NLRP3, NLR family pyrin domain containing 3, 114548

N. diseases: 805; N. variants: 74
Disease: Cryopyrin-Associated Periodic Syndromes ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908153
rs121908153
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C2316212
Disease:
Cryopyrin-Associated Periodic Syndromes 		A 0.710 CausalMutation CLINVAR CARD8 is a negative regulator for NLRP3 inflammasome, but mutant NLRP3 in cryopyrin-associated periodic syndromes escapes the restriction. 24517500 2014
dbSNP: rs121908153
rs121908153
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C2316212
Disease:
Cryopyrin-Associated Periodic Syndromes 		0.710 GeneticVariation BEFREE Recombinant oligomeric protein particles composed of the adaptor ASC or the p.D303N mutant form of NLRP3 associated with cryopyrin-associated periodic syndromes (CAPS) stimulated further activation of caspase-1 extracellularly, as well as intracellularly after phagocytosis by surrounding macrophages. 24952504 2014
dbSNP: rs121908153
rs121908153
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C2316212
Disease:
Cryopyrin-Associated Periodic Syndromes 		A 0.710 CausalMutation CLINVAR Characterization of NLRP3 variants in Japanese cryopyrin-associated periodic syndrome patients. 22193915 2012
dbSNP: rs121908153
rs121908153
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C2316212
Disease:
Cryopyrin-Associated Periodic Syndromes 		A 0.710 CausalMutation CLINVAR Cryopyrin-induced interleukin 1beta secretion in monocytic cells: enhanced activity of disease-associated mutants and requirement for ASC. 15020601 2004
dbSNP: rs121908153
rs121908153
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C2316212
Disease:
Cryopyrin-Associated Periodic Syndromes 		A 0.710 CausalMutation CLINVAR New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. 11992256 2002