HFE, homeostatic iron regulator, 3077

N. diseases: 415; N. variants: 59
Disease: HEMOCHROMATOSIS, TYPE 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934595
rs28934595
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1 		0.800 GeneticVariation UNIPROT An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1. 18157833 2008
dbSNP: rs28934595
rs28934595
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1 		0.800 GeneticVariation UNIPROT Screening for hemochromatosis: recommendation statement. 16880462 2006
dbSNP: rs28934595
rs28934595
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1 		0.800 GeneticVariation UNIPROT The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein. 15965644 2005
dbSNP: rs28934595
rs28934595
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1 		0.800 GeneticVariation UNIPROT Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect. 12737937 2004
dbSNP: rs28934595
rs28934595
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1 		0.800 GeneticVariation UNIPROT Gene symbol: HFE. Disease: Haemochromatosis. 15046077 2004
dbSNP: rs28934595
rs28934595
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1 		0.800 GeneticVariation UNIPROT Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload. 14633868 2003
dbSNP: rs28934595
rs28934595
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1 		0.800 GeneticVariation UNIPROT Heterozygous recipient and donor HFE mutations associated with a hereditary haemochromatosis phenotype after liver transplantation. 12584229 2003
dbSNP: rs28934595
rs28934595
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1 		0.800 GeneticVariation UNIPROT Comprehensive hereditary hemochromatosis genotyping. 12542741 2002
dbSNP: rs28934595
rs28934595
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1 		0.800 GeneticVariation UNIPROT Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy. 11423500 2001
dbSNP: rs28934595
rs28934595
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1 		0.800 GeneticVariation UNIPROT Idiopathic hemochromatosis with the mutation of Ala176Val heterozygous for HFE gene. 11446670 2001
dbSNP: rs28934595
rs28934595
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1 		0.800 GeneticVariation UNIPROT Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria. 10401000 1999
dbSNP: rs28934595
rs28934595
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1 		0.800 GeneticVariation UNIPROT Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands. 10575540 1999
dbSNP: rs28934595
rs28934595
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1 		0.800 GeneticVariation UNIPROT A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations. 10094552 1999
dbSNP: rs28934595
rs28934595
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1 		0.800 GeneticVariation UNIPROT HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. 10194428 1999
dbSNP: rs28934595
rs28934595
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1 		0.800 GeneticVariation UNIPROT Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America. 9620340 1998
dbSNP: rs28934595
rs28934595
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1 		0.800 GeneticVariation UNIPROT Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. 9024376 1997
dbSNP: rs28934595
rs28934595
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1 		0.800 GeneticVariation UNIPROT Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. 9106528 1997
dbSNP: rs28934595
rs28934595
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1 		0.800 GeneticVariation UNIPROT A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. 8696333 1996
dbSNP: rs28934595
rs28934595
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1 		C 0.800 CausalMutation CLINVAR