					No annotation					
2854	1349199	11	Four probands failed to inherit a maternal allele, and one failed to inherit a paternal allele.					No annotation					
2855	1349199	12	On the basis of these families, and of six maternally and five paternally derived unbalanced-translocation DGS probands in the literature, parent of origin or imprinting does not appear to play an important role in the pathogenesis of DGS.	236	238	3	DGS	textual	C0012236	DiGeorge Syndrome			
2856	1349199	13	Deletion of the same three loci in all 14 DGS probands begins to delineate the region of chromosome 22 critical for DGS and confirms the hypothesis that submicroscopic deletions of 22q11 are etiologic in the vast majority of cases..					No annotation					
