DDX59

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

• Neurological ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Ophthalmological ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Rare multisystem ciliopathy disorders

  BIALLELIC, autosomal or pseudoautosomal

• Renal ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• orofaciodigital syndrome V

  0.74

• Orofaciodigital syndrome type 5

  0.66

• Joubert syndrome with orofaciodigital defect

  0.55

• neurodegenerative disease

  0.49

• orofaciodigital syndrome

  0.47

• orofaciodigital syndrome I

  0.46

• coronary artery disorder

  0.38

• polydactyly

  0.37

• coronary atherosclerosis

  0.26

• frozen shoulder

  0.25

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