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SOX9

Gene

SRY-box transcription factor 9

HGNCHGNC:11204EnsemblENSG00000125398NCBI Gene6662
Locus: gene with protein productLocation: 17q24.3

Also known as

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

Also known asCMD1 · CMPD1 · SRA1
View full nomenclature history (6)
Previous symbolsCMD1, CMPD1
Alias symbolsSRA1
Previous namescampomelic dysplasia, autosomal sex-reversal, SRY (sex determining region Y)-box 9, SRY-box 9

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.

Neurodegenerative Diseases
Colorectal adenocarcinoma
Genetic Diseases, Inborn
Connective Tissue Diseases

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.

SRY-box transcription factors

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2025-11-14.
Open TargetsGene–disease associations from the Open Targets Platform.