chr6:26090951:C>G Detail (hg38) (HFE, HFE-AS1)

Information

Genome

Assembly Position
hg19 chr6:26,091,179-26,091,179 View the variant detail on this assembly version.
hg38 chr6:26,090,951-26,090,951

HGVS

Type Transcript Protein
RefSeq NM_139004.2:c.187C>G NP_620573.1:p.His63Asp
NM_139003.2:c.187C>G NP_620572.1:p.His63Asp
NM_139007.2:c.77-363C>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.028
ToMMo:0.030
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.037

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic low penetrance; other
Review star
Show details
Links
Type Database ID Link
Gene MIM 613609 OMIM
HGNC 4886 HGNC
Ensembl ENSG00000010704 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv24613577 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2024-03-26 criteria provided, multiple submitters, no conflicts hemochromatosis type 1 biparental germline unknown Detail
Pathogenic; other 2024-02-06 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic low penetrance 2024-01-31 criteria provided, single submitter Hereditary hemochromatosis germline unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter hemochromatosis type 1,Familial porphyria cutanea tarda,variegate porphyria,Microvascular complications of diabetes, susceptibility to, 7,Transferrin serum level quantitative trait locus 2,Alzheimer disease unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter hemochromatosis type 1,Familial porphyria cutanea tarda,variegate porphyria,Microvascular complications of diabetes, susceptibility to, 7,Transferrin serum level quantitative trait locus 2,Alzheimer disease unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter hemochromatosis type 1,Familial porphyria cutanea tarda,variegate porphyria,Microvascular complications of diabetes, susceptibility to, 7,Transferrin serum level quantitative trait locus 2,Alzheimer disease unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter hemochromatosis type 1,Familial porphyria cutanea tarda,variegate porphyria,Microvascular complications of diabetes, susceptibility to, 7,Transferrin serum level quantitative trait locus 2,Alzheimer disease unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter hemochromatosis type 1,Familial porphyria cutanea tarda,variegate porphyria,Microvascular complications of diabetes, susceptibility to, 7,Transferrin serum level quantitative trait locus 2,Alzheimer disease unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter hemochromatosis type 1,Familial porphyria cutanea tarda,variegate porphyria,Microvascular complications of diabetes, susceptibility to, 7,Transferrin serum level quantitative trait locus 2,Alzheimer disease unknown Detail
no classifications from unflagged records 2022-11-29 no classifications from unflagged records not specified germline Detail
risk factor 2019-04-01 no assertion criteria provided cystic fibrosis germline Detail
not provided no assertion provided Bronze diabetes unknown Detail
Pathogenic 2021-03-25 criteria provided, single submitter cardiomyopathy germline Detail
Pathogenic 2021-12-10 criteria provided, single submitter germline Detail
Pathogenic 2020-01-13 criteria provided, single submitter variegate porphyria germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.458 variegate porphyria Mutation Q127H was detected in exon 3 of the HFE gene together with mutation H63... BeFree 10401000 Detail
<0.001 variegate porphyria Mutation Q127H was detected in exon 3 of the HFE gene together with mutation H63... BeFree 10401000 Detail
<0.001 congestive heart failure Multivariate analysis revealed that the odds of CHF was higher in females [Odds ... BeFree 23927520 Detail
0.132 Hypertensive disease Multivariate analysis revealed that the odds of CHF was higher in females [Odds ... BeFree 23927520 Detail
0.001 Cooley's anemia Spectrum and haplotypes of the HFE hemochromatosis gene in Iran: H63D in beta-th... BeFree 15570296 Detail
0.170 Iron Overload Here we propose a rational diagnostic algorithm for hepatic iron overload syndro... BeFree 19214108 Detail
<0.001 hemochromatosis Our objective was to examine whether functional polymorphisms in hemochromatosis... BeFree 25293352 Detail
<0.001 hemochromatosis Our objective was to examine whether functional polymorphisms in hemochromatosis... BeFree 25293352 Detail
0.360 hemochromatosis Our objective was to examine whether functional polymorphisms in hemochromatosis... BeFree 25293352 Detail
<0.001 hemochromatosis Our objective was to examine whether functional polymorphisms in hemochromatosis... BeFree 25293352 Detail
<0.001 hemochromatosis Our objective was to examine whether functional polymorphisms in hemochromatosis... BeFree 25293352 Detail
0.360 hemochromatosis Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazi... BeFree 11887210 Detail
0.006 anemia From what we observed in our study, C282Y/H63D HFE gene mutations are not relate... BeFree 16138214 Detail
0.205 Hereditary hemochromatosis In conclusion, screening of HFE through direct sequencing, as compared to p.C282... BeFree 20843714 Detail
0.018 diabetes mellitus To evaluate the frequency of mutations in the HFE gene (C282Y and H63D) in type ... BeFree 20097100 Detail
0.205 Hereditary hemochromatosis High frequencies of the C282Y and H63D mutations of the HFE gene occur in Europe... BeFree 12614226 Detail
0.360 hemochromatosis Frequency of the HFE C282Y and H63D mutations in Danish patients with clinical h... BeFree 14703688 Detail
0.360 hemochromatosis An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (... BeFree 18157833 Detail
<0.001 hypogonadism Hereditary hemochromatosis resulting either from homozygosity for the C282Y poly... BeFree 20160468 Detail
0.205 Hereditary hemochromatosis Prevalence of the C282Y and H63D mutations in the HFE gene in patients with here... BeFree 9858243 Detail
0.205 Hereditary hemochromatosis The aim of the study was to assess the frequencies of the hereditary hemochromat... BeFree 15042317 Detail
0.205 Hereditary hemochromatosis We conclude that, in southern Italy, another genetic determinant/s must be respo... BeFree 15061375 Detail
0.205 Hereditary hemochromatosis The discovery of the C282Y and H63D point mutations in the hereditary hemochroma... BeFree 10660482 Detail
0.054 Liver diseases This study assessed liver biopsies containing stainable iron from 103 patients w... BeFree 10925986 Detail
0.360 hemochromatosis Identification of heterozygosity for the HFE gene mutation C282Y/H63D confirmed ... BeFree 17483072 Detail
0.205 Hereditary hemochromatosis The HFE gene and its mutations C282Y and H63D cause hereditary haemochromatosis ... BeFree 10460595 Detail
0.002 hemochromatosis Two siblings in a pedigree without cardiomyopathy were wild-type at the HFE C282... BeFree 10024915 Detail
0.360 hemochromatosis The risk of hemochromatosis-related morbidity for HFE simple heterozygosity for ... BeFree 25311314 Detail
0.002 breast carcinoma HFE H63D mutation frequency shows an increase in Turkish women with breast cance... BeFree 16503999 Detail
0.360 hemochromatosis Two sites of point mutations in the HFE gene, C282Y and H63D, are associated wit... BeFree 16419611 Detail
0.205 Hereditary hemochromatosis To determine the allele frequency in the north Indian population of the two muta... BeFree 15777346 Detail
0.127 Cardiovascular Diseases We investigated HFE C282Y and H63D allele frequencies in three Dutch towns in th... BeFree 23340149 Detail
0.205 Hereditary hemochromatosis The patient was found to carry the HFE C282Y and H63D mutations, which are assoc... BeFree 15514099 Detail
<0.001 neuroblastoma To test our hypothesis that H63D HFE would be associated with less Pin1 activity... BeFree 20060900 Detail
0.205 Hereditary hemochromatosis Sample-to-SNP kit: a reliable, easy and fast tool for the detection of HFE p.H63... BeFree 22735619 Detail
0.001 Beta thalassemia trait The influence of TMPRSS6 on hepatic iron accumulation was more marked in patient... BeFree 23144979 Detail
0.170 Iron Overload H63D mutation in the HFE gene increases iron overload in beta-thalassemia carrie... BeFree 11869934 Detail
0.018 hemochromatosis An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (... BeFree 18157833 Detail
0.005 Impaired glucose tolerance Aims of the study were: (i) to determine the prevalence of mutations C282Y and H... BeFree 12148086 Detail
0.170 Iron Overload The influence of TMPRSS6 on hepatic iron accumulation was more marked in patient... BeFree 23144979 Detail
0.205 Hereditary hemochromatosis We assessed iron intake, mutations in the HFE gene that are associated with here... BeFree 15956653 Detail
0.115 Cerebrovascular accident Factors included: apolipoprotein E (ApoE) gene variants (the E4 allele is the st... BeFree 24081379 Detail
<0.001 Osteoarthritis of distal interphalangeal joint The HFE H63D variant may explain, at least in part, the prevalence of arthralgia... BeFree 17284543 Detail
0.090 liver cirrhosis HFE mutations and chronic hepatitis C: H63D and C282Y heterozygosity are indepen... BeFree 12586300 Detail
0.008 celiac disease Polymerase chain reaction amplification using sequence-specific primers capable ... BeFree 12145797 Detail
0.005 Neurodegenerative Disorders The H63D HFE genetic variant has been repeatedly associated with a number of neu... BeFree 19560233 Detail
0.360 hemochromatosis The aims of this study were: 1) To determine the prevalence of the hemochromatos... BeFree 11686223 Detail
0.005 porphyria cutanea tarda By contrast, the frequencies of the common H63D mutation did not differ, and the... BeFree 17298224 Detail
<0.001 brain infarction In the present work, we have determined the HFE genotypes for C282Y and H63D in ... BeFree 11380589 Detail
0.024 beta thalassemia H63D mutation in the HFE gene increases iron overload in beta-thalassemia carrie... BeFree 11869934 Detail
0.205 Hereditary hemochromatosis We determined the frequency of the HFE polymorphisms, C282Y and H63D, in a rando... BeFree 10493980 Detail
0.007 Hereditary hemochromatosis Using a multi-ethnic sample of cases and controls from Houston, TX, we examined ... BeFree 25085015 Detail
0.205 Hereditary hemochromatosis Although the most prevalent genotype in HH is homozygosity for C282Y mutation of... BeFree 18036208 Detail
<0.001 Central neuroblastoma To test our hypothesis that H63D HFE would be associated with less Pin1 activity... BeFree 20060900 Detail
0.005 Neurodegenerative Disorders H63D HFE polymorphisms increase the risk of neurodegenerative disorders and, spe... BeFree 23813494 Detail
0.050 Diabetes Mellitus, Non-Insulin-Dependent In conclusion, we failed to demonstrate that the C282Y and H63D HFE gene mutatio... BeFree 15222129 Detail
0.050 Diabetes Mellitus, Non-Insulin-Dependent Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of t... BeFree 11423500 Detail
0.205 Hereditary hemochromatosis An improved real time PCR method for simultaneous detection of C282Y and H63D mu... BeFree 11465544 Detail
0.170 Iron Overload Association of HFE mutations (C282Y and H63D) with iron overload in blood donors... BeFree 17297430 Detail
0.360 hemochromatosis The clinical features of HFE-related hemochromatosis were absent, as were the Cy... BeFree 12091367 Detail
0.031 hemochromatosis Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazi... BeFree 11887210 Detail
0.005 Neurodegenerative Disorders The H67D knock-in mouse can be used as a model to evaluate how the H63D HFE muta... BeFree 23429074 Detail
0.360 hemochromatosis Simultaneous detection of HFE C282Y, H63D and S65C mutations associated with typ... BeFree 21736562 Detail
0.170 Iron Overload We analyzed data from the Hemochromatosis and Iron Overload Screening Study to a... BeFree 23512844 Detail
0.014 endometrial carcinoma Patients with EH (n = 89), EH concurrent with ECa (n = 76), ECa (n = 186), and h... BeFree 25741405 Detail
0.360 hemochromatosis The screening of Lithuanian blood donors has detected 13 (1.3%) subjects with a ... BeFree 21947086 Detail
0.360 hemochromatosis First considered as a polymorphism of the HFE gene, the H63D mutation is now wid... BeFree 11358905 Detail
0.170 Iron Overload Major histocompatibility complex class I associations in iron overload: evidence... BeFree 9510559 Detail
0.205 Hereditary hemochromatosis An MHC like gene, HFE, has recently been identified that is mutated in most pati... BeFree 10189855 Detail
0.170 Iron Overload Five patients had no HFE mutations; one of these patients unequivocally has iron... BeFree 9410475 Detail
0.170 Iron Overload A primary care-based cohort of 20,306 participants (Hemochromatosis and Iron Ove... BeFree 22228247 Detail
0.205 Hereditary hemochromatosis Genotypic testing of nonselected patients with the myelodysplastic syndrome (MDS... BeFree 12624489 Detail
0.205 Hereditary hemochromatosis Three allelic variants of HFE gene have been correlated with hereditary hemochro... BeFree 19822954 Detail
0.163 Alzheimer's disease A specific polymorphism in the hemochromatosis (HFE) gene, H63D, is over-represe... BeFree 21349849 Detail
0.003 Non-alcoholic Fatty Liver Disease The aim of this study was to assess whether a panel of genetic variants previous... BeFree 20739079 Detail
0.005 Neurodegenerative Disorders These changes may explain why C282Y-HFE is a risk factor for colon and breast ca... BeFree 21243428 Detail
0.170 Iron Overload Co-inheritance of HFE mutations has a substantial role in iron overload in beta-... BeFree 15182337 Detail
0.170 Iron Overload Sixty patients diagnosed with hereditary hemochromatosis with grade 3 or 4 hepat... BeFree 9851896 Detail
0.205 Hereditary hemochromatosis Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients ... BeFree 9833909 Detail
0.205 Hereditary hemochromatosis In this pilot study, common variants of the apolipoprotein E (APOE) and HFE gene... BeFree 18525129 Detail
0.066 Hepatitis C, Chronic The relationship of H63D HFE gene mutations with chronic hepatitis C and the pos... BeFree 16273299 Detail
0.008 Arthralgia The H63D variant in the HFE gene predisposes to arthralgia, chondrocalcinosis an... BeFree 17284543 Detail
0.205 Hereditary hemochromatosis The C282Y mutation of the HFE gene, held responsible for HH, has been identified... BeFree 12952143 Detail
<0.001 Ischemic stroke We tested the hypothesis that the HFE genotypes H63D/H63D, H63D/wild type, C282Y... BeFree 17389307 Detail
0.205 Hereditary hemochromatosis Recent reports have described a significant association between inheritance of t... BeFree 12699243 Detail
<0.001 Osteoarthritis of the hand The HFE H63D variant may explain, at least in part, the prevalence of arthralgia... BeFree 17284543 Detail
<0.001 Steatohepatitis The HFE gene heterozygosis H63D: a cofactor for liver damage in patients with st... BeFree 17916170 Detail
0.360 hemochromatosis Our study shows that the HFE C282Y and H63D are determinants of iron parameters ... BeFree 12673276 Detail
0.205 Hereditary hemochromatosis Hereditary hemochromatosis is commonly due to two HFE1 (Histone Family E1) gene ... BeFree 17130663 Detail
0.008 Hepatitis B, Chronic Prevalence and clinical implications of HFE gene mutations (C282Y and H63D) in p... BeFree 15780041 Detail
0.360 hemochromatosis Frequency of the hemochromatosis HFE mutations C282Y, H63D, and S65C in blood do... BeFree 15042317 Detail
0.205 Hereditary hemochromatosis A PCR-SSP method for detecting the His63Asp mutation in the HFE gene associated ... BeFree 9893753 Detail
<0.001 Idiopathic osteoarthritis Primary osteoarthritis in the ankle joint is associated with finger metacarpopha... BeFree 16755236 Detail
0.002 Central neuroblastoma In this study, we provide evidence that an Aβ(25-35) fragment, which contains th... BeFree 20734416 Detail
0.066 Hepatitis C, Chronic HFE mutations were seen in 47% of patients with chronic hepatitis C and in 28% o... BeFree 10761457 Detail
0.008 atherosclerosis The finding of a similar prevalence of Cys282Tyr and His63Asp mutations in the H... BeFree 10719381 Detail
0.010 Malignant neoplasm of breast HFE H63D mutation frequency shows an increase in Turkish women with breast cance... BeFree 16503999 Detail
0.360 hemochromatosis Two siblings in a pedigree without cardiomyopathy were wild-type at the HFE C282... BeFree 10024915 Detail
0.138 Parkinson disease The association between the C282Y and H63D polymorphisms of HFE gene and the ris... BeFree 25863172 Detail
<0.001 HEMOCHROMATOSIS, TYPE 3 By contrast, the frequencies of the common H63D mutation did not differ, and the... BeFree 17298224 Detail
0.360 hemochromatosis Clinical relevance of hemochromatosis-related HFE C282Y/H63D gene mutations in p... BeFree 12508966 Detail
0.021 Degenerative polyarthritis The H63D variant in the HFE gene predisposes to arthralgia, chondrocalcinosis an... BeFree 17284543 Detail
0.205 Hereditary hemochromatosis The HFE p.C282Y in homozygosity or in heterozygosity with p.H63D was the most fr... BeFree 21411349 Detail
0.005 Neurodegenerative Disorders A specific polymorphism in the hemochromatosis (HFE) gene, H63D, is over-represe... BeFree 21349849 Detail
0.003 Nonalcoholic Steatohepatitis Single-nucleotide polymorphism genotyping for C282Y (rs1800562) and H63D (rs1799... BeFree 22611049 Detail
0.011 coronary artery disease No relationship between HFE mutations and CAD (C282Y, P = 0.402; H63D, P = 0.112... BeFree 18810584 Detail
0.004 Hereditary hemochromatosis An MHC like gene, HFE, has recently been identified that is mutated in most pati... BeFree 10189855 Detail
0.170 Iron Overload Our results suggest that H63D variant in HFE gene seems to be associated with GC... BeFree 23389292 Detail
0.161 hepatitis C Mutation of the hemochromatosis gene (C282Y and/or H63D) was diagnosed in 16 (55... BeFree 17160239 Detail
0.001 Beta thalassemia trait Prevalence of the H63D mutation of the HFE in north India: its presence does not... BeFree 15777346 Detail
0.003 hemochromatosis Factors included: apolipoprotein E (ApoE) gene variants (the E4 allele is the st... BeFree 24081379 Detail
<0.001 Hereditary hemochromatosis We assessed iron intake, mutations in the HFE gene that are associated with here... BeFree 15956653 Detail
0.096 Alcoholic Liver Diseases C282Y and H63D mutations of HFE gene in patients with advanced alcoholic liver d... BeFree 11469076 Detail
0.205 Hereditary hemochromatosis In conclusion, a new association of the HFE H63D mutation with forms of hemochro... BeFree 9510559 Detail
0.170 Iron Overload Our results show that the C282Y and H63D mutations of the HFE gene associated wi... BeFree 12678056 Detail
0.044 liver carcinoma Association between C282Y and H63D mutations of the HFE gene with hepatocellular... BeFree 20196837 Detail
0.132 Hypertensive disease Genetic variants in novel pathways influence blood pressure and cardiovascular d... GWASCAT 21909115 Detail
0.050 Diabetes Mellitus, Non-Insulin-Dependent Mutation H63D in the HFE gene confers risk for the development of type 2 diabete... BeFree 20097100 Detail
0.170 Iron Overload Naïve haemochromatosis patients with iron overload and with C282Y and/or H63D HF... BeFree 23728724 Detail
0.360 hemochromatosis HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related... BeFree 19554541 Detail
0.170 Iron Overload Prevalence of the H63D mutation of the HFE in north India: its presence does not... BeFree 15777346 Detail
0.011 schizophrenia The aim of this study was to investigate the possible influence of hemochromatos... BeFree 21643746 Detail
0.205 Hereditary hemochromatosis HFE codon 63/282 (H63D/C282Y) dimorphism in German patients with genetic hemochr... BeFree 9550327 Detail
0.170 Iron Overload To describe the clinical expression of iron overload (IO) associated with H63D h... BeFree 11358905 Detail
<0.001 Carotid Atherosclerosis We tested the hypothesis that the HFE genotypes H63D/H63D, H63D/wild type, C282Y... BeFree 17389307 Detail
<0.001 Iron Overload In this pilot study, common variants of the apolipoprotein E (APOE) and HFE gene... BeFree 18525129 Detail
0.001 Beta thalassemia trait Heterozygosity for the C282Y (OR 1.87, 95% CI 1.04-3.25), homozygosity for the H... BeFree 20739079 Detail
0.360 hemochromatosis HFE C282Y homozygotes and compound heterozygotes (C282Y/H63D) are at risk of dev... BeFree 24054178 Detail
0.360 hemochromatosis Our results suggested that neither C282Y nor H63D in HFE affect Japanese patient... BeFree 11579943 Detail
0.205 Hereditary hemochromatosis Sixty patients diagnosed with hereditary hemochromatosis with grade 3 or 4 hepat... BeFree 9851896 Detail
0.170 Iron Overload Frequency of primary iron overload and HFE gene mutations (C282Y, H63D and S65C)... BeFree 17589946 Detail
0.005 Kidney Failure, Chronic We analyzed the frequency of the C282Y and H63D mutations in the HFE gene in 201... BeFree 16138214 Detail
0.205 Hereditary hemochromatosis HFE gene mutations C282Y and H63D are responsible for the majority of HH cases. BeFree 15538648 Detail
0.205 Hereditary hemochromatosis Iron-overload and genotypic expression of HFE mutations H63D/C282Y and transferr... BeFree 10940080 Detail
0.170 Iron Overload The discovery of the C282Y and H63D point mutations in the hereditary hemochroma... BeFree 10660482 Detail
0.205 Hereditary hemochromatosis Hereditary hemochromatosis (HH) is an autosomal recessive disorder mainly associ... BeFree 20196837 Detail
0.360 hemochromatosis We then examined transferrin and ferritin concentrations relative to these centi... BeFree 11568090 Detail
0.240 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 (finding) NA CLINVAR Detail
0.360 hemochromatosis To test whether genetic haemochromatosis is associated with myocardial infarctio... BeFree 11886425 Detail
0.003 Migraine Disorders However, the H63D polymorphism of the HFE gene may be considered a modifying gen... BeFree 17212677 Detail
0.001 Beta thalassemia trait The frequent occurrence of beta-thalassemia trait and HFE-H63D in non-Ashkenazi ... BeFree 20084012 Detail
0.003 Hematological Disease Prevalence of HFE genotypes, C282Y and H63D, in patients with hematologic disord... BeFree 11836162 Detail
0.205 Hereditary hemochromatosis Two amino acid variants in the HFE gene, C282Y and H63D, have been reported in m... BeFree 10660483 Detail
0.066 Hepatitis C, Chronic HFE mutations and chronic hepatitis C: H63D and C282Y heterozygosity are indepen... BeFree 12586300 Detail
<0.001 Generalized osteoarthritis Primary osteoarthritis in the ankle joint is associated with finger metacarpopha... BeFree 16755236 Detail
0.024 beta thalassemia Co-inheritance of HFE mutations has a substantial role in iron overload in beta-... BeFree 15182337 Detail
0.360 hemochromatosis Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[C... BeFree 26365338 Detail
0.205 Hereditary hemochromatosis Hereditary hemochromatosis has been linked with C282Y and H63D mutations of the ... BeFree 20424537 Detail
0.562 HEMOCHROMATOSIS, TYPE 3 By contrast, the frequencies of the common H63D mutation did not differ, and the... BeFree 17298224 Detail
0.002 neuroblastoma In this study, we provide evidence that an Aβ(25-35) fragment, which contains th... BeFree 20734416 Detail
0.007 Hereditary hemochromatosis The wild-type HH (HFE) protein complexes with the transferrin receptor (TFR), an... BeFree 11096344 Detail
0.205 Hereditary hemochromatosis To investigate the prevalence in the Michigan non-Hispanic Caucasian population ... BeFree 16113534 Detail
0.360 hemochromatosis The aim of this study was to find out whether C282Y and H63D mutations in the he... BeFree 17067586 Detail
0.002 breast carcinoma These changes may explain why C282Y-HFE is a risk factor for colon and breast ca... BeFree 21243428 Detail
0.438 amyotrophic lateral sclerosis H63D HFE polymorphisms are associated with increased disease duration and decrea... BeFree 23813494 Detail
0.205 Hereditary hemochromatosis HFE mutations of C282Y and H63D are largely responsible for HH in populations of... BeFree 14571105 Detail
0.360 hemochromatosis Noniatrogenic haemochromatosis in congenital dyserythropoietic anaemia type II i... BeFree 12152243 Detail
0.170 Iron Overload The present study confirms the presence of iron overload in alcoholics, which wa... BeFree 19115475 Detail
0.360 hemochromatosis Haemochromatosis HFE gene polymorphisms (p.H63D and p.C282Y) have shown signific... BeFree 22048270 Detail
0.170 Iron Overload To detect two novel mutations (C282Y and H63D) of the HFE gene in Chinese patien... BeFree 10895137 Detail
0.205 Hereditary hemochromatosis The recent identification of 2 mutations in the HFE gene related to hereditary h... BeFree 10692680 Detail
<0.001 Leukemia, Lymphocytic, Acute, L1 Using a multi-ethnic sample of cases and controls from Houston, TX, we examined ... BeFree 25085015 Detail
0.360 hemochromatosis Genotyping of the hemochromatosis HFE p.H63D and p.C282Y mutations by high-resol... BeFree 21679129 Detail
<0.001 endometrial hyperplasia Patients with EH (n = 89), EH concurrent with ECa (n = 76), ECa (n = 186), and h... BeFree 25741405 Detail
0.205 Hereditary hemochromatosis Additionally, we sequenced the HFE gene of H63D homozygotes with HH. BeFree 11358905 Detail
<0.001 Leukemia, Lymphocytic, Acute, L1 The other HFE mutation H63D does not confer increased risk to childhood ALL. BeFree 12002748 Detail
<0.001 Beta thalassemia trait The influence of TMPRSS6 on hepatic iron accumulation was more marked in patient... BeFree 23144979 Detail
0.205 Hereditary hemochromatosis C282Y and H63D mutations in the hemochromatosis (HFE) gene are associated with i... BeFree 14618419 Detail
0.050 Diabetes Mellitus, Non-Insulin-Dependent Lack of association of C282Y and H63D mutations in the hemochromatosis (HFE) gen... BeFree 19876870 Detail
0.003 alpha-Thalassemia The aim of this study was to evaluate the prevalence of the H63D, S65C and C282Y... BeFree 17160266 Detail
0.170 Iron Overload Iron-overload and genotypic expression of HFE mutations H63D/C282Y and transferr... BeFree 10940080 Detail
0.170 Iron Overload This study compared hepcidin and non-transferrin bound iron (NTBI) levels in unt... BeFree 25277871 Detail
0.170 Iron Overload Using amplification refractory mutation system polymerase chain reaction, an ana... BeFree 11068087 Detail
0.205 Hereditary hemochromatosis Hereditary haemochromatosis has been linked with C282Y and H63D mutations of the... BeFree 18263976 Detail
0.170 Iron Overload No documented iron overload was observed for HFE simple heterozygotes for either... BeFree 25311314 Detail
0.004 Fibrosis, Liver However, glucose intolerance may be important risk factor for the development of... BeFree 16584391 Detail
<0.001 Hereditary hemochromatosis In this pilot study, common variants of the apolipoprotein E (APOE) and HFE gene... BeFree 18525129 Detail
0.066 Hepatitis C, Chronic Our results suggested that neither C282Y nor H63D in HFE affect Japanese patient... BeFree 11579943 Detail
0.360 hemochromatosis The H63D HFE variant appears less frequently associated with hemochromatosis, bu... BeFree 21346098 Detail
<0.001 Thalassemia Intermedia HFE mutation H63D predicts risk of iron over load in thalassemia intermedia irre... BeFree 17474269 Detail
0.163 Alzheimer's disease Previous studies in cell models have shown the H63D HFE variant to result in inc... BeFree 20060900 Detail
0.170 Iron Overload The frequent occurrence of beta-thalassemia trait and HFE-H63D in non-Ashkenazi ... BeFree 20084012 Detail
0.360 hemochromatosis Primary osteoarthritis in the ankle joint is associated with finger metacarpopha... BeFree 16755236 Detail
0.205 Hereditary hemochromatosis The description of two mutations in the HFE gene (Cys282Tyr and His63Asp) relate... BeFree 10719381 Detail
0.170 Iron Overload The Hemochromatosis and Iron Overload Screening (HEIRS) Study screened 101,168 p... BeFree 16797244 Detail
0.360 hemochromatosis She was heterozygous for the common H63D mutation of the hemochromatosis-associa... BeFree 17919354 Detail
0.004 neuroblastoma To test our hypothesis that H63D HFE would be associated with less Pin1 activity... BeFree 20060900 Detail
0.205 Hereditary hemochromatosis Aims of the study were: (i) to determine the prevalence of mutations C282Y and H... BeFree 12148086 Detail
0.170 Iron Overload Hemochromatosis gene (HFE) mutations namely C282Y and H63D may cause hepatic iro... BeFree 23845776 Detail
0.205 Hereditary hemochromatosis Analysis of HFE-codon 63/282 (H63D/C282Y) gene variants in mexican mestizos. Blo... BeFree 11068087 Detail
0.163 Alzheimer's disease It has been reported that persons carrying the H63D variant in their hemochromat... BeFree 26170247 Detail
0.008 Cerebrovascular accident Factors included: apolipoprotein E (ApoE) gene variants (the E4 allele is the st... BeFree 24081379 Detail
0.170 Iron Overload C282Y and H63D mutations in the HFE gene have no effect on iron overload disorde... BeFree 11579943 Detail
0.170 Iron Overload Three allelic variants of HFE gene have been correlated with hereditary hemochro... BeFree 19822954 Detail
0.360 hemochromatosis Major histocompatibility complex class I associations in iron overload: evidence... BeFree 9510559 Detail
0.170 Iron Overload Three polymorphic gene mutations in the human hemochromatosis (HFE) gene (C282Y,... BeFree 14635204 Detail
0.050 Diabetes Mellitus, Non-Insulin-Dependent Relations among serum ferritin, C282Y and H63D mutations in the HFE gene and typ... BeFree 12148086 Detail
0.205 Hereditary hemochromatosis We used the eMERGE Network, a multicenter cohort with genotype data linked to el... BeFree 26365338 Detail
0.017 amyotrophic lateral sclerosis The H63D polymorphism in the hemochromatosis (HFE) gene has been reported as a r... BeFree 20642794 Detail
0.205 Hereditary hemochromatosis HFE gene mutations (C282Y and H63D) linked to hereditary hemochromatosis were an... BeFree 20974500 Detail
0.360 hemochromatosis The recipient did not carry either the C282Y or the H63D mutation of the HFE gen... BeFree 18925311 Detail
<0.001 Carcinoma of male breast In conclusion, our results indicate a minor role for the HFE mutations C282Y and... BeFree 16003728 Detail
0.360 hemochromatosis Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of t... BeFree 11423500 Detail
0.205 Hereditary hemochromatosis Two popular mutations in HFE, p.C282Y and p.H63D, have been discovered and found... BeFree 16672055 Detail
0.205 Hereditary hemochromatosis Five patients had no HFE mutations; one of these patients unequivocally has iron... BeFree 9410475 Detail
0.002 Blood pressure finding [Genetic variants in novel pathways influence blood pressure and cardiovascular ... GAD 21909115 Detail
0.017 amyotrophic lateral sclerosis The association between H63D mutations in HFE and amyotrophic lateral sclerosis ... BeFree 17210810 Detail
0.205 Hereditary hemochromatosis Common HFE mutations (C282Y and H63D) are related to the majority of hereditary ... BeFree 12490283 Detail
0.044 liver carcinoma Our aim was to estimate the frequency of hemochromatosis gene (HFE) mutant allel... BeFree 21925577 Detail
0.004 Fibrosis, Liver HFE mutations and chronic hepatitis C: H63D and C282Y heterozygosity are indepen... BeFree 12586300 Detail
0.205 Hereditary hemochromatosis NTNFETs with immobilized synthetic oligonucleotides have been shown to specifica... BeFree 16418278 Detail
0.016 myocardial infarction This study aims to determine whether the two major mutations of the haemochromat... BeFree 12923017 Detail
0.002 Central neuroblastoma To test our hypothesis that H63D HFE would be associated with less Pin1 activity... BeFree 20060900 Detail
0.170 Iron Overload In this pilot study, common variants of the apolipoprotein E (APOE) and HFE gene... BeFree 18525129 Detail
0.205 Hereditary hemochromatosis The wild-type HH (HFE) protein complexes with the transferrin receptor (TFR), an... BeFree 11096344 Detail
0.360 hemochromatosis Higher brain iron levels are associated with male gender and presence of highly ... BeFree 21389980 Detail
<0.001 essential hypertension In conclusion, HFE genetic variant H63D was associated with essential hypertensi... BeFree 25634189 Detail
0.007 siderosis Heterozygosity for the C282Y (OR 1.87, 95% CI 1.04-3.25), homozygosity for the H... BeFree 20739079 Detail
0.170 Iron Overload The presence of mutation in the hemochromatosis gene (C282Y and H63D) was tested... BeFree 17160239 Detail
0.360 hemochromatosis We used the LightCycler technology for simultaneous detection of the H63D and C2... BeFree 11676983 Detail
0.360 hemochromatosis Biochemical testing returned high levels of iron and percentage transferrin satu... BeFree 11601557 Detail
0.170 hemochromatosis Among 549 patients we found 10 to have the phenotype of hemochromatosis and 3 ou... BeFree 21495455 Detail
0.360 hemochromatosis Among 549 patients we found 10 to have the phenotype of hemochromatosis and 3 ou... BeFree 21495455 Detail
0.003 Cardiomyopathies Two siblings in a pedigree without cardiomyopathy were wild-type at the HFE C282... BeFree 10024915 Detail
<0.001 Amyotrophic Lateral Sclerosis, Sporadic H63D polymorphism in the hemochromatosis gene is associated with sporadic amyotr... BeFree 20642794 Detail
0.360 hemochromatosis To assess the frequency of 2 different forms of hemochromatosis HFE gene mutatio... BeFree 18521456 Detail
0.021 Degenerative polyarthritis Primary osteoarthritis in the ankle joint is associated with finger metacarpopha... BeFree 16755236 Detail
0.161 hepatitis C Porphyria cutanea tarda, C282Y, H63D and S65C HFE gene mutations and hepatitis C... BeFree 12673077 Detail
0.205 Hereditary hemochromatosis Two mutations (C282Y and H63D) in the novel major histocompatibility complex (MH... BeFree 9520858 Detail
0.360 hemochromatosis To determine the prevalence of the haemochromatosis associated HFE mutations C28... BeFree 9462220 Detail
0.066 Hepatitis C, Chronic The H63D genetic variant of the HFE gene is independently associated with the vi... BeFree 20555268 Detail
0.205 Hereditary hemochromatosis Hereditary Haemochromatosis is caused by disruption of iron homeostasis due to m... BeFree 18054440 Detail
<0.001 Chronic Kidney Insufficiency We analyzed the frequency of the C282Y and H63D mutations in the HFE gene in 201... BeFree 16138214 Detail
0.010 Malignant neoplasm of breast These changes may explain why C282Y-HFE is a risk factor for colon and breast ca... BeFree 21243428 Detail
0.360 hemochromatosis Liver is the primary target organ of Hereditary Hemochromatosis Type I, with the... BeFree 17428702 Detail
0.170 Iron Overload The Hemochromatosis and Iron Overload Screening Study screened 101,168 primary c... BeFree 17976429 Detail
0.014 Cirrhosis The possibility of cirrhosis-associated hemosiderosis secondary to an iron metab... BeFree 11473464 Detail
0.205 Hereditary hemochromatosis Genetic hemochromatosis (GH) is associated with two mutations of the HFE gene (C... BeFree 10705106 Detail
0.205 Hereditary hemochromatosis HFE is a gene with the polymorphisms C282Y and H63D, which are associated with a... BeFree 18273820 Detail
0.090 liver cirrhosis The possibility of cirrhosis-associated hemosiderosis secondary to an iron metab... BeFree 11473464 Detail
0.301 porphyria cutanea tarda High prevalence of the His63Asp HFE mutation in Italian patients with porphyria ... BeFree 9425935 Detail
0.205 Hereditary hemochromatosis A one-step, bioelectronic detection assay was developed to genotype patient samp... BeFree 11172496 Detail
<0.001 Hypertension, Portal We describe here a kindred in which the propositus, being heterozygote for beta-... BeFree 11421105 Detail
0.170 Iron Overload Liver iron overload on initial biopsy according to modified Deugnier's score and... BeFree 18061182 Detail
0.011 arthropathy At multivariate analysis MCP arthropathy was independently associated with older... BeFree 18061976 Detail
0.002 neuroblastoma To test our hypothesis that H63D HFE would be associated with less Pin1 activity... BeFree 20060900 Detail
<0.001 Malignant neoplasm of male breast In conclusion, our results indicate a minor role for the HFE mutations C282Y and... BeFree 16003728 Detail
0.002 Systemic arterial pressure [Genetic variants in novel pathways influence blood pressure and cardiovascular ... GAD 21909115 Detail
0.054 Liver diseases Mutation of the hemochromatosis gene (C282Y and/or H63D) was diagnosed in 16 (55... BeFree 17160239 Detail
0.127 Cardiovascular Diseases We examined cardiovascular disease risk factors and iron and liver biomarkers, a... BeFree 18593631 Detail
0.205 Hereditary hemochromatosis Liver is the primary target organ of Hereditary Hemochromatosis Type I, with the... BeFree 17428702 Detail
<0.001 Central neuroblastoma To test our hypothesis that H63D HFE would be associated with less Pin1 activity... BeFree 20060900 Detail
0.003 hemosiderosis The possibility of cirrhosis-associated hemosiderosis secondary to an iron metab... BeFree 11473464 Detail
0.014 Cirrhosis HFE mutations and chronic hepatitis C: H63D and C282Y heterozygosity are indepen... BeFree 12586300 Detail
0.003 Diabetic Nephropathy Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of t... BeFree 11423500 Detail
0.360 hemochromatosis Five SNPs in 4 genes were assessed: hemochromatosis (HFE: C282Y, H63D), ferropor... BeFree 22883388 Detail
<0.001 Leukemia, Lymphocytic, Acute, L1 Using a multi-ethnic sample of cases and controls from Houston, TX, we examined ... BeFree 25085015 Detail
0.205 Hereditary hemochromatosis In addition, we find that the HH-associated mutant H41D has lost the ability to ... BeFree 12429850 Detail
0.170 Iron Overload The HEIRS Study screened 101,168 primary care participants for iron overload wit... BeFree 18073584 Detail
0.003 Diabetes One of the 220 patients (0.45%) with diabetes was homozygous for the HFE 845A (C... BeFree 10695662 Detail
0.170 Iron Overload The analysis of HFE gene mutations (C282Y and H63D) is a simple and strong tool ... BeFree 9658731 Detail
0.360 hemochromatosis We analyzed data from the Hemochromatosis and Iron Overload Screening Study to a... BeFree 23512844 Detail
0.017 amyotrophic lateral sclerosis H63D HFE genotype accelerates disease progression in animal models of amyotrophi... BeFree 25283820 Detail
0.127 Cardiovascular Diseases No relationship between HFE mutations and CAD (C282Y, P = 0.402; H63D, P = 0.112... BeFree 18810584 Detail
0.170 Iron Overload The occurrence of the C282Y and H63D mutations of the HFE gene, responsible for ... BeFree 14671616 Detail
0.007 Hereditary hemochromatosis In addition, we find that the HH-associated mutant H41D has lost the ability to ... BeFree 12429850 Detail
0.017 amyotrophic lateral sclerosis H63D HFE polymorphisms are associated with increased disease duration and decrea... BeFree 23813494 Detail
0.360 hemochromatosis Two frequent mutations in the HFE gene, H63D and C282Y, are associated with hemo... BeFree 20669231 Detail
<0.001 Ischemic Cerebrovascular Accident We tested the hypothesis that the HFE genotypes H63D/H63D, H63D/wild type, C282Y... BeFree 17389307 Detail
0.170 Iron Overload The description of two mutations in the HFE gene (Cys282Tyr and His63Asp) relate... BeFree 10719381 Detail
0.011 coronary artery disease In conclusion, we failed to demonstrate that the C282Y and H63D HFE gene mutatio... BeFree 15222129 Detail
<0.001 Beta thalassemia minor Heterozygosity for the H63D mutation in the hereditary hemochromatosis (HFE) gen... BeFree 11421105 Detail
0.054 Liver diseases Our results show that the C282Y and H63D mutations of the HFE gene associated wi... BeFree 12678056 Detail
0.360 hemochromatosis Mutations in the hemochromatosis gene (HFE) (C282Y and H63D) lead to parenchymal... BeFree 19931264 Detail
0.001 adrenoleukodystrophy To study the role of hemochromatosis gene mutations on the pathogenesis of alcoh... BeFree 10235273 Detail
<0.001 Leukemia, Lymphocytic, Acute, L1 Using a multi-ethnic sample of cases and controls from Houston, TX, we examined ... BeFree 25085015 Detail
0.360 hemochromatosis In conclusion, clinical suspicion of hemochromatosis and elevated serum iron par... BeFree 19214108 Detail
0.017 amyotrophic lateral sclerosis A specific polymorphism in the hemochromatosis (HFE) gene, H63D, is over-represe... BeFree 21349849 Detail
0.205 Hereditary hemochromatosis To determine the contribution of the C282Y and H63D mutations in the HFE gene to... BeFree 11399207 Detail
0.205 Hereditary hemochromatosis Hereditary haemochromatosis is rarely observed among Indians and so are the C282... BeFree 14765621 Detail
0.066 Hepatitis C, Chronic The H63D mutation of the hemochromatosis gene is associated with sustained virol... BeFree 22499121 Detail
0.003 Hemoglobinopathies The aim of this study was to evaluate the prevalence of the H63D, S65C and C282Y... BeFree 17160266 Detail
0.001 End Stage Liver Disease Individuals heterozygous for either the C282Y or H63D mutation of the HFE gene a... BeFree 11495086 Detail
0.205 Hereditary hemochromatosis Two mutations in the HFE gene have been implicated in HH: 80 to 90% of the patie... BeFree 11205685 Detail
0.007 Hereditary hemochromatosis Iron-overload and genotypic expression of HFE mutations H63D/C282Y and transferr... BeFree 10940080 Detail
<0.001 Cardiomyopathy, Familial Idiopathic Hereditary hemochromatosis gene (HFE) mutations C282Y, H63D and S65C in patients... BeFree 15642540 Detail
0.001 Cooley's anemia Distribution of C282Y and H63D mutations in the HFE gene in healthy Asian Indian... BeFree 14765621 Detail
0.132 Hypertensive disease [Genetic variants in novel pathways influence blood pressure and cardiovascular ... GAD 21909115 Detail
0.161 hepatitis C The recent identification of 2 mutations in the HFE gene related to hereditary h... BeFree 10692680 Detail
0.205 Hereditary hemochromatosis Most people with HH are C282Y homozygotes, a small proportion are compound heter... BeFree 9727731 Detail
0.001 Sporadic porphyria cutanea tarda We have investigated the relationship between age of onset of skin lesions and m... BeFree 11069625 Detail
0.001 arteriosclerosis The finding of a similar prevalence of Cys282Tyr and His63Asp mutations in the H... BeFree 10719381 Detail
0.003 Myocardial Ischemia This study aims to determine whether the two major mutations of the haemochromat... BeFree 12923017 Detail
0.011 arthropathy To test the hypothesis that possession of either C282Y or H63D mutations in the ... BeFree 16583477 Detail
0.018 diabetes mellitus One of the 220 patients (0.45%) with diabetes was homozygous for the HFE 845A (C... BeFree 10695662 Detail
0.360 hemochromatosis Although the higher allele frequency of the H63D mutation in Turkish HH patients... BeFree 15871018 Detail
0.170 Iron Overload Heterozygosity for the H63D mutation in the hereditary hemochromatosis (HFE) gen... BeFree 11421105 Detail
<0.001 Hyperlipidemia We determined the age; sex; presence of IRS (1 or more of the following: body ma... BeFree 10535879 Detail
0.013 thalassemia We determined the prevalence of the H63D and the IVS5#1G-A HFE mutations in 370 ... BeFree 17637512 Detail
0.003 Anemia, Sickle Cell We assessed the frequency of the G71D mutation of the HAMP gene and the H63D mut... BeFree 25117103 Detail
0.170 Iron Overload Thus, The HAMP-G71D and HFE-H63D variants are not uncommon among the Egyptian SC... BeFree 25117103 Detail
<0.001 Anemia, Sickle Cell We assessed the frequency of the G71D mutation of the HAMP gene and the H63D mut... BeFree 25117103 Detail
0.170 Iron Overload Thus, The HAMP-G71D and HFE-H63D variants are not uncommon among the Egyptian SC... BeFree 25117103 Detail
<0.001 Acute lymphocytic leukemia We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (... BeFree 15863206 Detail
0.009 Precursor Cell Lymphoblastic Leukemia Lymphoma We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (... BeFree 15863206 Detail
<0.001 Leukemia, Myelocytic, Acute We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (... BeFree 15863206 Detail
<0.001 Precursor Cell Lymphoblastic Leukemia Lymphoma We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (... BeFree 15863206 Detail
0.001 Leukemia, Myelocytic, Acute We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (... BeFree 15863206 Detail
<0.001 Acute lymphocytic leukemia We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (... BeFree 15863206 Detail
0.205 Hereditary hemochromatosis NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000410.4(HFE):c.187C>G (p.His63Asp) AND Hemochromatosis type 1 ClinVar Detail
NM_000410.4(HFE):c.187C>G (p.His63Asp) AND not provided ClinVar Detail
NM_000410.4(HFE):c.187C>G (p.His63Asp) AND Hereditary hemochromatosis ClinVar Detail
NM_000410.4(HFE):c.187C>G (p.His63Asp) AND multiple conditions ClinVar Detail
NM_000410.4(HFE):c.187C>G (p.His63Asp) AND multiple conditions ClinVar Detail
NM_000410.4(HFE):c.187C>G (p.His63Asp) AND multiple conditions ClinVar Detail
NM_000410.4(HFE):c.187C>G (p.His63Asp) AND multiple conditions ClinVar Detail
NM_000410.4(HFE):c.187C>G (p.His63Asp) AND multiple conditions ClinVar Detail
NM_000410.4(HFE):c.187C>G (p.His63Asp) AND multiple conditions ClinVar Detail
NM_000410.4(HFE):c.187C>G (p.His63Asp) AND not specified ClinVar Detail
NM_000410.4(HFE):c.187C>G (p.His63Asp) AND Cystic fibrosis ClinVar Detail
NM_000410.4(HFE):c.187C>G (p.His63Asp) AND Bronze diabetes ClinVar Detail
NM_000410.4(HFE):c.187C>G (p.His63Asp) AND Cardiomyopathy ClinVar Detail
NM_000410.4(HFE):c.187C>G (p.His63Asp) AND Abnormality of iron homeostasis ClinVar Detail
NM_000410.4(HFE):c.187C>G (p.His63Asp) AND Variegate porphyria ClinVar Detail
Mutation Q127H was detected in exon 3 of the HFE gene together with mutation H63D in an apparently s... DisGeNET Detail
Mutation Q127H was detected in exon 3 of the HFE gene together with mutation H63D in an apparently s... DisGeNET Detail
Multivariate analysis revealed that the odds of CHF was higher in females [Odds Ratio (OR) = 2·9, P ... DisGeNET Detail
Multivariate analysis revealed that the odds of CHF was higher in females [Odds Ratio (OR) = 2·9, P ... DisGeNET Detail
Spectrum and haplotypes of the HFE hemochromatosis gene in Iran: H63D in beta-thalassemia major and ... DisGeNET Detail
Here we propose a rational diagnostic algorithm for hepatic iron overload syndromes and illustrate p... DisGeNET Detail
Our objective was to examine whether functional polymorphisms in hemochromatosis (HFE; H63D and C282... DisGeNET Detail
Our objective was to examine whether functional polymorphisms in hemochromatosis (HFE; H63D and C282... DisGeNET Detail
Our objective was to examine whether functional polymorphisms in hemochromatosis (HFE; H63D and C282... DisGeNET Detail
Our objective was to examine whether functional polymorphisms in hemochromatosis (HFE; H63D and C282... DisGeNET Detail
Our objective was to examine whether functional polymorphisms in hemochromatosis (HFE; H63D and C282... DisGeNET Detail
Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with h... DisGeNET Detail
From what we observed in our study, C282Y/H63D HFE gene mutations are not related to degrees of anem... DisGeNET Detail
In conclusion, screening of HFE through direct sequencing, as compared to p.C282Y/p.H63D genotyping,... DisGeNET Detail
To evaluate the frequency of mutations in the HFE gene (C282Y and H63D) in type 2 diabetes mellitus ... DisGeNET Detail
High frequencies of the C282Y and H63D mutations of the HFE gene occur in European populations, even... DisGeNET Detail
Frequency of the HFE C282Y and H63D mutations in Danish patients with clinical haemochromatosis init... DisGeNET Detail
An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp... DisGeNET Detail
Hereditary hemochromatosis resulting either from homozygosity for the C282Y polymorphism of the HFE ... DisGeNET Detail
Prevalence of the C282Y and H63D mutations in the HFE gene in patients with hereditary haemochromato... DisGeNET Detail
The aim of the study was to assess the frequencies of the hereditary hemochromatosis HFE mutations C... DisGeNET Detail
We conclude that, in southern Italy, another genetic determinant/s must be responsible for many haem... DisGeNET Detail
The discovery of the C282Y and H63D point mutations in the hereditary hemochromatosis-associated HFE... DisGeNET Detail
This study assessed liver biopsies containing stainable iron from 103 patients with various liver di... DisGeNET Detail
Identification of heterozygosity for the HFE gene mutation C282Y/H63D confirmed the diagnosis of hem... DisGeNET Detail
The HFE gene and its mutations C282Y and H63D cause hereditary haemochromatosis (HH). DisGeNET Detail
Two siblings in a pedigree without cardiomyopathy were wild-type at the HFE C282Y locus; although th... DisGeNET Detail
The risk of hemochromatosis-related morbidity for HFE simple heterozygosity for either the C282Y or ... DisGeNET Detail
HFE H63D mutation frequency shows an increase in Turkish women with breast cancer. DisGeNET Detail
Two sites of point mutations in the HFE gene, C282Y and H63D, are associated with more than 80% of h... DisGeNET Detail
To determine the allele frequency in the north Indian population of the two mutations in the HFE gen... DisGeNET Detail
We investigated HFE C282Y and H63D allele frequencies in three Dutch towns in the Netherlands, as we... DisGeNET Detail
The patient was found to carry the HFE C282Y and H63D mutations, which are associated with hereditar... DisGeNET Detail
To test our hypothesis that H63D HFE would be associated with less Pin1 activity, we utilized stably... DisGeNET Detail
Sample-to-SNP kit: a reliable, easy and fast tool for the detection of HFE p.H63D and p.C282Y variat... DisGeNET Detail
The influence of TMPRSS6 on hepatic iron accumulation was more marked in patients negative for HFE g... DisGeNET Detail
H63D mutation in the HFE gene increases iron overload in beta-thalassemia carriers. DisGeNET Detail
An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp... DisGeNET Detail
Aims of the study were: (i) to determine the prevalence of mutations C282Y and H63D in the HFE gene ... DisGeNET Detail
The influence of TMPRSS6 on hepatic iron accumulation was more marked in patients negative for HFE g... DisGeNET Detail
We assessed iron intake, mutations in the HFE gene that are associated with hereditary hemochromatos... DisGeNET Detail
Factors included: apolipoprotein E (ApoE) gene variants (the E4 allele is the strongest confirmed ge... DisGeNET Detail
The HFE H63D variant may explain, at least in part, the prevalence of arthralgia in multiple joints ... DisGeNET Detail
HFE mutations and chronic hepatitis C: H63D and C282Y heterozygosity are independent risk factors fo... DisGeNET Detail
Polymerase chain reaction amplification using sequence-specific primers capable of identifying the 2... DisGeNET Detail
The H63D HFE genetic variant has been repeatedly associated with a number of neurodegenerative disea... DisGeNET Detail
The aims of this study were: 1) To determine the prevalence of the hemochromatosis associated mutati... DisGeNET Detail
By contrast, the frequencies of the common H63D mutation did not differ, and the allele frequencies ... DisGeNET Detail
In the present work, we have determined the HFE genotypes for C282Y and H63D in subjects from two ca... DisGeNET Detail
H63D mutation in the HFE gene increases iron overload in beta-thalassemia carriers. DisGeNET Detail
We determined the frequency of the HFE polymorphisms, C282Y and H63D, in a randomly selected multi-e... DisGeNET Detail
Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs... DisGeNET Detail
Although the most prevalent genotype in HH is homozygosity for C282Y mutation of the HFE gene, two a... DisGeNET Detail
To test our hypothesis that H63D HFE would be associated with less Pin1 activity, we utilized stably... DisGeNET Detail
H63D HFE polymorphisms increase the risk of neurodegenerative disorders and, specifically, may incre... DisGeNET Detail
In conclusion, we failed to demonstrate that the C282Y and H63D HFE gene mutations were risk factors... DisGeNET Detail
Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and d... DisGeNET Detail
An improved real time PCR method for simultaneous detection of C282Y and H63D mutations in the HFE g... DisGeNET Detail
Association of HFE mutations (C282Y and H63D) with iron overload in blood donors from Mexico City. DisGeNET Detail
The clinical features of HFE-related hemochromatosis were absent, as were the Cys282Tyr and His63Asp... DisGeNET Detail
Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with h... DisGeNET Detail
The H67D knock-in mouse can be used as a model to evaluate how the H63D HFE mutation contributes to ... DisGeNET Detail
Simultaneous detection of HFE C282Y, H63D and S65C mutations associated with type 1 haemochromatosis... DisGeNET Detail
We analyzed data from the Hemochromatosis and Iron Overload Screening Study to assess the relationsh... DisGeNET Detail
Patients with EH (n = 89), EH concurrent with ECa (n = 76), ECa (n = 186), and healthy controls (n =... DisGeNET Detail
The screening of Lithuanian blood donors has detected 13 (1.3%) subjects with a genotype C282Y/C282Y... DisGeNET Detail
First considered as a polymorphism of the HFE gene, the H63D mutation is now widely recognised as a ... DisGeNET Detail
Major histocompatibility complex class I associations in iron overload: evidence for a new link betw... DisGeNET Detail
An MHC like gene, HFE, has recently been identified that is mutated in most patients with hereditary... DisGeNET Detail
Five patients had no HFE mutations; one of these patients unequivocally has iron overload with a hep... DisGeNET Detail
A primary care-based cohort of 20,306 participants (Hemochromatosis and Iron Overload Study, Ontario... DisGeNET Detail
Genotypic testing of nonselected patients with the myelodysplastic syndrome (MDS) for the C282Y and ... DisGeNET Detail
Three allelic variants of HFE gene have been correlated with hereditary hemochromatosis: C282Y is si... DisGeNET Detail
A specific polymorphism in the hemochromatosis (HFE) gene, H63D, is over-represented in neurodegener... DisGeNET Detail
The aim of this study was to assess whether a panel of genetic variants previously reported to influ... DisGeNET Detail
These changes may explain why C282Y-HFE is a risk factor for colon and breast cancer and possibly pr... DisGeNET Detail
Co-inheritance of HFE mutations has a substantial role in iron overload in beta-thalassaemia carrier... DisGeNET Detail
Sixty patients diagnosed with hereditary hemochromatosis with grade 3 or 4 hepatic iron overload and... DisGeNET Detail
Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemo... DisGeNET Detail
In this pilot study, common variants of the apolipoprotein E (APOE) and HFE genes resulting in the i... DisGeNET Detail
The relationship of H63D HFE gene mutations with chronic hepatitis C and the possible influence of H... DisGeNET Detail
The H63D variant in the HFE gene predisposes to arthralgia, chondrocalcinosis and osteoarthritis. DisGeNET Detail
The C282Y mutation of the HFE gene, held responsible for HH, has been identified as the major geneti... DisGeNET Detail
We tested the hypothesis that the HFE genotypes H63D/H63D, H63D/wild type, C282Y/H63D, C282Y/C282Y, ... DisGeNET Detail
Recent reports have described a significant association between inheritance of the C282Y and H63D mu... DisGeNET Detail
The HFE H63D variant may explain, at least in part, the prevalence of arthralgia in multiple joints ... DisGeNET Detail
The HFE gene heterozygosis H63D: a cofactor for liver damage in patients with steatohepatitis? Epide... DisGeNET Detail
Our study shows that the HFE C282Y and H63D are determinants of iron parameters in the elderly and w... DisGeNET Detail
Hereditary hemochromatosis is commonly due to two HFE1 (Histone Family E1) gene mutations - H63D and... DisGeNET Detail
Prevalence and clinical implications of HFE gene mutations (C282Y and H63D) in patients with chronic... DisGeNET Detail
Frequency of the hemochromatosis HFE mutations C282Y, H63D, and S65C in blood donors in the Faroe Is... DisGeNET Detail
A PCR-SSP method for detecting the His63Asp mutation in the HFE gene associated with hereditary haem... DisGeNET Detail
Primary osteoarthritis in the ankle joint is associated with finger metacarpophalangeal osteoarthrit... DisGeNET Detail
In this study, we provide evidence that an Aβ(25-35) fragment, which contains the cytotoxic sequence... DisGeNET Detail
HFE mutations were seen in 47% of patients with chronic hepatitis C and in 28% of control subjects; ... DisGeNET Detail
The finding of a similar prevalence of Cys282Tyr and His63Asp mutations in the HFE gene among contro... DisGeNET Detail
HFE H63D mutation frequency shows an increase in Turkish women with breast cancer. DisGeNET Detail
Two siblings in a pedigree without cardiomyopathy were wild-type at the HFE C282Y locus; although th... DisGeNET Detail
The association between the C282Y and H63D polymorphisms of HFE gene and the risk of Parkinson's dis... DisGeNET Detail
By contrast, the frequencies of the common H63D mutation did not differ, and the allele frequencies ... DisGeNET Detail
Clinical relevance of hemochromatosis-related HFE C282Y/H63D gene mutations in patients on chronic d... DisGeNET Detail
The H63D variant in the HFE gene predisposes to arthralgia, chondrocalcinosis and osteoarthritis. DisGeNET Detail
The HFE p.C282Y in homozygosity or in heterozygosity with p.H63D was the most frequent mutation asso... DisGeNET Detail
A specific polymorphism in the hemochromatosis (HFE) gene, H63D, is over-represented in neurodegener... DisGeNET Detail
Single-nucleotide polymorphism genotyping for C282Y (rs1800562) and H63D (rs1799945) HFE mutations w... DisGeNET Detail
No relationship between HFE mutations and CAD (C282Y, P = 0.402; H63D, P = 0.112; S65C, P = 0.170) o... DisGeNET Detail
An MHC like gene, HFE, has recently been identified that is mutated in most patients with hereditary... DisGeNET Detail
Our results suggest that H63D variant in HFE gene seems to be associated with GC risk of the non-car... DisGeNET Detail
Mutation of the hemochromatosis gene (C282Y and/or H63D) was diagnosed in 16 (55.2%) patients with n... DisGeNET Detail
Prevalence of the H63D mutation of the HFE in north India: its presence does not cause iron overload... DisGeNET Detail
Factors included: apolipoprotein E (ApoE) gene variants (the E4 allele is the strongest confirmed ge... DisGeNET Detail
We assessed iron intake, mutations in the HFE gene that are associated with hereditary hemochromatos... DisGeNET Detail
C282Y and H63D mutations of HFE gene in patients with advanced alcoholic liver disease. DisGeNET Detail
In conclusion, a new association of the HFE H63D mutation with forms of hemochromatosis other than H... DisGeNET Detail
Our results show that the C282Y and H63D mutations of the HFE gene associated with hemochromatosis h... DisGeNET Detail
Association between C282Y and H63D mutations of the HFE gene with hepatocellular carcinoma in Europe... DisGeNET Detail
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. DisGeNET Detail
Mutation H63D in the HFE gene confers risk for the development of type 2 diabetes mellitus but not f... DisGeNET Detail
Naïve haemochromatosis patients with iron overload and with C282Y and/or H63D HFE mutations were eva... DisGeNET Detail
HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity. DisGeNET Detail
Prevalence of the H63D mutation of the HFE in north India: its presence does not cause iron overload... DisGeNET Detail
The aim of this study was to investigate the possible influence of hemochromatosis gene mutations (H... DisGeNET Detail
HFE codon 63/282 (H63D/C282Y) dimorphism in German patients with genetic hemochromatosis. DisGeNET Detail
To describe the clinical expression of iron overload (IO) associated with H63D homozygosity, and sea... DisGeNET Detail
We tested the hypothesis that the HFE genotypes H63D/H63D, H63D/wild type, C282Y/H63D, C282Y/C282Y, ... DisGeNET Detail
In this pilot study, common variants of the apolipoprotein E (APOE) and HFE genes resulting in the i... DisGeNET Detail
Heterozygosity for the C282Y (OR 1.87, 95% CI 1.04-3.25), homozygosity for the H63D HFE (OR 2.31, 95... DisGeNET Detail
HFE C282Y homozygotes and compound heterozygotes (C282Y/H63D) are at risk of developing manifestatio... DisGeNET Detail
Our results suggested that neither C282Y nor H63D in HFE affect Japanese patients with hemochromatos... DisGeNET Detail
Sixty patients diagnosed with hereditary hemochromatosis with grade 3 or 4 hepatic iron overload and... DisGeNET Detail
Frequency of primary iron overload and HFE gene mutations (C282Y, H63D and S65C) in chronic liver di... DisGeNET Detail
We analyzed the frequency of the C282Y and H63D mutations in the HFE gene in 201 Brazilian individua... DisGeNET Detail
HFE gene mutations C282Y and H63D are responsible for the majority of HH cases. DisGeNET Detail
Iron-overload and genotypic expression of HFE mutations H63D/C282Y and transferrin receptor Hin6I an... DisGeNET Detail
The discovery of the C282Y and H63D point mutations in the hereditary hemochromatosis-associated HFE... DisGeNET Detail
Hereditary hemochromatosis (HH) is an autosomal recessive disorder mainly associated with homozygosi... DisGeNET Detail
We then examined transferrin and ferritin concentrations relative to these centiles in 81 individual... DisGeNET Detail
NA DisGeNET Detail
To test whether genetic haemochromatosis is associated with myocardial infarction, we determined the... DisGeNET Detail
However, the H63D polymorphism of the HFE gene may be considered a modifying genetic factor in migra... DisGeNET Detail
The frequent occurrence of beta-thalassemia trait and HFE-H63D in non-Ashkenazi Jews raises the poss... DisGeNET Detail
Prevalence of HFE genotypes, C282Y and H63D, in patients with hematologic disorders. DisGeNET Detail
Two amino acid variants in the HFE gene, C282Y and H63D, have been reported in most cases of heredit... DisGeNET Detail
HFE mutations and chronic hepatitis C: H63D and C282Y heterozygosity are independent risk factors fo... DisGeNET Detail
Primary osteoarthritis in the ankle joint is associated with finger metacarpophalangeal osteoarthrit... DisGeNET Detail
Co-inheritance of HFE mutations has a substantial role in iron overload in beta-thalassaemia carrier... DisGeNET Detail
Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp]... DisGeNET Detail
Hereditary hemochromatosis has been linked with C282Y and H63D mutations of the HFE gene encoding hu... DisGeNET Detail
By contrast, the frequencies of the common H63D mutation did not differ, and the allele frequencies ... DisGeNET Detail
In this study, we provide evidence that an Aβ(25-35) fragment, which contains the cytotoxic sequence... DisGeNET Detail
The wild-type HH (HFE) protein complexes with the transferrin receptor (TFR), and two HFE mutations ... DisGeNET Detail
To investigate the prevalence in the Michigan non-Hispanic Caucasian population of the C282Y, H63D a... DisGeNET Detail
The aim of this study was to find out whether C282Y and H63D mutations in the hemochromatosis (HFE) ... DisGeNET Detail
These changes may explain why C282Y-HFE is a risk factor for colon and breast cancer and possibly pr... DisGeNET Detail
H63D HFE polymorphisms are associated with increased disease duration and decreased muscle superoxid... DisGeNET Detail
HFE mutations of C282Y and H63D are largely responsible for HH in populations of Celtic ancestry. DisGeNET Detail
Noniatrogenic haemochromatosis in congenital dyserythropoietic anaemia type II is not related to C28... DisGeNET Detail
The present study confirms the presence of iron overload in alcoholics, which was more severe in the... DisGeNET Detail
Haemochromatosis HFE gene polymorphisms (p.H63D and p.C282Y) have shown significant association with... DisGeNET Detail
To detect two novel mutations (C282Y and H63D) of the HFE gene in Chinese patients with hepatic iron... DisGeNET Detail
The recent identification of 2 mutations in the HFE gene related to hereditary haemochromatosis (Cys... DisGeNET Detail
Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs... DisGeNET Detail
Genotyping of the hemochromatosis HFE p.H63D and p.C282Y mutations by high-resolution melting with t... DisGeNET Detail
Patients with EH (n = 89), EH concurrent with ECa (n = 76), ECa (n = 186), and healthy controls (n =... DisGeNET Detail
Additionally, we sequenced the HFE gene of H63D homozygotes with HH. DisGeNET Detail
The other HFE mutation H63D does not confer increased risk to childhood ALL. DisGeNET Detail
The influence of TMPRSS6 on hepatic iron accumulation was more marked in patients negative for HFE g... DisGeNET Detail
C282Y and H63D mutations in the hemochromatosis (HFE) gene are associated with increased serum iron ... DisGeNET Detail
Lack of association of C282Y and H63D mutations in the hemochromatosis (HFE) gene with diabetes mell... DisGeNET Detail
The aim of this study was to evaluate the prevalence of the H63D, S65C and C282Y mutations in the HF... DisGeNET Detail
Iron-overload and genotypic expression of HFE mutations H63D/C282Y and transferrin receptor Hin6I an... DisGeNET Detail
This study compared hepcidin and non-transferrin bound iron (NTBI) levels in untreated iron-loaded a... DisGeNET Detail
Using amplification refractory mutation system polymerase chain reaction, an analysis of HFE-codon 6... DisGeNET Detail
Hereditary haemochromatosis has been linked with C282Y and H63D mutations of the HFE gene. DisGeNET Detail
No documented iron overload was observed for HFE simple heterozygotes for either C282Y or H63D, and ... DisGeNET Detail
However, glucose intolerance may be important risk factor for the development of hepatic fibrosis in... DisGeNET Detail
In this pilot study, common variants of the apolipoprotein E (APOE) and HFE genes resulting in the i... DisGeNET Detail
Our results suggested that neither C282Y nor H63D in HFE affect Japanese patients with hemochromatos... DisGeNET Detail
The H63D HFE variant appears less frequently associated with hemochromatosis, but its role in the ne... DisGeNET Detail
HFE mutation H63D predicts risk of iron over load in thalassemia intermedia irrespective of blood tr... DisGeNET Detail
Previous studies in cell models have shown the H63D HFE variant to result in increased cellular iron... DisGeNET Detail
The frequent occurrence of beta-thalassemia trait and HFE-H63D in non-Ashkenazi Jews raises the poss... DisGeNET Detail
Primary osteoarthritis in the ankle joint is associated with finger metacarpophalangeal osteoarthrit... DisGeNET Detail
The description of two mutations in the HFE gene (Cys282Tyr and His63Asp) related to hereditary hemo... DisGeNET Detail
The Hemochromatosis and Iron Overload Screening (HEIRS) Study screened 101,168 primary care particip... DisGeNET Detail
She was heterozygous for the common H63D mutation of the hemochromatosis-associated HFE gene. DisGeNET Detail
To test our hypothesis that H63D HFE would be associated with less Pin1 activity, we utilized stably... DisGeNET Detail
Aims of the study were: (i) to determine the prevalence of mutations C282Y and H63D in the HFE gene ... DisGeNET Detail
Hemochromatosis gene (HFE) mutations namely C282Y and H63D may cause hepatic iron overload, thus inc... DisGeNET Detail
Analysis of HFE-codon 63/282 (H63D/C282Y) gene variants in mexican mestizos. Blood donors and patien... DisGeNET Detail
It has been reported that persons carrying the H63D variant in their hemochromatosis (HFE) gene are ... DisGeNET Detail
Factors included: apolipoprotein E (ApoE) gene variants (the E4 allele is the strongest confirmed ge... DisGeNET Detail
C282Y and H63D mutations in the HFE gene have no effect on iron overload disorders in Japan. DisGeNET Detail
Three allelic variants of HFE gene have been correlated with hereditary hemochromatosis: C282Y is si... DisGeNET Detail
Major histocompatibility complex class I associations in iron overload: evidence for a new link betw... DisGeNET Detail
Three polymorphic gene mutations in the human hemochromatosis (HFE) gene (C282Y, H63D, S65C) are ass... DisGeNET Detail
Relations among serum ferritin, C282Y and H63D mutations in the HFE gene and type 2 diabetes mellitu... DisGeNET Detail
We used the eMERGE Network, a multicenter cohort with genotype data linked to electronic medical rec... DisGeNET Detail
The H63D polymorphism in the hemochromatosis (HFE) gene has been reported as a risk factor for amyot... DisGeNET Detail
HFE gene mutations (C282Y and H63D) linked to hereditary hemochromatosis were analyzed by Fluorescen... DisGeNET Detail
The recipient did not carry either the C282Y or the H63D mutation of the HFE gene for hemochromatosi... DisGeNET Detail
In conclusion, our results indicate a minor role for the HFE mutations C282Y and H63D in the causati... DisGeNET Detail
Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and d... DisGeNET Detail
Two popular mutations in HFE, p.C282Y and p.H63D, have been discovered and found to associate with H... DisGeNET Detail
Five patients had no HFE mutations; one of these patients unequivocally has iron overload with a hep... DisGeNET Detail
[Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.] DisGeNET Detail
The association between H63D mutations in HFE and amyotrophic lateral sclerosis in a Dutch populatio... DisGeNET Detail
Common HFE mutations (C282Y and H63D) are related to the majority of hereditary hemochromatosis case... DisGeNET Detail
Our aim was to estimate the frequency of hemochromatosis gene (HFE) mutant alleles (C282Y and H63D) ... DisGeNET Detail
HFE mutations and chronic hepatitis C: H63D and C282Y heterozygosity are independent risk factors fo... DisGeNET Detail
NTNFETs with immobilized synthetic oligonucleotides have been shown to specifically recognize target... DisGeNET Detail
This study aims to determine whether the two major mutations of the haemochromatosis (HFE) gene (C28... DisGeNET Detail
To test our hypothesis that H63D HFE would be associated with less Pin1 activity, we utilized stably... DisGeNET Detail
In this pilot study, common variants of the apolipoprotein E (APOE) and HFE genes resulting in the i... DisGeNET Detail
The wild-type HH (HFE) protein complexes with the transferrin receptor (TFR), and two HFE mutations ... DisGeNET Detail
Higher brain iron levels are associated with male gender and presence of highly prevalent allelic va... DisGeNET Detail
In conclusion, HFE genetic variant H63D was associated with essential hypertension in Finnish subjec... DisGeNET Detail
Heterozygosity for the C282Y (OR 1.87, 95% CI 1.04-3.25), homozygosity for the H63D HFE (OR 2.31, 95... DisGeNET Detail
The presence of mutation in the hemochromatosis gene (C282Y and H63D) was tested in all patients and... DisGeNET Detail
We used the LightCycler technology for simultaneous detection of the H63D and C282Y mutations of the... DisGeNET Detail
Biochemical testing returned high levels of iron and percentage transferrin saturation, and genetic ... DisGeNET Detail
Among 549 patients we found 10 to have the phenotype of hemochromatosis and 3 out of the 10 were fou... DisGeNET Detail
Among 549 patients we found 10 to have the phenotype of hemochromatosis and 3 out of the 10 were fou... DisGeNET Detail
Two siblings in a pedigree without cardiomyopathy were wild-type at the HFE C282Y locus; although th... DisGeNET Detail
H63D polymorphism in the hemochromatosis gene is associated with sporadic amyotrophic lateral sclero... DisGeNET Detail
To assess the frequency of 2 different forms of hemochromatosis HFE gene mutations (C282Y and H63D m... DisGeNET Detail
Primary osteoarthritis in the ankle joint is associated with finger metacarpophalangeal osteoarthrit... DisGeNET Detail
Porphyria cutanea tarda, C282Y, H63D and S65C HFE gene mutations and hepatitis C infection: a study ... DisGeNET Detail
Two mutations (C282Y and H63D) in the novel major histocompatibility complex (MHC) class 1 gene HFE ... DisGeNET Detail
To determine the prevalence of the haemochromatosis associated HFE mutations C282Y and H63D in Unite... DisGeNET Detail
The H63D genetic variant of the HFE gene is independently associated with the virological response t... DisGeNET Detail
Hereditary Haemochromatosis is caused by disruption of iron homeostasis due to mutations in the HFE ... DisGeNET Detail
We analyzed the frequency of the C282Y and H63D mutations in the HFE gene in 201 Brazilian individua... DisGeNET Detail
These changes may explain why C282Y-HFE is a risk factor for colon and breast cancer and possibly pr... DisGeNET Detail
Liver is the primary target organ of Hereditary Hemochromatosis Type I, with the HFE mutations C282Y... DisGeNET Detail
The Hemochromatosis and Iron Overload Screening Study screened 101,168 primary care participants for... DisGeNET Detail
The possibility of cirrhosis-associated hemosiderosis secondary to an iron metabolism abnormality as... DisGeNET Detail
Genetic hemochromatosis (GH) is associated with two mutations of the HFE gene (Cys282Tyr and His63As... DisGeNET Detail
HFE is a gene with the polymorphisms C282Y and H63D, which are associated with a progressive iron ac... DisGeNET Detail
The possibility of cirrhosis-associated hemosiderosis secondary to an iron metabolism abnormality as... DisGeNET Detail
High prevalence of the His63Asp HFE mutation in Italian patients with porphyria cutanea tarda. DisGeNET Detail
A one-step, bioelectronic detection assay was developed to genotype patient samples with respect to ... DisGeNET Detail
We describe here a kindred in which the propositus, being heterozygote for beta-thalassemia and the ... DisGeNET Detail
Liver iron overload on initial biopsy according to modified Deugnier's score and C282Y/H63D HFE gene... DisGeNET Detail
At multivariate analysis MCP arthropathy was independently associated with older age [odds ratio (OR... DisGeNET Detail
To test our hypothesis that H63D HFE would be associated with less Pin1 activity, we utilized stably... DisGeNET Detail
In conclusion, our results indicate a minor role for the HFE mutations C282Y and H63D in the causati... DisGeNET Detail
[Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.] DisGeNET Detail
Mutation of the hemochromatosis gene (C282Y and/or H63D) was diagnosed in 16 (55.2%) patients with n... DisGeNET Detail
We examined cardiovascular disease risk factors and iron and liver biomarkers, as well as morbidity ... DisGeNET Detail
Liver is the primary target organ of Hereditary Hemochromatosis Type I, with the HFE mutations C282Y... DisGeNET Detail
To test our hypothesis that H63D HFE would be associated with less Pin1 activity, we utilized stably... DisGeNET Detail
The possibility of cirrhosis-associated hemosiderosis secondary to an iron metabolism abnormality as... DisGeNET Detail
HFE mutations and chronic hepatitis C: H63D and C282Y heterozygosity are independent risk factors fo... DisGeNET Detail
Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and d... DisGeNET Detail
Five SNPs in 4 genes were assessed: hemochromatosis (HFE: C282Y, H63D), ferroportin (FPN1: -8CG), he... DisGeNET Detail
Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs... DisGeNET Detail
In addition, we find that the HH-associated mutant H41D has lost the ability to inhibit iron release... DisGeNET Detail
The HEIRS Study screened 101,168 primary care participants for iron overload with serum transferrin ... DisGeNET Detail
One of the 220 patients (0.45%) with diabetes was homozygous for the HFE 845A (C282Y) mutation and 2... DisGeNET Detail
The analysis of HFE gene mutations (C282Y and H63D) is a simple and strong tool in the diagnostic wo... DisGeNET Detail
We analyzed data from the Hemochromatosis and Iron Overload Screening Study to assess the relationsh... DisGeNET Detail
H63D HFE genotype accelerates disease progression in animal models of amyotrophic lateral sclerosis. DisGeNET Detail
No relationship between HFE mutations and CAD (C282Y, P = 0.402; H63D, P = 0.112; S65C, P = 0.170) o... DisGeNET Detail
The occurrence of the C282Y and H63D mutations of the HFE gene, responsible for toxic iron overload ... DisGeNET Detail
In addition, we find that the HH-associated mutant H41D has lost the ability to inhibit iron release... DisGeNET Detail
H63D HFE polymorphisms are associated with increased disease duration and decreased muscle superoxid... DisGeNET Detail
Two frequent mutations in the HFE gene, H63D and C282Y, are associated with hemochromatosis type I, ... DisGeNET Detail
We tested the hypothesis that the HFE genotypes H63D/H63D, H63D/wild type, C282Y/H63D, C282Y/C282Y, ... DisGeNET Detail
The description of two mutations in the HFE gene (Cys282Tyr and His63Asp) related to hereditary hemo... DisGeNET Detail
In conclusion, we failed to demonstrate that the C282Y and H63D HFE gene mutations were risk factors... DisGeNET Detail
Heterozygosity for the H63D mutation in the hereditary hemochromatosis (HFE) gene may lead into seve... DisGeNET Detail
Our results show that the C282Y and H63D mutations of the HFE gene associated with hemochromatosis h... DisGeNET Detail
Mutations in the hemochromatosis gene (HFE) (C282Y and H63D) lead to parenchymal iron accumulation, ... DisGeNET Detail
To study the role of hemochromatosis gene mutations on the pathogenesis of alcoholic liver disease (... DisGeNET Detail
Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs... DisGeNET Detail
In conclusion, clinical suspicion of hemochromatosis and elevated serum iron parameters should promp... DisGeNET Detail
A specific polymorphism in the hemochromatosis (HFE) gene, H63D, is over-represented in neurodegener... DisGeNET Detail
To determine the contribution of the C282Y and H63D mutations in the HFE gene to clinical expression... DisGeNET Detail
Hereditary haemochromatosis is rarely observed among Indians and so are the C282Y and H63D mutations... DisGeNET Detail
The H63D mutation of the hemochromatosis gene is associated with sustained virological response in c... DisGeNET Detail
The aim of this study was to evaluate the prevalence of the H63D, S65C and C282Y mutations in the HF... DisGeNET Detail
Individuals heterozygous for either the C282Y or H63D mutation of the HFE gene are not at increased ... DisGeNET Detail
Two mutations in the HFE gene have been implicated in HH: 80 to 90% of the patients with HH are homo... DisGeNET Detail
Iron-overload and genotypic expression of HFE mutations H63D/C282Y and transferrin receptor Hin6I an... DisGeNET Detail
Hereditary hemochromatosis gene (HFE) mutations C282Y, H63D and S65C in patients with idiopathic dil... DisGeNET Detail
Distribution of C282Y and H63D mutations in the HFE gene in healthy Asian Indians and patients with ... DisGeNET Detail
[Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.] DisGeNET Detail
The recent identification of 2 mutations in the HFE gene related to hereditary haemochromatosis (Cys... DisGeNET Detail
Most people with HH are C282Y homozygotes, a small proportion are compound heterozygotes or H63D hom... DisGeNET Detail
We have investigated the relationship between age of onset of skin lesions and mutations (C282Y, H63... DisGeNET Detail
The finding of a similar prevalence of Cys282Tyr and His63Asp mutations in the HFE gene among contro... DisGeNET Detail
This study aims to determine whether the two major mutations of the haemochromatosis (HFE) gene (C28... DisGeNET Detail
To test the hypothesis that possession of either C282Y or H63D mutations in the HFE gene is associat... DisGeNET Detail
One of the 220 patients (0.45%) with diabetes was homozygous for the HFE 845A (C282Y) mutation and 2... DisGeNET Detail
Although the higher allele frequency of the H63D mutation in Turkish HH patients than in the general... DisGeNET Detail
Heterozygosity for the H63D mutation in the hereditary hemochromatosis (HFE) gene may lead into seve... DisGeNET Detail
We determined the age; sex; presence of IRS (1 or more of the following: body mass index of &gt;25, ... DisGeNET Detail
We determined the prevalence of the H63D and the IVS5#1G-A HFE mutations in 370 (169 males and 201 f... DisGeNET Detail
We assessed the frequency of the G71D mutation of the HAMP gene and the H63D mutation of the HFE gen... DisGeNET Detail
Thus, The HAMP-G71D and HFE-H63D variants are not uncommon among the Egyptian SCD patients; neither ... DisGeNET Detail
We assessed the frequency of the G71D mutation of the HAMP gene and the H63D mutation of the HFE gen... DisGeNET Detail
Thus, The HAMP-G71D and HFE-H63D variants are not uncommon among the Egyptian SCD patients; neither ... DisGeNET Detail
We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H... DisGeNET Detail
We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H... DisGeNET Detail
We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H... DisGeNET Detail
We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H... DisGeNET Detail
We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H... DisGeNET Detail
We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H... DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1799945 dbSNP
Genome
hg38
Position
chr6:26,090,951-26,090,951
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1203
Mean of sample read depth (HGVD)
42.94
Standard deviation of sample read depth (HGVD)
23.28
Number of reference allele (HGVD)
2339
Number of alternative allele (HGVD)
67
Allele Frequency (HGVD)
0.027847049044056525
Gene Symbol (HGVD)
HFE
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs1799945
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0298
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
500
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
316
East Asian Heterozygous Counts (ExAC)
308
East Asian Homozygous Counts (ExAC)
4
East Asian Allele Frequency (ExAC)
0.03651490640166397
Chromosome Counts in All Race (ExAC)
121408
Allele Counts in All Race (ExAC)
12942
Heterozygous Counts in All Race (ExAC)
11224
Homozygous Counts in All Race (ExAC)
859
Allele Frequency in All Race (ExAC)
0.1065992356352135
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