Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
0.200 GeneticVariation phenotype 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
0.200 GeneticVariation phenotype BEFREE Familial Mediterranean Fever is a monogenic autoinflammatory disease, secondary to mutation of MEFV gene, and typically expressed with recurrent attacks of fever, serositis, rash, aphthous changes in lips and/or oral mucosa. 31627741 2019
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
0.200 GeneticVariation phenotype BEFREE Their parents were heterozygous for the same mutation p.M680I, however, the mother showed severe symptoms of FMF (recurrent attacks of fever, arthralgia and arthritis, abdominal pain, thoracic pain), the father showed recurrent pustulosis prevalent on the hands and limbs, with arthralgia and abdominal pain. 31443670 2019
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
0.200 GeneticVariation phenotype BEFREE Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by mutations in the MEFV gene and characterized by recurrent episodes of fever and polyserositis. 29151129 2018
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
0.200 GeneticVariation phenotype 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
0.200 GeneticVariation phenotype 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
0.200 GeneticVariation phenotype BEFREE A rare, c.1955G>A, p.Arg652His MEFV gene variant was identified at negligible levels in an early peripheral blood DNA sample, but affected 46 % of the MEFV alleles and was restricted to JAK2-positive, polymorphonuclear and CD3-depleted mononunuclear DNA samples obtained 4 years later, when the patient experienced fever bouts. 26123310 2015
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
0.200 GeneticVariation phenotype 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
0.200 GeneticVariation phenotype BEFREE Patients with two MEFV mutations displayed a shorter duration of fever attacks and higher prevalence of a positive family history than patients carrying one MEFV mutation and genetically negative patients. 22580583 2012
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
0.200 GeneticVariation phenotype BEFREE Familial Mediterranean fever (FMF) is an autoinflammatory disease, characterized by MEFV gene mutations and self-limited recurrent episodes of fever and localized serositis. 22187344 2012
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
0.200 GeneticVariation phenotype BEFREE Familial Mediterranean fever (FMF) is a disease characterized by recurrent, self-limiting fever and serositis and caused by altered pyrin due to mutated MEFV gene. 20217092 2011
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
0.200 Biomarker phenotype BEFREE FMF is characterized by recurrent self-limiting episodes of fever and painful polyserositis. 22019805 2011
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
0.200 GeneticVariation phenotype BEFREE Familial Mediterranean fever (FMF) is an autosomal, recessive disease, attributed to mutations in MEFV gene encoding pyrin, which is characterized by recurrent, acute and self-limiting attacks of fever as well as an increased neutrophil and monocyte apoptosis. 20934406 2010
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
0.200 GeneticVariation phenotype BEFREE Clinical characterization and MEFV genotype of all FMF patients < 16 years of age at disease onset and first presenting with attacks of fever alone were analyzed and compared for age, sex, and disease duration with matched FMF patients presenting with serositis at the onset of the disease. 20194447 2010
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
0.200 GeneticVariation phenotype BEFREE IL-1beta is a cytokine associated with the function of the MEFV gene and thought to be responsible for its symptoms of fever and muscle aches. 20041150 2009
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
0.200 Biomarker phenotype BEFREE Controls were consecutive patients without FMF (n = 141) who had episodes of fever and clinical features mimicking that of FMF. 19193696 2009
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
0.200 GeneticVariation phenotype BEFREE Mutations in pyrin cause the autoinflammatory disorder familial Mediterranean fever (FMF), a syndrome characterized by sporadic and unpredictable attacks of fever and localized severe pain. 18330885 2008
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
0.200 GeneticVariation phenotype BEFREE Familial Mediterranean Fever (FMF) is an autosomal, recessively inherited disease, characterized by recurrent and short attacks of fever with serosal inflammation that are caused by mutations in MEFV gene that encodes pyrin protein. 18177465 2008
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
0.200 GeneticVariation phenotype BEFREE Mutations in MEFV lead to the autoinflammatory disorder, familial Mediterranean fever (FMF, MIM249100), which is characterized by recurrent self-resolving attacks of fever and polyserositis, with no clinical signs of disease in remission. 18725973 2008
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
0.200 GeneticVariation phenotype LHGDN MEFV mutations in patients with familial Mediterranean fever in the Black Sea region of Turkey: Samsun experience [corrected]. 18061974 2008
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
0.200 AlteredExpression phenotype BEFREE The white blood cell count, erythrocyte sedimentation rate, lactic dehydrogenase, and rate of fever and pulse were significantly higher, whereas systolic and diastolic blood pressure and albumin levels were significantly lower in patients with pyrin mutation compared to those without the mutation. 17696266 2007
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
0.200 GeneticVariation phenotype BEFREE MEFV gene mutations cause familial Mediterranean fever in homozygotes, a disease associated with recurrent febrile inflammatory episodes, and death from renal failure and amyloidosis. 17005326 2007
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
0.200 GeneticVariation phenotype 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
0.200 GeneticVariation phenotype BEFREE The role of DNA analysis is discussed with respect to understanding the pathogenesis of the fever and assessing the risk of amyloidosis in specific mutations of the MEFV gene. 10667038 2000
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
0.200 Biomarker phenotype HPO