HFE, homeostatic iron regulator, 3077

N. diseases: 415; N. variants: 59
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.030 GeneticVariation disease 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
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.030 Biomarker disease BEFREE HFE genotyping was performed in two Caucasian heavy-drinking cohorts (>60 units/wk (M) or 40 units/wk (F) for >5 yr): (a) 254 patients with decompensated ALD (Child's grade B or C), (b) 130 controls with similar alcohol consumption but without liver disease. 16454835 2006
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.030 GeneticVariation disease BEFREE To study the role of hemochromatosis gene mutations on the pathogenesis of alcoholic liver disease (ALD), we have analyzed C282Y and H63D mutations on the chromosomes obtained from 95 Japanese alcoholics. 10235273 1999