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PubMed:10220735 JSONTXT

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DisGeNET

Id Subject Object Predicate Lexical cue
T0 196-199 gene:3077 denotes HFE
T1 234-261 disease:C0392514 denotes hereditary haemochromatosis
R1 T0 T1 associated_with HFE,hereditary haemochromatosis

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
10220735-3#38#43#geners1800562 301-306 geners1800562 denotes C282Y
10220735-3#24#36#geners1800562 287-299 geners1800562 denotes Cys282-->Tyr
10220735-3#100#127#diseaseC0392514 363-390 diseaseC0392514 denotes hereditary haemochromatosis
10220735-5#70#74#geners1799945 613-617 geners1799945 denotes H63D
10220735-5#119#146#diseaseC0392514 662-689 diseaseC0392514 denotes hereditary haemochromatosis
38#43#geners1800562100#127#diseaseC0392514 10220735-3#38#43#geners1800562 10220735-3#100#127#diseaseC0392514 associated_with C282Y,hereditary haemochromatosis
24#36#geners1800562100#127#diseaseC0392514 10220735-3#24#36#geners1800562 10220735-3#100#127#diseaseC0392514 associated_with Cys282-->Tyr,hereditary haemochromatosis
70#74#geners1799945119#146#diseaseC0392514 10220735-5#70#74#geners1799945 10220735-5#119#146#diseaseC0392514 associated_with H63D,hereditary haemochromatosis