Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
0.670 | Biomarker | disease | CTD_human |