Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial porphyria cutanea tarda
CUI: C0268323
Disease: Familial porphyria cutanea tarda
0.010 GeneticVariation BEFREE Homozygosity for the C282Y hemochromatosis mutation was associated with an earlier onset of skin lesions in both familial and sporadic porphyria cutanea tarda, the effect being more marked in familial porphyria cutanea tarda where anticipation was demonstrated in family studies. 11069625 2000