COL1A1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Ehlers Danlos syndrome with a likely monogenic cause

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Inherited bleeding disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Osteogenesis imperfecta

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Skeletal dysplasia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Thoracic aortic aneurysm or dissection

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Thoracic aortic aneurysm or dissection (GMS)

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

+4 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• osteogenesis imperfecta type 2

  0.85

• osteogenesis imperfecta type 4

  0.84

• osteogenesis imperfecta type 3

  0.84

• osteogenesis imperfecta type 1

  0.83

• osteogenesis imperfecta

  0.81

• Caffey disease

  0.80

• Ehlers-Danlos syndrome, arthrochalasic type

  0.77

• combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1

  0.77

• Ehlers-Danlos syndrome, arthrochalasia type

  0.70

• osteoporosis

  0.70

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Diseases associated with COL1A1

Curated MONDO disease pages that list COL1A1 among their top associated genes.

• musculoskeletal system disorderRare