NLRP3, NLR family pyrin domain containing 3, 114548

N. diseases: 805; N. variants: 74
Disease: Autoinflammatory Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908147
rs121908147
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C3890737
Disease:
Autoinflammatory Syndrome 		0.010 GeneticVariation BEFREE Periodic fever, mild arthralgias, and reversible moderate and severe organ inflammation associated with the V198M mutation in the CIAS1 gene in three German patients--expanding phenotype of CIAS1 related autoinflammatory syndrome. 15245511 2004