COL9A3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Monogenic hearing loss

  BIALLELIC, autosomal or pseudoautosomal

• Multiple Epiphyseal Dysplasia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Retinal disorders

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Stickler syndrome

  BIALLELIC, autosomal or pseudoautosomal

• Arthrogryposis

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Clefting

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Disease associations (Open Targets)

• Stickler syndrome

  0.72

• epiphyseal dysplasia, multiple, 3

  0.70

• Stickler syndrome, type 6

  0.65

• Abnormality of the skeletal system

  0.47

• intervertebral disk degenerative disorder

  0.46

• Stickler syndrom, recessive

  0.44

• hereditary disease

  0.42

• presbycusis

  0.38

• multiple epiphyseal dysplasia

  0.37

• multiple epiphyseal dysplasia due to collagen 9 anomaly

  0.37

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

Protein function (UniProt)