COL18A1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Bilateral congenital or childhood onset cataracts

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Retinal disorders

  BIALLELIC, autosomal or pseudoautosomal

• Structural eye disease

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Knobloch syndrome 1

  0.79

• Knobloch syndrome

  0.70

• hereditary glaucoma, primary closed-angle

  0.59

• Dupuytren Contracture

  0.59

• severe early-childhood-onset retinal dystrophy

  0.50

• Retinal dystrophy

  0.48

• Skin ulcer

  0.46

• eye disorder

  0.43

• hereditary disease

  0.42

• cataract

  0.39

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

Protein function (UniProt)