DisGeNET - a database of gene-disease associations

CHD2, chromodomain helicase DNA binding protein 2, 1106

N. diseases: 99; N. variants: 55

Source: ALL

Results per page

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:

rs864309537

Entrez Id:	1106
Gene Symbol:	CHD2

CHD2

CUI:	C3809278
Disease:

EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET

0.800

GeneticVariation

UNIPROT

De novo mutations in moderate or severe intellectual disability.

25356899

2014

dbSNP:

rs864309540

Entrez Id:	1106
Gene Symbol:	CHD2

CHD2

CUI:	C3809278
Disease:

EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET

0.800

GeneticVariation

UNIPROT

De novo mutations in moderate or severe intellectual disability.

25356899

2014

dbSNP:

rs864309537

Entrez Id:	1106
Gene Symbol:	CHD2

CHD2

CUI:	C3809278
Disease:

EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET

0.800

GeneticVariation

UNIPROT

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

23708187

2013

dbSNP:

rs864309540

Entrez Id:	1106
Gene Symbol:	CHD2

CHD2

CUI:	C3809278
Disease:

EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET

0.800

GeneticVariation

UNIPROT

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

23708187

2013

dbSNP:

rs864309537

Entrez Id:	1106
Gene Symbol:	CHD2

CHD2

CUI:	C3809278
Disease:

EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET

0.800

CausalMutation

CLINVAR

dbSNP:

rs864309540

Entrez Id:	1106
Gene Symbol:	CHD2

CHD2

CUI:	C3809278
Disease:

EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET

0.800

CausalMutation

CLINVAR

dbSNP:

rs1044778

Entrez Id:	1106
Gene Symbol:	CHD2

CHD2

CUI:	C1261502
Disease:

Finding of Mean Corpuscular Hemoglobin

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs62023121

Entrez Id:	1106
Gene Symbol:	CHD2

CHD2

CUI:	C1314691
Disease:

Age at menarche

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs7179364

Entrez Id:	1106
Gene Symbol:	CHD2

CHD2

CUI:	C1261502
Disease:

Finding of Mean Corpuscular Hemoglobin

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs11632112

Entrez Id:	1106
Gene Symbol:	CHD2

CHD2

CUI:	C0596887
Disease:

mathematical ability

0.700

GeneticVariation

GWASCAT

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

30038396

2018

dbSNP:

rs1555437424

Entrez Id:	1106
Gene Symbol:	CHD2

CHD2

CUI:	C0376532
Disease:

Epilepsy, Rolandic

0.700

CausalMutation

CLINVAR

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

29358611

2018

dbSNP:

rs1555445693

Entrez Id:	1106
Gene Symbol:	CHD2

CHD2

CUI:	C0376532
Disease:

Epilepsy, Rolandic

0.700

CausalMutation

CLINVAR

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

29358611

2018

dbSNP:

rs62023121

Entrez Id:	1106
Gene Symbol:	CHD2

CHD2

CUI:	C0596887
Disease:

mathematical ability

0.700

GeneticVariation

GWASCAT

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

30038396

2018

dbSNP:

rs62023145

Entrez Id:	1106
Gene Symbol:	CHD2

CHD2

CUI:	C0596887
Disease:

mathematical ability

0.700

GeneticVariation

GWASCAT

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

30038396

2018

dbSNP:

rs755898320

Entrez Id:	1106
Gene Symbol:	CHD2

CHD2

CUI:	C0376532
Disease:

Epilepsy, Rolandic

0.700

CausalMutation

CLINVAR

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

29358611

2018

dbSNP:

rs1555440555

Entrez Id:	1106
Gene Symbol:	CHD2

CHD2

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant.

28960266

2017

dbSNP:

rs1555440555

Entrez Id:	1106
Gene Symbol:	CHD2

CHD2

CUI:	C1849265
Disease:

Overgrowth

0.700

GeneticVariation

CLINVAR

Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant.

28960266

2017

dbSNP:

rs1555445563

Entrez Id:	1106
Gene Symbol:	CHD2

CHD2

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant.

28960266

2017

dbSNP:

rs1555445685

Entrez Id:	1106
Gene Symbol:	CHD2

CHD2

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant.

28960266

2017

dbSNP:

rs797044912

Entrez Id:	1106
Gene Symbol:	CHD2

CHD2

CUI:	C3809278
Disease:

EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET

0.700

CausalMutation

CLINVAR

Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing.

28074849

2017

dbSNP:

rs1555440555

Entrez Id:	1106
Gene Symbol:	CHD2

CHD2

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation.

26754451

2016

dbSNP:

rs1555440555

Entrez Id:	1106
Gene Symbol:	CHD2

CHD2

CUI:	C1849265
Disease:

Overgrowth

0.700

GeneticVariation

CLINVAR

Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation.

26754451

2016

dbSNP:

rs1555445563

Entrez Id:	1106
Gene Symbol:	CHD2

CHD2

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation.

26754451

2016

dbSNP:

rs1555445685

Entrez Id:	1106
Gene Symbol:	CHD2

CHD2

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation.

26754451

2016

dbSNP:

rs797044912

Entrez Id:	1106
Gene Symbol:	CHD2

CHD2

CUI:	C3809278
Disease:

EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET

0.700

CausalMutation

CLINVAR

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

26795593

2016