×
Entrez Id:
114548
Gene Symbol:
NLRP3
NLRP3
Familial Cold Autoinflammatory Syndrome 1
0.900
Biomarker
GENOMICS_ENGLAND
Keratoendotheliitis Fugax Hereditaria: A Novel Cryopyrin-Associated Periodic Syndrome Caused by a Mutation in the Nucleotide-Binding Domain, Leucine-Rich Repeat Family, Pyrin Domain-Containing 3 (NLRP3) Gene.
29366613
2018
×
Entrez Id:
114548
Gene Symbol:
NLRP3
NLRP3
Familial Cold Autoinflammatory Syndrome 1
0.900
GeneticVariation
UNIPROT
The NLRP3 inflammasome is released as a particulate danger signal that amplifies the inflammatory response.
24952504
2014
×
Entrez Id:
114548
Gene Symbol:
NLRP3
NLRP3
Familial Cold Autoinflammatory Syndrome 1
0.900
Biomarker
CTD_human
An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome.
25217959
2014
×
Entrez Id:
114548
Gene Symbol:
NLRP3
NLRP3
Familial Cold Autoinflammatory Syndrome 1
0.900
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
×
Entrez Id:
114548
Gene Symbol:
NLRP3
NLRP3
Familial Cold Autoinflammatory Syndrome 1
0.900
GeneticVariation
UNIPROT
Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene.
15593220
2004
×
Entrez Id:
114548
Gene Symbol:
NLRP3
NLRP3
Familial Cold Autoinflammatory Syndrome 1
0.900
GeneticVariation
UNIPROT
Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P.
12522564
2003
×
Entrez Id:
114548
Gene Symbol:
NLRP3
NLRP3
Familial Cold Autoinflammatory Syndrome 1
0.900
Biomarker
CTD_human
Chronic infantile neurological cutaneous articular syndrome: CD10 over-expression in neutrophils is a possible key to the pathogenesis of the disease.
12928894
2003
×
Entrez Id:
114548
Gene Symbol:
NLRP3
NLRP3
Familial Cold Autoinflammatory Syndrome 1
0.900
Biomarker
CTD_human
Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.
12032915
2002
×
Entrez Id:
114548
Gene Symbol:
NLRP3
NLRP3
Familial Cold Autoinflammatory Syndrome 1
0.900
Biomarker
GENOMICS_ENGLAND
Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.
12032915
2002
×
Entrez Id:
114548
Gene Symbol:
NLRP3
NLRP3
Familial Cold Autoinflammatory Syndrome 1
0.900
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
×
Entrez Id:
114548
Gene Symbol:
NLRP3
NLRP3
Familial Cold Autoinflammatory Syndrome 1
0.900
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
×
Entrez Id:
114548
Gene Symbol:
NLRP3
NLRP3
Familial Cold Autoinflammatory Syndrome 1
0.900
GeneticVariation
UNIPROT
Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome.
11687797
2001
×
Entrez Id:
114548
Gene Symbol:
NLRP3
NLRP3
Familial Cold Autoinflammatory Syndrome 1
0.900
Biomarker
MGD
×
Entrez Id:
114548
Gene Symbol:
NLRP3
NLRP3
Familial Cold Autoinflammatory Syndrome 1
0.900
CausalMutation
CLINVAR
×
Entrez Id:
114548
Gene Symbol:
NLRP3
NLRP3
Familial Cold Autoinflammatory Syndrome 1
0.900
Biomarker
GENOMICS_ENGLAND