Hemochromatosis

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