Gene: MEFV ×
Source: INFERRED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		1.000 GeneticVariation disease CLINVAR The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production. 16785446 2006
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		1.000 GeneticVariation disease CLINVAR MEFV mutations in Tunisian patients suffering from familial Mediterranean fever. 17276496 2007
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		1.000 GeneticVariation disease CLINVAR Over 50 MEditerranean FeVer (MEFV) mutations and polymorphisms have been identified in FMF patients. 17566872 2008
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		1.000 GeneticVariation disease CLINVAR An unexpectedly high frequency of MEFV mutations in patients with anti-citrullinated protein antibody-negative palindromic rheumatism. 17665427 2007
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		1.000 GeneticVariation disease CLINVAR Unique spectrum of MEFV mutations in Iranian Jewish FMF patients--clinical and demographic significance. 17938136 2007
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		1.000 GeneticVariation disease CLINVAR Genetic screening of familial Mediterranean fever mutations in the Palestinian population. 15951859 2005
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		1.000 GeneticVariation disease CLINVAR We have analyzed intragenic MEFV SNPs in Spanish and Chueta (descendants of converted Jews) FMF patients and controls, and this constitutes the first systematic survey of normal MEFV SNP haplotype structure and variability. 15024744 2004
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		1.000 GeneticVariation disease CLINVAR Defect of suppression of inflammasome-independent interleukin-8 secretion from SW982 synovial sarcoma cells by familial Mediterranean fever-derived pyrin mutations. 24318677 2014
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		1.000 GeneticVariation disease CLINVAR [Familial Mediterranean Fever (FMF): from diagnosis to treatment]. 15745878 2005
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		1.000 GeneticVariation disease CLINVAR Increased prevalence of MEFV exon 10 variants in Japanese patients with adult-onset Still's disease. 25286988 2015
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		1.000 GeneticVariation disease CLINVAR The present study reports the frequencies of MEFV mutations in 558 Lebanese and 55 Jordanian FMF patients and points out the severity of the M694V frequently observed mutation among these patients. 16378925 2006
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		1.000 GeneticVariation disease CLINVAR Familial Mediterranean fever associated with MEFV mutations in a large cohort of Cypriot patients. 25393764 2015
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		1.000 GeneticVariation disease CLINVAR The spectrum of Familial Mediterranean Fever (FMF) mutations. 11464238 2001
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		1.000 GeneticVariation disease CLINVAR Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease. 23633568 2013
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		1.000 GeneticVariation disease CLINVAR Renal amyloidosis due to familial mediterranean fever misdiagnosed. 23716950 2012
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		1.000 GeneticVariation disease CLINVAR The demonstration of both the diagnostic and prognostic value of MEFV analysis and particular modes of inheritance should lead to new ways for management of FMF-including genetic counseling and therapeutic decisions in affected families. 10364520 1999
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		1.000 GeneticVariation disease CLINVAR We have evaluated seven MEFV mutations in 460 chromosomes of 230 unrelated patients with FMF living in Turkey, using PCR methods. 10612841 2000
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		1.000 GeneticVariation disease CLINVAR Spectrum of mutations and carrier frequency of familial Mediterranean fever gene in the Algerian population. 22019805 2011
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		1.000 GeneticVariation disease CLINVAR Enhanced exon 2 skipping caused by c.910G>A variant and alternative splicing of MEFV genes in two independent cases of familial Mediterranean fever. 21562927 2012
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		1.000 GeneticVariation disease CLINVAR "Comprehensive analysis of a large-scale screen for MEFV gene mutations: do they truly provide a ""heterozygote advantage"" in Turkey?" 21413889 2011
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		1.000 GeneticVariation disease CLINVAR Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states. 11242116 2001
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		1.000 GeneticVariation disease CLINVAR Gene mutations responsible for primary immunodeficiency disorders: A report from the first primary immunodeficiency biobank in Iran. 27980538 2016
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		1.000 GeneticVariation disease CLINVAR Patient management and the association of less common familial Mediterranean fever symptoms with other disorders. 23907647 2014
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		1.000 GeneticVariation disease CLINVAR Simple markers for subclinical inflammation in patients with Familial Mediterranean Fever. 25615955 2015
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		1.000 GeneticVariation disease CLINVAR Familial mediterranean Fever: a retrospective clinical and molecular study in the East of anatolia region of Turkey. 20177433 2010