NLRP3, NLR family pyrin domain containing 3, 114548

N. diseases: 805; N. variants: 74
Disease: Overlap syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908146
rs121908146
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C0410000
Disease:
Overlap syndrome 		0.010 GeneticVariation BEFREE The NLRP3 mutation A439V is associated with a heterogeneous clinical spectrum of familial cold autoinflammatory syndrome/MWS-overlap syndrome. 27134254 2016