Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation 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
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation CLINVAR MEFV mutations in Tunisian patients suffering from familial Mediterranean fever. 17276496

2007
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation CLINVAR Over 50 MEditerranean FeVer (MEFV) mutations and polymorphisms have been identified in FMF patients. 17566872

2008
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation 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
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation CLINVAR Unique spectrum of MEFV mutations in Iranian Jewish FMF patients--clinical and demographic significance. 17938136

2007
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation CLINVAR Genetic screening of familial Mediterranean fever mutations in the Palestinian population. 15951859

2005
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation 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
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation 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
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation CLINVAR [Familial Mediterranean Fever (FMF): from diagnosis to treatment]. 15745878

2005
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation 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
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation 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
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation CLINVAR Familial Mediterranean fever associated with MEFV mutations in a large cohort of Cypriot patients. 25393764

2015
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation CLINVAR The spectrum of Familial Mediterranean Fever (FMF) mutations. 11464238

2001
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation 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
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation CLINVAR Renal amyloidosis due to familial mediterranean fever misdiagnosed. 23716950

2012
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation 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
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation 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
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation 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
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation 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
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation 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
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation CLINVAR Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states. 11242116

2001
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation 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
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation 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
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation CLINVAR Simple markers for subclinical inflammation in patients with Familial Mediterranean Fever. 25615955

2015
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation CLINVAR Familial mediterranean Fever: a retrospective clinical and molecular study in the East of anatolia region of Turkey. 20177433

2010