COL17A1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Amelogenesis imperfecta

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Corneal dystrophy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Epidermolysis bullosa

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Epidermolysis bullosa and congenital skin fragility

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

• epidermolysis bullosa, junctional 4, intermediate

  0.78

• epithelial recurrent erosion dystrophy

  0.72

• junctional epidermolysis bullosa, non-Herlitz type

  0.57

• junctional epidermolysis bullosa

  0.55

• amelogenesis imperfecta type 1A

  0.52

• amelogenesis imperfecta

  0.49

• hereditary disease

  0.42

• late-onset junctional epidermolysis bullosa

  0.39

• Generalized junctional epidermolysis bullosa, non-Herlitz type

  0.39

• generalized junctional epidermolysis bullosa non-Herlitz type

  0.39

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

Protein function (UniProt)