Plasma factor XI deficiency: genes and variants

Genes linked to Plasma factor XI deficiency

• F11: Coagulation factor XI

  Its activated form amplifies thrombin generation through the intrinsic coagulation pathway. Deficiency causes hemophilia C with variable bleeding, while reduced factor XI activity is associated with lower thrombosis risk and is being explored as a safer anticoagulation target.

  34 disease-causing and 25 uncertain variants in F11 are linked to Plasma factor XI deficiency.

Where Plasma factor XI deficiency variants cluster

• F11 Apple 4 (positions 291–374): 7 of 34 disease-causing changes, 1.5× more than its size predicts.

Known disease-causing variants in Plasma factor XI deficiency

Which prediction tools work for Plasma factor XI deficiency

How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).

• SIFT: 88 out of 100

Same protein, different disease

• Hereditary factor XI deficiency disease is also caused by F11 variants; they fall partly in the same places as the Plasma factor XI deficiency variants (48 disease-causing).

Diseases related to Plasma factor XI deficiency

• Hereditary factor XI deficiency disease, also linked to F11

Frequently asked questions

Which genes are linked to Plasma factor XI deficiency?

In CATVariant, Plasma factor XI deficiency is linked to 1 analyzed protein: F11 (Coagulation factor XI).

How many genetic variants are linked to Plasma factor XI deficiency?

59 variants: 34 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 25 are of uncertain significance or have conflicting reports.

Which uncertain variants in Plasma factor XI deficiency look disease-causing?

None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.

Which variant effect predictor works best for Plasma factor XI deficiency?

Among tools not trained on clinical labels, SIFT separates this disease's known disease-causing variants from harmless ones best (AUROC 0.88, based on 30 disease-causing and 8 harmless variants).

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.

Download every variant as CSV · Browse all diseases · Methods · About the Center