MEFV, MEFV innate immuity regulator, pyrin, 4210

N. diseases: 410; N. variants: 72
Disease: Periodic syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0585274
Disease: Periodic syndrome
Periodic syndrome 		0.310 Biomarker disease BEFREE However, the dominant inheritance of the disease, the long fever episodes with a predominant joint involvement, and the resistance to colchicine in these patients raise the question of whether the periodic syndrome seen in this kindred is a true FMF disease with unusual manifestations or rather another MEFV-associated periodic syndrome. 14679589 2004
CUI: C0585274
Disease: Periodic syndrome
Periodic syndrome 		0.310 GermlineCausalMutation disease ORPHANET