F2, coagulation factor II, thrombin, 2147

N. diseases: 61; N. variants: 24
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4722227
Disease: Hypoprothrombinemias
Hypoprothrombinemias
0.600 Biomarker disease CTD_human A patient with a severe bleeding tendency and hypoprothrombinemia (Factor II activity 2%, Factor II antigen 5%) was screened for the presence of alterations in his prothrombin gene. 7740448 1994
CUI: C4722227
Disease: Hypoprothrombinemias
Hypoprothrombinemias
0.600 Biomarker disease CTD_human The prothrombin sample used was from a heterozygote but contained exclusively a defective prothrombin molecule, since the patient was heterozygous for both dysprothrombinemia and hypoprothrombinemia. 3567158 1987
CUI: C4722227
Disease: Hypoprothrombinemias
Hypoprothrombinemias
0.600 Biomarker disease GENOMICS_ENGLAND