C3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Atypical haemolytic uraemic syndrome

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• COVID-19 research

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Membranoproliferative glomerulonephritis including C3 glomerulopathy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

• Unexplained kidney failure in young people

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Unexplained young onset end-stage renal disease - additional genes

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Retinal disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• atypical hemolytic-uremic syndrome with C3 anomaly

  0.80

• complement component 3 deficiency

  0.77

• age-related macular degeneration

  0.72

• complement 3 glomerulopathy

  0.60

• atypical hemolytic-uremic syndrome

  0.59

• macular degeneration

  0.57

• age related macular degeneration 9

  0.56

• retinal disorder

  0.54

• paroxysmal nocturnal hemoglobinuria

  0.54

• atrophic macular degeneration

  0.54

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

Protein function (UniProt)

Diseases associated with C3

Curated MONDO disease pages that list C3 among their top associated genes.

• eye disorderRare
• age-related macular degenerationRare
• retinal disorderRare