|
Alzheimer's Disease
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Cystic Fibrosis
|
|
0.720 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
|
Variegate Porphyria
|
|
0.710 |
CausalMutation
|
CLINVAR |
|
|
|
|
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 (finding)
|
|
0.700 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
|
Familial porphyria cutanea tarda
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 (finding)
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Clinical and biochemical abnormalities in people heterozygous for hemochromatosis.
|
8943161 |
1996 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.
|
8696333 |
1996 |
|
Hereditary hemochromatosis
|
|
0.800 |
CausalMutation
|
CLINVAR |
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.
|
8696333 |
1996 |
|
Hereditary hemochromatosis
|
|
0.800 |
CausalMutation
|
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 |
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Compound heterozygotes for the C282Y and the H63D mutations may have a higher risk of iron overload or genetic hemochromatosis than single heterozygotes for the C282Y mutation.
|
9410470 |
1997 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
CausalMutation
|
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
|
|
0.800 |
CausalMutation
|
CLINVAR |
A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations.
|
9341868 |
1997 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
GeneticVariation
|
BEFREE |
A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations.
|
9341868 |
1997 |
|
Hereditary hemochromatosis
|
|
0.800 |
CausalMutation
|
CLINVAR |
The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression.
|
9162021 |
1997 |
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Five patients had no HFE mutations; one of these patients unequivocally has iron overload with a hepatic iron index of 4.4 We conclude that: (1) Identification of HFE mutations will be clinically useful in identifying patients with hereditary hemochromatosis, (2) Patient genotyping will help confirm a diagnosis of hereditary hemochromatosis in some patients with relatively low body iron stores, (3) Significant iron loading can occur in the absence of homozygous C282Y, adding to the evidence that genes other than HFE may be involved in iron loading, and (4) Homozygous H63D can be associated with significant iron overload.
|
9410475 |
1997 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis.
|
9321765 |
1997 |
|
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
To determine the prevalence of the haemochromatosis associated HFE mutations C282Y and H63D in United Kingdom affected and control populations.
|
9462220 |
1997 |
|
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations.
|
9341868 |
1997 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
Compound heterozygotes for the C282Y and the H63D mutations may have a higher risk of iron overload or genetic hemochromatosis than single heterozygotes for the C282Y mutation.
|
9410470 |
1997 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
Five patients had no HFE mutations; one of these patients u</span>nequivocally has iron overload with a hepatic iron index of 4.4 We conclude that: (1) Identification of HFE mutations will be clinically useful in identifying patients with hereditary hemochromatosis, (2) Patient genotyping will help confirm a diagnosis of hereditary hemochromatosis in some patients with relatively low body iron stores, (3) Significant iron loading can occur in the absence of homozygous C282Y, adding to the evidence that genes other than HFE may be involved in iron loading, and (4) Homozygous H63D can be associated with significant iron overload.
|
9410475 |
1997 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
The hemochromatosis 845 G-->A and 187 C-->G mutations: prevalence in non-Caucasian populations.
|
9585606 |
1998 |
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls.
|
9833909 |
1998 |
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
An MHC like gene, HFE, has recently been identified that is mutated in most patients with hereditary haemochromatosis (C282Y in 90% and H63D in 45% of the remainder).
|
10189855 |
1998 |