Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.840 GeneticVariation BEFREE Compared with WT/WT, H63D</span>/WT and H63D</span>/H6</span>3D participants had a 2% to 4% and 4% to 7% absolute increase in hypertension risk at each visit, respectively. 30571559 2019
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.840 GeneticVariation BEFREE According to GWAS studies, iron regulatory protein HFE gene variant H63D (rs1799945) was associated with hypertension, an observation which we were able to confirm also in our TAMRISK cohort. 28151915 2017
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.840 GeneticVariation BEFREE We found that individuals with the mutated form of the H63D polymorphic site (G-allele) had a 1.4-fold risk (P = 0.037, 95% confidence interval [CI] 1.02-1.89) for hypertension at the age of 50 years compared with the CC genotype carriers. 25634189 2015
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.840 GeneticVariation BEFREE Multivariate analysis revealed that the odds of CHF was higher in females [Odds Ratio (OR) = 2·9, P < 0·01], individuals with pre-HCT chest radiation (OR = 4·7, P = 0·05), hypertension (OR = 2·9, P = 0·01), and with variants of genes coding for the NAD(P)H-oxidase subunit RAC2 (rs13058338, 7508T→A; OR = 2·8, P < 0·01), HFE (rs1799945, 63C→G; OR = 2·5, P = 0·05) or the doxorubicin efflux transporter ABCC2 (rs8187710, 1515G→A; OR = 4·3, P < 0·01). 23927520 2013
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.840 GeneticVariation GWASDB Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. 21909115 2011
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.840 GeneticVariation GWASCAT Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. 21909115 2011
Hereditary hemochromatosis
CUI: C0392514
Disease: Hereditary hemochromatosis
0.800 GeneticVariation BEFREE These diagnoses are more common than HH among patients with elevated serum ferritin who are not C282Y homozygotes or C282Y/H63D compound heterozygotes. 31335359 2019
Hereditary hemochromatosis
CUI: C0392514
Disease: Hereditary hemochromatosis
0.800 GeneticVariation BEFREE Three loss-of-function mutations in the hemochromatosis gene (HFE), namely, C282Y (c.845G>A), H63D (c.187C>G), and S65C (c.193A>T), account for the vast majority of HH cases. 30339210 2019
HEMOCHROMATOSIS, TYPE 1
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
0.800 GeneticVariation BEFREE The H63D HFE substitution also impacted on disease phenotype, but to a lesser extent. 30291871 2019
HEMOCHROMATOSIS, TYPE 1
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
0.800 GeneticVariation BEFREE The examined genes and single-nucleotide polymorphisms were 1) TMPRSS6, involved in regulation of hepcidin: rs855791; 2) HFE, associated with hemochromatosis: rs1800562 and rs1799945; 3) BTBD9, associated with restless leg syndrome: rs9357271; and 4) TF, encoding transferrin: rs2280673 and rs1830084. 30536387 2019
Corpuscular Hemoglobin Concentration Mean
0.800 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
Hereditary hemochromatosis
CUI: C0392514
Disease: Hereditary hemochromatosis
0.800 GeneticVariation BEFREE The College of American Pathologists offers blinded proficiency testing (PT) for laboratories performing HFE genetic tests for hereditary hemochromatosis (common C282Y and H63D variants). 27124787 2016
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.800 GeneticVariation BEFREE In particular, human haemochromatosis protein (HFE) is involved in iron metabolism, and HFE H63D polymorphism has been related to the risk of amyotrophic lateral sclerosis and Alzheimer's disease. 26613252 2016
Hereditary hemochromatosis
CUI: C0392514
Disease: Hereditary hemochromatosis
0.800 GeneticVariation BEFREE Statistically significant differences were observed for genotype distribution of C282Y (P < 0.001) and H63D (P = 0.013) between the general population and the patients diagnosed with HH. 27173269 2016
Corpuscular Hemoglobin Concentration Mean
0.800 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
HEMOCHROMATOSIS, TYPE 1
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
0.800 GeneticVariation BEFREE We genotyped HFE p.C282Y (rs1800562) and p.H63D (rs1799945) variants in patients with primary varicose veins (n = 463) and in the control group (n = 754). 26416403 2016
Hemoglobin measurement
CUI: C0518015
Disease: Hemoglobin measurement
0.800 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
Hereditary hemochromatosis
CUI: C0392514
Disease: Hereditary hemochromatosis
0.800 CausalMutation CLINVAR Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network. 26365338 2015
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.800 GeneticVariation BEFREE These results suggest okra may be beneficial in people expressing the H63D variant to reduce the risk of AD and other neurodegenerative diseases related to oxidative stress. 26170247 2015
HEMOCHROMATOSIS, TYPE 1
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
0.800 GeneticVariation BEFREE The risk of hemochromatosis-related morbidity for HFE simple heterozygosity for either the C282Y or H63D substitutions in the HFE protein was assessed using a prospective community-based cohort study. 25311314 2015
HEMOCHROMATOSIS, TYPE 1
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
0.800 CausalMutation CLINVAR Unusual retinopathy associated with hemochromatosis. 25767899 2015
Hereditary hemochromatosis
CUI: C0392514
Disease: Hereditary hemochromatosis
0.800 GeneticVariation BEFREE We used the eMERGE Network, a multicenter cohort with genotype data linked to electronic medical records, to estimate the diagnostic rate and clinical penetrance of HH in 98 individuals homozygous for the variant coding for HFE p.Cys282Tyr and 397 compound heterozygotes with variants resulting in p.[His63Asp];[Cys282Tyr]. 26365338 2015
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.800 GeneticVariation BEFREE In AtAD, HFE SNP rs1799945 was the strongest predictor of disease; variation in HFE has previously been implicated in AD risk in non-ε4 carriers. 25880661 2015
HEMOCHROMATOSIS, TYPE 1
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
0.800 GeneticVariation BEFREE Our objective was to examine whether functional polymorphisms in hemochromatosis (HFE; H63D and C282Y), transferrin (TfC2), and glutathione-s-transferase Pi1 (GSTP1; Ile105Val) genes modify any lead-ALS association. 25293352 2015
HEMOCHROMATOSIS, TYPE 1
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
0.800 GeneticVariation BEFREE Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network. 26365338 2015