|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1.
|
18157833 |
2008 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Frequent factor II G20210A mutation in idiopathic portal vein thrombosis.
|
9869612 |
1999 |
|
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 |
IVS3 + 1G --> T in the compound heterozygous state with C282Y results in iron overload that can progress to a severe phenotype of classical hemochromatosis.
|
10348824 |
1999 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
In the Epistasis Project, with 1757 cases of AD and 6295 controls, we studied 4 variants in 2 genes of iron metabolism: hemochromatosis (HFE) C282Y and H63D, and transferrin (TF) C2 and -2G/A.
|
20817350 |
2012 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
We genotyped HFE p.C282Y (rs1800562) and p.H63D (rs1799945) variants in patients with primary varicose veins (n = 463) and in the control group (n = 754).
|
26416403 |
2016 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
Serial serum ferritin measurements in untreated HFE C282Y homozygotes in the Hemochromatosis and Iron Overload Screening Study.
|
18665827 |
2008 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
White blood cells and subtypes in HFE p.C282Y and wild-type homozygotes in the Hemochromatosis and Iron Overload Screening Study.
|
27915113 |
2017 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
Results of this study indicate that many of the symptoms associated with hemochromatosis are common among HFE wild types and that clinical penetrance of the C282Y/C282Y genotype in regard to these symptoms is low.
|
12059121 |
2002 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
The clinical relevance of compound heterozygosity for the C282Y and H63D substitutions in hemochromatosis.
|
16979952 |
2006 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
Hemochromatosis is a common disorder of iron overload most commonly due to homozogosity for the HFE C282Y substitution.
|
23098241 |
2013 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
Effects of highly conserved major histocompatibility complex (MHC) extended haplotypes on iron and low CD8+ T lymphocyte phenotypes in HFE C282Y homozygous hemochromatosis patients from three geographically distant areas.
|
24282517 |
2013 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
Data on HFE-genotype, iron parameters, demographics, lifestyle factors and health, were collected from 224 Dutch C282Y homozygous patients with clinically diagnosed HH and 735 of their first-degree family members (FDFM), all participating in the HEmochromatosis FAmily Study (HEFAS).
|
19008010 |
2009 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
The relationship between iron overload and clinical characteristics in a Spanish cohort of 100 C282Y homozygous hemochromatosis patients.
|
17639389 |
2007 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
A small but significant number of Norwegian male C282Y homozygotes will contract liver cirrhosis if their hemochromatosis is not diagnosed and treated in time.
|
17710673 |
2007 |
|
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
|
|
0.900 |
GeneticVariation
|
BEFREE |
Porphyria cutanea tarda in Brazilian patients: association with hemochromatosis C282Y mutation and hepatitis C virus infection.
|
11151887 |
2000 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
From a literature survey, the calculated hemochromatosis allele frequencies from 16 studies using phenotypic biochemical markers (threshold levels for transferrin saturation [range, 46%-70%] and serum ferritin [range, 164-700 microg/L]) were compared with allele frequencies of the Cys282Tyr mutation of the hemochromatosis gene reported in 19 genotypic studies.
|
12568299 |
2003 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
We compared serum levels of ferritin at diagnosis and other conditions with the rate of iron overload-associated death using data from 2 cohorts of probands with hemochromatosis who were homozygous for HFE C282Y (an Alabama cohort, n = 294, 63.9% men and an Ontario cohort, n = 128, 68.8% men).
|
22265917 |
2012 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
The Hemochromatosis and Iron Overload Screening (HEIRS) Study screened 101,168 primary care participants for iron overload with serum transferrin saturation (TS), ferritin, and C282Y and H63D mutations of the HFE gene.
|
16797244 |
2006 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
We used the LightCycler technology for simultaneous detection of the H63D and C282Y mutations of the HFE gene in patients with a higher prevalence for hemochromatosis.
|
11676983 |
2001 |
|
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 risk of hemochromatosis-related morbidity for HFE simple heterozygosity for either the C282Y or H63D substitutions in the HFE protein was assessed using a prospective community-based cohort study.
|
25311314 |
2015 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
Is there a threshold of hepatic iron concentration that leads to cirrhosis in C282Y hemochromatosis?
|
11232708 |
2001 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
We analyzed initial screening data in 7,343 HEmochromatosis and IRon Overload Screening (HEIRS) Study participants ages 25-29 years, including race/ethnicity and health information; transferrin saturation (TS) and ferritin (SF) measurements; and HFE C282Y and H63D genotypes.
|
17726683 |
2008 |