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 |
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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 |
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Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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other |
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MGS000001
(TMGS000154) |
Kenjiro Kosaki | Keio University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2023-11-05 | criteria provided, multiple submitters, no conflicts | hemochromatosis type 1 |
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Detail |
Pathogenic; other | 2024-04-01 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2015-12-01 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2024-01-31 | criteria provided, multiple submitters, no conflicts | Hereditary hemochromatosis |
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Detail |
no classifications from unflagged records | 2023-11-14 | no classifications from unflagged records |
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Detail | |
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no assertion provided | Bronze diabetes |
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Detail | |
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2018-05-11 | criteria provided, single submitter | Peripheral neuropathy |
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Detail |
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2021-04-15 | criteria provided, single submitter | cardiomyopathy |
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Detail |
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2024-01-11 | criteria provided, multiple submitters, no conflicts | HFE-related disorder |
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Detail |
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2021-09-27 | criteria provided, single submitter | Inborn genetic diseases |
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Detail |
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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 |
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Detail |
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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 |
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Detail |
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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 |
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Detail |
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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 |
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Detail |
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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 |
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Detail |
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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 |
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Detail |
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2020-03-04 | criteria provided, single submitter | Juvenile hemochromatosis |
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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 --> 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 --> 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--> 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>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>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
Descrption | Source | Links |
---|---|---|
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 >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 < 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 --> 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 --> 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--> 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>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>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 < 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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