DisGeNET - a database of gene-disease associations

Epileptic encephalopathy, C0543888

Gene: CHD2 ×

Source: CURATED ×

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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:	1106
Gene Symbol:	CHD2

CHD2

0.430

Biomarker

disease

GENOMICS_ENGLAND

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

2013

Entrez Id:	1106
Gene Symbol:	CHD2

CHD2

0.430

Biomarker

disease

GENOMICS_ENGLAND