MEFV, MEFV innate immuity regulator, pyrin, 4210

N. diseases: 298; N. variants: 32
Disease: Ankylosing spondylitis ×
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61752717
rs61752717
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0038013
Disease:
Ankylosing spondylitis 		0.750 GeneticVariation BEFREE The present study indicates that the MEFV M694V mutation may contribute to the pathogenesis of AS. 28800602 2017
dbSNP: rs61752717
rs61752717
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0038013
Disease:
Ankylosing spondylitis 		0.750 GeneticVariation BEFREE Moreover, M694V is significantly associated with a</span> higher level of erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) in AS patients. 25036284 2014
dbSNP: rs61752717
rs61752717
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0038013
Disease:
Ankylosing spondylitis 		0.750 GeneticVariation BEFREE A relatively higher frequency was observed for M694V mutation in AS patients than controls (10.7% versus 4.2% , p=0.060). 22960328 2012
dbSNP: rs61752717
rs61752717
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0038013
Disease:
Ankylosing spondylitis 		0.750 GeneticVariation BEFREE Therefore, association of M694V with ankylosing spondylitis can be recognized as a geographic region-specific risk factor affecting a common inflammatory pathway in the disease pathogenesis. 21695514 2011
dbSNP: rs61752717
rs61752717
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0038013
Disease:
Ankylosing spondylitis 		0.750 GeneticVariation BEFREE M694V was the only variant that was significantly more common in the AS group than in the combined or individual control groups (P = 0.026 for AS patients versus healthy controls, P = 0.046 for AS patients versus RA patient controls, and P = 0.008 for AS patients versus healthy and RA patient control groups). 20533539 2010