chr6:26093141:G>A Detail (hg19) (HFE)

Information

Genome

Assembly Position
hg19 chr6:26,093,141-26,093,141
hg38 chr6:26,092,913-26,092,913 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000410.3:c.845G>A NP_000401.1:p.Cys282Tyr
NM_001300749.1:c.845G>A NP_001287678.1:p.Cys282Tyr
NM_139007.2:c.581G>A NP_620576.1:p.Cys194Tyr
Summary

MGeND

Clinical significance Likely pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic low penetrance; other; risk factor
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
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Likely pathogenic other germline MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-11-05 criteria provided, multiple submitters, no conflicts hemochromatosis type 1 germline unknown Detail
Pathogenic; other 2024-04-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2015-12-01 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic Pathogenic low penetrance 2024-01-31 criteria provided, multiple submitters, no conflicts Hereditary hemochromatosis biparental germline unknown Detail
no classifications from unflagged records 2023-11-14 no classifications from unflagged records unknown Detail
not provided no assertion provided Bronze diabetes unknown Detail
Pathogenic 2018-05-11 criteria provided, single submitter Peripheral neuropathy germline Detail
Pathogenic 2021-04-15 criteria provided, single submitter cardiomyopathy germline Detail
Pathogenic 2024-01-11 criteria provided, multiple submitters, no conflicts HFE-related disorder germline Detail
Pathogenic 2021-09-27 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2021-03-30 criteria provided, single submitter Microvascular complications of diabetes, susceptibility to, 7,variegate porphyria,hemochromatosis type 1,Transferrin serum level quantitative trait locus 2,Alzheimer disease type 1,Familial porphyria cutanea tarda germline Detail
Pathogenic 2021-03-30 criteria provided, single submitter Microvascular complications of diabetes, susceptibility to, 7,variegate porphyria,hemochromatosis type 1,Transferrin serum level quantitative trait locus 2,Alzheimer disease type 1,Familial porphyria cutanea tarda germline Detail
Pathogenic 2021-03-30 criteria provided, single submitter Microvascular complications of diabetes, susceptibility to, 7,variegate porphyria,hemochromatosis type 1,Transferrin serum level quantitative trait locus 2,Alzheimer disease type 1,Familial porphyria cutanea tarda germline Detail
Pathogenic 2021-03-30 criteria provided, single submitter Microvascular complications of diabetes, susceptibility to, 7,variegate porphyria,hemochromatosis type 1,Transferrin serum level quantitative trait locus 2,Alzheimer disease type 1,Familial porphyria cutanea tarda germline Detail
Pathogenic 2021-03-30 criteria provided, single submitter Microvascular complications of diabetes, susceptibility to, 7,variegate porphyria,hemochromatosis type 1,Transferrin serum level quantitative trait locus 2,Alzheimer disease type 1,Familial porphyria cutanea tarda germline Detail
Pathogenic 2021-03-30 criteria provided, single submitter Microvascular complications of diabetes, susceptibility to, 7,variegate porphyria,hemochromatosis type 1,Transferrin serum level quantitative trait locus 2,Alzheimer disease type 1,Familial porphyria cutanea tarda germline Detail
risk factor 2020-03-04 criteria provided, single submitter Juvenile hemochromatosis germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.129 liver carcinoma Six SNPs of five genes (rs1800562 of HFE, rs17868323 and rs11692021 of UGT1A7, r... BeFree 21240526 Detail
0.017 liver carcinoma Six SNPs of five genes (rs1800562 of HFE, rs17868323 and rs11692021 of UGT1A7, r... BeFree 21240526 Detail
0.030 liver carcinoma Six SNPs of five genes (rs1800562 of HFE, rs17868323 and rs11692021 of UGT1A7, r... BeFree 21240526 Detail
0.170 Iron Overload Clinical expression of hemochromatosis was assessed as a function of TLR4, TLR9,... BeFree 19809335 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
0.360 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
0.205 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
0.018 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
0.090 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
0.360 hemochromatosis The aims of this study were: 1) To determine the prevalence of the hemochromatos... BeFree 11686223 Detail
<0.001 brain infarction In the present work, we have determined the HFE genotypes for C282Y and H63D in ... BeFree 11380589 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
0.050 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
0.360 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
0.205 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
0.003 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
0.205 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
0.360 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
0.008 atherosclerosis The finding of a similar prevalence of Cys282Tyr and His63Asp mutations in the H... BeFree 10719381 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
0.360 hemochromatosis Clinical relevance of hemochromatosis-related HFE C282Y/H63D gene mutations in p... BeFree 12508966 Detail
0.205 Hereditary hemochromatosis The HFE p.C282Y in homozygosity or in heterozygosity with p.H63D was the most fr... BeFree 21411349 Detail
0.003 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
0.161 hepatitis C Mutation of the hemochromatosis gene (C282Y and/or H63D) was diagnosed in 16 (55... BeFree 17160239 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
0.170 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
0.170 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
0.011 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
<0.001 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 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
0.024 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
0.007 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
0.205 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
0.360 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
<0.001 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
0.205 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
0.205 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
0.008 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
0.170 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
0.205 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
0.205 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
0.016 myocardial infarction This study aims to determine whether the two major mutations of the haemochromat... BeFree 12923017 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
0.007 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
0.170 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
0.360 hemochromatosis To assess the frequency of 2 different forms of hemochromatosis HFE gene mutatio... BeFree 18521456 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
0.205 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
0.205 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
0.170 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
<0.001 Malignant neoplasm of male breast In conclusion, our results indicate a minor role for the HFE mutations C282Y and... BeFree 16003728 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
0.014 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
0.170 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
0.127 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
0.360 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
0.054 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
0.205 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
0.003 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
0.161 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
<0.001 Hyperlipidemia We determined the age; sex; presence of IRS (1 or more of the following: body ma... BeFree 10535879 Detail
0.205 Hereditary hemochromatosis A C282Y missense mutation in the HFE gene causes up to 90 percent of HH cases. BeFree 23342715 Detail
0.205 Hereditary hemochromatosis The most frequent genotype associated with Hereditary hemochromatosis is the hom... BeFree 18762941 Detail
0.205 Hereditary hemochromatosis Most adults affected with HFE hereditary hemochromatosis (HH type 1, MIMmusical ... BeFree 18157833 Detail
0.360 hemochromatosis Common variable immunodeficiency and IgG subclass deficiency in central Alabama ... BeFree 12850493 Detail
0.010 Iron Metabolism Disorders Hereditary hemochromatosis (HH) is a disorder of iron metabolism that leads to i... BeFree 10953958 Detail
0.002 Central neuroblastoma C282Y-HFE gene variant affects cholesterol metabolism in human neuroblastoma cel... BeFree 24533143 Detail
0.205 Hereditary hemochromatosis Homozygosity for the C282Y mutation in the HFE gene is strongly associated with ... BeFree 12210292 Detail
0.018 hemochromatosis We have examined transferrin receptor-1, ferroportin, ceruloplasmin, ferritin li... BeFree 11783942 Detail
0.360 hemochromatosis Hemochromatosis in white subjects is mostly due to homozygosity for the common C... BeFree 16476869 Detail
0.360 hemochromatosis Direct comparison of the telomerically extended portion of the MS susceptibility... BeFree 15014978 Detail
0.205 Hereditary hemochromatosis The main hereditary hemochromatosis mutation C282Y in the HFE gene was recently ... BeFree 10953956 Detail
0.205 Hereditary hemochromatosis Hereditary hemochromatosis is associated with homozygosity for C282Y mutation in... BeFree 12763366 Detail
0.205 Hereditary hemochromatosis A 65-yr-old Japanese woman presenting with primary hemochromatosis underwent HFE... BeFree 11513196 Detail
0.205 Hereditary hemochromatosis Homozygosity for the C282Y mutation of the HFE gene is a highly significant risk... BeFree 11531973 Detail
<0.001 Beta thalassemia minor Patient 1 had hemochromatosis, HFE C282Y homozygosity, and beta-thalassemia mino... BeFree 16838333 Detail
0.017 amyotrophic lateral sclerosis The C282Y polymorphism in HFE could be a potential protective factor for ALS in ... BeFree 24604426 Detail
0.205 Hereditary hemochromatosis TSI and serum ferritin values detected most HFE C282Y variant homozygotes and ar... BeFree 15986199 Detail
0.360 hemochromatosis High prevalence of the hemochromatosis-associated Cys282Tyr HFE gene mutation in... BeFree 10423072 Detail
0.003 Thromboembolism Risk of venous thromboembolism associated with the common hereditary haemochroma... BeFree 10233369 Detail
0.170 Iron Overload To determine the extent to which mutations in the transferrin receptor-2 gene oc... BeFree 11358389 Detail
0.205 Hereditary hemochromatosis Risk of venous thromboembolism associated with the common hereditary haemochroma... BeFree 10233369 Detail
0.205 Hereditary hemochromatosis HFE gene testing for the C282Y mutation is a cost-effective method of screening ... BeFree 10681280 Detail
0.090 liver cirrhosis Except for C282Y homozygotes, HFE gene mutations do not increase the risk to dev... BeFree 12591066 Detail
0.006 anemia Two had severe iron overload and no anemia: one also had HFE C282Y homozygosity,... BeFree 16446107 Detail
0.205 Hereditary hemochromatosis The homozygous p.C282Y variant of the HFE gene is a major risk factor for heredi... BeFree 17666895 Detail
<0.001 hemochromatosis Duodenal biopsy samples were analyzed using real-time PCR for expression of DMT1... BeFree 19892936 Detail
0.120 Transferrin serum level quantitative trait locus 2 NA CLINVAR Detail
0.003 Diabetes Testing for HFE mutations in clinics for diabetes, liver disease and cardiovascu... BeFree 12401309 Detail
0.360 hemochromatosis The CD8+ T-lymphocyte profile as a modifier of iron overload in HFE hemochromato... BeFree 16762569 Detail
0.003 Diabetes Chart reviews were performed on a cohort of adults (age ≥40, N = 101) with the c... BeFree 25044717 Detail
0.360 hemochromatosis Duodenal biopsy samples were analyzed using real-time PCR for expression of DMT1... BeFree 19892936 Detail
0.205 Hereditary hemochromatosis A novel mutation of HFE explains the classical phenotype of genetic hemochromato... BeFree 10348824 Detail
0.004 Fibrosis, Liver HFE C282Y mutations are associated with advanced hepatic fibrosis in Caucasians ... BeFree 17680648 Detail
0.014 Cirrhosis Most clinical cases are homozygous for the Cys282Tyr (C282Y) mutation in the HFE... BeFree 20583211 Detail
0.031 hemochromatosis RESEARCH DESIGN AND METHODS We studied these 16 variables in 159 nonscreening he... BeFree 23990522 Detail
0.120 Finding of Mean Corpuscular Hemoglobin GWAS of blood cell traits identifies novel associated loci and epistatic interac... GWASCAT 23263863 Detail
0.002 Iron Overload The mild iron overload associated with heterozygosity for C282Y HFE mutation con... BeFree 12779071 Detail
0.016 colorectal cancer Heterozygosity for the Cys282Tyr mutation in the HFE gene and the risk of colore... BeFree 12948285 Detail
0.170 Iron Overload A previously undescribed frameshift deletion mutation of HFE (c.del277; G93fs) a... BeFree 15324319 Detail
0.010 Iron Metabolism Disorders Hereditary hemochromatosis (HH) is one of the most common autosomal recessive di... BeFree 12537659 Detail
0.066 Hepatitis C, Chronic We have studied the relationship between serum ferritin, transferrin saturation,... BeFree 12100578 Detail
0.003 Cirrhosis We assessed the influence of Ala16Val-superoxide dismutase 2, Pro198Leu-glutathi... BeFree 20673159 Detail
0.205 Hereditary hemochromatosis The C282Y homozygous HFE hereditary hemochromatosis genotype was under-represent... BeFree 15377292 Detail
0.205 Hereditary hemochromatosis The data show that expression of C282Y HFE triggers a stress-protective response... BeFree 18045552 Detail
0.205 Hereditary hemochromatosis This study was undertaken to determine the HFE genotype in liver transplant reci... BeFree 9873093 Detail
0.205 Hereditary hemochromatosis We determined whether the rise in post-prandial serum iron is increased in fully... BeFree 18276042 Detail
0.360 hemochromatosis Hemochromatosis is a common disorder of iron overload most commonly due to homoz... BeFree 23098241 Detail
0.003 common variable immunodeficiency Eight hemochromatosis probands with HFE C282Y homozygosity had frequent, severe,... BeFree 12850493 Detail
0.090 liver cirrhosis We assessed the influence of Ala16Val-superoxide dismutase 2, Pro198Leu-glutathi... BeFree 20673159 Detail
0.205 Hereditary hemochromatosis The most common form of primary hemochromatosis is that caused by C282Y mutation... BeFree 16409153 Detail
0.205 Hereditary hemochromatosis The majority of hereditary haemochromatosis (HH) patients are homozygous for the... BeFree 12077102 Detail
0.170 Iron Overload Determinants and characteristics of mean corpuscular volume and hemoglobin conce... BeFree 17597476 Detail
0.360 hemochromatosis The purpose of this study was to estimate analytic sensitivity and specificity o... BeFree 14614395 Detail
0.066 Hepatitis C, Chronic We evaluated whether the recently described C282Y mutation of the hemochromatosi... BeFree 9620344 Detail
<0.001 Liver diseases Duodenal biopsy samples were analyzed using real-time PCR for expression of DMT1... BeFree 19892936 Detail
0.205 Hereditary hemochromatosis HFE is a class-I MHC related protein which carries the C282Y mutation in most pa... BeFree 10756357 Detail
0.170 Iron Overload In populations of northern European descent, the p.C282Y mutation in the HFE gen... BeFree 19444013 Detail
0.004 Fibrosis, Liver Non-invasive assessment of liver fibrosis in C282Y homozygous HFE hemochromatosi... BeFree 25495562 Detail
0.008 atherosclerosis HFE C282Y homozygotes have reduced low-density lipoprotein cholesterol: the Athe... BeFree 18593631 Detail
<0.001 Diabetes Mellitus, Insulin-Dependent Increased transferrin saturation and HFE genotype C282Y/C282Y predict total mort... BeFree 23801727 Detail
<0.001 Alcohol abuse In Caucasians, C282Y HFE homozygotes are numerous, but they are only predisposed... BeFree 26164493 Detail
<0.001 Alcohol abuse Unlike these rare instances, in white people, homozygotes for C282Y polymorphism... BeFree 20542038 Detail
0.360 hemochromatosis Twenty-four male patients (mean age 47.2 +/- 12 years) homozygous for the C282Y ... BeFree 15120171 Detail
0.011 hepatitis B At univariate analysis, iron overload was significantly associated with both HFE... BeFree 11500061 Detail
0.021 Degenerative polyarthritis HFE C282Y homozygosity is associated with an increased risk of total hip replace... BeFree 22209421 Detail
0.002 Chronic viral hepatitis Other recent evidence indicates that the prevalence of HFE gene mutations is inc... BeFree 12957298 Detail
0.090 liver cirrhosis RESEARCH DESIGN AND METHODS We studied these 16 variables in 159 nonscreening he... BeFree 23990522 Detail
0.205 Hereditary hemochromatosis The C282Y mutation in the HFE gene is responsible for most cases of hereditary h... BeFree 17661761 Detail
0.360 hemochromatosis Hemochromatosis is considered by many to be an uncommon disorder, although the p... BeFree 22183642 Detail
0.044 liver carcinoma We assessed the influence of Ala16Val-superoxide dismutase 2, Pro198Leu-glutathi... BeFree 20673159 Detail
0.205 Hereditary hemochromatosis The 845A(C282Y) mutation in the HLA-H gene accounts for most cases of hereditary... BeFree 9234244 Detail
0.170 Iron Overload Hereditary hemochromatosis (HH) is a genetic disease associated with iron overlo... BeFree 17904763 Detail
0.360 hemochromatosis Effect of Native American ancestry on iron-related phenotypes of Alabama hemochr... BeFree 16533407 Detail
0.003 Cluster Headache A 60-year-old woman with secondary chronic cluster headache had increased serum ... BeFree 12100096 Detail
0.170 Iron Overload We have detected two new HAMP mutations in two different families, in which ther... BeFree 12915468 Detail
0.003 Non-alcoholic Fatty Liver Disease The mild iron overload associated with heterozygosity for C282Y HFE mutation con... BeFree 12779071 Detail
0.205 Hereditary hemochromatosis Together, these data shed light on the molecular mechanisms involved in HFE C282... BeFree 17626021 Detail
0.205 Hereditary hemochromatosis About 80% of individuals of European descent with HH are homozygous for a cystei... BeFree 12208162 Detail
0.360 hemochromatosis Heterozygosity for p.Cys282YTyr is not ordinarily associated with a hemochromato... BeFree 20117027 Detail
0.205 Hereditary hemochromatosis The most common mutation of HFE, C282Y, has a Celtic origin and most patients wi... BeFree 12002748 Detail
0.240 Thromboembolism Factor V Leiden and the common haemochromatosis mutation HFE C282Y: is there an ... BeFree 10520044 Detail
0.014 Cirrhosis In HCV-infected patients, heterozygosity for the C282Y mutation in HFE was signi... BeFree 14557859 Detail
<0.001 hemochromatosis Duodenal biopsy samples were analyzed using real-time PCR for expression of DMT1... BeFree 19892936 Detail
0.205 Hereditary hemochromatosis The most common form of hereditary haemochromatosis is an adult-onset condition ... BeFree 15254010 Detail
0.205 Hereditary hemochromatosis In Northern Europe, more than 90% of HH patients are homozygous for a mis-sense ... BeFree 12941522 Detail
0.066 Hepatitis C, Chronic Heterozygosityfor the C282Y mutation in HFE contributes to iron accumulation and... BeFree 15865084 Detail
0.205 Hereditary hemochromatosis In Spain, 85% of patients with genetic hemochromatosis (GH) are homozygous for t... BeFree 15684872 Detail
0.170 Iron Overload HFE C282Y homozygotes without phenotypic expression do not have significantly de... BeFree 19892936 Detail
0.001 arteriosclerosis HFE C282Y homozygotes have reduced low-density lipoprotein cholesterol: the Athe... BeFree 18593631 Detail
0.090 liver cirrhosis [A small but significant number of Norwegian male C282Y homozygotes will contrac... GAD 17710673 Detail
0.360 hemochromatosis Factor V Leiden and the common haemochromatosis mutation HFE C282Y: is there an ... BeFree 10520044 Detail
<0.001 Carcinogenesis Iron metabolism has been implicated in carcinogenesis and several studies assess... BeFree 19258483 Detail
0.170 Iron Overload HFE C282Y homozygosity is associated with lower total and low-density lipoprotei... BeFree 20031565 Detail
0.205 Hereditary hemochromatosis We describe a novel heterozygous mutation in exon 3 of the HFE-gene that was co-... BeFree 18042412 Detail
0.205 Hereditary hemochromatosis Genetic epidemiology studies of hereditary hemochromatosis (HHC) have shown a hi... BeFree 17058523 Detail
0.360 hemochromatosis Patients with C282Y HFE hemochromatosis also have inappropriately low hepcidin l... BeFree 15486069 Detail
0.003 Thromboembolism Factor V Leiden and the common haemochromatosis mutation HFE C282Y: is there an ... BeFree 10520044 Detail
0.170 Iron Overload Homozygosity for the C282Y mutation of the HFE gene is the main cause of iron ov... BeFree 12790309 Detail
0.001 Hepatitis C, Chronic Heterozygosityfor the C282Y mutation in HFE contributes to iron accumulation and... BeFree 15865084 Detail
0.016 colorectal cancer HFE gene C282Y variant is associated with colorectal cancer in Caucasians: a met... BeFree 23553028 Detail
0.014 Cirrhosis Other recent evidence indicates that the prevalence of HFE gene mutations is inc... BeFree 12957298 Detail
<0.001 Cirrhosis, cryptogenic In this study we analyzed the livers of 50 transplant patients with a diagnosis ... BeFree 11079015 Detail
0.121 hemochromatosis Haptoglobin type neither influences iron accumulation in normal subjects nor pre... BeFree 12846904 Detail
0.360 hemochromatosis Reasons prompting requests for HFE genotype testing and compliance with accepted... BeFree 17874981 Detail
0.044 liver carcinoma Two SNPs (rs1800562 of HFE and rs2279744 of MDM2) were associated with HCC with ... BeFree 21240526 Detail
0.360 hemochromatosis We determined serum ferritin, as a biochemical estimate of iron stores, and the ... BeFree 11901060 Detail
0.360 hemochromatosis Background-Homozygosity for a relatively common Cys282Tyr mutation of the human ... BeFree 10491370 Detail
0.001 liver carcinoma We assessed the influence of Ala16Val-superoxide dismutase 2, Pro198Leu-glutathi... BeFree 20673159 Detail
0.090 liver cirrhosis Hereditary hemochromatosis (HH), most often due to HFE C282Y homozygosity, is an... BeFree 19930418 Detail
0.205 Hereditary hemochromatosis Hereditary hemochromatosis mutation 845A (C282Y) in the HFE gene was recently de... BeFree 9642097 Detail
0.002 Hereditary hemochromatosis It has been postulated that the HFE C282Y mutation (linked to human leukocyte an... BeFree 15740492 Detail
0.019 Iron Overload Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron over... BeFree 12130528 Detail
0.003 IgG Deficiency Common variable immunodeficiency and IgG subclass deficiency in central Alabama ... BeFree 12850493 Detail
0.170 Iron Overload Hereditary Hemochromatosis (HH) is a recessively inherited disorder of iron over... BeFree 24282517 Detail
0.127 Cardiovascular Diseases Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with... GWASCAT 21943158 Detail
0.044 liver carcinoma Hepatocellular carcinoma and the penetrance of HFE C282Y mutations: a cross sect... BeFree 15929796 Detail
0.054 Liver diseases Hereditary hemochromatosis (HH) is a genetic disease associated with iron overlo... BeFree 17904763 Detail
0.170 Iron Overload Although most adult patients with hereditary iron overload are homozygous for th... BeFree 16234038 Detail
0.205 Hereditary hemochromatosis All subjects with HH had C282Y homozygosity, and the normal volunteers lacked an... BeFree 22196777 Detail
0.090 liver cirrhosis The results indicate that HH patients with the HFE C282Y mutation and low number... BeFree 11168438 Detail
0.205 Hereditary hemochromatosis In the UK, 90% of patients with hereditary haemochromatosis (HH) are homozygous ... BeFree 12846904 Detail
0.009 multiple sclerosis Extended haplotype analysis in the HLA complex reveals an increased frequency of... BeFree 15014978 Detail
0.360 hemochromatosis The origin and spread of the HFE-C282Y haemochromatosis mutation. BeFree 15290237 Detail
0.004 Hereditary hemochromatosis HFE is a class-I MHC related protein which carries the C282Y mutation in most pa... BeFree 10756357 Detail
0.205 Hereditary hemochromatosis The most common form of hereditary hemochromatosis is related to homozygosity fo... BeFree 12951308 Detail
0.360 hemochromatosis To identify polymorphisms associated with variability of iron overload severity ... BeFree 25605615 Detail
0.001 arteriosclerosis A prospective study of coronary heart disease and the hemochromatosis gene (HFE)... BeFree 11257277 Detail
0.170 Iron Overload Iron overload in patients with the non-C282Y +/+ genotype is mild to moderate, s... BeFree 9922318 Detail
0.002 Chronic viral hepatitis RESEARCH DESIGN AND METHODS We studied these 16 variables in 159 nonscreening he... BeFree 23990522 Detail
0.205 Hereditary hemochromatosis The presence of C282Y homozygosity in roughly half of the Brazilian patients wit... BeFree 11887210 Detail
<0.001 Non-alcoholic Fatty Liver Disease Lower serum hepcidin and greater parenchymal iron in nonalcoholic fatty liver di... BeFree 22611049 Detail
0.205 Hereditary hemochromatosis Type 1 hereditary hemochromatosis is a common disorder of iron overload occurrin... BeFree 16315134 Detail
0.205 Hereditary hemochromatosis Hereditary hemochromatosis (HH) is a disorder of iron metabolism that leads to i... BeFree 10953958 Detail
0.360 hemochromatosis Predominance of the HLA-H Cys282Tyr mutation in Austrian patients with genetic h... BeFree 9382962 Detail
0.360 hemochromatosis Heterozygotes for the p.Cys282Tyr (C282Y) mutation of the HFE gene do not usuall... BeFree 21228038 Detail
0.205 Hereditary hemochromatosis We studied the relationship between iron removed by venesection, sex, age, and c... BeFree 17639389 Detail
<0.001 hyperhomocysteinemia Assessment of the risk-factor profile revealed an absence of classic risk factor... BeFree 14746432 Detail
0.170 Iron Overload Authors of a recent study identified a mutation in HLA-H gene, C282Y, that is an... BeFree 10785872 Detail
0.205 Hereditary hemochromatosis These data: (i) show that serum Cp and ferroxidase activity are decreased when C... BeFree 11804665 Detail
0.170 Iron Overload The term hemochromatosis should refer to a unique clinicopathologic subset of ir... BeFree 17886335 Detail
0.205 Hereditary hemochromatosis iron accumulation confirmed by magnetic resonance imaging (MRI) in the absence o... BeFree 18079569 Detail
0.007 Coronary Arteriosclerosis A prospective study of coronary heart disease and the hemochromatosis gene (HFE)... BeFree 11257277 Detail
<0.001 campomelic dysplasia We found that HFE C282Y might be associated with a protective role against CMPD. BeFree 19258483 Detail
0.170 Iron Overload Increased incidence of HFE C282Y mutations in patients with iron overload and he... BeFree 10845668 Detail
0.018 diabetes mellitus Testing for HFE mutations in clinics for diabetes, liver disease and cardiovascu... BeFree 12401309 Detail
<0.001 Friedreich ataxia HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreic... BeFree 24390816 Detail
0.010 Iron Metabolism Disorders The homozygous p.C282Y variant of the HFE gene is a major risk factor for heredi... BeFree 17666895 Detail
0.360 hemochromatosis We have examined transferrin receptor-1, ferroportin, ceruloplasmin, ferritin li... BeFree 11783942 Detail
0.005 Iron deficiency Women who inherit heterozygosity for the C282Y mutation of the HFE gene may have... BeFree 10657371 Detail
0.360 hemochromatosis The frequency of PIL, and the HFE gene mutaion (C282Y) are both rare in Indian p... BeFree 21822737 Detail
0.005 Hereditary hemochromatosis Recent studies have shown that hereditary hemochromatosis (HH) is likely to be c... BeFree 9358014 Detail
0.360 hemochromatosis More than 80% of hemochromatosis probands of Northern European descent are homoz... BeFree 15147384 Detail
0.205 Hereditary hemochromatosis There was a significantly higher frequency of coinheritance of the hereditary he... BeFree 10029606 Detail
0.360 hemochromatosis Untreated C282Y homozygous HH patients (n=20) with elevated serum ferritin (SF) ... BeFree 17098454 Detail
0.170 Iron Overload Hereditary hemochromatosis is associated with homozygosity for C282Y mutation in... BeFree 12763366 Detail
0.205 Hereditary hemochromatosis The most common form of HH is caused by mutations in the HFE gene, with most cas... BeFree 20010968 Detail
0.205 Hereditary hemochromatosis Hereditary hemochromatosis is associated with homozygosity for the C282Y mutatio... BeFree 10471457 Detail
0.013 Iron Overload We investigated whether genetic variability within the DMT1 gene may partly expl... BeFree 15223008 Detail
0.094 hyperhomocysteinemia Assessment of the risk-factor profile revealed an absence of classic risk factor... BeFree 14746432 Detail
0.205 Hereditary hemochromatosis This report describes the first functional significance of the C282Y mutation by... BeFree 9162021 Detail
<0.001 Carotid Atherosclerosis Serum ferritin and C282Y mutation of the hemochromatosis gene as predictors of a... BeFree 11108765 Detail
0.003 Diabetes Diabetes in first-degree family members: a predictor of type 2 diabetes in 159 n... BeFree 23990522 Detail
0.054 Liver diseases Duodenal biopsy samples were analyzed using real-time PCR for expression of DMT1... BeFree 19892936 Detail
0.205 Hereditary hemochromatosis A 60-year-old woman with secondary chronic cluster headache had increased serum ... BeFree 12100096 Detail
0.044 liver carcinoma Increased incidence of HFE C282Y mutations in patients with iron overload and he... BeFree 10845668 Detail
0.205 Hereditary hemochromatosis In the absence of known causes for secondary iron overload, the early diagnosis ... BeFree 12028655 Detail
0.205 Hereditary hemochromatosis HFE gene mutation, C282Y causing hereditary hemochromatosis in Caucasian is extr... BeFree 10803694 Detail
0.167 hemochromatosis We have examined transferrin receptor-1, ferroportin, ceruloplasmin, ferritin li... BeFree 11783942 Detail
0.360 hemochromatosis Phenotypic expression of a novel C282Y/R226G compound heterozygous state in HFE ... BeFree 23953397 Detail
0.360 hemochromatosis Non-invasive assessment of liver fibrosis in C282Y homozygous HFE hemochromatosi... BeFree 25495562 Detail
0.002 breast carcinoma HFE C282Y homozygotes have twice the risk of colorectal and breast cancer compar... BeFree 20099304 Detail
0.360 hemochromatosis The most frequent mutation causing hemochromatosis is C282Y in the HFE gene, the... BeFree 11386022 Detail
0.205 Hereditary hemochromatosis Patients with hereditary haemochromatosis (HH) are usually homozygous for the C2... BeFree 14729817 Detail
0.205 Hereditary hemochromatosis Forty-three asymptomatic subjects with HH (C282Y homozygosity in the HFE gene) a... BeFree 16996882 Detail
0.205 Hereditary hemochromatosis This review considered genetic screening for HFE-related hereditary hemochromato... BeFree 16880463 Detail
0.205 Hereditary hemochromatosis He did not carry either of the two common mutations of the HLA-H gene for heredi... BeFree 9462550 Detail
0.090 liver cirrhosis It is less well established that the prevalence of the HFE mutations is increase... BeFree 10980924 Detail
<0.001 hemochromatosis As part of the Healthy Ageing across the Life Course (HALCyon) program, men and ... BeFree 23468552 Detail
0.205 Hereditary hemochromatosis Most adults affected with hereditary hemochromatosis are homozygous for a single... BeFree 23953397 Detail
0.205 Hereditary hemochromatosis Homozygous C282Y mutation in HFE gene is responsible for the majority of heredit... BeFree 22674401 Detail
0.018 diabetes mellitus In patients with clinical hemochromatosis, the frequency of diabetes ranges from... BeFree 11423500 Detail
0.054 Liver diseases We evaluated whether the recently described C282Y mutation of the hemochromatosi... BeFree 9620344 Detail
<0.001 hemochromatosis The first important step toward establishing the role of HFE in the pathogenesis... BeFree 9723005 Detail
0.360 hemochromatosis HFE-related hereditary haemochromatosis (HH) is an iron overload disease attribu... BeFree 18079564 Detail
0.002 colorectal carcinoma Heterozygosity for the Cys282Tyr mutation in the HFE gene and the risk of colore... BeFree 12948285 Detail
<0.001 Anemia, Hemolytic Heterozygosityfor the C282Y mutation in HFE contributes to iron accumulation and... BeFree 15865084 Detail
0.170 Iron Overload Determination of HFE genotype is clinically useful in patients with liver diseas... BeFree 10383365 Detail
0.205 Hereditary hemochromatosis We performed molecular investigation of the genes implicated in hereditary hemoc... BeFree 21228038 Detail
0.090 liver cirrhosis [The finding of iron deposits in routinely obtained liver specimen correlates wi... GAD 18705322 Detail
0.360 hemochromatosis The clinical expression of hemochromatosis in Oslo, Norway. Excessive oral iron ... BeFree 11199371 Detail
0.360 hemochromatosis Our data do not confirm an association of PCT with the Cys282Tyr HFE mutation, s... BeFree 9425935 Detail
0.205 Hereditary hemochromatosis Hereditary hemochromatosis is a common autosomal- recessive disorder of iron ove... BeFree 14720453 Detail
0.205 Hereditary hemochromatosis I propose that hereditary hemochromatosis and in particular the common HFE C282Y... BeFree 17689879 Detail
0.360 hemochromatosis There was 100% concordance of HFE genotype C282Y/C282Y in 6 probands and 8 of th... BeFree 18585964 Detail
0.360 hemochromatosis IVS3 + 1G --&gt; T in the compound heterozygous state with C282Y results in iron... BeFree 10348824 Detail
0.205 Hereditary hemochromatosis Over 80%, of Caucasian patients with hereditary haemochromatosis are homozygotes... BeFree 9753041 Detail
0.205 Hereditary hemochromatosis Homozygosity for a C282Y mutation in the hemochromatosis (HFE) gene is the under... BeFree 9836708 Detail
0.200 HEMOCHROMATOSIS, TYPE 1 An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (... UNIPROT 18157833 Detail
0.146 hemochromatosis Human hemochromatosis (HC) has been associated with the common C282Y polymorphis... BeFree 20863724 Detail
0.003 Non-alcoholic Fatty Liver Disease Lower serum hepcidin and greater parenchymal iron in nonalcoholic fatty liver di... BeFree 22611049 Detail
0.090 liver cirrhosis PCSK7 variant rs236918 is a risk factor for cirrhosis in HH patients homozygous ... BeFree 24556216 Detail
0.170 Iron Overload The C282Y HFE variant is more commonly associated with hereditary hemochromatosi... BeFree 21346098 Detail
0.022 iron deficiency anemia The protective effect of the heterozygous genotype for HFE C282Y mutation agains... BeFree 19747287 Detail
0.090 liver cirrhosis Most clinical cases are homozygous for the Cys282Tyr (C282Y) mutation in the HFE... BeFree 20583211 Detail
0.360 hemochromatosis Although liver biopsy has been the standard diagnostic test for hemochromatosis,... BeFree 10980923 Detail
0.360 hemochromatosis In hemochromatosis probands with HFE C282Y/C282Y, survival was longer in those w... BeFree 20722701 Detail
0.205 Hereditary hemochromatosis Hereditary hemochromatosis (HH) is one of the most common autosomal recessive di... BeFree 12537659 Detail
0.360 hemochromatosis HLA haplotype A*03-B*07 in hemochromatosis probands with HFE C282Y homozygosity:... BeFree 15607698 Detail
0.360 hemochromatosis We studied 214 patients with hemochromatosis who were homozygous for the C282Y s... BeFree 16344062 Detail
0.170 Iron Overload The prevalences of reports of iron overload-associated abnormalities were not si... BeFree 17949288 Detail
0.014 Cirrhosis It is less well established that the prevalence of the HFE mutations is increase... BeFree 10980924 Detail
0.360 hemochromatosis Clinical expression of C282Y homozygous HFE haemochromatosis at 14 years of age. BeFree 16704763 Detail
0.002 breast carcinoma C282Y polymorphism in the HFE gene is associated with risk of breast cancer. BeFree 23681799 Detail
0.170 Iron Overload [The role of iron overload and HFE gene mutations in the era of pegylated interf... GAD 20190684 Detail
0.205 Hereditary hemochromatosis The mutation responsible for 83% of HH (C260Y) results in the failure of HFE to ... BeFree 11260522 Detail
0.170 Iron Overload Frequency of the S65C mutation of HFE and iron overload in 309 subjects heterozy... BeFree 11943417 Detail
0.170 Iron Overload Homozygosity for the C282Y mutation of the hemochromatosis gene on chromosome 6p... BeFree 17002922 Detail
0.205 Hereditary hemochromatosis An arthropathy considered typical for HH, involving metacarpophalangeal joints 2... BeFree 20954257 Detail
0.360 hemochromatosis The patient was heterozygous for HFE gene C282Y mutation (type I hemochromatosis... BeFree 17852457 Detail
0.003 hepatic veno-occlusive disease We conclude that HFE C282Y is a risk factor for HVOD and that CPS polymorphisms ... BeFree 15834437 Detail
0.014 Cirrhosis In hemochromatosis probands homozygous for HFE C282Y, serum levels of ferritin g... BeFree 22265917 Detail
0.010 Malignant neoplasm of breast In addition to hepatocellular cancer, HFE C282Y homozygotes are reported to have... BeFree 23281741 Detail
0.170 Iron Overload Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy fo... BeFree 21228038 Detail
0.360 hemochromatosis Iron absorption by heterozygous carriers of the HFE C282Y mutation associated wi... BeFree 15447900 Detail
<0.001 hemochromatosis As part of the Healthy Ageing across the Life Course (HALCyon) program, men and ... BeFree 23468552 Detail
0.170 Iron Overload Population studies have revealed (i) the serum transferrin saturation is strongl... BeFree 12401309 Detail
0.360 hemochromatosis High frequencies of the haemochromatosis-related HFE C282Y mutation have been re... BeFree 9609537 Detail
<0.001 Chronic myeloproliferative disorder HFE C282Y mutation as a genetic modifier influencing disease susceptibility for ... BeFree 19258483 Detail
0.360 hemochromatosis Serum hepcidin levels are innately low in HFE-related haemochromatosis but diffe... BeFree 18557745 Detail
0.170 Iron Overload Serial serum ferritin measurements in untreated HFE C282Y homozygotes in the Hem... BeFree 18665827 Detail
0.205 Hereditary hemochromatosis The same analysis was done in a group of 45 patients with HH who were homozygous... BeFree 15642666 Detail
0.016 myocardial infarction C282Y mutation in the HLA-H gene is not a risk factor for patients with myocardi... BeFree 10785872 Detail
<0.001 hemochromatosis SNPs at ARNTL, TF, and TFR2 affect iron markers in HFE C282Y homozygotes at risk... BeFree 25352340 Detail
0.205 Hereditary hemochromatosis The natural history of serum iron indices for HFE C282Y homozygosity associated ... BeFree 18848943 Detail
0.170 Iron Overload The demonstration of IVS3 +1G --&gt; T highlights the possibility of other rare ... BeFree 10348824 Detail
0.170 Iron Overload We performed PCR-based analysis for the haemochromatosis-related HFE C282Y mutat... BeFree 9753042 Detail
0.002 Chronic viral hepatitis It is less well established that the prevalence of the HFE mutations is increase... BeFree 10980924 Detail
<0.001 Iron Overload Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies ... BeFree 25605615 Detail
0.016 colorectal cancer In addition to hepatocellular cancer, HFE C282Y homozygotes are reported to have... BeFree 23281741 Detail
0.205 Hereditary hemochromatosis Most HH is due to homozygosity for the HFE p.C282Y substitution. BeFree 23121079 Detail
0.096 Alcoholic Liver Diseases It is less well established that the prevalence of the HFE mutations is increase... BeFree 10980924 Detail
0.002 neuroblastoma C282Y-HFE gene variant affects cholesterol metabolism in human neuroblastoma cel... BeFree 24533143 Detail
0.090 liver cirrhosis Other recent evidence indicates that the prevalence of HFE gene mutations is inc... BeFree 12957298 Detail
0.170 Iron Overload In the UK approximately 1 in 140 people are homozygous for the C282Y mutation of... BeFree 10764716 Detail
<0.001 Fibrosis, Liver Genetic loci associated with iron metabolism (TF, TMPRSS6, PCSK7, TFR2 and Chr2p... BeFree 24556216 Detail
0.360 hemochromatosis The aim of this study was to reassess the phenotypic diagnostic criteria for hem... BeFree 9453492 Detail
0.002 colorectal carcinoma In addition to hepatocellular cancer, HFE C282Y homozygotes are reported to have... BeFree 23281741 Detail
<0.001 HFE-Associated Hereditary Hemochromatosis In populations of northern European descent, the p.C282Y mutation in the HFE gen... BeFree 19444013 Detail
0.360 hemochromatosis Diabetes in first-degree family members: a predictor of type 2 diabetes in 159 n... BeFree 23990522 Detail
0.005 Iron deficiency Iron absorption is decreased in some patients with hemochromatosis and HFE C282Y... BeFree 15603661 Detail
0.170 Iron Overload The main objective of this work was to study the role of variants in the SLC40A1... BeFree 18820912 Detail
0.360 hemochromatosis The low prevalence of the C282Y mutation of the HFE gene in Japan means that the... BeFree 15749661 Detail
0.360 hemochromatosis High incidence of the Cys 282 Tyr mutation in the HFE gene in the Irish populati... BeFree 9864039 Detail
0.170 Iron Overload We investigated whether genetic variability within the DMT1 gene may partly expl... BeFree 15223008 Detail
0.013 arthritis Hereditary hemochromatosis (HH) is a genetic disease associated with iron overlo... BeFree 17904763 Detail
0.205 Hereditary hemochromatosis Homozygosity for a cysteine to tyrosine translocation at position 282 within the... BeFree 15223008 Detail
0.016 leukemia Given the population frequency of C282Y and the connection between iron and canc... BeFree 15775751 Detail
0.001 Leukemia, Myelocytic, Acute The divergent frequencies observed for the C282Y mutation in patients with AML a... BeFree 11836162 Detail
0.205 Hereditary hemochromatosis To evaluate this topic, 43 asymptomatic subjects with HH homozygous for the C282... BeFree 16923464 Detail
0.205 Hereditary hemochromatosis Most hereditary hemochromatosis (HH) patients are homozygous for the C282Y mutat... BeFree 19214511 Detail
0.010 Malignant neoplasm of breast C282Y polymorphism in the HFE gene is associated with risk of breast cancer. BeFree 23681799 Detail
0.003 Hypertension, Portal A 57-year-old white woman had serum ferritin 793 ng/mL, HFE C282Y homozygosity, ... BeFree 19440063 Detail
0.205 Hereditary hemochromatosis Penetrance of 845G--&gt; A (C282Y) HFE hereditary haemochromatosis mutation in t... BeFree 11812557 Detail
<0.001 Anemia, Hemolytic We performed PCR-based analysis for the haemochromatosis-related HFE C282Y mutat... BeFree 9753042 Detail
0.170 Iron Overload [A French Mediterranean regional hemochromatosis registry with strict inclusion ... GAD 20145272 Detail
<0.001 Healing ulcer This study was conducted to investigate the role of HFE-C282Y and FXIII (V34L an... BeFree 16950433 Detail
0.004 Fibrosis, Liver Other recent evidence indicates that the prevalence of HFE gene mutations is inc... BeFree 12957298 Detail
0.014 Cirrhosis PCSK7 variant rs236918 is a risk factor for cirrhosis in HH patients homozygous ... BeFree 24556216 Detail
0.026 Coronary heart disease Curaçao patients with coronary artery disease have a higher prevalence of the HF... BeFree 15352740 Detail
0.205 Hereditary hemochromatosis Porphyria cutanea tarda associated with Cys282Tyr mutation in HFE gene in heredi... BeFree 18189029 Detail
<0.001 Leukemia, Lymphocytic, Acute, L1 The most common mutation of the HFE gene C282Y has shown a risk association with... BeFree 19806355 Detail
0.170 Iron Overload Hereditary hemochromatosis (HH), most often due to HFE C282Y homozygosity, is an... BeFree 19930418 Detail
0.360 hemochromatosis Iron absorption is decreased in some patients with hemochromatosis and HFE C282Y... BeFree 15603661 Detail
<0.001 Glioma Both the human neuroblastoma and glioma cells that express the C282Y HFE variant... BeFree 21190189 Detail
0.360 hemochromatosis The term hemochromatosis should refer to a unique clinicopathologic subset of ir... BeFree 17886335 Detail
0.360 hemochromatosis HFE is a class-I MHC related protein which carries the C282Y mutation in most pa... BeFree 10756357 Detail
0.127 Cardiovascular Diseases Testing for HFE mutations in clinics for diabetes, liver disease and cardiovascu... BeFree 12401309 Detail
<0.001 Hereditary hemochromatosis The data show that expression of C282Y HFE triggers a stress-protective response... BeFree 18045552 Detail
0.205 Hereditary hemochromatosis A PCR-SSP method for detecting the Cys282Tyr mutation in the HFE gene associated... BeFree 9497921 Detail
0.014 Cirrhosis Except for C282Y homozygotes, HFE gene mutations do not increase the risk to dev... BeFree 12591066 Detail
0.146 hemochromatosis SNPs at ARNTL, TF, and TFR2 affect iron markers in HFE C282Y homozygotes at risk... BeFree 25352340 Detail
0.170 Iron Overload Most patients are homozygous for the c.845G&gt;A (p.C282Y) mutation in the HFE g... BeFree 22890139 Detail
0.170 hemochromatosis Mutations in HAMP and HJV genes and their impact on expression of clinical hemoc... BeFree 19214511 Detail
0.360 hemochromatosis Absence of hemochromatosis associated Cys282Tyr HFE gene mutation and low freque... BeFree 14675248 Detail
0.090 liver cirrhosis [Iron overload was frequently detected in patients with CHC, and was associated ... GAD 20190684 Detail
0.360 hemochromatosis Thyroid-stimulating hormone and free thyroxine levels in persons with HFE C282Y ... BeFree 18651828 Detail
0.003 Diabetes In patients with clinical hemochromatosis, the frequency of diabetes ranges from... BeFree 11423500 Detail
0.205 Hereditary hemochromatosis Homozygosity for the C282Y mutation of the HFE gene is the main cause of iron ov... BeFree 12790309 Detail
0.170 Iron Overload Low levels of hepcidin are responsible for the development of iron overload in p... BeFree 19286879 Detail
<0.001 Hypertension, Portal A 57-year-old white woman had serum ferritin 793 ng/mL, HFE C282Y homozygosity, ... BeFree 19440063 Detail
0.360 hemochromatosis Serial serum ferritin measurements in untreated HFE C282Y homozygotes in the Hem... BeFree 18665827 Detail
0.002 breast carcinoma In addition to hepatocellular cancer, HFE C282Y homozygotes are reported to have... BeFree 23281741 Detail
0.205 Hereditary hemochromatosis The C282Y mutation on the HFE gene accounts for most cases of HH; however, other... BeFree 18424348 Detail
0.205 Hereditary hemochromatosis An accurate determination of the major HFE mutation (C282Y), which is associated... BeFree 11017930 Detail
0.170 Iron Overload The study shows that from a population of patients in whom a routine liver funct... BeFree 16644885 Detail
0.360 hemochromatosis In HFE-related haemochromatosis, a large proportion of C282Y homozygotes, especi... BeFree 16139917 Detail
0.090 liver cirrhosis In HCV-infected patients, heterozygosity for the C282Y mutation in HFE was signi... BeFree 14557859 Detail
<0.001 Iron Overload Duodenal biopsy samples were analyzed using real-time PCR for expression of DMT1... BeFree 19892936 Detail
0.003 Non-alcoholic Fatty Liver Disease RESEARCH DESIGN AND METHODS We studied these 16 variables in 159 nonscreening he... BeFree 23990522 Detail
0.090 liver cirrhosis In hemochromatosis probands homozygous for HFE C282Y, serum levels of ferritin g... BeFree 22265917 Detail
0.066 Hepatitis C, Chronic Heterozygosity for the C282Y mutation in HFE contributes to iron accumulation an... BeFree 14557859 Detail
0.090 liver cirrhosis Heavy HIOL was noted in C282Y homozygotes and 1 patient with cirrhosis without e... BeFree 12109859 Detail
0.205 Hereditary hemochromatosis Consequently, we propose that HH associated with the C282Y HFE mutation should b... BeFree 17904763 Detail
0.205 Hereditary hemochromatosis Although most cases of hereditary haemochromatosis are associated with homozygos... BeFree 16174659 Detail
0.205 Hereditary hemochromatosis HFE C282Y homozygotes without phenotypic expression do not have significantly de... BeFree 19892936 Detail
0.026 Coronary heart disease A prospective study of coronary heart disease and the hemochromatosis gene (HFE)... BeFree 11257277 Detail
0.011 coronary artery disease Curaçao patients with coronary artery disease have a higher prevalence of the HF... BeFree 15352740 Detail
0.360 hemochromatosis Clinical penetrance of C282Y homozygous HFE hemochromatosis. BeFree 21082925 Detail
<0.001 Homocysteinemia Assessment of the risk-factor profile revealed an absence of classic risk factor... BeFree 14746432 Detail
0.205 Hereditary hemochromatosis Future investigations will refine our knowledge of the mechanisms of action of H... BeFree 12064862 Detail
0.122 Hemoglobin Adverse Event Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. GWASCAT 19862010 Detail
0.014 Cirrhosis We assessed the influence of Ala16Val-superoxide dismutase 2, Pro198Leu-glutathi... BeFree 20673159 Detail
0.170 Iron Overload Since the discovery of the HFE gene in 1996, it has been possible to predict the... BeFree 19907150 Detail
<0.001 liver cirrhosis We assessed the influence of Ala16Val-superoxide dismutase 2, Pro198Leu-glutathi... BeFree 20673159 Detail
0.205 Hereditary hemochromatosis Hereditary hemochromatosis is a common-recessive-autosomal disease characterized... BeFree 21412944 Detail
0.360 hemochromatosis After the 1996 identification of the main causative gene HFE and confirmation th... BeFree 16132052 Detail
0.205 Hereditary hemochromatosis HFE has been amongst the preferred targets of interest, since the discovery that... BeFree 18053083 Detail
0.007 Hereditary hemochromatosis The mutation responsible for 83% of HH (C260Y) results in the failure of HFE to ... BeFree 11260522 Detail
0.016 colorectal cancer HFE C282Y homozygotes are at increased risk of breast and colorectal cancer. BeFree 20099304 Detail
0.004 Fibrosis, Liver Genetic loci associated with iron metabolism (TF, TMPRSS6, PCSK7, TFR2 and Chr2p... BeFree 24556216 Detail
0.360 hemochromatosis The impact of HFE on iron transport was examined in B-lymphoid cell lines develo... BeFree 11313265 Detail
<0.001 hemochromatosis As part of the Healthy Ageing across the Life Course (HALCyon) program, men and ... BeFree 23468552 Detail
0.122 Hematocrit level Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. GWASCAT 19862010 Detail
0.360 hemochromatosis The C282Y mutation in the HFE gene is the main mutation causing hemochromatosis,... BeFree 9851897 Detail
0.170 Iron Overload A study of 82 extended HLA haplotypes in HFE-C282Y homozygous hemochromatosis su... BeFree 16509978 Detail
0.205 Hereditary hemochromatosis Since his serum ferritin was 3249 ng/mL, genetic testing for hereditary hemochro... BeFree 11688350 Detail
0.170 Iron Overload It has, however, rapidly become clear that the HFE C282Y mutation is not the sol... BeFree 20843199 Detail
0.008 celiac disease Occult CD may compensate for increased DMT1 expression in a specific subset of i... BeFree 15929194 Detail
0.360 hemochromatosis Here we report a 33-years-old woman with hereditary spherocytosis and hemochroma... BeFree 19380292 Detail
0.066 Hepatitis C, Chronic [The role of iron overload and HFE gene mutations in the era of pegylated interf... GAD 20190684 Detail
0.205 Hereditary hemochromatosis Background-Homozygosity for a relatively common Cys282Tyr mutation of the human ... BeFree 10491370 Detail
0.170 Iron Overload There was 100% concordance of HFE genotype C282Y/C282Y in 6 probands and 8 of th... BeFree 18585964 Detail
0.205 Hereditary hemochromatosis Hereditary Hemochromatosis (HH) is a recessively inherited disorder of iron over... BeFree 24282517 Detail
0.170 Iron Overload Genetic hemochromatosis (GH) is an iron overload disorder mainly due to the C282... BeFree 15928800 Detail
0.360 hemochromatosis Over the last decade, the finding of a relatively high prevalence of the C282Y p... BeFree 15737885 Detail
0.205 Hereditary hemochromatosis We evaluated whether the recently described C282Y mutation of the hemochromatosi... BeFree 9620344 Detail
0.205 Hereditary hemochromatosis Hereditary hemochromatosis (HH) due to homozygosity for the C282Y mutation in th... BeFree 24319245 Detail
0.205 Hereditary hemochromatosis C282Y is the most frequent HFE gene mutation causing HH in Northern European pop... BeFree 15727249 Detail
0.003 Thrombocythemia, Essential The divergent frequencies observed for the C282Y mutation in patients with AML a... BeFree 11836162 Detail
0.170 Iron Overload The CD8+ T-lymphocyte profile as a modifier of iron overload in HFE hemochromato... BeFree 16762569 Detail
0.004 Iron Overload We investigated whether genetic variability within the DMT1 gene may partly expl... BeFree 15223008 Detail
<0.001 liver cirrhosis Genetic loci associated with iron metabolism (TF, TMPRSS6, PCSK7, TFR2 and Chr2p... BeFree 24556216 Detail
<0.001 hemochromatosis As part of the Healthy Ageing across the Life Course (HALCyon) program, men and ... BeFree 23468552 Detail
0.002 colorectal carcinoma HFE C282Y homozygotes are at increased risk of breast and colorectal cancer. BeFree 20099304 Detail
0.146 Homocysteinemia Assessment of the risk-factor profile revealed an absence of classic risk factor... BeFree 14746432 Detail
0.170 Iron Overload Based on this hypothesis, we identified a heterozygous nc.-153 C&gt;T mutation i... BeFree 19286879 Detail
0.360 hemochromatosis A previously undescribed frameshift deletion mutation of HFE (c.del277; G93fs) a... BeFree 15324319 Detail
0.205 Hereditary hemochromatosis Hereditary hemochromatosis (HH) is a genetic iron overload disease, in the major... BeFree 16140024 Detail
0.005 Hereditary hemochromatosis The presence of C282Y homozygosity in roughly half of the Brazilian patients wit... BeFree 11887210 Detail
0.007 Coronary Arteriosclerosis Curaçao patients with coronary artery disease have a higher prevalence of the HF... BeFree 15352740 Detail
0.205 Hereditary hemochromatosis The discovery of a genetic test for hereditary hemochromatosis has identified ma... BeFree 15017658 Detail
0.004 Iron Overload We investigated whether genetic variability within the DMT1 gene may partly expl... BeFree 15223008 Detail
0.014 Cirrhosis Heavy HIOL was noted in C282Y homozygotes and 1 patient with cirrhosis without e... BeFree 12109859 Detail
0.360 hemochromatosis The first important step toward establishing the role of HFE in the pathogenesis... BeFree 9723005 Detail
0.337 hyperhomocysteinemia Assessment of the risk-factor profile revealed an absence of classic risk factor... BeFree 14746432 Detail
0.360 hemochromatosis HFE gene mutation (C282Y) and phenotypic expression among a hospitalised populat... BeFree 10986220 Detail
0.360 hemochromatosis To test whether genetic haemochromatosis is associated with increased atheroscle... BeFree 9753040 Detail
0.360 hemochromatosis 5569G/A polymorphism of the HFE gene: no implications for C282Y genotyping in a ... BeFree 10953954 Detail
<0.001 Factor V Leiden mutation This study does not support the hypothesis that the C282Y allele is an additiona... BeFree 10233369 Detail
0.360 hemochromatosis We characterized HFE C282Y homozygotes aged 25-29 years in the HEmochromatosis a... BeFree 17949288 Detail
0.360 hemochromatosis The purpose of this study was to assess the level of satisfaction and understand... BeFree 18939938 Detail
0.005 Iron deficiency However, high-level expression of a liver-specific Hfe transgene carrying the mo... BeFree 20837779 Detail
0.205 Hereditary hemochromatosis However, the clinical significance of HFE mutations remains uncertain, as is the... BeFree 12436244 Detail
0.360 hemochromatosis Uncommon HFE mutations resulting in phenotypic hemochromatosis among C282Y heter... BeFree 22395570 Detail
0.018 diabetes mellitus Diabetes in first-degree family members: a predictor of type 2 diabetes in 159 n... BeFree 23990522 Detail
0.170 Iron Overload Hemochromatosis is a common disorder of iron overload most commonly due to homoz... BeFree 23098241 Detail
0.205 Hereditary hemochromatosis Genetic testing for the C282Y mutation of the HFE gene has been a major advance ... BeFree 11001800 Detail
0.205 Hereditary hemochromatosis The aim of this new meta-analysis (to the end of 2002) is to compile the Y allel... BeFree 12972035 Detail
0.141 Iron Overload The main objective of this work was to study the role of variants in the SLC40A1... BeFree 18820912 Detail
<0.001 Hereditary sideroblastic anemia There was a significantly higher frequency of coinheritance of the hereditary he... BeFree 10029606 Detail
0.360 hemochromatosis Authors of a recent study identified a mutation in HLA-H gene, C282Y, that is an... BeFree 10785872 Detail
0.205 Hereditary hemochromatosis The C282Y mutation of the HFE gene has been reported to be present in most of th... BeFree 11005145 Detail
<0.001 congenital dyserythropoietic anemia To the authors' knowledge, this is the first report of homozygosity for the C282... BeFree 11071669 Detail
0.170 Iron Overload Reasons prompting requests for HFE genotype testing and compliance with accepted... BeFree 17874981 Detail
0.360 hemochromatosis Mutations in HAMP and HJV genes and their impact on expression of clinical hemoc... BeFree 19214511 Detail
0.205 Hereditary hemochromatosis Therefore, further efforts to characterize the unscreened part of the HFE gene o... BeFree 10953957 Detail
0.014 Cirrhosis Patients with HH carrying the HFE gene who were homozygous for the Cys282Tyr mut... BeFree 20814896 Detail
0.066 Hepatitis C, Chronic [The finding of iron deposits in routinely obtained liver specimen correlates wi... GAD 18705322 Detail
0.005 Iron deficiency Among euthyroid white adults without iron deficiency, there are significant corr... BeFree 19706067 Detail
0.170 Iron Overload Genetic iron overload has long been confined to the classical type 1 hemochromat... BeFree 24321703 Detail
0.205 Hereditary hemochromatosis As for Fe, the Zn isotopic composition exhibited a tendency toward lower levels ... BeFree 16240673 Detail
0.008 atherosclerosis A prospective study of coronary heart disease and the hemochromatosis gene (HFE)... BeFree 11257277 Detail
0.003 hemochromatosis Factor V Leiden and the common haemochromatosis mutation HFE C282Y: is there an ... BeFree 10520044 Detail
0.170 hemochromatosis Human hemochromatosis (HC) has been associated with the common C282Y polymorphis... BeFree 20863724 Detail
0.205 Hereditary hemochromatosis Hereditary hemochromatosis (HH) is classically associated with a Cys282Tyr (C282... BeFree 12130528 Detail
0.170 Iron Overload Hereditary hemochromatosis (HH) due to homozygosity for the C282Y mutation in th... BeFree 24319245 Detail
0.170 Iron Overload All HFE C282Y carriers presented significantly lower serum transferrin levels th... BeFree 16140024 Detail
<0.001 Anemia, Hemolytic This report discusses the pathophysiology of iron accumulation in patients with ... BeFree 19380292 Detail
0.360 hemochromatosis We performed PCR-based analysis for the haemochromatosis-related HFE C282Y mutat... BeFree 9753042 Detail
0.205 Hereditary hemochromatosis The recent discovery of a specific homozygous mutation (C282Y) in a novel major ... BeFree 9576576 Detail
0.360 hemochromatosis Determinants and characteristics of mean corpuscular volume and hemoglobin conce... BeFree 17597476 Detail
0.167 hemochromatosis Mutations in HAMP and HJV genes and their impact on expression of clinical hemoc... BeFree 19214511 Detail
0.360 hemochromatosis Over 90% of patients with hemochromatosis in the United Kingdom are homozygous f... BeFree 10953948 Detail
0.002 Virus Diseases The prevalence of HFE C282Y gene mutation is increased in Spanish patients with ... BeFree 17062032 Detail
0.066 Hepatitis C, Chronic Other recent evidence indicates that the prevalence of HFE gene mutations is inc... BeFree 12957298 Detail
0.161 hepatitis C In this study we analyzed the livers of 50 transplant patients with a diagnosis ... BeFree 11079015 Detail
0.170 Iron Overload At univariate analysis, iron overload was significantly associated with both HFE... BeFree 11500061 Detail
0.170 Iron Overload The mild iron overload associated with heterozygosity for C282Y HFE mutation con... BeFree 12779071 Detail
0.003 Nonalcoholic Steatohepatitis HFE C282Y mutations are associated with advanced hepatic fibrosis in Caucasians ... BeFree 17680648 Detail
0.011 arthropathy RESEARCH DESIGN AND METHODS We studied these 16 variables in 159 nonscreening he... BeFree 23990522 Detail
0.006 Iron Overload In hemochromatosis probands with HFE C282Y homozygosity, we conclude that (1) di... BeFree 15607698 Detail
0.054 Liver diseases Among men, C282Y homozygotes and compound heterozygotes were more likely to repo... BeFree 15858186 Detail
0.360 hemochromatosis HFE C282Y homozygosity is associated with lower total and low-density lipoprotei... BeFree 20031565 Detail
0.123 liver carcinoma We assessed the influence of Ala16Val-superoxide dismutase 2, Pro198Leu-glutathi... BeFree 20673159 Detail
0.205 Hereditary hemochromatosis After the main hereditary hemochromatosis mutation C282Y in the HFE gene was des... BeFree 11500066 Detail
0.003 arthropathy RESEARCH DESIGN AND METHODS We studied these 16 variables in 159 nonscreening he... BeFree 23990522 Detail
0.050 Diabetes Mellitus, Non-Insulin-Dependent Patients with type 2 diabetes have a high frequency of the C282Y mutation of the... BeFree 9885759 Detail
0.167 hemochromatosis Serum hepcidin levels are innately low in HFE-related haemochromatosis but diffe... BeFree 18557745 Detail
0.360 hemochromatosis HFE-related (type 1) hemochromatosis remains the most frequent form, characteriz... BeFree 25064704 Detail
<0.001 Cirrhosis PCSK7 variant rs236918 is a risk factor for cirrhosis in HH patients homozygous ... BeFree 24556216 Detail
0.161 hepatitis C The prevalence of HFE C282Y gene mutation is increased in Spanish patients with ... BeFree 17062032 Detail
0.019 Iron Overload The term hemochromatosis should refer to a unique clinicopathologic subset of ir... BeFree 17886335 Detail
0.301 porphyria cutanea tarda The prevalence of HFE C282Y gene mutation is increased in Spanish patients with ... BeFree 17062032 Detail
0.170 Iron Overload Hereditary hemochromatosis is a common autosomal- recessive disorder of iron ove... BeFree 14720453 Detail
0.090 liver cirrhosis Patients with HH carrying the HFE gene who were homozygous for the Cys282Tyr mut... BeFree 20814896 Detail
0.205 Hereditary hemochromatosis Increased capacity of lymphocytes from hereditary hemochromatosis patients homoz... BeFree 19146986 Detail
0.170 Iron Overload Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies ... BeFree 25605615 Detail
0.360 hemochromatosis Haptoglobin type neither influences iron accumulation in normal subjects nor pre... BeFree 12846904 Detail
0.022 liver carcinoma Two SNPs (rs1800562 of HFE and rs2279744 of MDM2) were associated with HCC with ... BeFree 21240526 Detail
<0.001 Fibrosis, Liver Genetic loci associated with iron metabolism (TF, TMPRSS6, PCSK7, TFR2 and Chr2p... BeFree 24556216 Detail
0.360 hemochromatosis From a literature survey, the calculated hemochromatosis allele frequencies from... BeFree 12568299 Detail
0.122 Hemoglobin Adverse Event [Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.] GAD 19862010 Detail
<0.001 Hereditary hemochromatosis These data: (i) show that serum Cp and ferroxidase activity are decreased when C... BeFree 11804665 Detail
0.002 hemochromatosis HFE is a class-I MHC related protein which carries the C282Y mutation in most pa... BeFree 10756357 Detail
0.011 arthropathy An arthropathy considered typical for HH, involving metacarpophalangeal joints 2... BeFree 20954257 Detail
0.005 Iron deficiency Heterozygosity for the C282Y mutation in the hemochromatosis gene is associated ... BeFree 9836708 Detail
0.170 Iron Overload HLA haplotype A*03-B*07 in hemochromatosis probands with HFE C282Y homozygosity:... BeFree 15607698 Detail
0.205 Hereditary hemochromatosis Hereditary hemochromatosis (HH), most often due to HFE C282Y homozygosity, is an... BeFree 19930418 Detail
0.360 hemochromatosis SNPs at ARNTL, TF, and TFR2 affect iron markers in HFE C282Y homozygotes at risk... BeFree 25352340 Detail
0.005 Iron deficiency Iron deficiency and frequency of HFE C282Y gene mutation in Brazilian blood dono... BeFree 19747287 Detail
0.122 Hematocrit level [Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.] GAD 19862010 Detail
0.005 Iron deficiency In conclusion, the combination of high red meat consumption, low menstrual blood... BeFree 24663082 Detail
0.360 hemochromatosis In the third study (2002), 371 C282Y-homozygous relatives of patients with HFE-a... BeFree 12957297 Detail
0.205 Hereditary hemochromatosis Homozygosity for HFE C282Y is the predominant genetic risk factor for hereditary... BeFree 24556216 Detail
0.001 Sporadic porphyria cutanea tarda S65C, C282Y), and in a case control study we searched for an association between... BeFree 11929045 Detail
0.010 Malignant neoplasm of breast HFE C282Y homozygotes have twice the risk of colorectal and breast cancer compar... BeFree 20099304 Detail
0.205 Hereditary hemochromatosis most hereditary hemochromatosis (HH) patients are homozygous for the p.C282Y mut... BeFree 21039223 Detail
0.002 Homocysteinemia Assessment of the risk-factor profile revealed an absence of classic risk factor... BeFree 14746432 Detail
0.044 liver carcinoma HFE C282Y heterozygosity in hepatocellular carcinoma: evidence for an increased ... BeFree 15017669 Detail
0.050 Diabetes Mellitus, Non-Insulin-Dependent Diabetes in first-degree family members: a predictor of type 2 diabetes in 159 n... BeFree 23990522 Detail
0.018 diabetes mellitus Chart reviews were performed on a cohort of adults (age ≥40, N = 101) with the c... BeFree 25044717 Detail
0.205 Hereditary hemochromatosis The C282Y HFE variant is more commonly associated with hereditary hemochromatosi... BeFree 21346098 Detail
0.301 porphyria cutanea tarda Porphyria cutanea tarda associated with Cys282Tyr mutation in HFE gene in heredi... BeFree 18189029 Detail
0.010 Varicose Ulcer Recently, the HFE-C282Y and FXIII-V34L gene variants demonstrated a role in the ... BeFree 16950433 Detail
0.170 Iron Overload Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron over... BeFree 12130528 Detail
0.170 Iron Overload Hereditary hemochromatosis is associated with homozygosity for the C282Y mutatio... BeFree 10471457 Detail
0.002 colorectal carcinoma HFE gene C282Y variant is associated with colorectal cancer in Caucasians: a met... BeFree 23553028 Detail
0.205 Hereditary hemochromatosis He was also found to be heterozygous for the cys282tyr mutation of the HFE gene,... BeFree 9732941 Detail
0.021 Degenerative polyarthritis This is the first report to show an increased risk of OA among individuals who a... BeFree 12508400 Detail
0.205 Hereditary hemochromatosis In all 3 cases a homozygous C282Y mutation in the HFE gene was detected and live... BeFree 12508413 Detail
0.205 Hereditary hemochromatosis The discovery of the HFE gene and the frequency of the single C282Y mutation as ... BeFree 10694284 Detail
0.146 hemochromatosis The term hemochromatosis should refer to a unique clinicopathologic subset of ir... BeFree 17886335 Detail
0.014 Cirrhosis RESEARCH DESIGN AND METHODS We studied these 16 variables in 159 nonscreening he... BeFree 23990522 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.845G>A (p.Cys282Tyr) AND Hemochromatosis type 1 ClinVar Detail
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) AND not provided ClinVar Detail
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) AND Hereditary hemochromatosis ClinVar Detail
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) AND multiple conditions ClinVar Detail
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) AND Bronze diabetes ClinVar Detail
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) AND multiple conditions ClinVar Detail
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) AND Cardiomyopathy ClinVar Detail
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) AND HFE-related disorder ClinVar Detail
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) AND Inborn genetic diseases ClinVar Detail
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) AND multiple conditions ClinVar Detail
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) AND multiple conditions ClinVar Detail
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) AND multiple conditions ClinVar Detail
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) AND multiple conditions ClinVar Detail
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) AND multiple conditions ClinVar Detail
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) AND multiple conditions ClinVar Detail
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) AND Juvenile hemochromatosis ClinVar Detail
Six SNPs of five genes (rs1800562 of HFE, rs17868323 and rs11692021 of UGT1A7, rs2279744 of MDM2, rs... DisGeNET Detail
Six SNPs of five genes (rs1800562 of HFE, rs17868323 and rs11692021 of UGT1A7, rs2279744 of MDM2, rs... DisGeNET Detail
Six SNPs of five genes (rs1800562 of HFE, rs17868323 and rs11692021 of UGT1A7, rs2279744 of MDM2, rs... DisGeNET Detail
Clinical expression of hemochromatosis was assessed as a function of TLR4, TLR9, and NOD2 polymorphi... 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
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
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
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
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 aims of this study were: 1) To determine the prevalence of the hemochromatosis associated mutati... DisGeNET Detail
In the present work, we have determined the HFE genotypes for C282Y and H63D in subjects from two ca... 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
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
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
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
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 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
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
The finding of a similar prevalence of Cys282Tyr and His63Asp mutations in the HFE gene among contro... 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
Clinical relevance of hemochromatosis-related HFE C282Y/H63D gene mutations in patients on chronic d... DisGeNET Detail
The HFE p.C282Y in homozygosity or in heterozygosity with p.H63D was the most frequent mutation asso... 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
Mutation of the hemochromatosis gene (C282Y and/or H63D) was diagnosed in 16 (55.2%) patients with n... 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
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
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
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
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
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
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
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
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
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
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 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
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
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
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
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
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
This study aims to determine whether the two major mutations of the haemochromatosis (HFE) gene (C28... 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
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
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
To assess the frequency of 2 different forms of hemochromatosis HFE gene mutations (C282Y and H63D m... 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
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
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
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
In conclusion, our results indicate a minor role for the HFE mutations C282Y and H63D in the causati... 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
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
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
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
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
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
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 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
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
We determined the age; sex; presence of IRS (1 or more of the following: body mass index of &gt;25, ... DisGeNET Detail
A C282Y missense mutation in the HFE gene causes up to 90 percent of HH cases. DisGeNET Detail
The most frequent genotype associated with Hereditary hemochromatosis is the homozygosity for C282Y,... DisGeNET Detail
Most adults affected with HFE hereditary hemochromatosis (HH type 1, MIMmusical sharp 235200) are ho... DisGeNET Detail
Common variable immunodeficiency and IgG subclass deficiency in central Alabama hemochromatosis prob... DisGeNET Detail
Hereditary hemochromatosis (HH) is a disorder of iron metabolism that leads to iron overload in midd... DisGeNET Detail
C282Y-HFE gene variant affects cholesterol metabolism in human neuroblastoma cells. DisGeNET Detail
Homozygosity for the C282Y mutation in the HFE gene is strongly associated with hereditary hemochrom... DisGeNET Detail
We have examined transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains... DisGeNET Detail
Hemochromatosis in white subjects is mostly due to homozygosity for the common C282Y substitution in... DisGeNET Detail
Direct comparison of the telomerically extended portion of the MS susceptibility haplotype in HFE-Cy... DisGeNET Detail
The main hereditary hemochromatosis mutation C282Y in the HFE gene was recently described, and the C... DisGeNET Detail
Hereditary hemochromatosis is associated with homozygosity for C282Y mutation in the HFE gene, eleva... DisGeNET Detail
A 65-yr-old Japanese woman presenting with primary hemochromatosis underwent HFE mutation analyses, ... DisGeNET Detail
Homozygosity for the C282Y mutation of the HFE gene is a highly significant risk factor for the deve... DisGeNET Detail
Patient 1 had hemochromatosis, HFE C282Y homozygosity, and beta-thalassemia minor. DisGeNET Detail
The C282Y polymorphism in HFE could be a potential protective factor for ALS in Caucasians. DisGeNET Detail
TSI and serum ferritin values detected most HFE C282Y variant homozygotes and are recommended to fac... DisGeNET Detail
High prevalence of the hemochromatosis-associated Cys282Tyr HFE gene mutation in a healthy Norwegian... DisGeNET Detail
Risk of venous thromboembolism associated with the common hereditary haemochromatosis Hfe gene (C282... DisGeNET Detail
To determine the extent to which mutations in the transferrin receptor-2 gene occur in other populat... DisGeNET Detail
Risk of venous thromboembolism associated with the common hereditary haemochromatosis Hfe gene (C282... DisGeNET Detail
HFE gene testing for the C282Y mutation is a cost-effective method of screening relatives of patient... DisGeNET Detail
Except for C282Y homozygotes, HFE gene mutations do not increase the risk to develop HCC in patients... DisGeNET Detail
Two had severe iron overload and no anemia: one also had HFE C282Y homozygosity, and the other was w... DisGeNET Detail
The homozygous p.C282Y variant of the HFE gene is a major risk factor for hereditary hemochromatosis... DisGeNET Detail
Duodenal biopsy samples were analyzed using real-time PCR for expression of DMT1, FPN1, DCYTB, and H... DisGeNET Detail
NA DisGeNET Detail
Testing for HFE mutations in clinics for diabetes, liver disease and cardiovascular disease has show... DisGeNET Detail
The CD8+ T-lymphocyte profile as a modifier of iron overload in HFE hemochromatosis: an update of cl... DisGeNET Detail
Chart reviews were performed on a cohort of adults (age ≥40, N = 101) with the common C282Y/C282Y HF... DisGeNET Detail
Duodenal biopsy samples were analyzed using real-time PCR for expression of DMT1, FPN1, DCYTB, and H... DisGeNET Detail
A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heter... DisGeNET Detail
HFE C282Y mutations are associated with advanced hepatic fibrosis in Caucasians with nonalcoholic st... DisGeNET Detail
Most clinical cases are homozygous for the Cys282Tyr (C282Y) mutation in the HFE gene, with serum fe... DisGeNET Detail
RESEARCH DESIGN AND METHODS We studied these 16 variables in 159 nonscreening hemochromatosis proban... DisGeNET Detail
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian a... DisGeNET Detail
The mild iron overload associated with heterozygosity for C282Y HFE mutation confers susceptibility ... DisGeNET Detail
Heterozygosity for the Cys282Tyr mutation in the HFE gene and the risk of colorectal cancer (Netherl... DisGeNET Detail
A previously undescribed frameshift deletion mutation of HFE (c.del277; G93fs) associated with hemoc... DisGeNET Detail
Hereditary hemochromatosis (HH) is one of the most common autosomal recessive disorders of iron meta... DisGeNET Detail
We have studied the relationship between serum ferritin, transferrin saturation, liver iron, presenc... DisGeNET Detail
We assessed the influence of Ala16Val-superoxide dismutase 2, Pro198Leu-glutathione peroxidase 1, an... DisGeNET Detail
The C282Y homozygous HFE hereditary hemochromatosis genotype was under-represented in this elderly c... DisGeNET Detail
The data show that expression of C282Y HFE triggers a stress-protective response in HepG2 cells and ... DisGeNET Detail
This study was undertaken to determine the HFE genotype in liver transplant recipients clinically di... DisGeNET Detail
We determined whether the rise in post-prandial serum iron is increased in fully treated patients wi... DisGeNET Detail
Hemochromatosis is a common disorder of iron overload most commonly due to homozogosity for the HFE ... DisGeNET Detail
Eight hemochromatosis probands with HFE C282Y homozygosity had frequent, severe, or unusual infectio... DisGeNET Detail
We assessed the influence of Ala16Val-superoxide dismutase 2, Pro198Leu-glutathione peroxidase 1, an... DisGeNET Detail
The most common form of primary hemochromatosis is that caused by C282Y mutation of the HFE gene. DisGeNET Detail
The majority of hereditary haemochromatosis (HH) patients are homozygous for the C282Y mutation in t... DisGeNET Detail
Determinants and characteristics of mean corpuscular volume and hemoglobin concentration in white HF... DisGeNET Detail
The purpose of this study was to estimate analytic sensitivity and specificity of HFE testing for C2... DisGeNET Detail
We evaluated whether the recently described C282Y mutation of the hemochromatosis gene, designated H... DisGeNET Detail
Duodenal biopsy samples were analyzed using real-time PCR for expression of DMT1, FPN1, DCYTB, and H... DisGeNET Detail
HFE is a class-I MHC related protein which carries the C282Y mutation in most patients with heredita... DisGeNET Detail
In populations of northern European descent, the p.C282Y mutation in the HFE gene is highly prevalen... DisGeNET Detail
Non-invasive assessment of liver fibrosis in C282Y homozygous HFE hemochromatosis. DisGeNET Detail
HFE C282Y homozygotes have reduced low-density lipoprotein cholesterol: the Atherosclerosis Risk in ... DisGeNET Detail
Increased transferrin saturation and HFE genotype C282Y/C282Y predict total mortality in patients wi... DisGeNET Detail
In Caucasians, C282Y HFE homozygotes are numerous, but they are only predisposed to hemochromatosis;... DisGeNET Detail
Unlike these rare instances, in white people, homozygotes for C282Y polymorphism in HFE are numerous... DisGeNET Detail
Twenty-four male patients (mean age 47.2 +/- 12 years) homozygous for the C282Y mutation in the hemo... DisGeNET Detail
At univariate analysis, iron overload was significantly associated with both HFE mutations (P &lt; 0... DisGeNET Detail
HFE C282Y homozygosity is associated with an increased risk of total hip replacement for osteoarthri... DisGeNET Detail
Other recent evidence indicates that the prevalence of HFE gene mutations is increased in chronic vi... DisGeNET Detail
RESEARCH DESIGN AND METHODS We studied these 16 variables in 159 nonscreening hemochromatosis proban... DisGeNET Detail
The C282Y mutation in the HFE gene is responsible for most cases of hereditary haemochromatosis. DisGeNET Detail
Hemochromatosis is considered by many to be an uncommon disorder, although the prevalence of HFE (Hi... DisGeNET Detail
We assessed the influence of Ala16Val-superoxide dismutase 2, Pro198Leu-glutathione peroxidase 1, an... DisGeNET Detail
The 845A(C282Y) mutation in the HLA-H gene accounts for most cases of hereditary hemochromatosis in ... DisGeNET Detail
Hereditary hemochromatosis (HH) is a genetic disease associated with iron overload, in which individ... DisGeNET Detail
Effect of Native American ancestry on iron-related phenotypes of Alabama hemochromatosis probands wi... DisGeNET Detail
A 60-year-old woman with secondary chronic cluster headache had increased serum ferritin and serum t... DisGeNET Detail
We have detected two new HAMP mutations in two different families, in which there is concordance bet... DisGeNET Detail
The mild iron overload associated with heterozygosity for C282Y HFE mutation confers susceptibility ... DisGeNET Detail
Together, these data shed light on the molecular mechanisms involved in HFE C282Y-related HH and ope... DisGeNET Detail
About 80% of individuals of European descent with HH are homozygous for a cysteine-to-tyrosine subst... DisGeNET Detail
Heterozygosity for p.Cys282YTyr is not ordinarily associated with a hemochromatosis phenotype, unles... DisGeNET Detail
The most common mutation of HFE, C282Y, has a Celtic origin and most patients with HH are homozygous... DisGeNET Detail
Factor V Leiden and the common haemochromatosis mutation HFE C282Y: is there an association in famil... DisGeNET Detail
In HCV-infected patients, heterozygosity for the C282Y mutation in HFE was significantly associated ... DisGeNET Detail
Duodenal biopsy samples were analyzed using real-time PCR for expression of DMT1, FPN1, DCYTB, and H... DisGeNET Detail
The most common form of hereditary haemochromatosis is an adult-onset condition usually associated w... DisGeNET Detail
In Northern Europe, more than 90% of HH patients are homozygous for a mis-sense mutation (C282Y) in ... DisGeNET Detail
Heterozygosityfor the C282Y mutation in HFE contributes to iron accumulation and fibrosis progressio... DisGeNET Detail
In Spain, 85% of patients with genetic hemochromatosis (GH) are homozygous for the C282Y mutation of... DisGeNET Detail
HFE C282Y homozygotes without phenotypic expression do not have significantly decreased duodenal gen... DisGeNET Detail
HFE C282Y homozygotes have reduced low-density lipoprotein cholesterol: the Atherosclerosis Risk in ... DisGeNET Detail
[A small but significant number of Norwegian male C282Y homozygotes will contract liver cirrhosis if... DisGeNET Detail
Factor V Leiden and the common haemochromatosis mutation HFE C282Y: is there an association in famil... DisGeNET Detail
Iron metabolism has been implicated in carcinogenesis and several studies assessed the potential rol... DisGeNET Detail
HFE C282Y homozygosity is associated with lower total and low-density lipoprotein cholesterol: The h... DisGeNET Detail
We describe a novel heterozygous mutation in exon 3 of the HFE-gene that was co-inherited with Cys28... DisGeNET Detail
Genetic epidemiology studies of hereditary hemochromatosis (HHC) have shown a high prevalence of the... DisGeNET Detail
Patients with C282Y HFE hemochromatosis also have inappropriately low hepcidin levels for the degree... DisGeNET Detail
Factor V Leiden and the common haemochromatosis mutation HFE C282Y: is there an association in famil... DisGeNET Detail
Homozygosity for the C282Y mutation of the HFE gene is the main cause of iron overload in hereditary... DisGeNET Detail
Heterozygosityfor the C282Y mutation in HFE contributes to iron accumulation and fibrosis progressio... DisGeNET Detail
HFE gene C282Y variant is associated with colorectal cancer in Caucasians: a meta-analysis. DisGeNET Detail
Other recent evidence indicates that the prevalence of HFE gene mutations is increased in chronic vi... DisGeNET Detail
In this study we analyzed the livers of 50 transplant patients with a diagnosis of either hepatitis ... DisGeNET Detail
Haptoglobin type neither influences iron accumulation in normal subjects nor predicts clinical prese... DisGeNET Detail
Reasons prompting requests for HFE genotype testing and compliance with accepted clinical indication... DisGeNET Detail
Two SNPs (rs1800562 of HFE and rs2279744 of MDM2) were associated with HCC with moderate epidemiolog... DisGeNET Detail
We determined serum ferritin, as a biochemical estimate of iron stores, and the C282Y mutation in th... DisGeNET Detail
Background-Homozygosity for a relatively common Cys282Tyr mutation of the human hemochromatosis-asso... DisGeNET Detail
We assessed the influence of Ala16Val-superoxide dismutase 2, Pro198Leu-glutathione peroxidase 1, an... DisGeNET Detail
Hereditary hemochromatosis (HH), most often due to HFE C282Y homozygosity, is an iron overload disor... DisGeNET Detail
Hereditary hemochromatosis mutation 845A (C282Y) in the HFE gene was recently described, and the C28... DisGeNET Detail
It has been postulated that the HFE C282Y mutation (linked to human leukocyte antigen [HLA]-A3-B7 ha... DisGeNET Detail
Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification... DisGeNET Detail
Common variable immunodeficiency and IgG subclass deficiency in central Alabama hemochromatosis prob... DisGeNET Detail
Hereditary Hemochromatosis (HH) is a recessively inherited disorder of iron overload occurring commo... DisGeNET Detail
Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovasc... DisGeNET Detail
Hepatocellular carcinoma and the penetrance of HFE C282Y mutations: a cross sectional study. DisGeNET Detail
Hereditary hemochromatosis (HH) is a genetic disease associated with iron overload, in which individ... DisGeNET Detail
Although most adult patients with hereditary iron overload are homozygous for the C282Y mutation of ... DisGeNET Detail
All subjects with HH had C282Y homozygosity, and the normal volunteers lacked any HFE gene mutations... DisGeNET Detail
The results indicate that HH patients with the HFE C282Y mutation and low numbers of CD8+ cells in t... DisGeNET Detail
In the UK, 90% of patients with hereditary haemochromatosis (HH) are homozygous for HFE C282Y, as ar... DisGeNET Detail
Extended haplotype analysis in the HLA complex reveals an increased frequency of the HFE-C282Y mutat... DisGeNET Detail
The origin and spread of the HFE-C282Y haemochromatosis mutation. DisGeNET Detail
HFE is a class-I MHC related protein which carries the C282Y mutation in most patients with heredita... DisGeNET Detail
The most common form of hereditary hemochromatosis is related to homozygosity for the C282Y mutation... DisGeNET Detail
To identify polymorphisms associated with variability of iron overload severity in HFE-associated he... DisGeNET Detail
A prospective study of coronary heart disease and the hemochromatosis gene (HFE) C282Y mutation: the... DisGeNET Detail
Iron overload in patients with the non-C282Y +/+ genotype is mild to moderate, strikingly lower than... DisGeNET Detail
RESEARCH DESIGN AND METHODS We studied these 16 variables in 159 nonscreening hemochromatosis proban... DisGeNET Detail
The presence of C282Y homozygosity in roughly half of the Brazilian patients with HH, together with ... DisGeNET Detail
Lower serum hepcidin and greater parenchymal iron in nonalcoholic fatty liver disease patients with ... DisGeNET Detail
Type 1 hereditary hemochromatosis is a common disorder of iron overload occurring in individuals hom... DisGeNET Detail
Hereditary hemochromatosis (HH) is a disorder of iron metabolism that leads to iron overload in midd... DisGeNET Detail
Predominance of the HLA-H Cys282Tyr mutation in Austrian patients with genetic haemochromatosis. DisGeNET Detail
Heterozygotes for the p.Cys282Tyr (C282Y) mutation of the HFE gene do not usually express a hemochro... DisGeNET Detail
We studied the relationship between iron removed by venesection, sex, age, and clinical characterist... DisGeNET Detail
Assessment of the risk-factor profile revealed an absence of classic risk factors but the presence o... DisGeNET Detail
Authors of a recent study identified a mutation in HLA-H gene, C282Y, that is an excellent marker fo... DisGeNET Detail
These data: (i) show that serum Cp and ferroxidase activity are decreased when C282Y homozygote men ... DisGeNET Detail
The term hemochromatosis should refer to a unique clinicopathologic subset of iron-overload syndrome... DisGeNET Detail
iron accumulation confirmed by magnetic resonance imaging (MRI) in the absence of the homozygous C28... DisGeNET Detail
A prospective study of coronary heart disease and the hemochromatosis gene (HFE) C282Y mutation: the... DisGeNET Detail
We found that HFE C282Y might be associated with a protective role against CMPD. DisGeNET Detail
Increased incidence of HFE C282Y mutations in patients with iron overload and hepatocellular carcino... DisGeNET Detail
Testing for HFE mutations in clinics for diabetes, liver disease and cardiovascular disease has show... DisGeNET Detail
HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia. DisGeNET Detail
The homozygous p.C282Y variant of the HFE gene is a major risk factor for hereditary hemochromatosis... DisGeNET Detail
We have examined transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains... DisGeNET Detail
Women who inherit heterozygosity for the C282Y mutation of the HFE gene may have increased serum iro... DisGeNET Detail
The frequency of PIL, and the HFE gene mutaion (C282Y) are both rare in Indian patients and explain ... DisGeNET Detail
Recent studies have shown that hereditary hemochromatosis (HH) is likely to be caused by homozygosit... DisGeNET Detail
More than 80% of hemochromatosis probands of Northern European descent are homozygous for the C282Y ... DisGeNET Detail
There was a significantly higher frequency of coinheritance of the hereditary hemochromatosis (HH) H... DisGeNET Detail
Untreated C282Y homozygous HH patients (n=20) with elevated serum ferritin (SF) and patients with ph... DisGeNET Detail
Hereditary hemochromatosis is associated with homozygosity for C282Y mutation in the HFE gene, eleva... DisGeNET Detail
The most common form of HH is caused by mutations in the HFE gene, with most cases of HH presenting ... DisGeNET Detail
Hereditary hemochromatosis is associated with homozygosity for the C282Y mutation in the hemochromat... DisGeNET Detail
We investigated whether genetic variability within the DMT1 gene may partly explain the phenotypic v... DisGeNET Detail
Assessment of the risk-factor profile revealed an absence of classic risk factors but the presence o... DisGeNET Detail
This report describes the first functional significance of the C282Y mutation by suggesting that an ... DisGeNET Detail
Serum ferritin and C282Y mutation of the hemochromatosis gene as predictors of asymptomatic carotid ... DisGeNET Detail
Diabetes in first-degree family members: a predictor of type 2 diabetes in 159 nonscreening Alabama ... DisGeNET Detail
Duodenal biopsy samples were analyzed using real-time PCR for expression of DMT1, FPN1, DCYTB, and H... DisGeNET Detail
A 60-year-old woman with secondary chronic cluster headache had increased serum ferritin and serum t... DisGeNET Detail
Increased incidence of HFE C282Y mutations in patients with iron overload and hepatocellular carcino... DisGeNET Detail
In the absence of known causes for secondary iron overload, the early diagnosis was evidenced by gen... DisGeNET Detail
HFE gene mutation, C282Y causing hereditary hemochromatosis in Caucasian is extremely rare in Korean... DisGeNET Detail
We have examined transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains... DisGeNET Detail
Phenotypic expression of a novel C282Y/R226G compound heterozygous state in HFE hemochromatosis: mol... DisGeNET Detail
Non-invasive assessment of liver fibrosis in C282Y homozygous HFE hemochromatosis. DisGeNET Detail
HFE C282Y homozygotes have twice the risk of colorectal and breast cancer compared with those indivi... DisGeNET Detail
The most frequent mutation causing hemochromatosis is C282Y in the HFE gene, the highest frequency o... DisGeNET Detail
Patients with hereditary haemochromatosis (HH) are usually homozygous for the C282Y mutation in the ... DisGeNET Detail
Forty-three asymptomatic subjects with HH (C282Y homozygosity in the HFE gene) and 21 age- and gende... DisGeNET Detail
This review considered genetic screening for HFE-related hereditary hemochromatosis in C282Y homozyg... DisGeNET Detail
He did not carry either of the two common mutations of the HLA-H gene for hereditary hemochromatosis... DisGeNET Detail
It is less well established that the prevalence of the HFE mutations is increased in alcoholic liver... DisGeNET Detail
As part of the Healthy Ageing across the Life Course (HALCyon) program, men and women aged between 4... DisGeNET Detail
Most adults affected with hereditary hemochromatosis are homozygous for a single point mutation of H... DisGeNET Detail
Homozygous C282Y mutation in HFE gene is responsible for the majority of hereditary hemochromatosis ... DisGeNET Detail
In patients with clinical hemochromatosis, the frequency of diabetes ranges from 20 to 50%, and the ... DisGeNET Detail
We evaluated whether the recently described C282Y mutation of the hemochromatosis gene, designated H... DisGeNET Detail
The first important step toward establishing the role of HFE in the pathogenesis of HC came with the... DisGeNET Detail
HFE-related hereditary haemochromatosis (HH) is an iron overload disease attributed to the highly pr... DisGeNET Detail
Heterozygosity for the Cys282Tyr mutation in the HFE gene and the risk of colorectal cancer (Netherl... DisGeNET Detail
Heterozygosityfor the C282Y mutation in HFE contributes to iron accumulation and fibrosis progressio... DisGeNET Detail
Determination of HFE genotype is clinically useful in patients with liver disease and suspected iron... DisGeNET Detail
We performed molecular investigation of the genes implicated in hereditary hemochromatosis in six pa... DisGeNET Detail
[The finding of iron deposits in routinely obtained liver specimen correlates with occurrence of the... DisGeNET Detail
The clinical expression of hemochromatosis in Oslo, Norway. Excessive oral iron intake may lead to s... DisGeNET Detail
Our data do not confirm an association of PCT with the Cys282Tyr HFE mutation, strongly associated w... DisGeNET Detail
Hereditary hemochromatosis is a common autosomal- recessive disorder of iron overload usually occurr... DisGeNET Detail
I propose that hereditary hemochromatosis and in particular the common HFE C282Y mutation may repres... DisGeNET Detail
There was 100% concordance of HFE genotype C282Y/C282Y in 6 probands and 8 of their siblings who rep... DisGeNET Detail
IVS3 + 1G --&gt; T in the compound heterozygous state with C282Y results in iron overload that can p... DisGeNET Detail
Over 80%, of Caucasian patients with hereditary haemochromatosis are homozygotes for a C282Y mutatio... DisGeNET Detail
Homozygosity for a C282Y mutation in the hemochromatosis (HFE) gene is the underlying defect in appr... DisGeNET Detail
An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp... DisGeNET Detail
Human hemochromatosis (HC) has been associated with the common C282Y polymorphism of HFE or rare pat... DisGeNET Detail
Lower serum hepcidin and greater parenchymal iron in nonalcoholic fatty liver disease patients with ... DisGeNET Detail
PCSK7 variant rs236918 is a risk factor for cirrhosis in HH patients homozygous for the HFE C282Y mu... DisGeNET Detail
The C282Y HFE variant is more commonly associated with hereditary hemochromatosis, which is an autos... DisGeNET Detail
The protective effect of the heterozygous genotype for HFE C282Y mutation against ID and IDA in fema... DisGeNET Detail
Most clinical cases are homozygous for the Cys282Tyr (C282Y) mutation in the HFE gene, with serum fe... DisGeNET Detail
Although liver biopsy has been the standard diagnostic test for hemochromatosis, a new genetic blood... DisGeNET Detail
In hemochromatosis probands with HFE C282Y/C282Y, survival was longer in those with HLA-A*03, B*14. DisGeNET Detail
Hereditary hemochromatosis (HH) is one of the most common autosomal recessive disorders of iron meta... DisGeNET Detail
HLA haplotype A*03-B*07 in hemochromatosis probands with HFE C282Y homozygosity: frequency disparity... DisGeNET Detail
We studied 214 patients with hemochromatosis who were homozygous for the C282Y substitution in HFE a... DisGeNET Detail
The prevalences of reports of iron overload-associated abnormalities were not significantly differen... DisGeNET Detail
It is less well established that the prevalence of the HFE mutations is increased in alcoholic liver... DisGeNET Detail
Clinical expression of C282Y homozygous HFE haemochromatosis at 14 years of age. DisGeNET Detail
C282Y polymorphism in the HFE gene is associated with risk of breast cancer. DisGeNET Detail
[The role of iron overload and HFE gene mutations in the era of pegylated interferon and ribavirin t... DisGeNET Detail
The mutation responsible for 83% of HH (C260Y) results in the failure of HFE to form a critical disu... DisGeNET Detail
Frequency of the S65C mutation of HFE and iron overload in 309 subjects heterozygous for C282Y. DisGeNET Detail
Homozygosity for the C282Y mutation of the hemochromatosis gene on chromosome 6p (HFE) is a common g... DisGeNET Detail
An arthropathy considered typical for HH, involving metacarpophalangeal joints 2-5 and bilateral spe... DisGeNET Detail
The patient was heterozygous for HFE gene C282Y mutation (type I hemochromatosis). DisGeNET Detail
We conclude that HFE C282Y is a risk factor for HVOD and that CPS polymorphisms may counteract its a... DisGeNET Detail
In hemochromatosis probands homozygous for HFE C282Y, serum levels of ferritin greater than 1000 μg/... DisGeNET Detail
In addition to hepatocellular cancer, HFE C282Y homozygotes are reported to have increased risk of c... DisGeNET Detail
Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare H... DisGeNET Detail
Iron absorption by heterozygous carriers of the HFE C282Y mutation associated with hemochromatosis. DisGeNET Detail
As part of the Healthy Ageing across the Life Course (HALCyon) program, men and women aged between 4... DisGeNET Detail
Population studies have revealed (i) the serum transferrin saturation is strongly influenced by HFE ... DisGeNET Detail
High frequencies of the haemochromatosis-related HFE C282Y mutation have been reported in North Euro... DisGeNET Detail
HFE C282Y mutation as a genetic modifier influencing disease susceptibility for chronic myeloprolife... DisGeNET Detail
Serum hepcidin levels are innately low in HFE-related haemochromatosis but differ between C282Y-homo... DisGeNET Detail
Serial serum ferritin measurements in untreated HFE C282Y homozygotes in the Hemochromatosis and Iro... DisGeNET Detail
The same analysis was done in a group of 45 patients with HH who were homozygous for the C282Y mutat... DisGeNET Detail
C282Y mutation in the HLA-H gene is not a risk factor for patients with myocardial infarction. DisGeNET Detail
SNPs at ARNTL, TF, and TFR2 affect iron markers in HFE C282Y homozygotes at risk for hemochromatosis... DisGeNET Detail
The natural history of serum iron indices for HFE C282Y homozygosity associated with hereditary hemo... DisGeNET Detail
The demonstration of IVS3 +1G --&gt; T highlights the possibility of other rare HFE mutations, parti... DisGeNET Detail
We performed PCR-based analysis for the haemochromatosis-related HFE C282Y mutation in an extended f... DisGeNET Detail
It is less well established that the prevalence of the HFE mutations is increased in alcoholic liver... DisGeNET Detail
Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant asso... DisGeNET Detail
In addition to hepatocellular cancer, HFE C282Y homozygotes are reported to have increased risk of c... DisGeNET Detail
Most HH is due to homozygosity for the HFE p.C282Y substitution. DisGeNET Detail
It is less well established that the prevalence of the HFE mutations is increased in alcoholic liver... DisGeNET Detail
C282Y-HFE gene variant affects cholesterol metabolism in human neuroblastoma cells. DisGeNET Detail
Other recent evidence indicates that the prevalence of HFE gene mutations is increased in chronic vi... DisGeNET Detail
In the UK approximately 1 in 140 people are homozygous for the C282Y mutation of the HFE gene and ar... DisGeNET Detail
Genetic loci associated with iron metabolism (TF, TMPRSS6, PCSK7, TFR2 and Chr2p14) in recent GWAS a... DisGeNET Detail
The aim of this study was to reassess the phenotypic diagnostic criteria for hemochromatosis in pati... DisGeNET Detail
In addition to hepatocellular cancer, HFE C282Y homozygotes are reported to have increased risk of c... DisGeNET Detail
In populations of northern European descent, the p.C282Y mutation in the HFE gene is highly prevalen... DisGeNET Detail
Diabetes in first-degree family members: a predictor of type 2 diabetes in 159 nonscreening Alabama ... DisGeNET Detail
Iron absorption is decreased in some patients with hemochromatosis and HFE C282Y homozygosity after ... DisGeNET Detail
The main objective of this work was to study the role of variants in the SLC40A1 gene in the severit... DisGeNET Detail
The low prevalence of the C282Y mutation of the HFE gene in Japan means that the genetic background ... DisGeNET Detail
High incidence of the Cys 282 Tyr mutation in the HFE gene in the Irish population--implications for... DisGeNET Detail
We investigated whether genetic variability within the DMT1 gene may partly explain the phenotypic v... DisGeNET Detail
Hereditary hemochromatosis (HH) is a genetic disease associated with iron overload, in which individ... DisGeNET Detail
Homozygosity for a cysteine to tyrosine translocation at position 282 within the HFE gene (C282Y) is... DisGeNET Detail
Given the population frequency of C282Y and the connection between iron and cancer, clarification of... DisGeNET Detail
The divergent frequencies observed for the C282Y mutation in patients with AML and ET highlight the ... DisGeNET Detail
To evaluate this topic, 43 asymptomatic subjects with HH homozygous for the C282Y HFE gene mutation ... DisGeNET Detail
Most hereditary hemochromatosis (HH) patients are homozygous for the C282Y mutation of the HFE gene. DisGeNET Detail
C282Y polymorphism in the HFE gene is associated with risk of breast cancer. DisGeNET Detail
A 57-year-old white woman had serum ferritin 793 ng/mL, HFE C282Y homozygosity, elevated serum angio... DisGeNET Detail
Penetrance of 845G--&gt; A (C282Y) HFE hereditary haemochromatosis mutation in the USA. DisGeNET Detail
We performed PCR-based analysis for the haemochromatosis-related HFE C282Y mutation in an extended f... DisGeNET Detail
[A French Mediterranean regional hemochromatosis registry with strict inclusion criteria is a useful... DisGeNET Detail
This study was conducted to investigate the role of HFE-C282Y and FXIII (V34L and P564L) gene varian... DisGeNET Detail
Other recent evidence indicates that the prevalence of HFE gene mutations is increased in chronic vi... DisGeNET Detail
PCSK7 variant rs236918 is a risk factor for cirrhosis in HH patients homozygous for the HFE C282Y mu... DisGeNET Detail
Curaçao patients with coronary artery disease have a higher prevalence of the HFE C282Y mutation. DisGeNET Detail
Porphyria cutanea tarda associated with Cys282Tyr mutation in HFE gene in hereditary hemochromatosis... DisGeNET Detail
The most common mutation of the HFE gene C282Y has shown a risk association with childhood acute lym... DisGeNET Detail
Hereditary hemochromatosis (HH), most often due to HFE C282Y homozygosity, is an iron overload disor... DisGeNET Detail
Iron absorption is decreased in some patients with hemochromatosis and HFE C282Y homozygosity after ... DisGeNET Detail
Both the human neuroblastoma and glioma cells that express the C282Y HFE variant are resistant to Te... DisGeNET Detail
The term hemochromatosis should refer to a unique clinicopathologic subset of iron-overload syndrome... DisGeNET Detail
HFE is a class-I MHC related protein which carries the C282Y mutation in most patients with heredita... DisGeNET Detail
Testing for HFE mutations in clinics for diabetes, liver disease and cardiovascular disease has show... DisGeNET Detail
The data show that expression of C282Y HFE triggers a stress-protective response in HepG2 cells and ... DisGeNET Detail
A PCR-SSP method for detecting the Cys282Tyr mutation in the HFE gene associated with hereditary hae... DisGeNET Detail
Except for C282Y homozygotes, HFE gene mutations do not increase the risk to develop HCC in patients... DisGeNET Detail
SNPs at ARNTL, TF, and TFR2 affect iron markers in HFE C282Y homozygotes at risk for hemochromatosis... DisGeNET Detail
Most patients are homozygous for the c.845G&gt;A (p.C282Y) mutation in the HFE gene; however, rare f... DisGeNET Detail
Mutations in HAMP and HJV genes and their impact on expression of clinical hemochromatosis in a coho... DisGeNET Detail
Absence of hemochromatosis associated Cys282Tyr HFE gene mutation and low frequency of hemochromatos... DisGeNET Detail
[Iron overload was frequently detected in patients with CHC, and was associated only with C282Y alle... DisGeNET Detail
Thyroid-stimulating hormone and free thyroxine levels in persons with HFE C282Y homozygosity, a comm... DisGeNET Detail
In patients with clinical hemochromatosis, the frequency of diabetes ranges from 20 to 50%, and the ... DisGeNET Detail
Homozygosity for the C282Y mutation of the HFE gene is the main cause of iron overload in hereditary... DisGeNET Detail
Low levels of hepcidin are responsible for the development of iron overload in p.Cys282Tyr HFE relat... DisGeNET Detail
A 57-year-old white woman had serum ferritin 793 ng/mL, HFE C282Y homozygosity, elevated serum angio... DisGeNET Detail
Serial serum ferritin measurements in untreated HFE C282Y homozygotes in the Hemochromatosis and Iro... DisGeNET Detail
In addition to hepatocellular cancer, HFE C282Y homozygotes are reported to have increased risk of c... DisGeNET Detail
The C282Y mutation on the HFE gene accounts for most cases of HH; however, other genetic mutations h... DisGeNET Detail
An accurate determination of the major HFE mutation (C282Y), which is associated with hereditary hem... DisGeNET Detail
The study shows that from a population of patients in whom a routine liver function profile had been... DisGeNET Detail
In HFE-related haemochromatosis, a large proportion of C282Y homozygotes, especially women, are not ... DisGeNET Detail
In HCV-infected patients, heterozygosity for the C282Y mutation in HFE was significantly associated ... DisGeNET Detail
Duodenal biopsy samples were analyzed using real-time PCR for expression of DMT1, FPN1, DCYTB, and H... DisGeNET Detail
RESEARCH DESIGN AND METHODS We studied these 16 variables in 159 nonscreening hemochromatosis proban... DisGeNET Detail
In hemochromatosis probands homozygous for HFE C282Y, serum levels of ferritin greater than 1000 μg/... DisGeNET Detail
Heterozygosity for the C282Y mutation in HFE contributes to iron accumulation and fibrosis progressi... DisGeNET Detail
Heavy HIOL was noted in C282Y homozygotes and 1 patient with cirrhosis without either HFE mutation. DisGeNET Detail
Consequently, we propose that HH associated with the C282Y HFE mutation should be considered a confo... DisGeNET Detail
Although most cases of hereditary haemochromatosis are associated with homozygosity for the C282Y mu... DisGeNET Detail
HFE C282Y homozygotes without phenotypic expression do not have significantly decreased duodenal gen... DisGeNET Detail
A prospective study of coronary heart disease and the hemochromatosis gene (HFE) C282Y mutation: the... DisGeNET Detail
Curaçao patients with coronary artery disease have a higher prevalence of the HFE C282Y mutation. DisGeNET Detail
Clinical penetrance of C282Y homozygous HFE hemochromatosis. DisGeNET Detail
Assessment of the risk-factor profile revealed an absence of classic risk factors but the presence o... DisGeNET Detail
Future investigations will refine our knowledge of the mechanisms of action of HFE protein, the phen... DisGeNET Detail
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. DisGeNET Detail
We assessed the influence of Ala16Val-superoxide dismutase 2, Pro198Leu-glutathione peroxidase 1, an... DisGeNET Detail
Since the discovery of the HFE gene in 1996, it has been possible to predict the risk of developing ... DisGeNET Detail
We assessed the influence of Ala16Val-superoxide dismutase 2, Pro198Leu-glutathione peroxidase 1, an... DisGeNET Detail
Hereditary hemochromatosis is a common-recessive-autosomal disease characterized by progressive iron... DisGeNET Detail
After the 1996 identification of the main causative gene HFE and confirmation that most patients wer... DisGeNET Detail
HFE has been amongst the preferred targets of interest, since the discovery that its C282Y mutation ... DisGeNET Detail
The mutation responsible for 83% of HH (C260Y) results in the failure of HFE to form a critical disu... DisGeNET Detail
HFE C282Y homozygotes are at increased risk of breast and colorectal cancer. DisGeNET Detail
Genetic loci associated with iron metabolism (TF, TMPRSS6, PCSK7, TFR2 and Chr2p14) in recent GWAS a... DisGeNET Detail
The impact of HFE on iron transport was examined in B-lymphoid cell lines developed from a patient w... DisGeNET Detail
As part of the Healthy Ageing across the Life Course (HALCyon) program, men and women aged between 4... DisGeNET Detail
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. DisGeNET Detail
The C282Y mutation in the HFE gene is the main mutation causing hemochromatosis, and C282Y frequenci... DisGeNET Detail
A study of 82 extended HLA haplotypes in HFE-C282Y homozygous hemochromatosis subjects: relationship... DisGeNET Detail
Since his serum ferritin was 3249 ng/mL, genetic testing for hereditary hemochromatosis was carried ... DisGeNET Detail
It has, however, rapidly become clear that the HFE C282Y mutation is not the sole culprit in genetic... DisGeNET Detail
Occult CD may compensate for increased DMT1 expression in a specific subset of individuals with homo... DisGeNET Detail
Here we report a 33-years-old woman with hereditary spherocytosis and hemochromatosis due to homozyg... DisGeNET Detail
[The role of iron overload and HFE gene mutations in the era of pegylated interferon and ribavirin t... DisGeNET Detail
Background-Homozygosity for a relatively common Cys282Tyr mutation of the human hemochromatosis-asso... DisGeNET Detail
There was 100% concordance of HFE genotype C282Y/C282Y in 6 probands and 8 of their siblings who rep... DisGeNET Detail
Hereditary Hemochromatosis (HH) is a recessively inherited disorder of iron overload occurring commo... DisGeNET Detail
Genetic hemochromatosis (GH) is an iron overload disorder mainly due to the C282Y mutation of the HF... DisGeNET Detail
Over the last decade, the finding of a relatively high prevalence of the C282Y polymorphism of the H... DisGeNET Detail
We evaluated whether the recently described C282Y mutation of the hemochromatosis gene, designated H... DisGeNET Detail
Hereditary hemochromatosis (HH) due to homozygosity for the C282Y mutation in the HFE gene is a comm... DisGeNET Detail
C282Y is the most frequent HFE gene mutation causing HH in Northern European populations and their d... DisGeNET Detail
The divergent frequencies observed for the C282Y mutation in patients with AML and ET highlight the ... DisGeNET Detail
The CD8+ T-lymphocyte profile as a modifier of iron overload in HFE hemochromatosis: an update of cl... DisGeNET Detail
We investigated whether genetic variability within the DMT1 gene may partly explain the phenotypic v... DisGeNET Detail
Genetic loci associated with iron metabolism (TF, TMPRSS6, PCSK7, TFR2 and Chr2p14) in recent GWAS a... DisGeNET Detail
As part of the Healthy Ageing across the Life Course (HALCyon) program, men and women aged between 4... DisGeNET Detail
HFE C282Y homozygotes are at increased risk of breast and colorectal cancer. DisGeNET Detail
Assessment of the risk-factor profile revealed an absence of classic risk factors but the presence o... DisGeNET Detail
Based on this hypothesis, we identified a heterozygous nc.-153 C&gt;T mutation in the hepcidin gene ... DisGeNET Detail
A previously undescribed frameshift deletion mutation of HFE (c.del277; G93fs) associated with hemoc... DisGeNET Detail
Hereditary hemochromatosis (HH) is a genetic iron overload disease, in the majority of cases associa... DisGeNET Detail
The presence of C282Y homozygosity in roughly half of the Brazilian patients with HH, together with ... DisGeNET Detail
Curaçao patients with coronary artery disease have a higher prevalence of the HFE C282Y mutation. DisGeNET Detail
The discovery of a genetic test for hereditary hemochromatosis has identified many individuals who a... DisGeNET Detail
We investigated whether genetic variability within the DMT1 gene may partly explain the phenotypic v... DisGeNET Detail
Heavy HIOL was noted in C282Y homozygotes and 1 patient with cirrhosis without either HFE mutation. DisGeNET Detail
The first important step toward establishing the role of HFE in the pathogenesis of HC came with the... DisGeNET Detail
Assessment of the risk-factor profile revealed an absence of classic risk factors but the presence o... DisGeNET Detail
HFE gene mutation (C282Y) and phenotypic expression among a hospitalised population in a high preval... DisGeNET Detail
To test whether genetic haemochromatosis is associated with increased atherosclerosis, we determined... DisGeNET Detail
5569G/A polymorphism of the HFE gene: no implications for C282Y genotyping in a hemochromatosis scre... DisGeNET Detail
This study does not support the hypothesis that the C282Y allele is an additional risk factor for ve... DisGeNET Detail
We characterized HFE C282Y homozygotes aged 25-29 years in the HEmochromatosis and IRon Overload Scr... DisGeNET Detail
The purpose of this study was to assess the level of satisfaction and understanding of test results,... DisGeNET Detail
However, high-level expression of a liver-specific Hfe transgene carrying the mouse equivalent of th... DisGeNET Detail
However, the clinical significance of HFE mutations remains uncertain, as is the proportion of peopl... DisGeNET Detail
Uncommon HFE mutations resulting in phenotypic hemochromatosis among C282Y heterozygotes have been i... DisGeNET Detail
Diabetes in first-degree family members: a predictor of type 2 diabetes in 159 nonscreening Alabama ... DisGeNET Detail
Hemochromatosis is a common disorder of iron overload most commonly due to homozogosity for the HFE ... DisGeNET Detail
Genetic testing for the C282Y mutation of the HFE gene has been a major advance in the diagnosis of ... DisGeNET Detail
The aim of this new meta-analysis (to the end of 2002) is to compile the Y allele frequencies of the... DisGeNET Detail
The main objective of this work was to study the role of variants in the SLC40A1 gene in the severit... DisGeNET Detail
There was a significantly higher frequency of coinheritance of the hereditary hemochromatosis (HH) H... DisGeNET Detail
Authors of a recent study identified a mutation in HLA-H gene, C282Y, that is an excellent marker fo... DisGeNET Detail
The C282Y mutation of the HFE gene has been reported to be present in most of the patients with here... DisGeNET Detail
To the authors' knowledge, this is the first report of homozygosity for the C282Y mutation of the HF... DisGeNET Detail
Reasons prompting requests for HFE genotype testing and compliance with accepted clinical indication... DisGeNET Detail
Mutations in HAMP and HJV genes and their impact on expression of clinical hemochromatosis in a coho... DisGeNET Detail
Therefore, further efforts to characterize the unscreened part of the HFE gene or other loci should ... DisGeNET Detail
Patients with HH carrying the HFE gene who were homozygous for the Cys282Tyr mutation, serum ferriti... DisGeNET Detail
[The finding of iron deposits in routinely obtained liver specimen correlates with occurrence of the... DisGeNET Detail
Among euthyroid white adults without iron deficiency, there are significant correlations of log(10) ... DisGeNET Detail
Genetic iron overload has long been confined to the classical type 1 hemochromatosis related to the ... DisGeNET Detail
As for Fe, the Zn isotopic composition exhibited a tendency toward lower levels of fractionation in ... DisGeNET Detail
A prospective study of coronary heart disease and the hemochromatosis gene (HFE) C282Y mutation: the... DisGeNET Detail
Factor V Leiden and the common haemochromatosis mutation HFE C282Y: is there an association in famil... DisGeNET Detail
Human hemochromatosis (HC) has been associated with the common C282Y polymorphism of HFE or rare pat... DisGeNET Detail
Hereditary hemochromatosis (HH) is classically associated with a Cys282Tyr (C282Y) mutation of the H... DisGeNET Detail
Hereditary hemochromatosis (HH) due to homozygosity for the C282Y mutation in the HFE gene is a comm... DisGeNET Detail
All HFE C282Y carriers presented significantly lower serum transferrin levels than the wild type gro... DisGeNET Detail
This report discusses the pathophysiology of iron accumulation in patients with hemolytic anemia com... DisGeNET Detail
We performed PCR-based analysis for the haemochromatosis-related HFE C282Y mutation in an extended f... DisGeNET Detail
The recent discovery of a specific homozygous mutation (C282Y) in a novel major histocompatibility c... DisGeNET Detail
Determinants and characteristics of mean corpuscular volume and hemoglobin concentration in white HF... DisGeNET Detail
Mutations in HAMP and HJV genes and their impact on expression of clinical hemochromatosis in a coho... DisGeNET Detail
Over 90% of patients with hemochromatosis in the United Kingdom are homozygous for the C282Y mutatio... DisGeNET Detail
The prevalence of HFE C282Y gene mutation is increased in Spanish patients with porphyria cutanea ta... DisGeNET Detail
Other recent evidence indicates that the prevalence of HFE gene mutations is increased in chronic vi... DisGeNET Detail
In this study we analyzed the livers of 50 transplant patients with a diagnosis of either hepatitis ... DisGeNET Detail
At univariate analysis, iron overload was significantly associated with both HFE mutations (P &lt; 0... DisGeNET Detail
The mild iron overload associated with heterozygosity for C282Y HFE mutation confers susceptibility ... DisGeNET Detail
HFE C282Y mutations are associated with advanced hepatic fibrosis in Caucasians with nonalcoholic st... DisGeNET Detail
RESEARCH DESIGN AND METHODS We studied these 16 variables in 159 nonscreening hemochromatosis proban... DisGeNET Detail
In hemochromatosis probands with HFE C282Y homozygosity, we conclude that (1) disparate frequencies ... DisGeNET Detail
Among men, C282Y homozygotes and compound heterozygotes were more likely to report a history of live... DisGeNET Detail
HFE C282Y homozygosity is associated with lower total and low-density lipoprotein cholesterol: The h... DisGeNET Detail
We assessed the influence of Ala16Val-superoxide dismutase 2, Pro198Leu-glutathione peroxidase 1, an... DisGeNET Detail
After the main hereditary hemochromatosis mutation C282Y in the HFE gene was described, we report he... DisGeNET Detail
RESEARCH DESIGN AND METHODS We studied these 16 variables in 159 nonscreening hemochromatosis proban... DisGeNET Detail
Patients with type 2 diabetes have a high frequency of the C282Y mutation of the hemochromatosis gen... DisGeNET Detail
Serum hepcidin levels are innately low in HFE-related haemochromatosis but differ between C282Y-homo... DisGeNET Detail
HFE-related (type 1) hemochromatosis remains the most frequent form, characterized by C282Y mutation... DisGeNET Detail
PCSK7 variant rs236918 is a risk factor for cirrhosis in HH patients homozygous for the HFE C282Y mu... DisGeNET Detail
The prevalence of HFE C282Y gene mutation is increased in Spanish patients with porphyria cutanea ta... DisGeNET Detail
The term hemochromatosis should refer to a unique clinicopathologic subset of iron-overload syndrome... DisGeNET Detail
The prevalence of HFE C282Y gene mutation is increased in Spanish patients with porphyria cutanea ta... DisGeNET Detail
Hereditary hemochromatosis is a common autosomal- recessive disorder of iron overload usually occurr... DisGeNET Detail
Patients with HH carrying the HFE gene who were homozygous for the Cys282Tyr mutation, serum ferriti... DisGeNET Detail
Increased capacity of lymphocytes from hereditary hemochromatosis patients homozygous for the C282Y ... DisGeNET Detail
Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant asso... DisGeNET Detail
Haptoglobin type neither influences iron accumulation in normal subjects nor predicts clinical prese... DisGeNET Detail
Two SNPs (rs1800562 of HFE and rs2279744 of MDM2) were associated with HCC with moderate epidemiolog... DisGeNET Detail
Genetic loci associated with iron metabolism (TF, TMPRSS6, PCSK7, TFR2 and Chr2p14) in recent GWAS a... DisGeNET Detail
From a literature survey, the calculated hemochromatosis allele frequencies from 16 studies using ph... DisGeNET Detail
[Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.] DisGeNET Detail
These data: (i) show that serum Cp and ferroxidase activity are decreased when C282Y homozygote men ... DisGeNET Detail
HFE is a class-I MHC related protein which carries the C282Y mutation in most patients with heredita... DisGeNET Detail
An arthropathy considered typical for HH, involving metacarpophalangeal joints 2-5 and bilateral spe... DisGeNET Detail
Heterozygosity for the C282Y mutation in the hemochromatosis gene is associated with increased serum... DisGeNET Detail
HLA haplotype A*03-B*07 in hemochromatosis probands with HFE C282Y homozygosity: frequency disparity... DisGeNET Detail
Hereditary hemochromatosis (HH), most often due to HFE C282Y homozygosity, is an iron overload disor... DisGeNET Detail
SNPs at ARNTL, TF, and TFR2 affect iron markers in HFE C282Y homozygotes at risk for hemochromatosis... DisGeNET Detail
Iron deficiency and frequency of HFE C282Y gene mutation in Brazilian blood donors. DisGeNET Detail
[Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.] DisGeNET Detail
In conclusion, the combination of high red meat consumption, low menstrual blood loss and the HFE C2... DisGeNET Detail
In the third study (2002), 371 C282Y-homozygous relatives of patients with HFE-associated hemochroma... DisGeNET Detail
Homozygosity for HFE C282Y is the predominant genetic risk factor for hereditary hemochromatosis (HH... DisGeNET Detail
S65C, C282Y), and in a case control study we searched for an association between sPCT and the human ... DisGeNET Detail
HFE C282Y homozygotes have twice the risk of colorectal and breast cancer compared with those indivi... DisGeNET Detail
most hereditary hemochromatosis (HH) patients are homozygous for the p.C282Y mutation in the HFE gen... DisGeNET Detail
Assessment of the risk-factor profile revealed an absence of classic risk factors but the presence o... DisGeNET Detail
HFE C282Y heterozygosity in hepatocellular carcinoma: evidence for an increased prevalence. DisGeNET Detail
Diabetes in first-degree family members: a predictor of type 2 diabetes in 159 nonscreening Alabama ... DisGeNET Detail
Chart reviews were performed on a cohort of adults (age ≥40, N = 101) with the common C282Y/C282Y HF... DisGeNET Detail
The C282Y HFE variant is more commonly associated with hereditary hemochromatosis, which is an autos... DisGeNET Detail
Porphyria cutanea tarda associated with Cys282Tyr mutation in HFE gene in hereditary hemochromatosis... DisGeNET Detail
Recently, the HFE-C282Y and FXIII-V34L gene variants demonstrated a role in the risk of venous ulcer... DisGeNET Detail
Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification... DisGeNET Detail
Hereditary hemochromatosis is associated with homozygosity for the C282Y mutation in the hemochromat... DisGeNET Detail
HFE gene C282Y variant is associated with colorectal cancer in Caucasians: a meta-analysis. DisGeNET Detail
He was also found to be heterozygous for the cys282tyr mutation of the HFE gene, which is the chief ... DisGeNET Detail
This is the first report to show an increased risk of OA among individuals who are heterozygous for ... DisGeNET Detail
In all 3 cases a homozygous C282Y mutation in the HFE gene was detected and liver biopsies confirmed... DisGeNET Detail
The discovery of the HFE gene and the frequency of the single C282Y mutation as a cause of most case... DisGeNET Detail
The term hemochromatosis should refer to a unique clinicopathologic subset of iron-overload syndrome... DisGeNET Detail
RESEARCH DESIGN AND METHODS We studied these 16 variables in 159 nonscreening hemochromatosis proban... 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
rs1800562 dbSNP
Genome
hg19
Position
chr6:26,093,141-26,093,141
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1555350127108852E-4
Chromosome Counts in All Race (ExAC)
121394
Allele Counts in All Race (ExAC)
3937
Heterozygous Counts in All Race (ExAC)
3697
Homozygous Counts in All Race (ExAC)
120
Allele Frequency in All Race (ExAC)
0.0324315864045999
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