QPD
MCID: QBC001
MIFTS: 44

Quebec Platelet Disorder (QPD)

Categories: Blood diseases, Genetic diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Quebec Platelet Disorder

MalaCards integrated aliases for Quebec Platelet Disorder:

Name: Quebec Platelet Disorder 57 12 74 20 58 73 29 13 54 6 44 15 71
Factor V Quebec 57 12 20 58 73
Bdplt5 57 12 73
Qpd 57 20 73
Bleeding Disorder, Platelet-Type, 5; Bdplt5 57
Bleeding Disorder, Platelet-Type, 5 57
Platelet-Type Bleeding Disorder 5 12
Bleeding Disorder Platelet-Type 5 73
Platelet Disorder, Quebec 39

Characteristics:

Orphanet epidemiological data:

58
quebec platelet disorder
Inheritance: Autosomal dominant;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
bleeding is usually delayed-onset after challenge
good response to fibrinolytic inhibitors
prevalence of 1 in 300,000 in quebec


HPO:

31
quebec platelet disorder:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0111050
OMIM® 57 601709
OMIM Phenotypic Series 57 PS231200
MESH via Orphanet 45 C536260
ICD10 via Orphanet 33 D69.1
UMLS via Orphanet 72 C1866423
Orphanet 58 ORPHA220436
MedGen 41 C1866423
UMLS 71 C1866423

Summaries for Quebec Platelet Disorder

OMIM® : 57 Quebec platelet disorder is an autosomal dominant bleeding disorder due to a gain-of-function defect in fibrinolysis. Although affected individuals do not exhibit systemic fibrinolysis, they show delayed onset bleeding after challenge, such as surgery. The hallmark of the disorder is markedly increased PLAU levels within platelets, which causes intraplatelet plasmin generation and secondary degradation of alpha-granule proteins. The disorder shows a favorable therapeutic response to fibrinolytic inhibitors (summary by Diamandis et al., 2009). (601709) (Updated 05-Mar-2021)

MalaCards based summary : Quebec Platelet Disorder, also known as factor v quebec, is related to factor v deficiency and blood platelet disease. An important gene associated with Quebec Platelet Disorder is PLAU (Plasminogen Activator, Urokinase), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Adhesion. Related phenotypes are thrombocytopenia and epistaxis

Disease Ontology : 12 A blood platelet disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degredation that has material basis in heterozygous tandem duplication of the PLAU gene on chromosome 10q22.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 220436DefinitionQuebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds.Visit the Orphanet disease page for more resources.

UniProtKB/Swiss-Prot : 73 Quebec platelet disorder: An autosomal dominant bleeding disorder due to a gain-of-function defect in fibrinolysis. Although affected individuals do not exhibit systemic fibrinolysis, they show delayed onset bleeding after challenge, such as surgery. The hallmark of the disorder is markedly increased PLAU levels within platelets, which causes intraplatelet plasmin generation and secondary degradation of alpha-granule proteins.

Wikipedia : 74 Quebec platelet disorder (QPD) is a rare autosomal dominant bleeding disorder first described in a... more...

Related Diseases for Quebec Platelet Disorder

Diseases related to Quebec Platelet Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 factor v deficiency 32.0 F5 F10
2 blood platelet disease 30.3 SELP RECK PLG MMRN1 F10
3 disseminated intravascular coagulation 29.4 SERPINE1 PLG F5 F10
4 thrombocytopenia 28.9 SPARC SERPINE1 SELP PLG F5 F10
5 intracranial arteriosclerosis 10.3 SERPINE1 SELP
6 amaurosis fugax 10.2 SERPINE1 F5
7 sticky platelet syndrome 10.2 SERPINE1 F5
8 thrombasthenia 10.2 SELP F5
9 catastrophic antiphospholipid syndrome 10.2 SERPINE1 F5
10 medulloadrenal hyperfunction 10.2 SERPINE1 PLG
11 cryptogenic cirrhosis 10.1 SERPINE1 F5
12 meningococcemia 10.1 SERPINE1 F5
13 livedoid vasculitis 10.1 SERPINE1 PLG
14 von willebrand's disease 10.1 SELP CD63 ADAMTSL1
15 perforated corneal ulcer 10.1 PLG PLAU
16 paroxysmal nocturnal hemoglobinuria 10.1 SELP RECK PLAU
17 intracranial embolism 10.1 SELP PLG
18 ischemic colitis 10.1 SERPINE1 F5
19 occlusion precerebral artery 10.1 SELP PLG
20 legg-calve-perthes disease 10.1 SERPINE1 SELP F5
21 portal vein thrombosis 10.0 SERPINE1 SELP F5
22 acquired hemophilia 10.0 F5 F10
23 prothrombin deficiency, congenital 10.0 F5 F10
24 coronary thrombosis 10.0 SERPINE1 SELP PLG
25 sagittal sinus thrombosis 10.0 PLG F5
26 aortic aneurysm, familial abdominal, 1 10.0 SERPINE1 PLG PLAU
27 leech infestation 10.0 PLG F10
28 peripheral vascular disease 10.0 SERPINE1 SELP F5
29 mitral valve stenosis 10.0 SELP PLG
30 fibrinolytic defect 10.0
31 pneumonia 10.0
32 scott syndrome 10.0
33 venous insufficiency 9.9 SERPINE1 SELP PLAU F5
34 carotid artery occlusion 9.9 PLG F5
35 post-thrombotic syndrome 9.9 SERPINE1 PLG F5
36 thrombophlebitis 9.9 SERPINE1 PLG F5
37 glanzmann thrombasthenia 9.9 SELP RECK F10
38 retinal artery occlusion 9.9 SERPINE1 PLG F5
39 retinal vascular occlusion 9.9 SELP PLG F5
40 thrombophilia due to thrombin defect 9.9 SERPINE1 F5 F10
41 factor x deficiency 9.9 F5 F10
42 essential thrombocythemia 9.9 SERPINE1 SELP CD63
43 afibrinogenemia, congenital 9.9 SERPINE1 PLG F10
44 cerebrovascular disease 9.8 SERPINE1 SELP RECK F5
45 patent foramen ovale 9.8 SERPINE1 PLG F5
46 pulmonary embolism 9.8 SERPINE1 PLAU F5 F10
47 factor xiii deficiency 9.8 SERPINE1 F5
48 adult respiratory distress syndrome 9.8 SERPINE1 PLG F5
49 thrombophilia 9.8 SERPINE1 SELP F5 F10
50 antithrombin iii deficiency 9.8 PLG F5 F10

Graphical network of the top 20 diseases related to Quebec Platelet Disorder:



Diseases related to Quebec Platelet Disorder

Symptoms & Phenotypes for Quebec Platelet Disorder

Human phenotypes related to Quebec Platelet Disorder:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 thrombocytopenia 31 HP:0001873
2 epistaxis 31 HP:0000421
3 bruising susceptibility 31 HP:0000978
4 menorrhagia 31 HP:0000132
5 joint hemorrhage 31 HP:0005261
6 impaired epinephrine-induced platelet aggregation 31 HP:0008148

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Hematology:
normal platelet morphology
moderate-severe bleeding tendencies (epistaxis, menorrhagia, hemarthrosis, easy bruisability)
thrombocytopenia, mild
mildly decreased to low-normal platelet count (80-150 x 10(9)/l)
bleeding time normal to mildly prolonged
more

Clinical features from OMIM®:

601709 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Quebec Platelet Disorder:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.1 F5 PLAU PLG RECK SELP SERPINE1

Drugs & Therapeutics for Quebec Platelet Disorder

Search Clinical Trials , NIH Clinical Center for Quebec Platelet Disorder

Cochrane evidence based reviews: quebec platelet disorder

Genetic Tests for Quebec Platelet Disorder

Genetic tests related to Quebec Platelet Disorder:

# Genetic test Affiliating Genes
1 Quebec Platelet Disorder 29 PLAU

Anatomical Context for Quebec Platelet Disorder

Publications for Quebec Platelet Disorder

Articles related to Quebec Platelet Disorder:

(show all 42)
# Title Authors PMID Year
1
Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes. 6 57 54 61
18988861 2009
2
Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene. 6 57 61
20007542 2010
3
Bleeding risks associated with inheritance of the Quebec platelet disorder. 54 57 61
15026313 2004
4
Platelets from patients with the Quebec platelet disorder contain and secrete abnormal amounts of urokinase-type plasminogen activator. 57 54 61
11435291 2001
5
An autosomal dominant, qualitative platelet disorder associated with multimerin deficiency, abnormalities in platelet factor V, thrombospondin, von Willebrand factor, and fibrinogen and an epinephrine aggregation defect. 57 54 61
8652809 1996
6
Factor V Quebec revisited. 57 54 61
8611679 1996
7
Studies of a second family with the Quebec platelet disorder: evidence that the degradation of the alpha-granule membrane and its soluble contents are not secondary to a defect in targeting proteins to alpha-granules. 57 61
9028947 1997
8
Factor V (Quebec): a bleeding diathesis associated with a qualitative platelet Factor V deficiency. 57 61
6480825 1984
9
Impaired platelet procoagulant mechanisms in patients with bleeding disorders. 54 61
19408196 2009
10
Increased expression of urokinase plasminogen activator in Quebec platelet disorder is linked to megakaryocyte differentiation. 61 54
19029443 2009
11
Evaluation of urokinase plasminogen activator in urine from individuals with Quebec platelet disorder. 61 54
18600101 2008
12
Intracellular activation of the fibrinolytic cascade in the Quebec Platelet Disorder. 61 54
12888877 2003
13
Platelet factor V New York: a defect in factor V distinct from that in factor V Quebec resulting in impaired prothrombinase generation. 54 61
11421293 2001
14
Platelet prothrombinase activity and intracellular calcium responses in patients with storage pool deficiency, glycoprotein IIb-IIIa deficiency, or impaired platelet coagulant activity--a comparison with Scott syndrome. 61 54
9057642 1997
15
Megakaryocytes and platelets in alpha-granule disorders. 61 54
9154319 1997
16
Breaking barriers: Quebec platelet disorder. 61
33270854 2020
17
Enhancer-gene rewiring in the pathogenesis of Quebec platelet disorder. 61
32663239 2020
18
Thrombin generation abnormalities in Quebec platelet disorder. 61
32761872 2020
19
Improved platelet counts during prolonged tranexamic therapy for Quebec platelet disorder implicate the underlying fibrinolytic defect as the cause of lower platelet counts. 61
33205919 2020
20
A Comprehensive Review of Congenital Platelet Disorders, Thrombocytopenias and Thrombocytopathies. 61
33274150 2020
21
A case of Quebec platelet disorder with interstitial pneumonia. 61
32658392 2020
22
Management of Quebec Platelet Disorder for Cervical Facet Injections in the Outpatient Setting: A Case Report. 61
32224694 2020
23
Inherited disorders of the fibrinolytic pathway. 61
31427261 2019
24
Erratum: Quebec Platelet Disorder: Update on Pathogenesis, Diagnosis, and Treatment. 61
30641578 2019
25
Thrombopoietin levels in Quebec platelet disorder-Implications for the mechanism of thrombocytopenia. 61
29388746 2018
26
The duplication mutation of Quebec platelet disorder dysregulates PLAU, but not C10orf55, selectively increasing production of normal PLAU transcripts by megakaryocytes but not granulocytes. 61
28301587 2017
27
Improving blood disorder diagnosis: reflections on the challenges. 61
23480102 2013
28
Laboratory testing for bleeding disorders: strategic uses of high and low-yield tests. 61
23480172 2013
29
Proteomics applied to the study of platelet-related diseases: aiding the discovery of novel platelet biomarkers and drug targets. 61
22579745 2012
30
Simultaneous measurement of adenosine triphosphate release and aggregation potentiates human platelet aggregation responses for some subjects, including persons with Quebec platelet disorder. 61
22234747 2012
31
Quebec platelet disorder: update on pathogenesis, diagnosis, and treatment. 61
22102275 2011
32
Quebec platelet disorder. 61
21495923 2011
33
Quebec platelet disorder. 61
20688024 2010
34
Current Strategies in Diagnosis of Inherited Storage Pool Defects. 61
21113247 2010
35
Diagnostic assessment of platelet disorders: what are the challenges to standardization? 61
19408186 2009
36
Inherited trombophilic states and pulmonary embolism. 61
21772860 2009
37
The value of proteomics for the diagnosis of a platelet-related bleeding disorder. 61
18791940 2008
38
Quebec platelet disorder: features, pathogenesis and treatment. 61
18277131 2008
39
Insights into abnormal hemostasis in the Quebec platelet disorder from analyses of clot lysis. 61
16689763 2006
40
Antithrombotic thrombocytes: ectopic expression of urokinase-type plasminogen activator in platelets. 61
12689937 2003
41
Fibrinogen degradation products in patients with the Quebec platelet disorder. 61
9163623 1997
42
Inherited disorders of platelet alpha-granules. 61
16793651 1997

Variations for Quebec Platelet Disorder

ClinVar genetic disease variations for Quebec Platelet Disorder:

6 (show top 50) (show all 65)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LOC110121485 NC_000010.9:g.75329022_75406959dup Duplication Pathogenic 29921 10:75659016-75736953 10:73899258-73977195
2 C10orf55 NM_002658.5(PLAU):c.*3G>A SNV Uncertain significance 300762 rs886047208 10:75676326-75676326 10:73916568-73916568
3 C10orf55 NM_002658.5(PLAU):c.368+6G>C SNV Uncertain significance 300748 rs186447765 10:75672862-75672862 10:73913104-73913104
4 C10orf55 NM_002658.5(PLAU):c.-32+9C>G SNV Uncertain significance 300735 rs538342269 10:75670985-75670985 10:73911227-73911227
5 C10orf55 NM_002658.5(PLAU):c.*176G>T SNV Uncertain significance 300766 rs886047209 10:75676499-75676499 10:73916741-73916741
6 C10orf55 NM_002658.5(PLAU):c.581C>A (p.Ala194Glu) SNV Uncertain significance 300749 rs145865648 10:75673417-75673417 10:73913659-73913659
7 C10orf55 NM_002658.5(PLAU):c.*688C>T SNV Uncertain significance 300774 rs886047211 10:75677011-75677011 10:73917253-73917253
8 C10orf55 NM_002658.5(PLAU):c.*880T>A SNV Uncertain significance 300777 rs886047212 10:75677203-75677203 10:73917445-73917445
9 C10orf55 NM_002658.5(PLAU):c.750G>C (p.Gly250=) SNV Uncertain significance 300755 rs886047207 10:75673807-75673807 10:73914049-73914049
10 C10orf55 NM_002658.5(PLAU):c.*753C>T SNV Uncertain significance 300775 rs545559536 10:75677076-75677076 10:73917318-73917318
11 C10orf55 NM_002658.5(PLAU):c.*900A>G SNV Uncertain significance 300778 rs886047213 10:75677223-75677223 10:73917465-73917465
12 C10orf55 NM_002658.5(PLAU):c.-41G>A SNV Uncertain significance 300733 rs886047204 10:75670967-75670967 10:73911209-73911209
13 C10orf55 NM_002658.5(PLAU):c.*631C>T SNV Uncertain significance 300773 rs886047210 10:75676954-75676954 10:73917196-73917196
14 C10orf55 NM_002658.5(PLAU):c.316G>C (p.Ala106Pro) SNV Uncertain significance 300747 rs886047206 10:75672804-75672804 10:73913046-73913046
15 C10orf55 NM_002658.5(PLAU):c.-32G>A SNV Uncertain significance 300734 rs886047205 10:75670976-75670976 10:73911218-73911218
16 PLAU NM_001145031.2(PLAU):c.*935A>G SNV Uncertain significance 300779 rs886047214 10:75677258-75677258 10:73917500-73917500
17 C10orf55 NM_002658.6(PLAU):c.194A>G (p.Asp65Gly) SNV Uncertain significance 877591 10:75672682-75672682 10:73912924-73912924
18 C10orf55 NM_002658.6(PLAU):c.*309T>C SNV Uncertain significance 877647 10:75676632-75676632 10:73916874-73916874
19 C10orf55 NM_002658.6(PLAU):c.*474G>A SNV Uncertain significance 878666 10:75676797-75676797 10:73917039-73917039
20 C10orf55 NM_002658.6(PLAU):c.*538G>A SNV Uncertain significance 878667 10:75676861-75676861 10:73917103-73917103
21 C10orf55 NM_002658.6(PLAU):c.735C>A (p.Asn245Lys) SNV Uncertain significance 879208 10:75673792-75673792 10:73914034-73914034
22 C10orf55 NM_002658.6(PLAU):c.845G>A (p.Arg282His) SNV Uncertain significance 879210 10:75674549-75674549 10:73914791-73914791
23 C10orf55 NM_002658.6(PLAU):c.*917G>A SNV Uncertain significance 879265 10:75677240-75677240 10:73917482-73917482
24 C10orf55 NM_002658.6(PLAU):c.*921T>C SNV Uncertain significance 879266 10:75677244-75677244 10:73917486-73917486
25 C10orf55 NM_002658.6(PLAU):c.143T>A (p.Ile48Asn) SNV Uncertain significance 880362 10:75672030-75672030 10:73912272-73912272
26 C10orf55 NM_002658.6(PLAU):c.453C>T (p.Cys151=) SNV Likely benign 878608 10:75673132-75673132 10:73913374-73913374
27 C10orf55 NM_002658.6(PLAU):c.236G>C (p.Arg79Pro) SNV Likely benign 877592 10:75672724-75672724 10:73912966-73912966
28 C10orf55 NM_002658.5(PLAU):c.57+6T>C SNV Likely benign 300741 rs770181188 10:75671376-75671376 10:73911618-73911618
29 C10orf55 NM_002658.5(PLAU):c.163A>G (p.Lys55Glu) SNV Benign 300744 rs147372618 10:75672050-75672050 10:73912292-73912292
30 C10orf55 NM_002658.5(PLAU):c.878G>A (p.Arg293Gln) SNV Benign 300757 rs546931331 10:75674582-75674582 10:73914824-73914824
31 C10orf55 NM_002658.5(PLAU):c.1092C>T (p.Asp364=) SNV Benign 300760 rs148333167 10:75675130-75675130 10:73915372-73915372
32 C10orf55 NM_002658.5(PLAU):c.*52T>A SNV Benign 300763 rs560674195 10:75676375-75676375 10:73916617-73916617
33 C10orf55 NM_002658.5(PLAU):c.*355C>T SNV Benign 300769 rs140559980 10:75676678-75676678 10:73916920-73916920
34 C10orf55 NM_002658.5(PLAU):c.*520G>T SNV Benign 300772 rs117134857 10:75676843-75676843 10:73917085-73917085
35 C10orf55 NM_002658.5(PLAU):c.308C>T (p.Thr103Met) SNV Benign 300746 rs370278611 10:75672796-75672796 10:73913038-73913038
36 C10orf55 NM_002658.5(PLAU):c.602G>T (p.Arg201Leu) SNV Benign 300751 rs549461157 10:75673438-75673438 10:73913680-73913680
37 C10orf55 NM_002658.5(PLAU):c.706A>G (p.Ile236Val) SNV Benign 300754 rs150389556 10:75673763-75673763 10:73914005-73914005
38 C10orf55 NM_002658.5(PLAU):c.*444T>A SNV Benign 300771 rs145634997 10:75676767-75676767 10:73917009-73917009
39 C10orf55 NM_002658.5(PLAU):c.*141C>T SNV Benign 300765 rs4065 10:75676464-75676464 10:73916706-73916706
40 C10orf55 NM_002658.5(PLAU):c.*335G>A SNV Benign 300768 rs185909762 10:75676658-75676658 10:73916900-73916900
41 C10orf55 NM_002658.5(PLAU):c.162A>G (p.Pro54=) SNV Benign 300743 rs142059320 10:75672049-75672049 10:73912291-73912291
42 C10orf55 NM_002658.5(PLAU):c.236G>A (p.Arg79Gln) SNV Benign 300745 rs201299522 10:75672724-75672724 10:73912966-73912966
43 C10orf55 NM_002658.5(PLAU):c.*266T>C SNV Benign 300767 rs565576288 10:75676589-75676589 10:73916831-73916831
44 C10orf55 NM_002658.5(PLAU):c.111A>G (p.Gly37=) SNV Benign 300742 rs200927138 10:75671998-75671998 10:73912240-73912240
45 C10orf55 NM_002658.5(PLAU):c.172G>A (p.Gly58Arg) SNV Benign 190258 rs55744193 10:75672059-75672059 10:73912301-73912301
46 C10orf55 NM_002658.5(PLAU):c.1222G>A (p.Val408Ile) SNV Benign 300761 rs200165551 10:75676249-75676249 10:73916491-73916491
47 C10orf55 NM_002658.5(PLAU):c.*60A>C SNV Benign 300764 rs142117323 10:75676383-75676383 10:73916625-73916625
48 C10orf55 NM_002658.5(PLAU):c.581C>T (p.Ala194Val) SNV Benign 300750 rs145865648 10:75673417-75673417 10:73913659-73913659
49 C10orf55 NM_002658.5(PLAU):c.*398C>T SNV Benign 300770 rs190769030 10:75676721-75676721 10:73916963-73916963
50 C10orf55 NM_002658.5(PLAU):c.691A>C (p.Lys231Gln) SNV Benign 300753 rs2227567 10:75673748-75673748 10:73913990-73913990

Copy number variations for Quebec Platelet Disorder from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 45962 10 75670862 75677259 Mutation PLAU Quebec platelet disorder

Expression for Quebec Platelet Disorder

Search GEO for disease gene expression data for Quebec Platelet Disorder.

Pathways for Quebec Platelet Disorder

GO Terms for Quebec Platelet Disorder

Cellular components related to Quebec Platelet Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.06 VCL SPARC SERPINE1 SELP RECK PLG
2 extracellular space GO:0005615 9.76 SPARC SERPINE1 SELP PLG PLAU F5
3 collagen-containing extracellular matrix GO:0062023 9.73 SPARC SERPINE1 PLG MMRN1
4 extracellular region GO:0005576 9.7 VCL SPARC SERPINE1 RECK PLG PLAU
5 platelet alpha granule membrane GO:0031092 9.4 SPARC SELP
6 platelet alpha granule GO:0031091 9.37 SPARC F5
7 platelet dense granule membrane GO:0031088 9.26 SELP CD63
8 platelet alpha granule lumen GO:0031093 9.02 SPARC SERPINE1 PLG MMRN1 F5

Biological processes related to Quebec Platelet Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.62 SPARC SERPINE1 RECK ADAMTSL1
2 negative regulation of cell migration GO:0030336 9.61 VCL SERPINE1 RECK
3 blood coagulation GO:0007596 9.55 PLG PLAU MMRN1 F5 F10
4 fibrinolysis GO:0042730 9.43 SERPINE1 PLG PLAU
5 regulation of signaling receptor activity GO:0010469 9.4 SERPINE1 PLAU
6 negative regulation of fibrinolysis GO:0051918 9.37 SERPINE1 PLG
7 hemostasis GO:0007599 9.26 PLG PLAU F5 F10
8 platelet degranulation GO:0002576 9.23 VCL SPARC SERPINE1 SELP PLG MMRN1

Molecular functions related to Quebec Platelet Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 9.13 PLG PLAU F10
2 serine-type peptidase activity GO:0008236 8.8 PLG PLAU F10

Sources for Quebec Platelet Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....