CFHR5

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• COVID-19 research

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Membranoproliferative glomerulonephritis including C3 glomerulopathy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Unexplained kidney failure in young people

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Atypical haemolytic uraemic syndrome

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Haematuria

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

• C3 glomerulonephritis

  0.68

• chronic kidney disease

  0.56

• complement 3 glomerulopathy

  0.53

• primary membranoproliferative glomerulonephritis

  0.51

• stage 5 chronic kidney disease

  0.46

• age-related macular degeneration

  0.46

• macular degeneration

  0.46

• Proteinuria

  0.46

• atypical hemolytic-uremic syndrome with anti-factor H antibodies

  0.37

• complement deficiency

  0.37

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

Protein function (UniProt)