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PubMed:10721669 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-75 Sentence denotes Novel mutations of the ATP7B gene in Japanese patients with Wilson disease.
TextSentencer_T2 76-264 Sentence denotes 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.
TextSentencer_T3 265-368 Sentence denotes In this study, we analyzed mutations of the responsible gene, ATP7B, in four Japanese patients with WD.
TextSentencer_T4 369-490 Sentence denotes By direct sequencing, we identified five mutations, of which two were novel, and 16 polymorphisms, of which 6 were novel.
TextSentencer_T5 491-598 Sentence denotes The mutations 2871delC and 2513delA shift the reading frame so that truncated abnormal protein is expected.
TextSentencer_T6 599-862 Sentence denotes 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.
TextSentencer_T7 863-976 Sentence denotes The mutations 2871delC and R778L have been previously reported in a relatively large number of Japanese patients.
TextSentencer_T8 977-1084 Sentence denotes In particular, R778L is known to be more prevalent in Asian countries than in other countries of the world.
TextSentencer_T9 1085-1194 Sentence denotes Our data are compatible with the hypothesis that the mutations tend to occur in a population-specific manner.
TextSentencer_T10 1195-1362 Sentence denotes 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.
T1 0-75 Sentence denotes Novel mutations of the ATP7B gene in Japanese patients with Wilson disease.
T2 76-264 Sentence denotes 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.
T3 265-368 Sentence denotes In this study, we analyzed mutations of the responsible gene, ATP7B, in four Japanese patients with WD.
T4 369-490 Sentence denotes By direct sequencing, we identified five mutations, of which two were novel, and 16 polymorphisms, of which 6 were novel.
T5 491-598 Sentence denotes The mutations 2871delC and 2513delA shift the reading frame so that truncated abnormal protein is expected.
T6 599-862 Sentence denotes 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.
T7 863-976 Sentence denotes The mutations 2871delC and R778L have been previously reported in a relatively large number of Japanese patients.
T8 977-1084 Sentence denotes In particular, R778L is known to be more prevalent in Asian countries than in other countries of the world.
T9 1085-1194 Sentence denotes Our data are compatible with the hypothesis that the mutations tend to occur in a population-specific manner.
T10 1195-1362 Sentence denotes 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.

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 102-121 HP_0000007 denotes autosomal recessive

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
10721669-0#23#28#gene540 23-28 gene540 denotes ATP7B
10721669-0#60#74#diseaseC0019202 60-74 diseaseC0019202 denotes Wilson disease
23#28#gene54060#74#diseaseC0019202 10721669-0#23#28#gene540 10721669-0#60#74#diseaseC0019202 associated_with ATP7B,Wilson disease

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 175-180 http://purl.obolibrary.org/obo/UBERON_0002107 denotes liver
PD-UBERON-AE-B_T2 182-187 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain
PD-UBERON-AE-B_T3 189-196 http://purl.obolibrary.org/obo/UBERON_0002113 denotes kidneys
PD-UBERON-AE-B_T4 257-263 http://purl.obolibrary.org/obo/UBERON_0000062 denotes organs
PD-UBERON-AE-B_T5 202-209 http://purl.obolibrary.org/obo/UBERON_0000964 denotes corneas

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 76-90 ORDO:905 denotes Wilson disease
TI1 60-74 ORDO:905 denotes Wilson disease

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 175-180 http://purl.obolibrary.org/obo/UBERON_0002107 denotes liver
PD-UBERON-AE-B_T2 182-187 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain
PD-UBERON-AE-B_T3 189-196 http://purl.obolibrary.org/obo/UBERON_0002113 denotes kidneys
PD-UBERON-AE-B_T4 202-209 http://purl.obolibrary.org/obo/UBERON_0000964 denotes corneas
PD-UBERON-AE-B_T5 257-263 http://purl.obolibrary.org/obo/UBERON_0000062 denotes organs

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 60-74 SpecificDisease:D006527 denotes Wilson disease
T2 76-90 SpecificDisease:D006527 denotes Wilson disease
T3 92-94 SpecificDisease:D006527 denotes WD
T4 102-130 DiseaseClass:D030342 denotes autosomal recessive disorder
T5 365-367 SpecificDisease:D006527 denotes WD
T6 1275-1277 SpecificDisease:D006527 denotes WD
T7 1338-1340 SpecificDisease:D006527 denotes WD

DisGeNET

Id Subject Object Predicate Lexical cue
T0 23-28 gene:540 denotes ATP7B
T1 60-74 disease:C0019202 denotes Wilson disease
R1 T0 T1 associated_with ATP7B,Wilson disease

NCBI-Disease-Train

Id Subject Object Predicate Lexical cue database_id
T2056 60-74 SpecificDisease denotes Wilson disease D006527
T2057 76-90 SpecificDisease denotes Wilson disease D006527
T2058 92-94 SpecificDisease denotes WD D006527
T2059 102-130 DiseaseClass denotes autosomal recessive disorder D030342
T2060 365-367 SpecificDisease denotes WD D006527
T2061 1275-1277 SpecificDisease denotes WD D006527
T2062 1338-1340 SpecificDisease denotes WD D006527

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T2056 60-74 SpecificDisease denotes Wilson disease D006527
T2057 76-90 SpecificDisease denotes Wilson disease D006527
T2058 92-94 SpecificDisease denotes WD D006527
T2059 102-130 DiseaseClass denotes autosomal recessive disorder D030342
T2060 365-367 SpecificDisease denotes WD D006527
T2061 1275-1277 SpecificDisease denotes WD D006527
T2062 1338-1340 SpecificDisease denotes WD D006527

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 60-74 Modifier denotes Wilson disease
T2 76-90 SpecificDisease denotes Wilson disease
T3 92-94 SpecificDisease denotes WD
T4 365-367 Modifier denotes WD
T5 1275-1277 Modifier denotes WD
T6 1338-1340 SpecificDisease denotes WD

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 60-74 SpecificDisease denotes Wilson disease
T2 76-90 SpecificDisease denotes Wilson disease
T3 92-94 SpecificDisease denotes WD
T4 365-367 SpecificDisease denotes WD
T5 1275-1277 SpecificDisease denotes WD
T6 1338-1340 SpecificDisease denotes WD

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 60-74 SpecificDisease denotes Wilson disease
T2 76-90 SpecificDisease denotes Wilson disease
T3 92-94 SpecificDisease denotes WD
T4 102-130 DiseaseClass denotes autosomal recessive disorder
T5 365-367 SpecificDisease denotes WD
T6 1275-1277 SpecificDisease denotes WD
T7 1338-1340 SpecificDisease denotes WD

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 60-74 SpecificDisease denotes Wilson disease
T2 76-95 SpecificDisease denotes Wilson disease (WD)
T3 365-367 SpecificDisease denotes WD
T4 653-680 CompositeMention denotes hepatic-type of early onset
T5 825-861 CompositeMention denotes hepato-neurologic type of late onset
T6 1275-1277 SpecificDisease denotes WD
T7 1338-1340 SpecificDisease denotes WD