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: rs151344629
rs151344629
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C0268390
Disease:
Muckle-Wells Syndrome 		0.820 GeneticVariation BEFREE Muckle-Wells Syndrome: A Case Report with an NLRP3 T348M Mutation. 27435956 2016
dbSNP: rs151344629
rs151344629
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: rs151344629
rs151344629
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: rs151344629
rs151344629
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C0268390
Disease:
Muckle-Wells Syndrome 		0.820 GeneticVariation BEFREE In her CIAS1 gene we have found a 1043C-->T, T348M, mutation, which has only been detected in Muckle-Wells syndrome before. 12930324 2003
dbSNP: rs151344629
rs151344629
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C0268390
Disease:
Muckle-Wells Syndrome 		0.820 GeneticVariation UNIPROT New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. 11992256 2002
dbSNP: rs151344629
rs151344629
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C0268390
Disease:
Muckle-Wells Syndrome 		0.820 GeneticVariation UNIPROT Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis. 12355493 2002
dbSNP: rs151344629
rs151344629
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: rs151344629
rs151344629
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C0268390
Disease:
Muckle-Wells Syndrome 		T 0.820 CausalMutation CLINVAR