F2, coagulation factor II, thrombin, 2147

N. diseases: 490; N. variants: 42
Disease: Factor II deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3203356
Disease: Factor II deficiency
Factor II deficiency 		0.400 GeneticVariation disease BEFREE Hypoprothrombinemia (OR 1.676, 95% CI 1.275-2.203) and prothrombin time (PT) prolongation (OR 2.050, 95% CI 1.398-3.005) were significantly associated with NMTT-cephalosporins, whereas bleeding was not (OR 1.359, 95% CI 0.920-2.009). 31623191 2019
CUI: C3203356
Disease: Factor II deficiency
Factor II deficiency 		0.400 Biomarker disease BEFREE Prothrombin may therefore be associated like FV with both a bleeding condition (prothrombin deficiency) and a thrombophilic state (some dysprothrombinemias). 29063359 2018
CUI: C3203356
Disease: Factor II deficiency
Factor II deficiency 		0.400 GermlineCausalMutation disease ORPHANET A novel congenital dysprothrombinemia leading to defective prothrombin maturation. 25242243 2014
CUI: C3203356
Disease: Factor II deficiency
Factor II deficiency 		0.400 GermlineCausalMutation disease ORPHANET Congenital prothrombin deficiency: an update. 23852823 2013
CUI: C3203356
Disease: Factor II deficiency
Factor II deficiency 		0.400 Biomarker disease BEFREE Prothrombin (factor II) deficiency is a rare autosomal recessive coagulation disorder that occurs in approximately 1 in 1-2 million people. 19141155 2008
CUI: C3203356
Disease: Factor II deficiency
Factor II deficiency 		0.400 GeneticVariation disease BEFREE This is the first report of the molecular basis of prothrombin deficiency in Indian patients and we suggest the eponym 'Prothrombin Vellore 1' for Ala362 --> Thr mutation. 15892853 2005
CUI: C3203356
Disease: Factor II deficiency
Factor II deficiency 		0.400 Biomarker disease BEFREE Prothrombin Shanghai: hypoprothrombinaemia caused by substitution of Gla29 by Gly. 14962227 2004
CUI: C3203356
Disease: Factor II deficiency
Factor II deficiency 		0.400 Biomarker disease BEFREE The primary effect of this defect appears to be destabilization of the circulating prothrombin, creating a moderate hypoprothrombinemia. 14629473 2003
CUI: C3203356
Disease: Factor II deficiency
Factor II deficiency 		0.400 AlteredExpression disease BEFREE Therefore, transgenic expression of human prothrombin is sufficient for the rescue of the lethality found for prothrombin deficiency in mice. 12529749 2002
CUI: C3203356
Disease: Factor II deficiency
Factor II deficiency 		0.400 GeneticVariation disease BEFREE Prothrombin carora: hypoprothrombinaemia caused by substitution of Tyr-44 by Cys. 10354129 1999
CUI: C3203356
Disease: Factor II deficiency
Factor II deficiency 		0.400 AlteredExpression disease BEFREE Cases with a parallel decrease in prothrombin activity and antigen should not be considered as examples of hypoprothrombinemia. 9863703 1998
CUI: C3203356
Disease: Factor II deficiency
Factor II deficiency 		0.400 GeneticVariation disease BEFREE The abnormal prothrombin gene of an Italian patient with a severe bleeding tendency and hypoprothrombinemia was selected for study and compared with the prothrombin genes of healthy controls. 9134629 1997
CUI: C3203356
Disease: Factor II deficiency
Factor II deficiency 		0.400 Biomarker disease BEFREE Automated fluorescence-based DNA sequence analysis of amplified genomic DNA was used to define prothrombin gene regions from a patient with severe functional hypoprothrombinemia and little detectable prothrombin antigen. 9351523 1997
CUI: C3203356
Disease: Factor II deficiency
Factor II deficiency 		0.400 GeneticVariation disease BEFREE 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: C3203356
Disease: Factor II deficiency
Factor II deficiency 		0.400 Biomarker disease BEFREE Molecular and genetic analysis of a compound heterozygote for dysprothrombinemia of prothrombin Tokushima and hypoprothrombinemia. 1334372 1992
CUI: C3203356
Disease: Factor II deficiency
Factor II deficiency 		0.400 Biomarker disease BEFREE We suggest that the propositus is heterozygous for an abnormal prothrombin and heterozygous for true prothrombin deficiency. 6409139 1983