DisGeNET - a database of gene-disease associations

CHD8, chromodomain helicase DNA binding protein 8, 57680

N. diseases: 66; N. variants: 20

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:

rs28663442

Entrez Id:	57680
Gene Symbol:	CHD8

CHD8

CUI:	C0005890
Disease:

Body Height

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs78484822

Entrez Id:	57680
Gene Symbol:	CHD8

CHD8

CUI:	C0005890
Disease:

Body Height

0.700

GeneticVariation

GWASCAT

Characterizing rare and low-frequency height-associated variants in the Japanese population.

31562340

2019

dbSNP:

rs1555314736

Entrez Id:	57680
Gene Symbol:	CHD8

CHD8

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

28600779

2017

dbSNP:

rs1555314736

Entrez Id:	57680
Gene Symbol:	CHD8

CHD8

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

28475857

2017

dbSNP:

rs1555314736

Entrez Id:	57680
Gene Symbol:	CHD8

CHD8

CUI:	C0000772
Disease:

Multiple congenital anomalies

0.700

GeneticVariation

CLINVAR

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

28600779

2017

dbSNP:

rs1555314736

Entrez Id:	57680
Gene Symbol:	CHD8

CHD8

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

28475857

2017

dbSNP:

rs1555314736

Entrez Id:	57680
Gene Symbol:	CHD8

CHD8

CUI:	C0000772
Disease:

Multiple congenital anomalies

0.700

GeneticVariation

CLINVAR

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

28475857

2017

dbSNP:

rs1555314736

Entrez Id:	57680
Gene Symbol:	CHD8

CHD8

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

28600779

2017

dbSNP:

rs774152851

Entrez Id:	57680;692053
Gene Symbol:	CHD8;SNORD9

CHD8;SNORD9

CUI:	C1849265
Disease:

Overgrowth

0.700

CausalMutation

CLINVAR

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

28475857

2017

dbSNP:

rs774152851

Entrez Id:	57680;692053
Gene Symbol:	CHD8;SNORD9

CHD8;SNORD9

CUI:	C1849265
Disease:

Overgrowth

0.700

CausalMutation

CLINVAR

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

28600779

2017

dbSNP:

rs774152851

Entrez Id:	57680;692053
Gene Symbol:	CHD8;SNORD9

CHD8;SNORD9

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

28475857

2017

dbSNP:

rs774152851

Entrez Id:	57680;692053
Gene Symbol:	CHD8;SNORD9

CHD8;SNORD9

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

28600779

2017

dbSNP:

rs1555313219

Entrez Id:	57680;692053
Gene Symbol:	CHD8;SNORD9

CHD8;SNORD9

CUI:	C3554373
Disease:

AUTISM, SUSCEPTIBILITY TO, 18

0.700

GeneticVariation

CLINVAR

A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.

26789910

2016

dbSNP:

rs1555313219

Entrez Id:	57680;692053
Gene Symbol:	CHD8;SNORD9

CHD8;SNORD9

CUI:	C1843367
Disease:

Poor school performance

0.700

GeneticVariation

CLINVAR

A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.

26789910

2016

dbSNP:

rs1555314736

Entrez Id:	57680
Gene Symbol:	CHD8

CHD8

CUI:	C0000772
Disease:

Multiple congenital anomalies

0.700

GeneticVariation

CLINVAR

De novo genic mutations among a Chinese autism spectrum disorder cohort.

27824329

2016

dbSNP:

rs1555314736

Entrez Id:	57680
Gene Symbol:	CHD8

CHD8

CUI:	C0000772
Disease:

Multiple congenital anomalies

0.700

GeneticVariation

CLINVAR

A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.

26789910

2016

dbSNP:

rs1555314736

Entrez Id:	57680
Gene Symbol:	CHD8

CHD8

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

De novo genic mutations among a Chinese autism spectrum disorder cohort.

27824329

2016

dbSNP:

rs1555314736

Entrez Id:	57680
Gene Symbol:	CHD8

CHD8

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

De novo genic mutations among a Chinese autism spectrum disorder cohort.

27824329

2016

dbSNP:

rs1555314736

Entrez Id:	57680
Gene Symbol:	CHD8

CHD8

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.

26789910

2016

dbSNP:

rs1555314736

Entrez Id:	57680
Gene Symbol:	CHD8

CHD8

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.

26789910

2016

dbSNP:

rs1566446604

Entrez Id:	57680
Gene Symbol:	CHD8

CHD8

CUI:	C1849265
Disease:

Overgrowth

0.700

CausalMutation

CLINVAR

A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.

26789910

2016

dbSNP:

rs1566446604

Entrez Id:	57680
Gene Symbol:	CHD8

CHD8

CUI:	C0013595
Disease:

Eczema

0.700

CausalMutation

CLINVAR

A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.

26789910

2016

dbSNP:

rs1566446604

Entrez Id:	57680
Gene Symbol:	CHD8

CHD8

CUI:	C3554373
Disease:

AUTISM, SUSCEPTIBILITY TO, 18

0.700

CausalMutation

CLINVAR

A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.

26789910

2016

dbSNP:

rs1566446604

Entrez Id:	57680
Gene Symbol:	CHD8

CHD8

CUI:	C1843367
Disease:

Poor school performance

0.700

CausalMutation

CLINVAR

A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.

26789910

2016

dbSNP:

rs1566446604

Entrez Id:	57680
Gene Symbol:	CHD8

CHD8

CUI:	C0004352
Disease:

Autistic Disorder

0.700

CausalMutation

CLINVAR

A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.

26789910

2016