KRT14

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ectodermal dysplasia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Ectodermal dysplasia without a known gene mutation

  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

• Ichthyosis and erythrokeratoderma

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Palmoplantar keratoderma and erythrokeratodermas

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Pigmentary skin disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

• epidermolysis bullosa simplex 1A, generalized severe

  0.81

• epidermolysis bullosa simplex 1C, localized

  0.80

• Naegeli-Franceschetti-Jadassohn syndrome

  0.76

• epidermolysis bullosa simplex 1B, generalized intermediate

  0.75

• dermatopathia pigmentosa reticularis

  0.75

• epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive

  0.74

• Epidermolysis bullosa simplex, Dowling-Meara type

  0.73

• Generalized epidermolysis bullosa simplex, non-Dowling-Meara type

  0.69

• Localized epidermolysis bullosa simplex

  0.69

• epidermolysis bullosa simplex

  0.64

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

Protein function (UniProt)