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 BEFREE Familial Mediterranean fever (FMF) is autoinflammatory disorder, characterized by MEFV gene mutations and recurrent episodes of fever and serosal or synovial inflammation. 23182715 2013
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
1.000 GeneticVariation disease BEFREE Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by mutations of the MEFV gene. 23463692 2014
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
1.000 GeneticVariation disease BEFREE Familial Mediterranean fever (FMF) is an autosomal-recessive autoinflammatory disease due to mutations in MEFV. 23508419 2013
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
1.000 GeneticVariation disease BEFREE Familial Mediterranean fever (FMF) is an autoinflammatory autosomal recessive disease caused by mutations of the Mediterranean fever (MEFV) gene on chromosome 16p. 23710607 2013
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
1.000 GeneticVariation disease BEFREE Familial Mediterranean fever (MEFV) is a typical periodic fever syndrome and MEFV gene mutations may contribute to the clinical features of certain rheumatic diseases. 24064016 2013
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
1.000 GeneticVariation disease BEFREE Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by MEditerranean FeVer gene (MEFV) mutations. 24797171 2014
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
1.000 GeneticVariation disease BEFREE 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 BEFREE Familial Mediterranean fever with a single MEFV mutation: comparison of rare and common mutations in a Turkish paediatric cohort. 26005881 2016
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
1.000 GeneticVariation disease BEFREE Familial mediterranean fever (FMF) and Cryopyrin associated periodic syndromes (CAPS) are two prototypical hereditary autoinflammatory diseases, characterized by recurrent episodes of fever and inflammation as a result of mutations in MEFV and NLRP3 genes encoding Pyrin and Cryopyrin proteins, respectively. 26161132 2015
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
1.000 GeneticVariation disease BEFREE Familial Mediterranean fever (FMF) is a rare hereditary autoinflammatory disorder that is caused by pyrin gene mutation associated with aberrance of the interleukin (IL)-1β pathway and characterized by recurrent, self-limiting attacks of fever and other inflammatory symptoms. 26332735 2016
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
1.000 GeneticVariation disease BEFREE Familial Mediterranean fever (FMF) is an autoinflammatory disorder caused by pyrin-encoding MEFV mutations. 27333294 2016
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
1.000 GeneticVariation disease BEFREE Familial Mediterranean fever (FMF) related MEFV gene variations may contribute to the pathogenesis of metabolic syndrome. 27467001 2016
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
1.000 GeneticVariation disease BEFREE Familial Mediterranean fever (FMF, OMIM 249100) is the most common hereditary fever, resulting from mutations in MEFV. 27956278 2017
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
1.000 GeneticVariation disease BEFREE Familial Mediterranean fever with P369S/R408Q exon3 variant in pyrin presenting as symptoms of PFAPA. 28001092 2017
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
1.000 GeneticVariation disease BEFREE Familial Mediterranean fever (FMF) is an IL-1β-dependent autoinflammatory disease caused by mutations of Mediterranean fever (MEFV) encoding pyrin and characterized by inflammatory attacks induced by physical or psychological stress. 28342915 2017
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
1.000 GeneticVariation disease BEFREE FMF is caused by mutations in the <i>MEFV</i> gene coding for pyrin, which is a component of inflammasome functioning in inflammatory response and production of interleukin-1β (IL-1β). 28386255 2017
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
1.000 GeneticVariation disease BEFREE Familial Mediterranean fever (FMF), an autosomal recessive and rare autoinflammatory disease is caused by genetic mutations in the MEFV gene and is highly prevalent in the Mediterranean basin. 28597968 2018
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
1.000 GeneticVariation disease BEFREE Familial Mediterranean fever (FMF) is a periodic fever syndrome caused by MEFV mutations. 29363386 2018
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
1.000 GeneticVariation disease BEFREE Familial Mediterranean fever (FMF) is an autosomal recessive disease due to a MEFV gene mutation. 29379228 2017
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
1.000 GeneticVariation disease BEFREE Familial Mediterranean fever (FMF) is an inherited disorder caused by a number of mutations of the Mediterranean fever (MEFV) gene, coding a protein named pyrin that acts as a major regulatory component of the inflammasome. 30594222 2018
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
1.000 GeneticVariation disease BEFREE Familial Mediterranean fever (FMF) is the most common hereditary monogenic autoinflammatory disease caused by mutations in the MEFV gene. 30714637 2019
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
1.000 GeneticVariation disease BEFREE FMF is associated with mutations in the MEFV gene encoding pyrin and is characterized by recurrent, often stress-provoked attacks of fever and serositis, but sometimes also by chronic subclinical inflammation. 31337526 2019
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
1.000 GeneticVariation disease BEFREE Familial Mediterranean fever (FMF) is a recessive disorder of inflammation caused by mutations in a gene (designated MEFV) on chromosome 16p13.3. 9325049 1997
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
1.000 GeneticVariation disease BEFREE MEFV mutations in multiplex families with familial Mediterranean fever: is a particular genotype necessary for amyloidosis? 10905662 2000
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
1.000 GeneticVariation disease BEFREE Pyrin Q148 is a polymorphism and occurs widely in global terms, and, although it may cause FMF when associated with certain other MEFV mutations, homozygosity for Q148 alone must usually be insufficient to produce FMF in the populations studied. 11588211 2001