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PubMed:14699510 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-91 Sentence denotes PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor.
TextSentencer_T2 92-224 Sentence denotes Familial gastrointestinal stromal tumor (GIST) is a rare autosomal dominant genetic disorder associated with KIT germline mutations.
TextSentencer_T3 225-311 Sentence denotes In sporadic forms of the disease, somatic mutations target either KIT or PDGFRA genes.
TextSentencer_T4 312-420 Sentence denotes In a kindred in which 5 individuals had GIST, no germline mutation in KIT coding sequence has been detected.
TextSentencer_T5 421-504 Sentence denotes We hypothesized that the PDGFRA gene could be a predisposing gene in familial GIST.
TextSentencer_T6 505-610 Sentence denotes We sequenced PDGFRA exons 12 and 18 because several somatic mutations were identified within this region.
TextSentencer_T7 611-760 Sentence denotes We detected a germline PDGFRA missense mutation, 2675G > T, resulting in a tyrosine substitution for the highly conserved aspartic acid at codon 846.
TextSentencer_T8 761-862 Sentence denotes This mutation showed perfect cosegregation with the GIST phenotype among the 7 family members tested.
TextSentencer_T9 863-974 Sentence denotes Interestingly, PDGFRA Asp846 is homologous to codon 820, which is located in the KIT tyrosine kinase II domain.
TextSentencer_T10 975-1097 Sentence denotes In a previous study, a KIT germline Asp820Tyr mutation was detected in a Japanese kindred in which 6 individuals had GIST.
TextSentencer_T11 1098-1237 Sentence denotes Transfection of a KIT820Tyr complementary DNA in nude mice was found to be tumorigenic confirming the oncogenic potential of this mutation.
TextSentencer_T12 1238-1318 Sentence denotes The present study shows that PDGFRA is a second familial GIST predisposing gene.
TextSentencer_T13 1319-1434 Sentence denotes These results indicate a further example of involvement of structurally related genes in familial cancer syndromes.
T1 0-91 Sentence denotes PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor.
T2 92-224 Sentence denotes Familial gastrointestinal stromal tumor (GIST) is a rare autosomal dominant genetic disorder associated with KIT germline mutations.
T3 225-311 Sentence denotes In sporadic forms of the disease, somatic mutations target either KIT or PDGFRA genes.
T4 312-420 Sentence denotes In a kindred in which 5 individuals had GIST, no germline mutation in KIT coding sequence has been detected.
T5 421-504 Sentence denotes We hypothesized that the PDGFRA gene could be a predisposing gene in familial GIST.
T6 505-610 Sentence denotes We sequenced PDGFRA exons 12 and 18 because several somatic mutations were identified within this region.
T7 611-760 Sentence denotes We detected a germline PDGFRA missense mutation, 2675G > T, resulting in a tyrosine substitution for the highly conserved aspartic acid at codon 846.
T8 761-862 Sentence denotes This mutation showed perfect cosegregation with the GIST phenotype among the 7 family members tested.
T9 863-974 Sentence denotes Interestingly, PDGFRA Asp846 is homologous to codon 820, which is located in the KIT tyrosine kinase II domain.
T10 975-1097 Sentence denotes In a previous study, a KIT germline Asp820Tyr mutation was detected in a Japanese kindred in which 6 individuals had GIST.
T11 1098-1237 Sentence denotes Transfection of a KIT820Tyr complementary DNA in nude mice was found to be tumorigenic confirming the oncogenic potential of this mutation.
T12 1238-1318 Sentence denotes The present study shows that PDGFRA is a second familial GIST predisposing gene.
T13 1319-1434 Sentence denotes These results indicate a further example of involvement of structurally related genes in familial cancer syndromes.

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 101-131 HP_0100723 denotes gastrointestinal stromal tumor
T2 126-131 HP_0002664 denotes tumor
T3 133-137 HP_0100723 denotes GIST
T4 149-167 HP_0000006 denotes autosomal dominant
T5 259-276 HP_0001428 denotes somatic mutations
T6 352-356 HP_0100723 denotes GIST
T7 499-503 HP_0100723 denotes GIST
T8 557-574 HP_0001428 denotes somatic mutations
T9 813-817 HP_0100723 denotes GIST
T10 1092-1096 HP_0100723 denotes GIST
T11 1295-1299 HP_0100723 denotes GIST
T12 1417-1423 HP_0002664 denotes cancer

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
14699510-9#36#45#geners121913265 1011-1020 geners121913265 denotes Asp820Tyr
14699510-9#117#121#diseaseC0238198 1092-1096 diseaseC0238198 denotes GIST
36#45#geners121913265117#121#diseaseC0238198 14699510-9#36#45#geners121913265 14699510-9#117#121#diseaseC0238198 associated_with Asp820Tyr,GIST

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
14699510-0#0#6#gene5156 0-6 gene5156 denotes PDGFRA
14699510-0#60#90#diseaseC0238198 60-90 diseaseC0238198 denotes gastrointestinal stromal tumor
14699510-9#23#26#gene3815 998-1001 gene3815 denotes KIT
14699510-9#117#121#diseaseC0238198 1092-1096 diseaseC0238198 denotes GIST
0#6#gene515660#90#diseaseC0238198 14699510-0#0#6#gene5156 14699510-0#60#90#diseaseC0238198 associated_with PDGFRA,gastrointestinal stromal tumor
23#26#gene3815117#121#diseaseC0238198 14699510-9#23#26#gene3815 14699510-9#117#121#diseaseC0238198 associated_with KIT,GIST

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 101-131 ORDO:44890 denotes gastrointestinal stromal tumor
AB2 133-137 ORDO:44890 denotes GIST
TI1 60-90 ORDO:44890 denotes gastrointestinal stromal tumor
AB3 352-356 ORDO:44890 denotes GIST
AB4 499-503 ORDO:44890 denotes GIST
AB5 813-817 ORDO:44890 denotes GIST
AB6 1092-1096 ORDO:44890 denotes GIST
AB7 1295-1299 ORDO:44890 denotes GIST

DisGeNET

Id Subject Object Predicate Lexical cue
T0 1267-1273 gene:5156 denotes PDGFRA
T1 1295-1299 disease:C0238198 denotes GIST
R1 T0 T1 associated_with PDGFRA,GIST