|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
A |
0.900 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
A |
0.900 |
CausalMutation
|
CLINVAR |
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.
|
8696333 |
1996 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
A |
0.900 |
CausalMutation
|
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 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Clinical and biochemical abnormalities in people heterozygous for hemochromatosis.
|
8943161 |
1996 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
Here we report that the Cys282Tyr change accounts for 69% of HH chromosomes in a series of 75 unrelated Italian patients who fulfilled well-defined criteria for HH diagnosis.
|
9106528 |
1997 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
A |
0.900 |
CausalMutation
|
CLINVAR |
The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression.
|
9162021 |
1997 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
This second mutation, which probably represents a common variant unrelated to hemochromatosis, thus appears to have occurred earlier than that responsible for the Cys282Tyr substitution.
|
9211748 |
1997 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
A |
0.900 |
CausalMutation
|
CLINVAR |
A common prothrombin variant (20210 G to A) increases the risk of myocardial infarction in young women.
|
9292507 |
1997 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations.
|
9341868 |
1997 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
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 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
The aim of this study was to investigate the role of the hemochromatosis mutation Cys282Tyr in development of the mild hepatic iron overload found in some patients with NASH and its association with hepatic damage in these patients.
|
9453491 |
1998 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
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 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Interaction of coagulation defects and cardiovascular risk factors: increased risk of myocardial infarction associated with factor V Leiden or prothrombin 20210A.
|
9531249 |
1998 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
Additional factors may favor the development of a relatively mild hemochromatosis phenotype in patients nonhomozygous for the C282Y mutation.
|
9558289 |
1998 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
In Australia, 17.3% of subjects homozygous for the C282Y mutation do not express iron overload to meet current diagnostic criteria of hemochromatosis.
|
9558290 |
1998 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Geographic distribution of the 20210 G to A prothrombin variant.
|
9569177 |
1998 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
Of the 20 subjects with a hepatic iron index (HII) in the previously defined "hemochromatosis range" (>1.9), 9 (45%) were C282Y homozygotes.
|
9576576 |
1998 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
Frequency of the C282Y mutation of hemochromatosis in five French populations.
|
9642097 |
1998 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
These findings suggest that if the Cys282Tyr mutation confers susceptibility to hemochromatosis in Caucasians (as suggested by recent studies) there is an alternative mechanism for hemochromatosis in the American black population.
|
9662273 |
1998 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
A |
0.900 |
CausalMutation
|
CLINVAR |
A single genetic origin for the common prothrombotic G20210A polymorphism in the prothrombin gene.
|
9694698 |
1998 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
The gene responsible for HC has recently been cloned and is termed HFE; two missense mutations have been reported in the gene, both cause amino acid substitutions (H63D and C282Y), but to date only the C282Y mutation has been found to clearly correlate with HC in all affected populations.
|
9723005 |
1998 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
Celtic origin of the C282Y mutation of hemochromatosis.
|
9851897 |
1998 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
To date, only homozygosity for the C282Y mutation is considered as a diagnostic criterion of hemochromatosis.
|
9858853 |
1999 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Frequent factor II G20210A mutation in idiopathic portal vein thrombosis.
|
9869612 |
1999 |