rs111033558
×
Entrez Id:
3077
Gene Symbol:
HFE
HFE
HEMOCHROMATOSIS, TYPE 1
0.800
GeneticVariation
UNIPROT
Heterozygous recipient and donor HFE mutations associated with a hereditary haemochromatosis phenotype after liver transplantation.
12584229
2003
rs111033558
×
Entrez Id:
3077
Gene Symbol:
HFE
HFE
HEMOCHROMATOSIS, TYPE 1
0.800
GeneticVariation
UNIPROT
Screening for hemochromatosis: recommendation statement.
16880462
2006
rs111033558
×
Entrez Id:
3077
Gene Symbol:
HFE
HFE
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
rs111033558
×
Entrez Id:
3077
Gene Symbol:
HFE
HFE
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
rs111033558
×
Entrez Id:
3077
Gene Symbol:
HFE
HFE
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
rs111033558
×
Entrez Id:
3077
Gene Symbol:
HFE
HFE
HEMOCHROMATOSIS, TYPE 1
0.800
GeneticVariation
UNIPROT
Idiopathic hemochromatosis with the mutation of Ala176Val heterozygous for HFE gene.
11446670
2001
rs111033558
×
Entrez Id:
3077
Gene Symbol:
HFE
HFE
HEMOCHROMATOSIS, TYPE 1
0.800
GeneticVariation
UNIPROT
Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda.
9024376
1997
rs111033558
×
Entrez Id:
3077
Gene Symbol:
HFE
HFE
HEMOCHROMATOSIS, TYPE 1
0.800
GeneticVariation
UNIPROT
Gene symbol: HFE. Disease: Haemochromatosis.
15046077
2004
rs111033558
×
Entrez Id:
3077
Gene Symbol:
HFE
HFE
HEMOCHROMATOSIS, TYPE 1
0.800
GeneticVariation
UNIPROT
Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.
10401000
1999
rs111033558
×
Entrez Id:
3077
Gene Symbol:
HFE
HFE
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
rs111033558
×
Entrez Id:
3077
Gene Symbol:
HFE
HFE
HEMOCHROMATOSIS, TYPE 1
0.800
GeneticVariation
UNIPROT
Comprehensive hereditary hemochromatosis genotyping.
12542741
2002
rs111033558
×
Entrez Id:
3077
Gene Symbol:
HFE
HFE
HEMOCHROMATOSIS, TYPE 1
0.800
GeneticVariation
UNIPROT
Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America.
9620340
1998
rs111033558
×
Entrez Id:
3077
Gene Symbol:
HFE
HFE
HEMOCHROMATOSIS, TYPE 1
0.800
GeneticVariation
UNIPROT
Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.
9106528
1997
rs111033558
×
Entrez Id:
3077
Gene Symbol:
HFE
HFE
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
rs111033558
×
Entrez Id:
3077
Gene Symbol:
HFE
HFE
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
rs111033558
×
Entrez Id:
3077
Gene Symbol:
HFE
HFE
HEMOCHROMATOSIS, TYPE 1
T
0.800
CausalMutation
CLINVAR
rs111033558
×
Entrez Id:
3077
Gene Symbol:
HFE
HFE
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
rs111033558
×
Entrez Id:
3077
Gene Symbol:
HFE
HFE
HEMOCHROMATOSIS, TYPE 1
0.800
GeneticVariation
UNIPROT
A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations.
10094552
1999
rs111033558
×
Entrez Id:
3077
Gene Symbol:
HFE
HFE
HEMOCHROMATOSIS, TYPE 1
0.800
GeneticVariation
UNIPROT
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.
8696333
1996