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 CausalMutation CLINVAR Familial Mediterranean Fever in Iran: A Report from FMF Registration Center. 26413094

2015
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation CLINVAR MEFV Gene Profile in Northwest of Iran, Twelve Common MEFV Gene Mutations Analysis in 216 Patients with Familial Mediterranean Fever. 25648235

2015
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 CausalMutation CLINVAR Relationship between clinical findings and genetic mutations in patients with familial Mediterranean fever. 26759267

2015
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation CLINVAR Global epidemiology of Familial Mediterranean fever mutations using population exome sequences. 26247045

2015
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 CausalMutation CLINVAR Usefulness of Small Intestinal Endoscopy in a Case of Adult-onset Familial Mediterranean Fever Associated with Jejunoileitis. 26027984

2015
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation CLINVAR Genetic Profile of Patients with Familial Mediterranean Fever (FMF): Single Center Experience at King Hussein Medical Center (KHMC). 26843738

2015
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation CLINVAR Frequency of mutations in Mediterranean fever gene, with gender and genotype-phenotype correlations in a Turkish population. 26690517

2015
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 CausalMutation 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 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 CausalMutation CLINVAR Familial Mediterranean fever: genotype-phenotype correlations in Japanese patients. 24797171

2014
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 CausalMutation CLINVAR Screening of common and novel familial mediterranean fever mutations in south-east part of Turkey. 24469716

2014
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 CausalMutation CLINVAR The MEFV mutations and their clinical correlations in children with familial Mediterranean fever in southeast Turkey. 24071932

2014
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 CausalMutation CLINVAR Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar. 24123366

2014
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 CausalMutation 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 CausalMutation CLINVAR MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease. 23505238

2014
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 Screening of common and novel familial mediterranean fever mutations in south-east part of Turkey. 24469716

2014
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation CLINVAR Frequency of MEFV gene mutations in Hatay province, Mediterranean region of Turkey and report of a novel missense mutation (I247V). 24929125

2014
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 CausalMutation CLINVAR PFAPA and 12 Common MEFV Gene Mutations Our Clinical Experience. 25793047

2014
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 Genotype-phenotype correlation in Japanese patients with familial Mediterranean fever: differences in genotype and clinical features between Japanese and Mediterranean populations. 25261100

2014
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 CausalMutation CLINVAR Common MEFV gene mutations in Turkish patients with Behcet's disease. 23973724

2013
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 CausalMutation CLINVAR Genotype-phenotype and genotype-origin correlations in children with mediterranean fever in Germany - an AID-net study. 24158885

2013
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		1.000 GeneticVariation CLINVAR The M694V mutation in Armenian-Americans: a 10-year retrospective study of MEFV mutation testing for familial Mediterranean fever at UCLA. 23038988

2013