NPHP3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• CAKUT

  BIALLELIC, autosomal or pseudoautosomal

• Cystic kidney disease

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  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)

• nephronophthisis 3

  0.82

• nephronophthisis

  0.80

• renal-hepatic-pancreatic dysplasia 1

  0.78

• NPHP3-related Meckel-like syndrome

  0.78

• renal-hepatic-pancreatic dysplasia

  0.73

• Senior-Loken syndrome

  0.67

• Meckel syndrome

  0.66

• Joubert syndrome and related disorders

  0.52

• nephronophthisis 2

  0.39

• optic atrophy

  0.37

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

Protein function (UniProt)

Diseases associated with NPHP3

Curated MONDO disease pages that list NPHP3 among their top associated genes.

• nephronophthisisRare