Disease Term Disease ID Gene Symbol References
Hemochromatosis C0018995 BMP2
BMP6 19252486, 19252488
CP 17258727
HFE 27604308, 17376729, 23705020, 17258727, 18317567, 17236123, 21411349, 20843714, 17119292, 20160468, 16793930, 17255318, 22383097, 25874029, 11050162
HP 16597321
SLC11A2 11439223
AKR1D1 18624455
TFR2 17241880, 22383097, 21411349, 16935854
TNF 16793930
SLC40A1 21411349, 16457665
HAMP 16574947, 21411349, 19252486, 17255318, 22383097, 16627556
HJV 21411349, 16868025, 19252486, 17255318
Hemochromatosis type 2 79230 HAMP
HJV
Hemochromatosis type 3 225123 TFR2
Hemochromatosis type 4 139491 SLC40A1
Hemochromatosis type 5 447792 BMP6
HEMOCHROMATOSIS, TYPE 1 C3469186 BMP2 29198724
HFE 19159930, 10401000, 9162021, 9106528, 14633868, 10575540, 9024376, 9531249, 11812557, 10477778, 27604308, 18199861, 11583312, 12060140, 15965644, 10094552, 9585606, 15046077, 8943161, 10930379, 25767899, 19176287, 22909823, 21452290, 11446670, 22531912, 18157833, 22023246, 10194428, 14729817, 22021457, 15059842, 10348711, 12542741, 11380448, 10406905, 9321765, 25528068, 11874997, 9292507, 9620340, 12436244, 9869612, 9341868, 19554541, 12584229, 10381492, 10027711, 8916933, 8696333, 23178241, 9569177, 12737937, 20723024, 21243428, 27124787, 26365338, 24619398, 15858186, 9694698, 11423500, 9356458
TF 25457201
HAMP
HJV
HEMOCHROMATOSIS, TYPE 2A C1865614 HJV 15461631, 14982873, 14647275, 19796184, 15811010, 17339196, 14982867, 27604308, 15610558
HEMOCHROMATOSIS, TYPE 2B C1865616 HAMP 12915468, 14630809, 15099344, 27604308, 14633868, 14670915
HEMOCHROMATOSIS, TYPE 3 C1858664 TFR2 14633868, 11313241, 26029709, 27604308, 29985876, 12130528
HEMOCHROMATOSIS, TYPE 4 C1853733 SLC40A1 12091366, 16351644, 21411349, 15466004, 12123233, 22584997, 12406098, 10471458, 23943237, 11431687, 12865285, 12091367, 12730114, 12857562, 24714983, 11518736, 10747949, 15338274, 21396368, 21199650
HFE-Associated Hereditary Hemochromatosis C2827503 TF 25457201
Juvenile hemochromatosis C0268060 HJV 22408404, 14647275, 14982873, 14982867, 17339196
NON RARE IN EUROPE: Hemochromatosis type 1 139498 HFE