WDPCP

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Limb disorders

  BIALLELIC, autosomal or pseudoautosomal

• Ophthalmological ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Rare multisystem ciliopathy disorders

  BIALLELIC, autosomal or pseudoautosomal

• Renal ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Retinal disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Bardet-Biedl syndrome 15

  0.72

• Bardet-Biedl syndrome

  0.71

• Heart defect-tongue hamartoma-polysyndactyly syndrome

  0.70

• heart defect - tongue hamartoma - polysyndactyly syndrome

  0.67

• Meckel syndrome

  0.52

• hereditary disease

  0.47

• prostate carcinoma

  0.45

• orofaciodigital syndrome

  0.45

• Bardet-Biedl syndrome 1

  0.38

• ciliopathy

  0.38

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

Protein function (UniProt)