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 Combined, our results indicate that the Q283P mutation leads to structural and functional consequences similar to those described for the main hereditary hemochromatosis mutation. 15965644 2005