NLRP3, NLR family pyrin domain containing 3, 114548

N. diseases: 805; N. variants: 74
Disease: Muckle-Wells Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908150
rs121908150
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C0268390
Disease:
Muckle-Wells Syndrome 		0.820 GeneticVariation UNIPROT The NLRP3 inflammasome is released as a particulate danger signal that amplifies the inflammatory response. 24952504 2014
dbSNP: rs121908150
rs121908150
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C0268390
Disease:
Muckle-Wells Syndrome 		0.820 GeneticVariation UNIPROT Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene. 15593220 2004
dbSNP: rs121908150
rs121908150
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C0268390
Disease:
Muckle-Wells Syndrome 		0.820 GeneticVariation UNIPROT The R262W variant was also present in the subject with sporadic MWS. 12355493 2002
dbSNP: rs121908150
rs121908150
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C0268390
Disease:
Muckle-Wells Syndrome 		0.820 GeneticVariation UNIPROT The R260W mutation was identified in two families with MWS and in two families with FCU, of different ethnic origins, thereby demonstrating that a single CIAS1 mutation may cause both syndromes. 11992256 2002
dbSNP: rs121908150
rs121908150
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C0268390
Disease:
Muckle-Wells Syndrome 		0.820 GeneticVariation BEFREE The R260W mutation was identified in two families with MWS and in two families with FCU, of different ethnic origins, thereby demonstrating that a single CIAS1 mutation may cause both syndromes. 11992256 2002
dbSNP: rs121908150
rs121908150
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C0268390
Disease:
Muckle-Wells Syndrome 		0.820 GeneticVariation BEFREE The R262W variant was also present in the subject with sporadic MWS. 12355493 2002
dbSNP: rs121908150
rs121908150
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C0268390
Disease:
Muckle-Wells Syndrome 		0.820 GeneticVariation UNIPROT Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. 11687797 2001
dbSNP: rs121908150
rs121908150
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C0268390
Disease:
Muckle-Wells Syndrome 		T 0.820 CausalMutation CLINVAR