NLRP3, NLR family pyrin domain containing 3, 114548

N. diseases: 805; N. variants: 74
Disease: Cryopyrin-Associated Periodic Syndromes ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908146
rs121908146
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C2316212
Disease:
Cryopyrin-Associated Periodic Syndromes 		0.710 GeneticVariation BEFREE NLRP3 A439V Mutation in a Large Family with Cryopyrin-associated Periodic Syndrome: Description of Ophthalmologic Symptoms in Correlation with Other Organ Symptoms. 27134254 2016
dbSNP: rs121908146
rs121908146
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C2316212
Disease:
Cryopyrin-Associated Periodic Syndromes 		T 0.710 CausalMutation CLINVAR NLRP3 A439V Mutation in a Large Family with Cryopyrin-associated Periodic Syndrome: Description of Ophthalmologic Symptoms in Correlation with Other Organ Symptoms. 27134254 2016
dbSNP: rs121908146
rs121908146
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C2316212
Disease:
Cryopyrin-Associated Periodic Syndromes 		T 0.710 CausalMutation CLINVAR Neurology of the cryopyrin-associated periodic fever syndrome. 26931528 2016
dbSNP: rs121908146
rs121908146
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C2316212
Disease:
Cryopyrin-Associated Periodic Syndromes 		T 0.710 CausalMutation CLINVAR Musculoskeletal symptoms in patients with cryopyrin-associated periodic syndromes: a large database study. 26245507 2015
dbSNP: rs121908146
rs121908146
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C2316212
Disease:
Cryopyrin-Associated Periodic Syndromes 		T 0.710 CausalMutation CLINVAR A functional inflammasome activation assay differentiates patients with pathogenic NLRP3 mutations and symptomatic patients with low penetrance variants. 25596455 2015
dbSNP: rs121908146
rs121908146
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C2316212
Disease:
Cryopyrin-Associated Periodic Syndromes 		T 0.710 CausalMutation CLINVAR Intrafamilial variable phenotypic expression of a CIAS1 mutation: from Muckle-Wells to chronic infantile neurological cutaneous and articular syndrome. 15801036 2005
dbSNP: rs121908146
rs121908146
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C2316212
Disease:
Cryopyrin-Associated Periodic Syndromes 		T 0.710 CausalMutation CLINVAR Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. 11687797 2001