Disease-gene associations mined from literature

Human genes for protein C deficiency

Protein C deficiency [DOID:3756]

Protein C deficiency is a rare genetic trait that predisposes to thrombotic disease. It was first described in 1981. The disease belongs to a group of genetic disorders known as thrombophilias. The prevalence of protein C deficiency has been estimated to about 0.2% to 0.5% of the general population. Protein C deficiency is associated with an increased incidence of venous thromboembolism (relative risk 8-10), whereas no association with arterial thrombotic disease has been found.

Synonyms:  protein C deficiency,  DOID:3756

Linkouts:  OMIM #1 #2