CEP83

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Cystic kidney disease

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hydrocephalus

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Rare multisystem ciliopathy disorders

  BIALLELIC, autosomal or pseudoautosomal

• Renal ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Tubulointerstitial kidney disease

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• nephronophthisis 18

  0.75

• nephronophthisis

  0.73

• nephronophthisis 2

  0.37

• Infantile nephronophthisis

  0.37

• ciliopathy

  0.30

• glomerulonephritis

  0.30

• drug allergy

  0.29

• Parkinson disease

  0.29

• deficiency anemia

  0.29

• hyperaldosteronism

  0.29

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

Protein function (UniProt)

Diseases associated with CEP83

Curated MONDO disease pages that list CEP83 among their top associated genes.

• nephronophthisisRare