CFHR3

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

Disease associations (Open Targets)

• macular degeneration

  0.52

• age-related macular degeneration

  0.42

• complement deficiency

  0.37

• atypical hemolytic-uremic syndrome with I factor anomaly

  0.34

• degeneration of macula and posterior pole

  0.33

• retinal disorder

  0.31

• meningococcal infection

  0.28

• IgA glomerulonephritis

  0.25

• kidney disorder

  0.21

• hepatocellular carcinoma

  0.12

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

Protein function (UniProt)