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COL1A1

—Collagen Type I Alpha 1 Chain

Chromosome: 17

Location: 17:50184101-50201704

OMIM: 120150

Ensembl: ENSG00000108821

Official·OMIM:120150 Official·ENSG00000108821

Encodes type I collagen alpha-1 chain. Mutations cause osteogenesis imperfecta.

Treatment Roadmap — COL1A1

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

Osteogenesis Imperfecta

Autosomal DominantPrevalence: 1/15000skeletal

Official·OMIM:166200 Official·ORPHA666

Summary

Clinical Trial

Approved Therapy

Registered Variant