Source: ALL

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 Biomarker GENOMICS_ENGLAND

Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GermlineCausalMutation ORPHANET

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 CausalMutation 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 CausalMutation CLINVAR 'Silent' carriage of two familial Mediterranean fever gene mutations in large families with only a single identified patient. 21995303

2012
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 CausalMutation CLINVAR 1Novel MEFV transcripts in Familial Mediterranean fever patients and controls. 20534143

2010
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation BEFREE Familial Mediterranean fever (MIM 249100) is an autosomal recessive disorder affecting mostly populations from the Mediterranean basin and is caused by mutations in the gene MEFV (refs 5,6). 10369262

1999
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation BEFREE FMF is a Mendelian autosomic recessive disease linked to MEFV, a gene of unknown function. 10980540

2000
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation BEFREE Familial Mediterranean Fever (FMF) is caused by mutations in the gene encoding pyrin and is characterized by self-limited, recurrent attacks of fever and serositis. 11182028

2001
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 CausalMutation CLINVAR Familial Mediterranean fever (FMF) is an autosomal recessive disorder caused by mutations in the Mediterranean fever gene (MEFV). 11470495

2001
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation CLINVAR Familial Mediterranean fever (FMF) is an autosomal recessive disorder caused by mutations in the Mediterranean fever gene (MEFV). 11470495

2001
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation UNIPROT Familial Mediterranean fever (FMF) is an autosomal recessive disorder caused by mutations in the Mediterranean fever gene (MEFV). 11470495

2001
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation BEFREE Familial Mediterranean fever (FMF) is an autosomal recessive disorder caused by mutations in the Mediterranean fever gene (MEFV). 11470495

2001
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation BEFREE Familial Mediterranean fever (FMF) is caused by mutations in the MEFV gene.Pathogenesis is poorly understood. 11583827

2001
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation BEFREE Familial Mediterranean Fever: association of elevated IgD plasma levels with specific MEFV mutations. 11781702

2001
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation BEFREE Familial Mediterranean fever is caused by mutations in pyrin, which is the prototype of a new family of proteins belonging to the death-domain superfamily. 12496512

2003
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation BEFREE Familial Mediterranean fever associated pyrin mutations in Greece. 12695165

2003
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation BEFREE Familial Mediterranean fever with amyloidosis associated with novel exon 2 mutation (S1791) of the MEFV gene. 14636645

2004
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation BEFREE Familial Mediterranean fever (FMF) is another inflammatory disorder, which stems from mutations in the FMF gene (MEFV) and shares a number of features with BD. 17454935

2007
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 CausalMutation CLINVAR Familial Mediterranean Fever in Lebanon: founder effects for different MEFV mutations. 17711558

2008
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation LHGDN Familial Mediterranean Fever in Lebanon: founder effects for different MEFV mutations. 17711558

2008
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation BEFREE Familial Mediterranean Fever in Lebanon: founder effects for different MEFV mutations. 17711558

2008
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 Biomarker BEFREE Familial Mediterranean fever (FMF) is a febrile disease characterized by acute, spontaneously resolving episodes of fever and pain caused by serosal inflammation and associated with mutations in the FMF gene, MEFV. 18004180

2007
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation BEFREE Familial Mediterranean fever in three Japanese patients, and a comparison of the frequency of MEFV gene mutations in Japanese and Mediterranean populations. 18097735

2008
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation BEFREE Familial mediterranean fever (FMF) is a hereditary autoinflammatory autosomal recessive disease caused by mutations in the MEFV gene. 18648395

2008