MEFV, MEFV innate immuity regulator, pyrin, 4210

N. diseases: 298; N. variants: 32
Disease: Behcet Syndrome ×
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3743930
rs3743930
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0004943
Disease:
Behcet Syndrome 		0.050 GeneticVariation BEFREE The third mutation, E148Q, however, was not found to be linked with BD (pooled OR: 1.26, 95% CI: 0.69-2.31). 26176758 2015
dbSNP: rs3743930
rs3743930
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0004943
Disease:
Behcet Syndrome 		0.050 GeneticVariation BEFREE The frequencies of E148Q and M680I mutations were significantly higher in the BD group (p=0.001, p=0.046, respectively). 23973724 2013
dbSNP: rs3743930
rs3743930
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0004943
Disease:
Behcet Syndrome 		0.050 GeneticVariation BEFREE Fifty-three BD patients who met the International Study Group criteria for BD were analysed for five common MEFV mutations (M694V, V726A, M680I, M694I, and E148Q) using amplification refractory mutation system and polymerase chain reaction (PCR) restriction-digestion testing methods. 21623663 2011
dbSNP: rs3743930
rs3743930
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0004943
Disease:
Behcet Syndrome 		0.050 GeneticVariation BEFREE All BD patients were genotyped using polymerase chain reaction (PCR) and restriction enzyme analysis for the three most common MEFV mutations (M694V, V726A, and E148Q). 17454935 2007
dbSNP: rs3743930
rs3743930
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0004943
Disease:
Behcet Syndrome 		0.050 GeneticVariation BEFREE The M694V, V726A and E148Q mutations tended to be more frequent in definite BD (2.6%, 2.6%, and 5.2%, respectively) than in controls (0%, 0%, and 2.2%). 10980540 2000