EDA

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Ectodermal dysplasia

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Ectodermal dysplasia without a known gene mutation

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Epidermolysis bullosa and congenital skin fragility

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Fetal anomalies

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Intellectual disability

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Peeling skin syndrome

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Rare genetic inflammatory skin disorders

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

• X-linked hypohidrotic ectodermal dysplasia

  0.86

• tooth agenesis, selective, X-linked, 1

  0.80

• tooth agenesis

  0.58

• hypohidrotic ectodermal dysplasia

  0.57

• ectodermal dysplasia syndrome

  0.56

• neurodegenerative disease

  0.50

• Anhidrotic ectodermal dysplasia

  0.50

• autosomal dominant hypohidrotic ectodermal dysplasia

  0.49

• Oligodontia

  0.46

• Selective tooth agenesis

  0.37

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

Protein function (UniProt)