DisGeNET - a database of gene-disease associations

Chronic Infantile Neurological, Cutaneous, and Articular Syndrome, C0409818

Gene: NLRP3 ×

Source: CLINVAR ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121908152

rs121908152

NLRP3

C

0.800

CausalMutation

CLINVAR

dbSNP:

rs121908153

rs121908153

NLRP3

A

0.800

CausalMutation

CLINVAR

dbSNP:

rs121908154

rs121908154

NLRP3

C

0.800

CausalMutation

CLINVAR

dbSNP:

rs28937896

rs28937896

NLRP3

C

0.700

CausalMutation

CLINVAR