Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1866423
Disease: Quebec platelet disorder
Quebec platelet disorder
0.670 Biomarker disease CTD_human
CUI: C1866423
Disease: Quebec platelet disorder
Quebec platelet disorder
0.670 AlteredExpression disease BEFREE Although patients with the QPD have normal to increased u-PA levels in their plasma, without evidence of systemic fibrinogenolysis, their increased platelet u-PA could contribute to bleeding by accelerating fibrinolysis within the hemostatic plug. 11435291 2001
CUI: C1866423
Disease: Quebec platelet disorder
Quebec platelet disorder
0.670 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
0.670 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
0.670 GeneticVariation disease BEFREE QPD is the first bleeding disorder to be associated with a gene duplication event and a PLAU mutation. 20007542 2010
CUI: C1866423
Disease: Quebec platelet disorder
Quebec platelet disorder
0.670 Biomarker disease GENOMICS_ENGLAND QPD is the first bleeding disorder to be associated with a gene duplication event and a PLAU mutation. 20007542 2010
CUI: C1866423
Disease: Quebec platelet disorder
Quebec platelet disorder
0.670 GermlineCausalMutation disease ORPHANET QPD is the first bleeding disorder to be associated with a gene duplication event and a PLAU mutation. 20007542 2010
CUI: C1866423
Disease: Quebec platelet disorder
Quebec platelet disorder
0.670 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
0.670 Biomarker disease BEFREE QPD PLAU transcripts were consistent with reference gene models, with a much higher proportion of reads originating from the disease chromosome in megakaryocytes than granulocytes. 28301587 2017
CUI: C1866423
Disease: Quebec platelet disorder
Quebec platelet disorder
0.670 Biomarker disease BEFREE A unique gain-of-function defect in fibrinolysis causes the Quebec platelet disorder (QPD) which is characterized by profibrinolytic platelets containing increased urokinase-type plasminogen activator (uPA) in the α-granules. 31427261 2019