Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
1.000 GeneticVariation disease BEFREE Detection of a novel mutation in NLRP3/CIAS1 gene in an Indian child with Neonatal-Onset Multisystem Inflammatory Disease (NOMID). 30066283 2019
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
1.000 Biomarker disease BEFREE Mutated NLRP3 assembles a hyperactive inflammasome, which causes excessive secretion of interleukin (IL)-1β and IL-18 and, ultimately, a spectrum of autoinflammatory disorders known as cryopyrinopathies of which neonatal-onset multisystem inflammatory disease (NOMID) is the most severe phenotype. 30388107 2018
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
1.000 AlteredExpression disease BEFREE Thus, activation of NLRP3 in hematopoietic cells initiates IL-1β-driven paracrine cascades, which promote abnormal growth plate development in NOMID mice. 28687790 2017
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
1.000 GeneticVariation disease BEFREE Additional phenotypes traditionally associated with NLRP3 mutations like familial cold autoinflammatory syndrome and neonatal onset multisystem inflammatory disease (NOMID), have now also been associated with gain-of-function NLRC4 mutations. 28957823 2017
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
1.000 GeneticVariation disease BEFREE To elucidate the genetic background of a patient with neonatal-onset multisystem inflammatory disease (NOMID) with no NLRP3 mutation. 27788288 2017
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
1.000 Biomarker disease BEFREE Cryopyrin-associated periodic syndromes (CAPS) is a rare group of autoinflammatory disorders that includes familial cold autoinflammatory syndrome or FCAS, Muckle-wells syndrome or MWS, and neonatal-onset multisystem inflammatory disease or NOMID. 26140469 2016
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
1.000 Biomarker disease BEFREE We herein show somatic NLRP3 mosaicism underlying MWS, probably representing a shared genetic mechanism in CAPS not restricted to CINCA syndrome. 24326009 2015
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
1.000 Biomarker disease BEFREE This study was undertaken to investigate the effect of mutated NLRP3 on chondrocytes using induced pluripotent stem cells (iPSCs) from patients with NOMID. 25302486 2015
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
1.000 GeneticVariation disease BEFREE This is the first description of somatic NLRP3 mosaicism detected using whole-exome sequencing in a "mutation-negative" patient with CINCA syndrome. 24431285 2014
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
1.000 GeneticVariation disease BEFREE We recently found a high incidence of NLRP3 somatic mosaicism in apparently mutation-negative CINCA/NOMID patients using subcloning and subsequent capillary DNA sequencing. 22279087 2012
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
1.000 Biomarker disease BEFREE We also confirmed that the existing anti-inflammatory compounds inhibited the abnormal IL-1β secretion, indicating that mutant iPS-MPs are applicable for drug screening for CINCA syndrome and other NLRP3-related inflammatory conditions. 22723549 2012
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
1.000 GeneticVariation disease BEFREE The autoinflammatory disorder, Neonatal-onset Multisystem Inflammatory Disease (NOMID) is the most severe phenotype of disorders caused by mutations in CIAS1 that result in increased production and secretion of active IL-1β. 23226210 2012
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
1.000 GeneticVariation disease BEFREE Subcloning and sequencing of NLRP3 was performed in these mutation-negative NOMID/CINCA syndrome patients and their healthy relatives. 21702021 2011
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
1.000 Biomarker disease BEFREE Neonatal-onset multisystem inflammatory disease (NOMID)/chronic infantile neurologic, cutaneous, and arthritis (CINCA) syndrome is the most severe clinical phenotype in the spectrum of cryopyrin- (NLRP3/NALP3) associated periodic syndromes (CAPS). 21538043 2011
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
1.000 GeneticVariation disease BEFREE Cryopyrin-associated periodic syndrome is a category of autoinflammatory disorders caused by mutations of the NLRP3 gene, with chronic infantile neurologic cutaneous and articular syndrome being the severest clinical phenotype. 19931168 2009
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
1.000 GeneticVariation disease BEFREE Cryopyrinopathies are a group of conditions associated to mutations of the gene Cryopyrin that are responsible for a spectrum of diseases (familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and chronic infantile neurological cutaneous and articular syndrome) characterized by a chronic or recurrent systemic inflammation variably associated with a number of clinical features, such as urticarial-like rash, arthritis, sensorineural deafness, and central nervous system and bone involvement. 18368292 2008
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
1.000 GeneticVariation disease 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
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
1.000 GeneticVariation disease BEFREE The autoinflammatory disorders Muckle-Wells syndrome, familial cold urtecaria and chronic infantile neurological cutaneous and articular syndrome are associated with mutations in the NALP3 (Cryopyrin) gene, which is the central platform of the proinflammatory caspase-1 activating complex, named the inflammasome. 17431422 2007
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
1.000 GeneticVariation disease BEFREE The disorder was previously shown to be caused by mutations in CIAS1, encoding a pyrin-like protein also involved in the pathogenesis of Muckle-Wells syndrome (MWS), and chronic infantile neurological cutaneous and articular syndrome (CINCA). 17284928 2007
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
1.000 GeneticVariation disease BEFREE We tested for CIAS1 mutations in 22 patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndrome, 12 with Muckle-Wells syndrome (MWS), 18 with familial cold-induced autoinflammatory syndrome (FCAS), and 3 probands with MWS/FCAS. 17393462 2007
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
1.000 GeneticVariation disease 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
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
1.000 GeneticVariation disease BEFREE We selected 18 patients with neonatal-onset multisystem inflammatory disease (12 with identifiable CIAS1 mutations) to receive anakinra, an interleukin-1-receptor antagonist (1 to 2 mg per kilogram of body weight per day subcutaneously). 16899778 2006
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
1.000 GeneticVariation disease 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
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
1.000 GeneticVariation disease BEFREE Anakinra therapy for CINCA syndrome with a novel mutation in exon 4 of the CIAS1 gene. 16449034 2006
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
1.000 GeneticVariation disease BEFREE Intrafamilial variable phenotypic expression of a CIAS1 mutation: from Muckle-Wells to chronic infantile neurological cutaneous and articular syndrome. 15801036 2005