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CHD8

Gene

chromodomain helicase DNA binding protein 8

HGNCHGNC:20153EnsemblENSG00000100888NCBI Gene57680
Locus: gene with protein productLocation: 14q11.2

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asHELSNF1 · KIAA1564 · DUPLIN
View full nomenclature history (4)
Previous symbolsHELSNF1
Alias symbolsKIAA1564, DUPLIN
Previous nameshelicase with SNF2 domain 1

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Autistic Disorder
Genetic Diseases, Inborn
Autism Spectrum Disorder
Neurodevelopmental Disorders
Complex neurodevelopmental disorder
Developmental Disabilities

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

SNF2 related familySmall nucleolar RNA protein coding host genes

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-01-20.
Open TargetsGene–disease associations from the Open Targets Platform.