FGG

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

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• familial dysfibrinogenemia

  0.79

• congenital afibrinogenemia

  0.74

• Familial afibrinogenemia

  0.65

• congenital fibrinogen deficiency

  0.62

• familial hypodysfibrinogenemia

  0.60

• cancer

  0.60

• Hypofibrinogenemia

  0.56

• deep vein thrombosis

  0.55

• pulmonary embolism

  0.54

• Noonan syndrome

  0.53

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

Protein function (UniProt)