DisGeNET - a database of gene-disease associations

MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE, C4538788

Gene: CNKSR2 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	22866
Gene Symbol:	CNKSR2

CNKSR2

0.400

Biomarker

disease

GENOMICS_ENGLAND

Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum.

2017

Entrez Id:	22866
Gene Symbol:	CNKSR2

CNKSR2

0.400

CausalMutation

disease

CLINVAR