DisGeNET - a database of gene-disease associations

CHD8, chromodomain helicase DNA binding protein 8, 57680

N. diseases: 12; N. variants: 20

Disease: AUTISM, SUSCEPTIBILITY TO, 18 ×

Source: CURATED ×

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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C3554373
Disease:	AUTISM, SUSCEPTIBILITY TO, 18

AUTISM, SUSCEPTIBILITY TO, 18

0.600

Biomarker

disease

GENOMICS_ENGLAND

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

28475857

2017

CUI:	C3554373
Disease:	AUTISM, SUSCEPTIBILITY TO, 18

AUTISM, SUSCEPTIBILITY TO, 18

0.600

GeneticVariation

disease

UNIPROT

Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.

26637798

2015

CUI:	C3554373
Disease:	AUTISM, SUSCEPTIBILITY TO, 18

AUTISM, SUSCEPTIBILITY TO, 18

0.600

GeneticVariation

disease

UNIPROT

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

23160955

2012