rs104895080, MEFV

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial Mediterranean Fever
CUI: C0031069
Disease: Familial Mediterranean Fever
0.700 GeneticVariation UNIPROT Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever. 25628446 2015
Familial Mediterranean Fever
CUI: C0031069
Disease: Familial Mediterranean Fever
0.700 GeneticVariation UNIPROT Evidence-based recommendations for the practical management of Familial Mediterranean Fever. 23742958 2013
Periodic Fever Syndrome
CUI: C3889979
Disease: Periodic Fever Syndrome
0.010 GeneticVariation BEFREE One patient with HIDS and FMF presented with atypical overlapping PFS clinical manifestations and genetic evaluation showed a unique combination of p.I268T/p.V377I MVK mutations and p.E230K/-MEFV variant. 24233262 2014
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
0.010 GeneticVariation BEFREE Concurrent TNFRSF1A R92Q and pyrin E230K mutations in a child with multiple sclerosis. 20876156 2010