DisGeNET - a database of gene-disease associations

CHD8, chromodomain helicase DNA binding protein 8, 57680

N. diseases: 66; N. variants: 20

Disease: Gastrointestinal Diseases ×

Source: ALL

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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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0017178
Disease:	Gastrointestinal Diseases

Gastrointestinal Diseases

0.300

Biomarker

group

CTD_human

Disruptive CHD8 mutations define a subtype of autism early in development.

2014