Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.300 Biomarker CTD_human Macrophage plasma membrane cholesterol contributes to Brucella abortus infection of mice. 12183525

2002

Entrez Id: 5141
Gene Symbol: PDE4A
PDE4A
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.200 Biomarker RGD The effects of increased cAMP content on inflammation, oxidative stress and PDE4 transcripts during Brucella melitensis infection. 17397885

2008

Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 Biomarker 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

Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 GeneticVariation 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

Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 Biomarker 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

Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 Biomarker 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

Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 GeneticVariation 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

Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 GeneticVariation BEFREE The most common MEFV (MEditerranean FeVer) mutation was M694V in FMF patients. 28980897

2018

Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 GeneticVariation 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

Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 GeneticVariation 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

Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 Biomarker BEFREE Carriage of Mediterranean Fever (MEFV) Mutations in Patients with Postpericardiotomy Syndrome (PPS). 28971640

2017

Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 GeneticVariation 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

Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 Biomarker BEFREE Mediterranean fever (MEFV) encodes the pyrin protein and is the causal disease gene in FMF. 25036284

2014

Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 GeneticVariation BEFREE There are speculations as to whether Mediterranean fever (MEFV) mutations are among the genetic determinants of SoJIA. 24862656

2014

Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 Biomarker BEFREE 1.Familial Mediterranean fever (FMF) is considered an autosomal recessive disorder, associated with a single gene named Mediterranean fever (MEFV). 24773260

2014

Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 GeneticVariation 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

Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 GeneticVariation 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

Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 GeneticVariation 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

Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 GeneticVariation 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

Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 GeneticVariation 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

Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 GeneticVariation BEFREE Familial Mediterranean fever (FMF) is an autosomal recessive disease, caused by mutations in the FMF gene MEFV (MEditerranean FeVer). 22019429

2012

Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 Biomarker 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

Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 GeneticVariation BEFREE Genetic analysis was done and heterozygous mutation E148Q was detected as a disease-causing Mediterranean fever (MEFV) mutation. 21210266

2011

Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 Biomarker 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

Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.100 GeneticVariation BEFREE However, in patients without Mediterranean fever (MEFV) mutations, extraintestinal disease frequencies were higher (p<0.05). 19309279

2009