Hereditary hemochromatosis

Disease Term Disease ID Gene Symbol Classification References Source
Hereditary hemochromatosis C0392514 HAMP Causal Pathogenic evidence from ClinVar 16574947, 16627556, 17255318, 19252486, 21411349, 22383097 ClinVar
HFE Causal Pathogenic evidence from ClinVar 8696333, 9162021, 9356458, 11050162, 11358905, 11399207, 11479183, 11874997, 12429850, 14673107, 16132052, 16793930, 17119292, 17236123, 17255318, 17258727, 17376729, 18317567, 19554541, 20160468, 20843714, 21411349, 22383097, 23705020, 24729993, 25874029, 26153218, 26365338 ClinVar
TFR2 Causal Pathogenic evidence from ClinVar 16935854, 17241880, 21411349, 22383097, 23600741, 26029709, 26408288 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 -
HJV Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16868025, 17255318, 19252486, 21411349 -
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 -
SLC40A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16457665, 21411349 -
TF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25457201 -
TNF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16793930 -