NPHS2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Proteinuric renal disease

  BIALLELIC, autosomal or pseudoautosomal

• Unexplained kidney failure in young people

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Haematuria

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• nephrotic syndrome

  0.80

• nephrotic syndrome, type 2

  0.75

• familial idiopathic steroid-resistant nephrotic syndrome

  0.64

• steroid-resistant nephrotic syndrome

  0.55

• idiopathic nephrotic syndrome

  0.52

• focal segmental glomerulosclerosis

  0.50

• hereditary disease

  0.49

• Nephrotic range proteinuria

  0.42

• congenital nephrotic syndrome, Finnish type

  0.39

• Proteinuria

  0.38

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

Protein function (UniProt)

Diseases associated with NPHS2

Curated MONDO disease pages that list NPHS2 among their top associated genes.

• nephrotic syndromeRare
• familial idiopathic steroid-resistant nephrotic syndromeRare
• focal segmental glomerulosclerosisRare