COL27A1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Steel syndrome

  0.77

• Dupuytren Contracture

  0.59

• osteoarthritis, knee

  0.51

• arthropathy

  0.50

• hereditary disease

  0.49

• osteoarthritis, hip

  0.47

• Skin ulcer

  0.46

• osteoarthritis

  0.45

• eye disorder

  0.43

• Knee pain

  0.43

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

Protein function (UniProt)

Diseases associated with COL27A1

Curated MONDO disease pages that list COL27A1 among their top associated genes.

• osteoarthritis, kneeRare
• arthropathyRare