COL9A2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Monogenic hearing loss

  BIALLELIC, autosomal or pseudoautosomal

• Multiple Epiphyseal Dysplasia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Retinal disorders

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Stickler syndrome

  BIALLELIC, autosomal or pseudoautosomal

• Clefting

  BIALLELIC, autosomal or pseudoautosomal

+7 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• Stickler syndrome

  0.72

• multiple epiphyseal dysplasia due to collagen 9 anomaly

  0.71

• intervertebral disk degenerative disorder

  0.48

• multiple epiphyseal dysplasia

  0.38

• Stickler syndrom, recessive

  0.38

• hereditary disease

  0.34

• Epiphyseal dysplasia

  0.27

• Intellectual disability

  0.27

• Sensorineural hearing impairment

  0.23

• connective tissue disorder

  0.18

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

Protein function (UniProt)