Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.010 GeneticVariation disease BEFREE FMF-associated p.Arg761His allele carried with the loss of function TNFAIP3 mutation by all three HA20 patients may contribute to their autoinflammatory phenotype and could also be responsible for their favourable response to colchicine. 31376265 2020