TUFT1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Ectodermal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Amelogenesis imperfecta

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• woolly hair-skin fragility syndrome

  0.53

• seborrheic keratosis

  0.38

• skin disorder

  0.24

• skin fragility-woolly hair-palmoplantar keratoderma syndrome

  0.20

• hereditary disease

  0.19

• sebaceous gland disorder

  0.16

• exostosis

  0.16

• hepatocellular carcinoma

  0.11

• pachyonychia congenita

  0.10

• breast cancer

  0.09

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

Protein function (UniProt)