F9, coagulation factor IX, 2158

N. diseases: 276; N. variants: 99
Disease: Thrombophilia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.150 GeneticVariation disease BEFREE In this issue of Blood, Finn et al have taken a factor IX variant with increased specific activity associated with thrombophilia and used it to improve gene therapy of hemophilia B in dogs, and Cantore et al have shown similar results in mice. 23197580 2012
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.150 GeneticVariation disease BEFREE Here we generated codon-usage optimized and hyperfunctional factor IX (FIX) transgenes carrying an R338L amino acid substitution (FIX Padua), previously associated with clotting hyperactivity and thrombophilia. 23043073 2012
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.150 AlteredExpression disease BEFREE FIX-Triple knock-in mice that exhibited 10-fold higher FIX clotting activity did not show hypercoagulation. 20539913 2010
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.150 GeneticVariation disease BEFREE X-linked thrombophilia with a mutant factor IX (factor IX Padua). 19846852 2009
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.150 GeneticVariation disease BEFREE The association of high levels of coagulation FXI, FIX and FVIII is thus a new rare high-risk inherited thrombophilia syndrome. 14521595 2003
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.150 GeneticVariation disease LHGDN The association of high levels of coagulation FXI, FIX and FVIII is thus a new rare high-risk inherited thrombophilia syndrome. 14521595 2003
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.150 Biomarker disease HPO