COL11A1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Bilateral congenital or childhood onset cataracts

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Clefting

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• DDG2P

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Monogenic hearing loss

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Retinal disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Skeletal dysplasia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Stickler syndrome

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Stickler syndrome type 2

  0.82

• Marshall syndrome

  0.76

• fibrochondrogenesis 1

  0.74

• fibrochondrogenesis

  0.69

• autosomal dominant nonsyndromic hearing loss

  0.69

• Stickler syndrome

  0.67

• Dupuytren Contracture

  0.59

• osteoarthritis, hip

  0.53

• intervertebral disk degenerative disorder

  0.51

• Sensorineural hearing impairment

  0.51

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

Protein function (UniProt)

Diseases associated with COL11A1

Curated MONDO disease pages that list COL11A1 among their top associated genes.

• eye disorderRare
• osteoarthritisRare
• arthropathyRare
• osteoarthritis, hipRare
• autosomal dominant nonsyndromic hearing lossRare