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PubMed:11358390 JSONTXT

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DisGeNET

Id Subject Object Predicate Lexical cue
T0 1192-1195 gene:3077 denotes HFE
T1 1139-1165 disease:C0392514 denotes hereditary hemochromatosis
R1 T0 T1 associated_with HFE,hereditary hemochromatosis

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
11358390-0#36#41#geners1800562 1410-1415 geners1800562 denotes C282Y
11358390-0#67#82#diseaseC0018995 2190-2205 diseaseC0018995 denotes hemochromatosis
11358390-0#67#82#diseaseC3469186 2190-2205 diseaseC3469186 denotes hemochromatosis
11358390-13#50#54#geners1799945 1860-1864 geners1799945 denotes H63D
11358390-13#97#110#diseaseC0282193 1907-1920 diseaseC0282193 denotes iron overload
11358390-13#136#149#diseaseC0282193 1946-1959 diseaseC0282193 denotes iron overload
11358390-2#169#174#geners1800562 426-431 geners1800562 denotes C282Y
11358390-2#48#74#diseaseC0392514 305-331 diseaseC0392514 denotes hereditary hemochromatosis
11358390-3#55#66#geners35201683 602-613 geners35201683 denotes 750 C --> T
11358390-3#55#66#geners773624350 602-613 geners773624350 denotes 750 C --> T
11358390-3#157#183#diseaseC0392514 704-730 diseaseC0392514 denotes hereditary hemochromatosis
11358390-6#0#4#geners1799945 918-922 geners1799945 denotes H63D
11358390-6#122#148#diseaseC0392514 1040-1066 diseaseC0392514 denotes hereditary hemochromatosis
11358390-7#10#15#geners80338880 1078-1083 geners80338880 denotes Y250X
11358390-7#10#15#geners780246573 1078-1083 geners780246573 denotes Y250X
11358390-7#71#97#diseaseC0392514 1139-1165 diseaseC0392514 denotes hereditary hemochromatosis
36#41#geners180056267#82#diseaseC0018995 11358390-0#36#41#geners1800562 11358390-0#67#82#diseaseC0018995 associated_with C282Y,hemochromatosis
36#41#geners180056267#82#diseaseC3469186 11358390-0#36#41#geners1800562 11358390-0#67#82#diseaseC3469186 associated_with C282Y,hemochromatosis
50#54#geners179994597#110#diseaseC0282193 11358390-13#50#54#geners1799945 11358390-13#97#110#diseaseC0282193 associated_with H63D,iron overload
50#54#geners1799945136#149#diseaseC0282193 11358390-13#50#54#geners1799945 11358390-13#136#149#diseaseC0282193 associated_with H63D,iron overload
169#174#geners180056248#74#diseaseC0392514 11358390-2#169#174#geners1800562 11358390-2#48#74#diseaseC0392514 associated_with C282Y,hereditary hemochromatosis
55#66#geners35201683157#183#diseaseC0392514 11358390-3#55#66#geners35201683 11358390-3#157#183#diseaseC0392514 associated_with 750 C --> T,hereditary hemochromatosis
55#66#geners773624350157#183#diseaseC0392514 11358390-3#55#66#geners773624350 11358390-3#157#183#diseaseC0392514 associated_with 750 C --> T,hereditary hemochromatosis
0#4#geners1799945122#148#diseaseC0392514 11358390-6#0#4#geners1799945 11358390-6#122#148#diseaseC0392514 associated_with H63D,hereditary hemochromatosis
10#15#geners8033888071#97#diseaseC0392514 11358390-7#10#15#geners80338880 11358390-7#71#97#diseaseC0392514 associated_with Y250X,hereditary hemochromatosis
10#15#geners78024657371#97#diseaseC0392514 11358390-7#10#15#geners780246573 11358390-7#71#97#diseaseC0392514 associated_with Y250X,hereditary hemochromatosis

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
11358390-0#0#22#gene7036 612-651 gene7036 denotes T, Y250X) on the transferrin receptor-2
11358390-0#67#82#diseaseC0018995 2190-2205 diseaseC0018995 denotes hemochromatosis
11358390-0#67#82#diseaseC3469186 2190-2205 diseaseC3469186 denotes hemochromatosis
11358390-13#33#37#gene7036 1843-1847 gene7036 denotes TFR2
11358390-13#97#110#diseaseC0282193 1907-1920 diseaseC0282193 denotes iron overload
11358390-13#136#149#diseaseC0282193 1946-1959 diseaseC0282193 denotes iron overload
11358390-3#82#104#gene7036 629-651 gene7036 denotes transferrin receptor-2
11358390-3#106#110#gene7036 653-657 gene7036 denotes TFR2
11358390-3#157#183#diseaseC0392514 704-730 diseaseC0392514 denotes hereditary hemochromatosis
11358390-7#124#127#gene3077 1192-1195 gene3077 denotes HFE
11358390-7#71#97#diseaseC0392514 1139-1165 diseaseC0392514 denotes hereditary hemochromatosis
0#22#gene703667#82#diseaseC0018995 11358390-0#0#22#gene7036 11358390-0#67#82#diseaseC0018995 associated_with "T, Y250X) on the transferrin receptor-2",hemochromatosis
0#22#gene703667#82#diseaseC3469186 11358390-0#0#22#gene7036 11358390-0#67#82#diseaseC3469186 associated_with "T, Y250X) on the transferrin receptor-2",hemochromatosis
33#37#gene703697#110#diseaseC0282193 11358390-13#33#37#gene7036 11358390-13#97#110#diseaseC0282193 associated_with TFR2,iron overload
33#37#gene7036136#149#diseaseC0282193 11358390-13#33#37#gene7036 11358390-13#136#149#diseaseC0282193 associated_with TFR2,iron overload
82#104#gene7036157#183#diseaseC0392514 11358390-3#82#104#gene7036 11358390-3#157#183#diseaseC0392514 associated_with transferrin receptor-2,hereditary hemochromatosis
106#110#gene7036157#183#diseaseC0392514 11358390-3#106#110#gene7036 11358390-3#157#183#diseaseC0392514 associated_with TFR2,hereditary hemochromatosis
124#127#gene307771#97#diseaseC0392514 11358390-7#124#127#gene3077 11358390-7#71#97#diseaseC0392514 associated_with HFE,hereditary hemochromatosis