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PubMed:1740503 JSONTXT

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DisGeNET

Id Subject Object Predicate Lexical cue
T0 73-78 gene:1586 denotes CYP17
T1 107-135 disease:C0235797 denotes ambiguous external genitalia
T2 73-78 gene:1586 denotes CYP17
T3 203-219 disease:C1291557 denotes lyase deficiency
R1 T0 T1 associated_with CYP17,ambiguous external genitalia
R2 T2 T3 associated_with CYP17,lyase deficiency

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 431-455 HP_0000037 denotes male pseudohermaphrodite
T2 461-489 HP_0000062 denotes ambiguous external genitalia
T3 1505-1533 HP_0000062 denotes ambiguous external genitalia
T1 431-455 HP_0000037 denotes male pseudohermaphrodite
T2 461-489 HP_0000062 denotes ambiguous external genitalia
T3 1505-1533 HP_0000062 denotes ambiguous external genitalia

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
1740503-0#33#48#geners104894136 33-48 geners104894136 denotes Arg 239----stop
1740503-0#50#64#geners104894137 50-64 geners104894137 denotes Pro 342----Thr
1740503-0#107#135#diseaseC0266362 107-135 diseaseC0266362 denotes ambiguous external genitalia
1740503-0#203#219#diseaseC1291557 203-219 diseaseC1291557 denotes lyase deficiency
1740503-0#107#135#diseaseC0266362 107-135 diseaseC0266362 denotes ambiguous external genitalia
1740503-0#203#219#diseaseC1291557 203-219 diseaseC1291557 denotes lyase deficiency
33#48#geners104894136107#135#diseaseC0266362 1740503-0#33#48#geners104894136 1740503-0#107#135#diseaseC0266362 associated_with Arg 239----stop,ambiguous external genitalia
33#48#geners104894136203#219#diseaseC1291557 1740503-0#33#48#geners104894136 1740503-0#203#219#diseaseC1291557 associated_with Arg 239----stop,lyase deficiency
33#48#geners104894136107#135#diseaseC0266362 1740503-0#33#48#geners104894136 1740503-0#107#135#diseaseC0266362 associated_with Arg 239----stop,ambiguous external genitalia
33#48#geners104894136203#219#diseaseC1291557 1740503-0#33#48#geners104894136 1740503-0#203#219#diseaseC1291557 associated_with Arg 239----stop,lyase deficiency
50#64#geners104894137107#135#diseaseC0266362 1740503-0#50#64#geners104894137 1740503-0#107#135#diseaseC0266362 associated_with Pro 342----Thr,ambiguous external genitalia
50#64#geners104894137203#219#diseaseC1291557 1740503-0#50#64#geners104894137 1740503-0#203#219#diseaseC1291557 associated_with Pro 342----Thr,lyase deficiency
50#64#geners104894137107#135#diseaseC0266362 1740503-0#50#64#geners104894137 1740503-0#107#135#diseaseC0266362 associated_with Pro 342----Thr,ambiguous external genitalia
50#64#geners104894137203#219#diseaseC1291557 1740503-0#50#64#geners104894137 1740503-0#203#219#diseaseC1291557 associated_with Pro 342----Thr,lyase deficiency

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
1740503-0#73#78#gene1586 73-78 gene1586 denotes CYP17
1740503-0#107#135#diseaseC0266362 107-135 diseaseC0266362 denotes ambiguous external genitalia
1740503-0#203#219#diseaseC1291557 203-219 diseaseC1291557 denotes lyase deficiency
73#78#gene1586107#135#diseaseC0266362 1740503-0#73#78#gene1586 1740503-0#107#135#diseaseC0266362 associated_with CYP17,ambiguous external genitalia
73#78#gene1586203#219#diseaseC1291557 1740503-0#73#78#gene1586 1740503-0#203#219#diseaseC1291557 associated_with CYP17,lyase deficiency