F2, coagulation factor II, thrombin, 2147

N. diseases: 490; N. variants: 42
Disease: Hyperprothrombinemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1867596
Disease: Hyperprothrombinemia
Hyperprothrombinemia 		0.020 GeneticVariation disease BEFREE Among several congenital genetic defects affecting the prothrombin gene, a G-->A mutation at position 20210--the accepted polyadenylation site--has been linked to hyperprothrombinemia and a corresponding increase in venous and arterial thrombotic risk. 12070052 2002
CUI: C1867596
Disease: Hyperprothrombinemia
Hyperprothrombinemia 		0.020 GeneticVariation disease BEFREE Other abnormalities may result in heightened levels of otherwise normal coagulation proteins such as hyperprothrombinemia due to the prothrombin 20210 mutation. 11112387 2000