NLRP3, NLR family pyrin domain containing 3, 114548

N. diseases: 805; N. variants: 74
Disease: Chronic Infantile Neurological, Cutaneous, and Articular Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs180177433
rs180177433
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C0409818
Disease:
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 		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: rs180177433
rs180177433
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C0409818
Disease:
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 		0.710 GeneticVariation UNIPROT