HFE, homeostatic iron regulator, 3077

N. diseases: 415; N. variants: 59
Disease: Adrenoleukodystrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1799945
rs1799945
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C0162309
Disease:
Adrenoleukodystrophy 		0.020 GeneticVariation BEFREE There was 1 C282Y/H63D compound heterozygote in the ALD group. 20424537 2010
dbSNP: rs1799945
rs1799945
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C0162309
Disease:
Adrenoleukodystrophy 		0.020 GeneticVariation BEFREE The prevalence of H63D heterozygosity was 12% in normal individuals, 14.8% in 236 patients (16.9% in NASH, 13.6% in ALD, 26.3% in viral and 12.5% in cryptogenic cirrhosis) and the overall prevalence was 13.98%. 17589946 2007
dbSNP: rs1800562
rs1800562
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C0162309
Disease:
Adrenoleukodystrophy 		0.010 GeneticVariation BEFREE The aim of the study was to determine the prevalence of C282Y and H63D mutations in patients with ALD and healthy individuals and to analyze laboratory data in the context of HFE gene mutation in ALD patients. 20424537 2010