Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.150 GeneticVariation 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

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.150 GeneticVariation 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

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.150 AlteredExpression BEFREE FIX-Triple knock-in mice that exhibited 10-fold higher FIX clotting activity did not show hypercoagulation. 20539913

2010

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.150 GeneticVariation BEFREE X-linked thrombophilia with a mutant factor IX (factor IX Padua). 19846852

2009

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.150 GeneticVariation BEFREE The association of high levels of coagulation FXI, FIX and FVIII is thus a new rare high-risk inherited thrombophilia syndrome. 14521595

2003