MEFV, MEFV innate immuity regulator, pyrin, 4210

N. diseases: 410; N. variants: 72
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 Biomarker disease BEFREE Brucellosis, known as Malta fever or Mediterranean fever, is one of the most common bacterial zoonotic diseases caused by Brucella spp. which can result in serious health issues. 31669529 2020
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 GeneticVariation disease BEFREE Of the MEditerranean FeVer (MEFV) mutations, 150 (24.3%) cases were homozygous, 292 (47.3%) cases were heterozygous, and 175 (28.4%) were compound heterozygous. 31522233 2020
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 Biomarker disease BEFREE In this work, a novel quartz crystal microbalance (QCM) aptasensor is designed for the diagnosis of Brucella melitensis bacteria, which affects the Mediterranean fever (brucellosis) from the zoonotic diseases that are very common in the Middle East Countries. 31036183 2019
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 Biomarker disease BEFREE To date, there is no study in the literature about how to follow-up Mediterranean fever (MEFV) heterozygotes who do not fulfil FMF criteria in the paediatric age group. 29101676 2018
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 GeneticVariation disease BEFREE Odds ratio (OR) with 95% confidence interval (CI) was calculated to assess the association between MEFV gene polymorphisms and AS incidence.The frequency of the G allele of MEFV polymorphism rs3743930 in the AS group was significantly higher than that in the healthy control group (36.64% vs 28.35%, P < .05). 30557972 2018
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 GeneticVariation disease BEFREE The most common MEFV (MEditerranean FeVer) mutation was M694V in FMF patients. 28980897 2018
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 GeneticVariation disease BEFREE We aimed to define the characteristics of FMF patients heterozygous for MEFV (MEditerranean FeVer) mutations in whom colchicine was stopped after a period of treatment, with close follow-up. 27679472 2017
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 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
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 Biomarker disease BEFREE Carriage of Mediterranean Fever (MEFV) Mutations in Patients with Postpericardiotomy Syndrome (PPS). 28971640 2017
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 GeneticVariation disease BEFREE In this study, we investigated whether the full-length MEFV gene (MEFV-fl) and the exon 2-deleted splice isoform (MEFV-d2) expression are associated with or responsible for the clinical conditions of RA. 25730039 2015
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 Biomarker disease BEFREE Mediterranean fever (MEFV) encodes the pyrin protein and is the causal disease gene in FMF. 25036284 2014
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 GeneticVariation disease BEFREE There are speculations as to whether Mediterranean fever (MEFV) mutations are among the genetic determinants of SoJIA. 24862656 2014
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 Biomarker disease BEFREE 1.Familial Mediterranean fever (FMF) is considered an autosomal recessive disorder, associated with a single gene named Mediterranean fever (MEFV). 24773260 2014
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 GeneticVariation disease BEFREE This study assessed whether a rare variant, found in Japanese children showing atypical autoinflammatory syndrome, located in the leucine-rich repeat domain of Nod-like receptor family, pyrin domain containing 3 (NLRP3) with co-existence of Mediterranean fever (MEFV) haplotype variants may contribute to a proinflammatory phenotype using a systematic approach. 23015306 2013
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 GeneticVariation disease BEFREE Ten out of 42 patients had one mutation in homozygosis or two different mutations in heterozygosis in the MEFV gene; 20/42 had a single heterozygous mutation, and 12/42 did not have genetic alterations in MEFV. 22905681 2013
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 GeneticVariation disease BEFREE Recent studies suggest an association between rare variants in Mediterranean fever (MEFV), the gene underlying the auto-inflammatory disorder Familial Mediterranean Fever (FMF), the risk to develop multiple sclerosis (MS) and severity of MS. 23325590 2013
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 GeneticVariation disease BEFREE Mutations of the Mediterranean fever (MEFV) gene, which encodes pyrin protein, leads to familial Mediterranean fever (FMF) and a connection between MEFV mutations and rheumatic diseases has been suggested. 23588594 2013
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 GeneticVariation disease BEFREE The frequency of MEFV gene mutation in patients admitted to hospital with preliminary diagnosis of familian mediterranean fever who undergone a prior appendectomy. 22953644 2012
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 GeneticVariation disease BEFREE Familial Mediterranean fever (FMF) is an autosomal recessive disease, caused by mutations in the FMF gene MEFV (MEditerranean FeVer). 22019429 2012
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 Biomarker disease BEFREE Mutated pyrin is associated with the loss of delicate control of the inflammatory pathways, which results in a prolonged or augmented inflammation that predisposes these patients and carriers of the MEFV mutation to a pro-inflammatory state. 21437693 2011
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 GeneticVariation disease BEFREE Genetic analysis was done and heterozygous mutation E148Q was detected as a disease-causing Mediterranean fever (MEFV) mutation. 21210266 2011
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 Biomarker disease BEFREE The gene responsible for familial Mediterranean Fever (FMF), MEditerranean FeVer (MEFV), was identified two decades ago; however, only recent studies have shed light on its pathogenesis. 19339884 2009
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 GeneticVariation disease BEFREE However, in patients without Mediterranean fever (MEFV) mutations, extraintestinal disease frequencies were higher (p<0.05). 19309279 2009
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 GeneticVariation disease BEFREE Over 50 MEditerranean FeVer (MEFV) mutations and polymorphisms have been identified in FMF patients. 17566872 2008
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 GeneticVariation disease BEFREE The possible heterozygote advantage of MEFV mutations against brucellosis may therefore be a balanced polymorphism, analogous to the protective effect against malaria that maintains high levels of sickle cell trait in sub-Saharan Africa. 17005326 2007