Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.100 Biomarker BEFREE Several lines of evidence point out the relevance of nucleotide-binding oligomerization domain leucine-rich repeat and pyrin domain-containing protein 3 (NLRP3) inflammasome as a pivotal player in the pathophysiology of several neurological and psychiatric diseases (i.e., Parkinson's disease (PD), Alzheimer's disease (AD), multiple sclerosis (MS), amyotrophic lateral sclerosis, and major depressive disorder), metabolic disorders (i.e., obesity and type 2 diabetes) and chronic inflammatory diseases (i.e., intestinal inflammation, arthritis, and gout). 31200447

2019

Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.100 GeneticVariation BEFREE TNFRSF1A and MEFV mutations in childhood onset multiple sclerosis. 28927886

2018

Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.100 Biomarker BEFREE The NOD-like receptor (NLR) family pyrin domain-containing protein 3 (NLRP3) inflammasome is implicated in the pathogenesis of multiple diseases including neuroinflammation associated with multiple sclerosis (MS). 28965161

2018

Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.100 GeneticVariation BEFREE Our results indicate that MEFV gene mutations do not affect the neurologic prognosis in patients with MS. 24712487

2015

Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.100 GeneticVariation BEFREE The results of this study suggest that MEFV gene mutations are positively associated with predisposition to develop MS. 23297013

2013

Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.100 GeneticVariation BEFREE In contrast to recent smaller studies, we did not find an association between carrying a rare variant in the MEFV gene and the risk to develop MS or disease severity. 23325590

2013

Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.100 GeneticVariation BEFREE Also, pyrin mutations were found about 3.5 times higher in the MS patients than the healthy control group. 22406096

2012

Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.100 GeneticVariation BEFREE Frequencies of the pyrin E148Q and K695R mutations were not statistically different between MS group 2 and controls but they occurred with a surprisingly high frequency in the German population. 22337722

2012

Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.100 GeneticVariation BEFREE Homozygosity for the M694V MEFV mutation may aggravate the phenotype of MS and predispose FMF patients to develop MS. 21299735

2011

Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.100 GeneticVariation BEFREE Concurrent TNFRSF1A R92Q and pyrin E230K mutations in a child with multiple sclerosis. 20876156

2010

Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.100 GeneticVariation BEFREE The mean time to reach EDSS score 3.0 was earlier in the patients with MEFV gene mutation (p=0.02) and the relapse rate was slightly higher among the MS patients carrying MEFV gene mutation (p=0.04). 20483145

2010

Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.100 GeneticVariation BEFREE Common mutations in the familial Mediterranean fever gene associate with rapid progression to disability in non-Ashkenazi Jewish multiple sclerosis patients. 12700594

2003