Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary hemochromatosis
CUI: C0392514
Disease: Hereditary hemochromatosis
0.010 GeneticVariation BEFREE Thus, the Y250X mutation could be the molecular defect responsible for hereditary hemochromatosis in subjects with atypical HFE genotypes. 11358390 2001