|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
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 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
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 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
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 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Clinical and biochemical abnormalities in people heterozygous for hemochromatosis.
|
8943161 |
1996 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis.
|
8916933 |
1996 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.
|
8696333 |
1996 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.
|
8696333 |
1996 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression.
|
9162021 |
1997 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.
|
9106528 |
1997 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda.
|
9024376 |
1997 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The molecular analysis of this event and the segregation of the HFE mutations in the family are consistent with the position of the HFE gene telomeric to D6S2221.
|
9401103 |
1997 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
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 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Because the HFE locus has been mapped distal to the HLA-F class I locus at 6p21.3, the breakpoints associated with this chromosomal rearrangement may provide a significant genomic landmark for positional cloning of the HFE gene.
|
9032645 |
1997 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis.
|
9321765 |
1997 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A common prothrombin variant (20210 G to A) increases the risk of myocardial infarction in young women.
|
9292507 |
1997 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations.
|
9341868 |
1997 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
CausalMutation
|
disease |
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 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Interaction of coagulation defects and cardiovascular risk factors: increased risk of myocardial infarction associated with factor V Leiden or prothrombin 20210A.
|
9531249 |
1998 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
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 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
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 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
The hemochromatosis 845 G-->A and 187 C-->G mutations: prevalence in non-Caucasian populations.
|
9585606 |
1998 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
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 |