CDH3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Ectodermal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Ectodermal dysplasia without a known gene mutation

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Retinal disorders

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Glaucoma (developmental)

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• EEM syndrome

  0.78

• congenital hypotrichosis with juvenile macular dystrophy

  0.74

• Hypotrichosis with juvenile macular degeneration

  0.72

• Retinal dystrophy

  0.53

• eye disorder

  0.37

• hypotrichosis

  0.35

• Macular dystrophy

  0.34

• hypotrichosis simplex

  0.33

• hereditary diffuse gastric adenocarcinoma

  0.33

• retinitis pigmentosa

  0.32

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

Protein function (UniProt)