FGB

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Bleeding and platelet disorders

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Inherited bleeding disorders

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Thrombophilia with a likely monogenic cause

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Disease associations (Open Targets)

• congenital afibrinogenemia

  0.78

• familial dysfibrinogenemia

  0.71

• Familial afibrinogenemia

  0.68

• congenital fibrinogen deficiency

  0.62

• familial hypodysfibrinogenemia

  0.60

• cancer

  0.59

• Noonan syndrome

  0.53

• Costello syndrome

  0.50

• hypertrophic cardiomyopathy

  0.50

• hemorrhage

  0.49

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

Protein function (UniProt)