COL5A1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Cerebral vascular malformations

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Ehlers Danlos syndrome with a likely monogenic cause

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Inherited bleeding disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Thoracic aortic aneurysm or dissection

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Thoracic aortic aneurysm or dissection (GMS)

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Bleeding and platelet disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Paediatric disorders - additional genes

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

+5 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• Ehlers-Danlos syndrome, classic type, 1

  0.80

• Ehlers-Danlos syndrome, classic type

  0.76

• fibromuscular dysplasia, multifocal

  0.75

• Ehlers-Danlos syndrome type 1

  0.64

• Ehlers-Danlos syndrome

  0.64

• Dupuytren Contracture

  0.59

• familial thoracic aortic aneurysm and aortic dissection

  0.57

• Rare disease with thoracic aortic aneurysm and aortic dissection

  0.53

• Skin ulcer

  0.46

• keratoconus

  0.45

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

Protein function (UniProt)