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F11

Chr 4q35.2

coagulation factor XI

Aliases:
FXI
MANE:
ENST00000403665.7

Annotations refreshed 1 month ago.

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
  • Factor XI deficiency

    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

Disease associations (Open Targets)

  • factor XI deficiency

    0.84
  • congenital factor XI deficiency

    0.77
  • venous thromboembolism

    0.64
  • deep vein thrombosis

    0.57
  • pulmonary embolism

    0.54
  • heart disorder

    0.53
  • phlebitis

    0.53
  • Thrombophlebitis

    0.53
  • hereditary angioedema

    0.52
  • cardiovascular disorder

    0.51

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

Protein function (UniProt)

Coagulation factor XI

Factor XI triggers the middle phase of the intrinsic pathway of blood coagulation by activating factor IX

Curated MONDO disease pages that list F11 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.