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COL5A2

—Collagen Type V Alpha 2 Chain

Chromosome: 2

Location: 2:189030743-189225312

OMIM: 120190

Ensembl: ENSG00000204262

Official·OMIM:120190 Official·ENSG00000204262

Encodes type V collagen alpha-2 chain. Mutations cause classic Ehlers-Danlos syndrome.

Treatment Roadmap — COL5A2

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

Ehlers-Danlos Syndrome (Classic Type)

Autosomal DominantPrevalence: 1/20000connective_tissue

Official·OMIM:130000 Official·ORPHA287

Summary

Clinical Trial

Approved Therapy

Registered Variant