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COL5A1

—Collagen Type V Alpha 1 Chain

Chromosome: 9

Location: 9:134641724-134844843

OMIM: 120215

Ensembl: ENSG00000130635

Official·OMIM:120215 Official·ENSG00000130635

Encodes type V collagen alpha-1 chain. Mutations cause classic Ehlers-Danlos syndrome.

Treatment Roadmap — COL5A1

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