NUP133

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Proteinuric renal disease

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Galloway-Mowat syndrome

  0.65

• nephrotic syndrome

  0.64

• HIV infectious disease

  0.54

• influenza

  0.54

• viral infectious disease

  0.53

• Histiocytosis

  0.37

• familial idiopathic steroid-resistant nephrotic syndrome

  0.37

• COVID-19

  0.37

• diabetes mellitus

  0.36

• type 2 diabetes mellitus

  0.30

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

Protein function (UniProt)

Diseases associated with NUP133

Curated MONDO disease pages that list NUP133 among their top associated genes.

• nephrotic syndromeRare