MEFV, MEFV innate immuity regulator, pyrin, 4210

N. diseases: 298; N. variants: 32
Disease: Fever ×
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61752717
rs61752717
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0015967
Disease:
Fever 		0.030 GeneticVariation BEFREE Fever and peritonitis are the most frequent signs of homozygous M694V and combine heterozygous mutations. 26215181 2016
dbSNP: rs61752717
rs61752717
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0015967
Disease:
Fever 		0.030 GeneticVariation BEFREE A Turkish patient with episodic fever and thoracic pain is described in whom a homozygous M694V mutation of the MEFV gene confirmed the clinical diagnosis of familial Mediterranean fever. 10667038 2000
dbSNP: rs61752717
rs61752717
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0015967
Disease:
Fever 		0.030 GeneticVariation BEFREE New phenotype-genotype correlations emerged from our study: homozygosity for the M694V mutation was associated with intensity of fever, splenomegaly and with erysipelas-like erythema. 11085810 2000