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: rs121908147
rs121908147
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C0268390
Disease:
Muckle-Wells Syndrome 		0.720 GeneticVariation UNIPROT The NLRP3 inflammasome is released as a particulate danger signal that amplifies the inflammatory response. 24952504 2014
dbSNP: rs121908147
rs121908147
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C0268390
Disease:
Muckle-Wells Syndrome 		0.720 GeneticVariation UNIPROT Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene. 15593220 2004
dbSNP: rs121908147
rs121908147
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C0268390
Disease:
Muckle-Wells Syndrome 		0.720 GeneticVariation BEFREE We reviewed the clinical features of 3 members of a family, all of whom had MWS associated with the NALP3 variant V200M (also designated V198M), and evaluated the response of their inflammatory disease to treatment with the recombinant human IL-1 receptor antagonist anakinra. 14872505 2004
dbSNP: rs121908147
rs121908147
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C0268390
Disease:
Muckle-Wells Syndrome 		0.720 GeneticVariation UNIPROT The V200M variant was present in all affected members of the British family with MWS, in 2 of the 50 subjects with uncharacterized periodic fevers, and in 1 of 130 Caucasian and 2 of 48 Indian healthy controls. 12355493 2002
dbSNP: rs121908147
rs121908147
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C0268390
Disease:
Muckle-Wells Syndrome 		0.720 GeneticVariation BEFREE The V200M variant was present in all affected members of the British family with MWS, in 2 of the 50 subjects with uncharacterized periodic fevers, and in 1 of 130 Caucasian and 2 of 48 Indian healthy controls. 12355493 2002
dbSNP: rs121908147
rs121908147
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C0268390
Disease:
Muckle-Wells Syndrome 		0.720 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: rs121908147
rs121908147
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C0268390
Disease:
Muckle-Wells Syndrome 		0.720 GeneticVariation UNIPROT Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. 11687797 2001