PROCR

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Thrombophilia with a likely monogenic cause

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

• Inherited bleeding disorders

Disease associations (Open Targets)

• venous thromboembolism

  0.55

• coronary artery disorder

  0.54

• deep vein thrombosis

  0.53

• pulmonary embolism

  0.51

• myocardial infarction

  0.51

• ischemic stroke

  0.49

• Pulmonary Infarction

  0.48

• Thromboembolism

  0.47

• cutaneous melanoma

  0.39

• heart disorder

  0.39

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

Protein function (UniProt)

Diseases associated with PROCR

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

• ischemic strokeRare
• venous thromboembolismRare