MEFV, MEFV innate immuity regulator, pyrin, 4210

N. diseases: 298; N. variants: 32
Disease: Hereditary Autoinflammatory Diseases ×
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104895105
rs104895105
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0751422
Disease:
Hereditary Autoinflammatory Diseases 		0.010 GeneticVariation BEFREE We conclude that the new H478Y MEFV mutation is the dominant pathological variant causing the inflammatory periodic syndrome in this kindred and that full-length analyses of the MEFV gene are needed to obtain an adequate diagnosis of patients with clinical suspicion of a hereditary periodic fever syndrome, especially those from non-ancestral populations. 14679589 2004