Gene: NLRP3 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs180177433
rs180177433
NLRP3
0.710 GeneticVariation BEFREE CIAS1 sequencing identified the T436I mutation, previously associated to a clinical phenotype of chronic infantile neurological cutaneous and articular/neonatal onset multisystem inflammatory disease. 18080732

2008
dbSNP: rs180177438
rs180177438
NLRP3
0.710 GeneticVariation BEFREE One of them, a 3-yr-old boy, has a 1709A-->G, Y570C, mutation, which has previously been described to cause CINCA syndrome. 12930324

2003
dbSNP: rs180177451
rs180177451
NLRP3
0.010 GeneticVariation BEFREE Neonatal-onset multisystem inflammatory disease (NOMID) due to a novel S331R mutation of the CIAS1 gene and response to interleukin-1 receptor antagonist treatment. 16532456

2006
dbSNP: rs180177468
rs180177468
NLRP3
0.010 GeneticVariation BEFREE In this report we describe a case of severe chronic infantile neurologic, cutaneous, articular (CINCA) syndrome with a novel G307V cryopyrin mutation and all of the characteristic clinical and laboratory features of this autoinflammatory disease. 16802372

2006
dbSNP: rs200758008
rs200758008
NLRP3
0.010 GeneticVariation BEFREE This had initially been regarded as background noise, but in retrospect is completely consistent with somatic mosaicism for the p.F556L NLRP3 mutation in this child with CINCA syndrome. 24431285

2014
dbSNP: rs121908152
rs121908152
NLRP3
C 0.800 CausalMutation CLINVAR

dbSNP: rs121908153
rs121908153
NLRP3
A 0.800 CausalMutation CLINVAR

dbSNP: rs121908154
rs121908154
NLRP3
C 0.800 CausalMutation CLINVAR

dbSNP: rs28937896
rs28937896
NLRP3
C 0.700 CausalMutation CLINVAR

dbSNP: rs121908152
rs121908152
NLRP3
0.800 GeneticVariation UNIPROT Variant chronic infantile neurologic, cutaneous, articular syndrome due to a mutation within the leucine-rich repeat domain of CIAS1. 15334500

2004
dbSNP: rs121908152
rs121908152
NLRP3
0.800 GeneticVariation UNIPROT Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU. 14630794

2004
dbSNP: rs121908152
rs121908152
NLRP3
0.800 GeneticVariation UNIPROT A novel CIAS1 mutation and plasma/cerebrospinal fluid cytokine profile in a German patient with neonatal-onset multisystem inflammatory disease responsive to methotrexate therapy. 15231984

2004
dbSNP: rs121908152
rs121908152
NLRP3
0.800 GeneticVariation UNIPROT The NLRP3 inflammasome is released as a particulate danger signal that amplifies the inflammatory response. 24952504

2014
dbSNP: rs121908152
rs121908152
NLRP3
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: rs121908152
rs121908152
NLRP3
0.800 GeneticVariation UNIPROT Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. 12032915

2002
dbSNP: rs121908152
rs121908152
NLRP3
0.800 GeneticVariation UNIPROT De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. 12483741

2002
dbSNP: rs121908153
rs121908153
NLRP3
0.800 GeneticVariation UNIPROT A novel CIAS1 mutation and plasma/cerebrospinal fluid cytokine profile in a German patient with neonatal-onset multisystem inflammatory disease responsive to methotrexate therapy. 15231984

2004
dbSNP: rs121908153
rs121908153
NLRP3
0.800 GeneticVariation UNIPROT Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. 12032915

2002
dbSNP: rs121908153
rs121908153
NLRP3
0.800 GeneticVariation UNIPROT Variant chronic infantile neurologic, cutaneous, articular syndrome due to a mutation within the leucine-rich repeat domain of CIAS1. 15334500

2004
dbSNP: rs121908153
rs121908153
NLRP3
0.800 GeneticVariation UNIPROT De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. 12483741

2002
dbSNP: rs121908153
rs121908153
NLRP3
0.800 GeneticVariation UNIPROT Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU. 14630794

2004
dbSNP: rs121908153
rs121908153
NLRP3
0.800 GeneticVariation UNIPROT The NLRP3 inflammasome is released as a particulate danger signal that amplifies the inflammatory response. 24952504

2014
dbSNP: rs121908153
rs121908153
NLRP3
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: rs121908154
rs121908154
NLRP3
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: rs121908154
rs121908154
NLRP3
0.800 GeneticVariation UNIPROT A novel CIAS1 mutation and plasma/cerebrospinal fluid cytokine profile in a German patient with neonatal-onset multisystem inflammatory disease responsive to methotrexate therapy. 15231984

2004