EDAR

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Ectodermal dysplasia

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

• Ectodermal dysplasia without a known gene mutation

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

• Fetal anomalies

  Unknown

Disease associations (Open Targets)

• autosomal recessive hypohidrotic ectodermal dysplasia

  0.82

• hypohidrotic ectodermal dysplasia

  0.81

• ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

  0.76

• autosomal dominant hypohidrotic ectodermal dysplasia

  0.65

• Oligodontia

  0.54

• ectodermal dysplasia syndrome

  0.46

• hereditary disease

  0.45

• mitochondrial DNA depletion syndrome 4a

  0.40

• Alpers syndrome

  0.40

• mitochondrial neurogastrointestinal encephalomyopathy

  0.40

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

Protein function (UniProt)