NLRP3, NLR family pyrin domain containing 3, 114548

N. diseases: 805; N. variants: 74
Disease: Familial Cold Autoinflammatory Syndrome 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551895
Disease: Familial Cold Autoinflammatory Syndrome 1
Familial Cold Autoinflammatory Syndrome 1 		0.900 Biomarker disease 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
CUI: C4551895
Disease: Familial Cold Autoinflammatory Syndrome 1
Familial Cold Autoinflammatory Syndrome 1 		0.900 GeneticVariation disease UNIPROT The NLRP3 inflammasome is released as a particulate danger signal that amplifies the inflammatory response. 24952504 2014
CUI: C4551895
Disease: Familial Cold Autoinflammatory Syndrome 1
Familial Cold Autoinflammatory Syndrome 1 		0.900 Biomarker disease CTD_human An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome. 25217959 2014
CUI: C4551895
Disease: Familial Cold Autoinflammatory Syndrome 1
Familial Cold Autoinflammatory Syndrome 1 		0.900 GeneticVariation disease 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
CUI: C4551895
Disease: Familial Cold Autoinflammatory Syndrome 1
Familial Cold Autoinflammatory Syndrome 1 		0.900 GeneticVariation disease UNIPROT Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene. 15593220 2004
CUI: C4551895
Disease: Familial Cold Autoinflammatory Syndrome 1
Familial Cold Autoinflammatory Syndrome 1 		0.900 GeneticVariation disease UNIPROT Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P. 12522564 2003
CUI: C4551895
Disease: Familial Cold Autoinflammatory Syndrome 1
Familial Cold Autoinflammatory Syndrome 1 		0.900 Biomarker disease 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
CUI: C4551895
Disease: Familial Cold Autoinflammatory Syndrome 1
Familial Cold Autoinflammatory Syndrome 1 		0.900 Biomarker disease 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
CUI: C4551895
Disease: Familial Cold Autoinflammatory Syndrome 1
Familial Cold Autoinflammatory Syndrome 1 		0.900 Biomarker disease 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
CUI: C4551895
Disease: Familial Cold Autoinflammatory Syndrome 1
Familial Cold Autoinflammatory Syndrome 1 		0.900 GeneticVariation disease UNIPROT New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. 11992256 2002
CUI: C4551895
Disease: Familial Cold Autoinflammatory Syndrome 1
Familial Cold Autoinflammatory Syndrome 1 		0.900 GeneticVariation disease 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
CUI: C4551895
Disease: Familial Cold Autoinflammatory Syndrome 1
Familial Cold Autoinflammatory Syndrome 1 		0.900 GeneticVariation disease UNIPROT Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. 11687797 2001
CUI: C4551895
Disease: Familial Cold Autoinflammatory Syndrome 1
Familial Cold Autoinflammatory Syndrome 1 		0.900 Biomarker disease MGD
CUI: C4551895
Disease: Familial Cold Autoinflammatory Syndrome 1
Familial Cold Autoinflammatory Syndrome 1 		0.900 CausalMutation disease CLINVAR
CUI: C4551895
Disease: Familial Cold Autoinflammatory Syndrome 1
Familial Cold Autoinflammatory Syndrome 1 		0.900 Biomarker disease GENOMICS_ENGLAND