|
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 |
|
|
|
|
Generalized osteoarthritis
|
|
0.020 |
GeneticVariation
|
BEFREE |
.To test the hypothesis that possession of either C282Y or H63D mutations in the HFE gene is associated with primary osteoarthritis (OA) in joints commonly affected in hemochromatotic arthropathy.
|
16583477 |
2006 |
|
Idiopathic osteoarthritis
|
|
0.010 |
GeneticVariation
|
BEFREE |
.To test the hypothesis that possession of either C282Y or H63D mutations in the HFE gene is associated with primary osteoarthritis (OA) in joints commonly affected in hemochromatotic arthropathy.
|
16583477 |
2006 |
|
Arthropathy
|
|
0.020 |
GeneticVariation
|
BEFREE |
.To test the hypothesis that possession of either C282Y or H63D mutations in the HFE gene is associated with primary osteoarthritis (OA) in joints commonly affected in hemochromatotic arthropathy.
|
16583477 |
2006 |
|
Multiple Myeloma
|
|
0.010 |
GeneticVariation
|
BEFREE |
49 patients with MM were compared to 61 patients with myelodysplastic syndrome (MDS) concerning the incidence of two genetic variants of the HFE gene (C282Y and H63D) identified with PCR-RFLP.
|
17001480 |
2006 |
|
MYELODYSPLASTIC SYNDROME
|
|
0.040 |
GeneticVariation
|
BEFREE |
49 patients with MM were compared to 61 patients with myelodysplastic syndrome (MDS) concerning the incidence of two genetic variants of the HFE gene (C282Y and H63D) identified with PCR-RFLP.
|
17001480 |
2006 |
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
57 patients with PCT drawn from three ethnic groups were screened for the presence of the C282Y and H63D mutations linked to GH, and the prevalences were compared with corresponding healthy control populations.
|
12699243 |
2002 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
Iron overload in patients with sideroblastic anaemia is not related to the presence of the haemochromatosis Cys282Tyr and His63Asp mutations.
|
10027719 |
1999 |
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Genetic hemochromatosis (GH) is associated with two mutations of the HFE gene (Cys282Tyr and His63Asp).
|
10705106 |
2000 |
|
beta Thalassemia
|
|
0.040 |
GeneticVariation
|
BEFREE |
beta-thalassemia carriers who are homozygotes for the H63D mutation have higher ferritin levels than beta-thalassemia carriers with the H/H genotype, suggesting that the H63D mutation may have a modulating effect on iron absorption.
|
11869934 |
2002 |
|
beta^+^ Thalassemia
|
|
0.040 |
GeneticVariation
|
BEFREE |
beta-thalassemia carriers who are homozygotes for the H63D mutation have higher ferritin levels than beta-thalassemia carriers with the H/H genotype, suggesting that the H63D mutation may have a modulating effect on iron absorption.
|
11869934 |
2002 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
Iron overload is uncommon in compound heterozygotes and H63D homozygotes.
|
11960576 |
2001 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
|
0.070 |
GeneticVariation
|
BEFREE |
HHC is the most common single gene disorder in northern Europeans that occurs with a frequency of approximately 0.5%, and most of these patients carry the C282Y and H63D mutation in the HFE gene on chromosome 6p21.3.
|
12324192 |
2002 |
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Hereditary haemochromatosis is rarely observed among Indians and so are the C282Y and H63D mutations in the HFE gene.
|
14765621 |
2004 |
|
beta Thalassemia, heterozygous
|
|
0.020 |
GeneticVariation
|
BEFREE |
Heterozygous beta-thalassemia and homozygous H63D hemochromatosis in a child: an 18-year follow-up.
|
15805002 |
2005 |
|
Generalized osteoarthritis
|
|
0.020 |
GeneticVariation
|
BEFREE |
Primary osteoarthritis in the ankle joint is associated with finger metacarpophalangeal osteoarthritis and the H63D mutation in the HFE gene: evidence for a hemochromatosis-like polyarticular osteoarthritis phenotype.
|
16755236 |
2006 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
GeneticVariation
|
BEFREE |
Hemochromatosis and iron overload screening (HEIRS) Study is an ongoing, multiethnic, primary care-based study of 101,168 North American adults, including 12,772 Asians, a group that the HEIRS Study found has a significantly higher than expected prevalence of elevated serum TS and SF but very low prevalence of the common C282Y and H63D HFE alleles usually associated with hereditary hemochromatosis.
|
17240320 |
2007 |
|
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Hemochromatosis and iron overload screening (HEIRS) Study is an ongoing, multiethnic, primary care-based study of 101,168 North American adults, including 12,772 Asians, a group that the HEIRS Study found has a significantly higher than expected prevalence of elevated serum TS and SF but very low prevalence of the common C282Y and H63D HFE alleles usually associated with hereditary hemochromatosis.
|
17240320 |
2007 |
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Hereditary hemochromatosis H63D homozygosity predicts a two- to threefold risk of ICVD and ischemic stroke.
|
17389307 |
2007 |