TGFBI

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Corneal abnormalities

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Corneal dystrophy

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Structural eye disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• lattice corneal dystrophy type I

  0.82

• Reis-Bucklers corneal dystrophy

  0.73

• Reis-Bücklers corneal dystrophy

  0.73

• granular corneal dystrophy type I

  0.72

• granular corneal dystrophy type II

  0.72

• epithelial basement membrane dystrophy

  0.71

• Microcystic corneal dystrophy

  0.71

• Thiel-Behnke corneal dystrophy

  0.70

• epithelial-stromal TGFBI dystrophy

  0.47

• corneal dystrophy

  0.47

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

Protein function (UniProt)

Diseases associated with TGFBI

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

• posterior polymorphous corneal dystrophyRare