PC, pyruvate carboxylase, 5091

N. diseases: 183; N. variants: 32
Disease: Antithrombin III Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		0.020 Biomarker disease BEFREE A total of 44 subjects completed thrombophilia screening, of whom 5 (11%) were confirmed to have thrombophilia [protein C (PC) deficiency (2), protein S (PS) deficiency (1), combined PC & PS deficiency (1) and antithrombin III deficiency (1)]. 22398278 2012
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		0.020 Biomarker disease BEFREE Although not very frequent, PC and antithrombin deficiency are clearly associated with an increase in thrombosis risk. 7742536 1995