UROC1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• urocanic aciduria

  0.71

• anorectal malformation

  0.33

• Intellectual disability

  0.23

• retinitis pigmentosa

  0.07

• hepatocellular carcinoma

  0.07

• Familial exudative vitreoretinopathy

  0.06

• Cone rod dystrophy

  0.06

• Leber congenital amaurosis

  0.06

• central areolar choroidal dystrophy

  0.06

• age-related macular degeneration

  0.05

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