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: rs1800730
rs1800730
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1 		0.760 GeneticVariation BEFREE Seven studies involving 605 patients with HFE mutations (homozygous or heterozygous mutation of C282Y, H63D or S65C) and 1279 with wild-type HFE (no mutation of C282Y, H63D or S65C for both alleles) were analyzed. 22499121 2012
dbSNP: rs1800730
rs1800730
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1 		0.760 GeneticVariation UNIPROT Screening for hemochromatosis: recommendation statement. 16880462 2006
dbSNP: rs1800730
rs1800730
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1 		0.760 GeneticVariation BEFREE A third HFE mutation, S65C, has been associated with the development of a mild form of hemochromatosis. 15538648 2004
dbSNP: rs1800730
rs1800730
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1 		0.760 GeneticVariation BEFREE Analysis of HFE genotypes indicated that C282Y (but not H63D nor S65C) is a susceptibility factor for the development of sPCT in West European continental patients. 11929045 2002
dbSNP: rs1800730
rs1800730
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1 		0.760 GeneticVariation BEFREE The results do not support the use of DNA genotyping for the HFE S65C mutation in population screening studies for hemochromatosis. 10660483 2000
dbSNP: rs1800730
rs1800730
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1 		0.760 GeneticVariation BEFREE Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands. 10575540 1999
dbSNP: rs1800730
rs1800730
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1 		0.760 GeneticVariation BEFREE This enrichment of S65C among HH chromosomes suggests that the S65C substitution is associated with the mild form of hemochromatosis. 10194428 1999