COL9A1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Clefting

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Monogenic hearing loss

  BIALLELIC, autosomal or pseudoautosomal

• Retinal disorders

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Stickler syndrome

  BIALLELIC, autosomal or pseudoautosomal

• Glaucoma (developmental)

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Disease associations (Open Targets)

• Stickler syndrome

  0.76

• epiphyseal dysplasia, multiple, 6

  0.69

• Stickler syndrom, recessive

  0.60

• multiple epiphyseal dysplasia due to collagen 9 anomaly

  0.47

• connective tissue disorder

  0.44

• hearing loss disorder

  0.40

• multiple epiphyseal dysplasia

  0.38

• Sensorineural hearing impairment

  0.37

• osteoarthritis

  0.35

• hereditary disease

  0.34

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

Protein function (UniProt)

Diseases associated with COL9A1

Curated MONDO disease pages that list COL9A1 among their top associated genes.

• connective tissue disorderRare