Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1866423
Disease: Quebec platelet disorder
Quebec platelet disorder
0.550 GeneticVariation disease 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: C1866423
Disease: Quebec platelet disorder
Quebec platelet disorder
0.550 GeneticVariation disease BEFREE Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene. 20007542 2010
CUI: C1866423
Disease: Quebec platelet disorder
Quebec platelet disorder
0.550 AlteredExpression disease BEFREE Although QPD CD34(+) progenitors expressed normal amounts of uPA, their differentiation into megakaryocytes abnormally increased expression of the uPA gene but not the flanking genes for vinculin or calcium/calmodulin-dependent protein kinase IIgamma on chromosome 10. 19029443 2009
CUI: C1866423
Disease: Quebec platelet disorder
Quebec platelet disorder
0.550 GeneticVariation disease 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: C1866423
Disease: Quebec platelet disorder
Quebec platelet disorder
0.550 Biomarker disease BEFREE Platelets from patients with the Quebec platelet disorder contain and secrete abnormal amounts of urokinase-type plasminogen activator. 11435291 2001
CUI: C1866423
Disease: Quebec platelet disorder
Quebec platelet disorder
0.550 GermlineCausalMutation disease ORPHANET
CUI: C1866423
Disease: Quebec platelet disorder
Quebec platelet disorder
0.550 Biomarker disease CTD_human