XPNPEP3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Cystic kidney disease

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  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

• Unexplained kidney failure in young people

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• nephronophthisis-like nephropathy 1

  0.76

• nephronophthisis

  0.74

• late-onset nephronophthisis

  0.37

• bipolar disorder

  0.24

• hereditary disease

  0.19

• myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1

  0.18

• peripheral neuropathy

  0.18

• kidney disorder

  0.18

• appendicitis

  0.14

• acute myeloid leukemia

  0.11

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

Protein function (UniProt)

Diseases associated with XPNPEP3

Curated MONDO disease pages that list XPNPEP3 among their top associated genes.

• nephronophthisisRare