NLRP3, NLR family pyrin domain containing 3, 114548

N. diseases: 805; N. variants: 74
Disease: Familial Cold Autoinflammatory Syndrome 1 ×
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: C4551895
Disease:
Familial Cold Autoinflammatory Syndrome 1 		0.800 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: C4551895
Disease:
Familial Cold Autoinflammatory Syndrome 1 		0.800 GeneticVariation UNIPROT A novel missense mutation in CIAS1 encoding the pyrin-like protein, cryopyrin, causes familial cold autoinflammatory syndrome in a family of Ethiopian origin. 17284928 2007
dbSNP: rs121908150
rs121908150
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C4551895
Disease:
Familial Cold Autoinflammatory Syndrome 1 		0.800 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: C4551895
Disease:
Familial Cold Autoinflammatory Syndrome 1 		0.800 GeneticVariation UNIPROT Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P. 12522564 2003
dbSNP: rs121908150
rs121908150
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C4551895
Disease:
Familial Cold Autoinflammatory Syndrome 1 		0.800 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: rs121908150
rs121908150
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C4551895
Disease:
Familial Cold Autoinflammatory Syndrome 1 		0.800 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: rs121908150
rs121908150
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C4551895
Disease:
Familial Cold Autoinflammatory Syndrome 1 		0.800 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: C4551895
Disease:
Familial Cold Autoinflammatory Syndrome 1 		T 0.800 CausalMutation CLINVAR