MEFV, MEFV innate immuity regulator, pyrin, 4210

N. diseases: 410; N. variants: 72
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28940578
rs28940578
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0027726
Disease:
Nephrotic Syndrome
T 0.700 CausalMutation CLINVAR The spectrum of familial Mediterranean fever gene mutations in Arabs: report of a large series. 15942916 2005
dbSNP: rs28940580
rs28940580
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0027726
Disease:
Nephrotic Syndrome
0.010 GeneticVariation BEFREE To our knowledge, this is the first association between FMF and the M680I mutation later complicated by nephrotic syndrome and fibrillary glomerulonephritis. 12908875 2003