The information on this page is for informational purposes only and does not constitute medical advice. Consult your genetic counselor or specialist physician for treatment decisions.

SOX9

—SRY-Box Transcription Factor 9

Chromosome: 17

Location: 17:72121013-72126416

OMIM: 608160

Ensembl: ENSG00000125398

Official·OMIM:608160 Official·ENSG00000125398

Encodes cartilage development transcription factor. Mutations cause campomelic dysplasia.

Treatment Roadmap — SOX9

Preclinical

Phase 1

Phase 2

Phase 3

Approved

Clinical trials have approximately 10% success rate. This roadmap shows the current status, not guaranteed outcomes.

Associated Diseases

Campomelic Dysplasia

Autosomal DominantPrevalence: 1/200000skeletal

Official·OMIM:114290 Official·ORPHA140

Summary

Clinical Trial

Approved Therapy

Registered Variant