ZNF469

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Corneal abnormalities

  BIALLELIC, autosomal or pseudoautosomal

• Corneal dystrophy

  BIALLELIC, autosomal or pseudoautosomal

• Ehlers Danlos syndrome with a likely monogenic cause

  BIALLELIC, autosomal or pseudoautosomal

• Thoracic aortic aneurysm or dissection

  BIALLELIC, autosomal or pseudoautosomal

• Thoracic aortic aneurysm or dissection (GMS)

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• brittle cornea syndrome

  0.77

• keratoconus 1

  0.54

• Abnormality of the cardiovascular system

  0.54

• Abnormality of the skeletal system

  0.41

• Ehlers-Danlos syndrome

  0.40

• periapical tissue disease

  0.31

• dental pulp disorder

  0.31

• response to antihypertensive drug

  0.27

• rheumatic disorder

  0.27

• osteoarthritis, knee

  0.27

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

Protein function (UniProt)