PLAU, plasminogen activator, urokinase, 5328

N. diseases: 439; N. variants: 8
Disease: Blood Coagulation Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.040 GeneticVariation group BEFREE QPD is the first bleeding disorder identified to be caused by a PLAU mutation and it is also the first bleeding disorder recognized to result from a gene copy number mutation. 21495923 2011
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.040 GeneticVariation group BEFREE QPD is the first bleeding disorder to be associated with a gene duplication event and a PLAU mutation. 20007542 2010
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.040 GeneticVariation group BEFREE Quebec platelet disorder (QPD) is an autosomal dominant bleeding disorder associated with increased urokinase-type plasminogen activator in platelets and alpha-granule protein degradation. 15026313 2004
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.040 GeneticVariation group BEFREE QPD is the only inherited bleeding disorder in humans known to be associated with increased u-PA. 11435291 2001