Source: INFERRED

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 "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 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 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 CausalMutation CLINVAR A rare cause of ascites: Familial Mediterranean fever. 18386244

2008
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 CausalMutation CLINVAR Acute pericarditis as the first manifestation of familial Mediterranean fever: a possible relationship with idiopathic recurrent pericarditis. 25088882

2014
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 CausalMutation CLINVAR Adult autoinflammatory disease frequency and our diagnostic experience in an adult autoinflammatory clinic. 26620106

2016
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation CLINVAR Adult autoinflammatory disease frequency and our diagnostic experience in an adult autoinflammatory clinic. 26620106

2016
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 CausalMutation CLINVAR Among the 23 patients with classical or probable FMF, 17 were homozygotes or compound heterozygotes for pyrin/marenostrin mutations, and in five, only single allele mutations were identified. 10024914

1998
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 CausalMutation CLINVAR Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects. 15018633

2004
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 CausalMutation CLINVAR An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. 22975760

2013
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 CausalMutation CLINVAR An improved electronic microarray-based diagnostic assay for identification of MEFV mutations. 15146467

2004
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 Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium. 9288758

1997
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 CausalMutation CLINVAR Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium. 9288758

1997
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 CausalMutation CLINVAR Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes. 16234278

2006
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 CausalMutation CLINVAR Association between sequence variations of the Mediterranean fever gene and the risk of migraine: a case-control study. 27621632

2016
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 CausalMutation CLINVAR Association of familial Mediterranean fever-related MEFV variations with ankylosing spondylitis. 20669279

2010
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 CausalMutation CLINVAR Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue-a case series and genetic exploration. 27150194

2017
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 CausalMutation CLINVAR Based on a recent molecular analysis of MEFV gene mutations in 43 patients from Crete aiming to correlate specific genotypes and clinical manifestations of FMF, we were prompted to construct a three-dimensional model (3-D model) of the PRYSPRY domain of pyrin. 16730661

2006
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 CausalMutation CLINVAR Bone Mineral Density in Egyptian Children with Familial Mediterranean Fever. 26722138

2016
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 CausalMutation CLINVAR Clinical and molecular diagnosis of Familial Mediterranean Fever in Egyptian children. 17592559

2007