COL10A1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Skeletal dysplasia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Osteogenesis imperfecta

Disease associations (Open Targets)

• Metaphyseal chondrodysplasia, Schmid type

  0.83

• Schmid metaphyseal chondrodysplasia

  0.80

• myopia

  0.48

• Abnormality of the skeletal system

  0.47

• refractive error

  0.40

• macular degeneration

  0.39

• Abnormality of refraction

  0.33

• carpal tunnel syndrome

  0.29

• dry age related macular degeneration

  0.29

• primary angle-closure glaucoma

  0.29

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

Protein function (UniProt)

Diseases associated with COL10A1

Curated MONDO disease pages that list COL10A1 among their top associated genes.

• myopiaRare