DisGeNET - a database of gene-disease associations

CARD8, caspase recruitment domain family member 8, 22900

N. diseases: 78; N. variants: 9

Disease: Crohn Disease ×

Variant: rs1271727711 ×

Source: ALL

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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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1271727711

Entrez Id:	22900
Gene Symbol:	CARD8

CARD8

CUI:	C0010346
Disease:

Crohn Disease

0.010

GeneticVariation

BEFREE

No association of the CARD8 (TUCAN) c.30T>A (p.C10X) variant with Crohn's disease: a study in 3 independent European cohorts.

18092344

2008