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: rs180177438
rs180177438
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C0409818
Disease:
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 		0.710 GeneticVariation BEFREE One of them, a 3-yr-old boy, has a 1709A-->G, Y570C, mutation, which has previously been described to cause CINCA syndrome. 12930324 2003
dbSNP: rs180177438
rs180177438
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C0409818
Disease:
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 		0.710 GeneticVariation UNIPROT