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PubMed:10087990 JSONTXT

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DisGeNET

Id Subject Object Predicate Lexical cue
T0 0-20 gene:7037 denotes Transferrin receptor
T1 42-68 disease:C0392514 denotes hereditary hemochromatosis
T2 112-115 gene:3077 denotes HFE
T3 151-177 disease:C0392514 denotes hereditary hemochromatosis
T4 1021-1024 gene:3077 denotes HFE
T5 990-992 disease:C0392514 denotes HH
T6 1021-1024 gene:3077 denotes HFE
T7 962-988 disease:C0392514 denotes hereditary hemochromatosis
R1 T0 T1 associated_with Transferrin receptor,hereditary hemochromatosis
R2 T2 T3 associated_with HFE,hereditary hemochromatosis
R3 T4 T5 associated_with HFE,HH
R4 T6 T7 associated_with HFE,hereditary hemochromatosis

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
10087990-1#4#16#geners1800562 83-95 geners1800562 denotes Cys282-->Tyr
10087990-1#72#98#diseaseC0392514 151-177 diseaseC0392514 denotes hereditary hemochromatosis
4#16#geners180056272#98#diseaseC0392514 10087990-1#4#16#geners1800562 10087990-1#72#98#diseaseC0392514 associated_with Cys282-->Tyr,hereditary hemochromatosis

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
10087990-0#0#20#gene7037 266-431 gene7037 denotes This suggests a possibility that these patients may have a mutation in other genes in the same pathway as HFE. We analyzed the cDNA sequences of transferrin receptor
10087990-0#42#68#diseaseC0392514 815-988 diseaseC0392514 denotes his amino acid substitution was a rather common polymorphism in the general population (49%) and its frequency did not significantly differ in the hereditary hemochromatosis
10087990-5#207#210#gene3077 1021-1024 gene3077 denotes HFE
10087990-5#148#174#diseaseC0392514 962-988 diseaseC0392514 denotes hereditary hemochromatosis
10087990-5#176#178#diseaseC0392514 990-992 diseaseC0392514 denotes HH
0#20#gene703742#68#diseaseC0392514 10087990-0#0#20#gene7037 10087990-0#42#68#diseaseC0392514 associated_with This suggests a possibility that these patients may have a mutation in other genes in the same pathway as HFE. We analyzed the cDNA sequences of transferrin receptor,his amino acid substitution was a rather common polymorphism in the general population (49%) and its frequency did not significantly differ in the hereditary hemochromatosis
207#210#gene3077148#174#diseaseC0392514 10087990-5#207#210#gene3077 10087990-5#148#174#diseaseC0392514 associated_with HFE,hereditary hemochromatosis
207#210#gene3077176#178#diseaseC0392514 10087990-5#207#210#gene3077 10087990-5#176#178#diseaseC0392514 associated_with HFE,HH