ZNF408

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Retinal disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Structural eye disease

  Unknown

Disease associations (Open Targets)

• Familial exudative vitreoretinopathy

  0.68

• retinitis pigmentosa

  0.66

• Retinal dystrophy

  0.51

• exudative vitreoretinopathy

  0.47

• neurodegenerative disease

  0.37

• ventricular fibrillation

  0.34

• autosomal recessive retinitis pigmentosa

  0.33

• diabetes mellitus

  0.27

• lymphatic system disorder

  0.20

• vein disorder

  0.20

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

Protein function (UniProt)