COL4A1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset leukodystrophy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Adult onset neurodegenerative disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Anophthalmia or microphthalmia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Bilateral congenital or childhood onset cataracts

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Cystic kidney disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Early onset or syndromic epilepsy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Familial cerebral small vessel disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

• brain small vessel disease 1 with or without ocular anomalies

  0.84

• autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

  0.80

• Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures

  0.80

• microangiopathy and leukoencephalopathy, pontine, autosomal dominant

  0.73

• schizencephaly

  0.69

• retinal arterial tortuosity

  0.69

• intracerebral hemorrhage

  0.68

• porencephaly

  0.66

• COL4A1-related disorder

  0.64

• Dupuytren Contracture

  0.59

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

Protein function (UniProt)

Diseases associated with COL4A1

Curated MONDO disease pages that list COL4A1 among their top associated genes.

• eye disorderRare
• coronary atherosclerosisRare