MEFV, MEFV innate immuity regulator, pyrin, 4210

N. diseases: 298; N. variants: 32
Disease: Familial Mediterranean Fever ×
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11466018
rs11466018
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease:
Familial Mediterranean Fever 		0.730 GeneticVariation BEFREE Three Japanese patients (mother and two children) with familial Mediterranean fever associated with compound heterozygosity for L110P/E148Q/M694I and an autosomal true dominant inheritance pattern. 24383976 2013
dbSNP: rs11466018
rs11466018
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease:
Familial Mediterranean Fever 		0.730 GeneticVariation BEFREE A case of familial Mediterranean fever associated with compound heterozygosity for the pyrin variant L110P-E148Q/M680I in Japan. 19967574 2010
dbSNP: rs11466018
rs11466018
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease:
Familial Mediterranean Fever 		0.730 GeneticVariation BEFREE On the other hand, 2 relatives who had never experienced symptoms of FMF were homozygous for L110P-E148Q as well as compound heterozygous for E148Q/E148Q-R761H. 18328141 2008