Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3077
Gene Symbol: HFE
HFE
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.700 CausalMutation CLINVAR EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH). 26153218

2016
Entrez Id: 3077
Gene Symbol: HFE
HFE
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.700 CausalMutation CLINVAR Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network. 26365338

2015
Entrez Id: 3077
Gene Symbol: HFE
HFE
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.700 CausalMutation CLINVAR Iron overload is rare in patients homozygous for the H63D mutation. 24729993

2014
Entrez Id: 3077
Gene Symbol: HFE
HFE
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.700 CausalMutation CLINVAR HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity. 19554541

2009
Entrez Id: 3077
Gene Symbol: HFE
HFE
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.700 CausalMutation CLINVAR Contribution of different HFE genotypes to iron overload disease: a pooled analysis. 11399207

2008
Entrez Id: 3077
Gene Symbol: HFE
HFE
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.700 CausalMutation CLINVAR The molecular genetics of haemochromatosis. 16132052

2005
Entrez Id: 3077
Gene Symbol: HFE
HFE
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.700 CausalMutation CLINVAR Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis. 14673107

2003
Entrez Id: 3077
Gene Symbol: HFE
HFE
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.700 CausalMutation CLINVAR The hemochromatosis protein HFE inhibits iron export from macrophages. 12429850

2002
Entrez Id: 3077
Gene Symbol: HFE
HFE
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.700 CausalMutation CLINVAR A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation. 11874997

2002
Entrez Id: 3077
Gene Symbol: HFE
HFE
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.700 CausalMutation CLINVAR Variable phenotypic presentation of iron overload in H63D homozygotes: are genetic modifiers the cause? 11358905

2001
Entrez Id: 3077
Gene Symbol: HFE
HFE
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.700 CausalMutation CLINVAR HFE gene and hereditary hemochromatosis: a HuGE review. Human Genome Epidemiology. 11479183

2001
Entrez Id: 3077
Gene Symbol: HFE
HFE
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.700 CausalMutation CLINVAR Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells. 9356458

1997
Entrez Id: 3077
Gene Symbol: HFE
HFE
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.700 CausalMutation CLINVAR The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression. 9162021

1997
Entrez Id: 3077
Gene Symbol: HFE
HFE
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.700 CausalMutation CLINVAR A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. 8696333

1996