CD46

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Atypical haemolytic uraemic syndrome

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• COVID-19 research

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Unexplained kidney failure in young people

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Membranoproliferative glomerulonephritis including C3 glomerulopathy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

• atypical hemolytic-uremic syndrome with MCP/CD46 anomaly

  0.78

• atypical hemolytic-uremic syndrome

  0.72

• complement deficiency

  0.46

• atypical hemolytic uremic syndrome with complement gene abnormality

  0.37

• thrombotic microangiopathy

  0.34

• degeneration of macula and posterior pole

  0.33

• macular degeneration

  0.32

• retinal disorder

  0.31

• age-related macular degeneration

  0.30

• chondromalacia

  0.28

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

Protein function (UniProt)