HFE, homeostatic iron regulator, 3077

N. diseases: 415; N. variants: 59
Disease: Hemochromatosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.600 GeneticVariation disease BEFREE A study of 609 HLA haplotypes marking for the hemochromatosis gene: (1) mapping of the gene near the HLA-A locus and characters required to define a heterozygous population and (2) hypothesis concerning the underlying cause of hemochromatosis-HLA association. 3475981 1987
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.600 Biomarker disease BEFREE This study was designed to determine the efficacy of transferrin saturation as a screening tool for hemochromatosis and to assess the frequency of homozygosity for the HLA-linked hemochromatosis gene in a healthy population. 3367936 1988
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.600 GeneticVariation disease BEFREE Haplotype analysis in Australian HC patients thus provides strong evidence for (a) the introduction of HC into this population on an ancestral haplotype, (b) a common mutation associated with HC in Australian patients, and (c) a candidate HC-gene region extending between and including D6S248 and D6S105. 7847378 1995
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.600 GeneticVariation disease BEFREE The incidence of PCT in the hemochromatosis group was 23%; HLA typing revealed the presence of at least 1 of the hemochromatosis markers. 9301586 1997
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.600 GeneticVariation disease BEFREE To determine the prevalence of the haemochromatosis associated HFE mutations C282Y and H63D in United Kingdom affected and control populations. 9462220 1997
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.600 GeneticVariation disease BEFREE The aim of this study was to reassess the phenotypic diagnostic criteria for hemochromatosis in patients homozygous for the C282Y mutation of the HFE gene. 9453492 1998
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.600 GeneticVariation disease BEFREE The C282Y mutation in the HFE gene is the main mutation causing hemochromatosis, and C282Y frequencies have been reported for various European populations. 9851897 1998
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.600 GeneticVariation disease BEFREE Major histocompatibility complex class I associations in iron overload: evidence for a new link between the HFE H63D mutation, HLA-A29, and non-classical forms of hemochromatosis. 9510559 1998
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.600 GeneticVariation disease BEFREE Our data do not confirm an association of PCT with the Cys282Tyr HFE mutation, strongly associated with hemochromatosis in Northern European countries. 9425935 1998
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.600 Biomarker disease BEFREE Mutations of a novel MHC class I-like protein, termed HFE, have been found in the vast majority of patients with the iron overload disease heredity hemochromatosis. 9884584 1998
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.600 GeneticVariation disease BEFREE We evaluated the frequency of hemochromatosis gene (HFE) mutations and the contribution of HFE genotype, ancestral haplotype, ethnic background, and additional factors (alcohol intake, hepatitis viruses, and beta-thalassemia trait) to the severity of iron overload in a large series of Italian patients with a hemochromatosis phenotype. 9558289 1998
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.600 Biomarker disease BEFREE A DNA-based test for the HFE gene is commercially available, but its place in the diagnosis of hemochromatosis is still being evaluated. 9867744 1998
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.600 GeneticVariation disease BEFREE The first important step toward establishing the role of HFE in the pathogenesis of HC came with the recent observation that the C282Y mutation disrupts the binding of beta 2-microglobulin to the HFE protein and as a result the mutant molecule is not expressed on the cell surface. 9723005 1998
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.600 GeneticVariation disease BEFREE To test whether genetic haemochromatosis is associated with increased atherosclerosis, we determined the prevalence of two mutations in the HFE gene related to haemochromatosis (845G-->A; Cys282Tyr. and 187 C-->G, His63Asp) in 265 consecutive patients with premature (<50 years of age) angiographically-proven atherosclerotic disease (coronary and/or peripheral), and in 272 healthy controls. 9753040 1998
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.600 GeneticVariation disease BEFREE We performed PCR-based analysis for the haemochromatosis-related HFE C282Y mutation in an extended family with inherited haemolytic anaemia in which several members exhibited iron overload. 9753042 1998
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.600 GeneticVariation disease BEFREE The 2.6 A crystal structure of HFE reveals the locations of hemochromatosis mutations and a patch of histidines that could be involved in pH-dependent interactions. 9546397 1998
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.600 GeneticVariation disease BEFREE Two siblings in a pedigree without cardiomyopathy were wild-type at the HFE C282Y locus; although the brother harboured a single copy of the 187C-->G (H63D) allele, segregation analysis showed that in neither sibling was the iron-storage disease linked to MHC Class I markers on chromosome 6p. 10024915 1998
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.600 GeneticVariation disease BEFREE High frequencies of the haemochromatosis-related HFE C282Y mutation have been reported in North European populations, in which a high proportion of patients with the disease are homozygotes. 9609537 1998
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.600 GeneticVariation disease BEFREE High incidence of the Cys 282 Tyr mutation in the HFE gene in the Irish population--implications for haemochromatosis. 9864039 1998
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.600 GeneticVariation disease BEFREE A newly-identified major histocompatibility Class I-like gene, HFE (originally HLA-H) located approximately 3.5 Mb telomeric to the Class I cluster on chromosome 6p 21.3 harbours mutations in haemochromatosis. 9691000 1998
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.600 GeneticVariation disease BEFREE The purpose of this study was to establish a rapid method suitable for large-scale population screening, including blood donors, for the detection of two genetic mutations at codons 63 and 282 on the HFE gene that are associated with haemochromatosis. 9852416 1998
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.600 GeneticVariation disease BEFREE The haemochromatosis candidate gene HFE (HLA-H) of man and mouse is located in syntenic regions within the histone gene cluster. 9548560 1998
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.600 Biomarker disease BEFREE Hemochromatosis in Ireland and HFE. 9851896 1998
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.600 GeneticVariation disease BEFREE To determine the frequency of HFE gene mutations in the general population, their effect on serum iron indexes, and their role in screening for haemochromatosis. 9824612 1998
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.600 GeneticVariation disease BEFREE HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. 10194428 1999