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MCID: THR035
MIFTS: 40

Thrombasthenia

Categories: Blood diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Thrombasthenia

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MalaCards integrated aliases for Thrombasthenia:

Name: Thrombasthenia 52 71

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Blood diseases
See all MalaCards categories (disease lists)


External Ids:

UMLS 71 C0040015
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Summaries for Thrombasthenia

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MalaCards based summary : Thrombasthenia is related to bleeding disorder, platelet-type, 16 and purpura. An important gene associated with Thrombasthenia is ITGA2B (Integrin Subunit Alpha 2b), and among its related pathways/superpathways are Integrin Pathway and PI3K-Akt signaling pathway. The drugs Fludarabine and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include testes, whole blood and bone, and related phenotypes are cellular and cardiovascular system

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Related Diseases for Thrombasthenia

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Diseases related to Thrombasthenia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 265)
# Related Disease Score Top Affiliating Genes
1 bleeding disorder, platelet-type, 16 33.6 ITGB3 ITGA2B
2 purpura 30.8 ITGB3 ITGA2B GP1BA F3 F2
3 glanzmann thrombasthenia 30.7 VTN THRA THCAT158 SELP PTK2 ITGB3
4 autosomal dominant macrothrombocytopenia 30.6 ITGB3 ITGA2B GP1BA
5 factor vii deficiency 30.4 F3 F2 EGF
6 qualitative platelet defect 30.3 F3 F2
7 hemopericardium 30.3 F3 F2
8 prothrombin deficiency 30.3 F3 F2
9 hemorrhagic disease 30.3 ITGA2B GP1BA F5 F3 F2
10 fetal and neonatal alloimmune thrombocytopenia 30.2 ITGB3 ITGA2B ITGA2 GP1BA
11 factor xiii deficiency 30.1 F5 F3 F2
12 factor viii deficiency 30.1 F5 F3 F2
13 factor xi deficiency 30.1 F5 F3 F2
14 disseminated intravascular coagulation 30.0 F5 F3 F2
15 thrombophilia due to thrombin defect 29.8 MTHFR F5 F3 F2
16 acquired von willebrand syndrome 29.7 GP1BA F3
17 blood platelet disease 29.4 SELP ITGB3 ITGA2B GP9 GP1BA F3
18 thrombocytosis 29.4 SELP F3 F2
19 thrombocytopenic purpura, autoimmune 29.3 SELP ITGB3 ITGA2B GP1BA
20 thrombocytopenia due to platelet alloimmunization 29.3 SELP ITGB3 ITGA2B ITGA2 GP9 GP1BA
21 pulmonary embolism 29.2 MTHFR GP1BA F5 F3 F2
22 bernard-soulier syndrome 29.1 SELP ITGB3 ITGA2B ITGA2 GP9 GP1BA
23 gray platelet syndrome 29.1 SELP ITGA2B GP9 GP1BA CD36
24 von willebrand's disease 28.8 SELP ITGB3 ITGA2 GP9 GP1BA F5
25 thrombophilia 28.7 SELP MTHFR ITGB3 F5 F3 F2
26 thrombosis 28.2 SELP MTHFR ITGB3 ITGA2B ITGA2 GP1BA
27 thrombocytopenia 27.7 SELP MTHFR ITGB3 ITGA2B ITGA2 HPSE
28 myocardial infarction 27.6 SELP MTHFR ITGB3 ITGA2B ITGA2 GP1BA
29 vascular disease 27.3 VTN SELP MTHFR ITGB3 ITGA2B ITGA2
30 bleeding disorder, platelet-type, 17 12.0
31 leukocyte adhesion deficiency, type i 11.6
32 schlegelberger grote syndrome 11.6
33 congenital disorder of glycosylation, type iic 11.2
34 leukocyte adhesion deficiency, type iii 11.2
35 autosomal recessive disease 10.6
36 aspirin resistance 10.5 ITGB3 ITGA2
37 achenbach syndrome 10.4 F3 F2
38 paracetamol poisoning 10.4 F5 F2
39 sticky platelet syndrome 10.4 ITGB3 F5
40 fournier gangrene 10.4 F3 F2
41 synovial angioma 10.4 F3 F2
42 renal pelvis squamous cell carcinoma 10.4 F3 F2
43 papillary adenofibroma 10.4 F3 F2
44 blue toe syndrome 10.4 F3 F2
45 emphysematous cholecystitis 10.4 F3 F2
46 femoral neuropathy 10.4 F3 F2
47 giant hemangioma 10.4 F3 F2
48 dic in newborn 10.4 F3 F2
49 rare hemorrhagic disorder 10.4
50 waterhouse-friderichsen syndrome 10.4 F3 F2

Graphical network of the top 20 diseases related to Thrombasthenia:



Diseases related to Thrombasthenia
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Symptoms & Phenotypes for Thrombasthenia

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MGI Mouse Phenotypes related to Thrombasthenia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.23 CD36 F2 F3 GP1BA HPSE ITGA2
2 cardiovascular system MP:0005385 10.22 CD36 F2 F3 F5 HPSE ITGA2B
3 hematopoietic system MP:0005397 10.22 CD36 F2 F3 GP1BA GP9 HPSE
4 homeostasis/metabolism MP:0005376 10.21 CD36 F2 F3 F5 GP1BA HPSE
5 integument MP:0010771 10.06 EGF F2 F3 F5 HPSE ITGA2
6 digestive/alimentary MP:0005381 9.98 CD36 EGF F2 ITGA2B ITGB3 PTK2
7 nervous system MP:0003631 9.9 CD36 F2 F3 F5 ITGA2B ITGB3
8 liver/biliary system MP:0005370 9.86 CD36 F5 ITGB3 MTHFR PSMG1 PTK2
9 normal MP:0002873 9.56 EGF F2 F3 ITGA2 ITGB3 PSMG1
10 vision/eye MP:0005391 9.23 CD36 EGF F3 ITGB3 MTHFR PSMG1
Sources

Drugs & Therapeutics for Thrombasthenia

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Drugs for Thrombasthenia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
2
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
3 Immunologic Factors Phase 2
4 Immunosuppressive Agents Phase 2
5 Antirheumatic Agents Phase 2
6 Alkylating Agents Phase 2
7 Antimetabolites Phase 2
8
Abatacept Approved Phase 1 332348-12-6 10237
9
Mycophenolic acid Approved Phase 1 24280-93-1 446541
10 Cyclosporins Phase 1
11
Clopidogrel Approved 113665-84-2, 120202-66-6 60606
12
Ticagrelor Approved 274693-27-5 9871419
13
Aspirin Approved, Vet_approved 50-78-2 2244
14
Iron Approved, Experimental 15438-31-0, 7439-89-6 27284 23925
15
alemtuzumab Approved, Investigational 216503-57-0
16
Busulfan Approved, Investigational 55-98-1 2478
17
Sodium citrate Approved, Investigational 68-04-2
18
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
19 Hemostatics
20 Antifibrinolytic Agents
21 Antilymphocyte Serum
22 Immunoglobulins
23 Antibodies
24 Antibodies, Monoclonal
25 Platelet Aggregation Inhibitors
26 polysaccharide-K
27 Citrate
28 Factor VIII
29 Dermatologic Agents

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 A Phase II Trial of Haploidentical Allogeneic Stem Cell Transplantation Utilizing Mobilized Peripheral Blood Stem Cells Recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
2 A Single-centre, Randomised, Double-blind, Two-way Cross-over Trial Investigating the Bio-equivalence in Healthy Male Subjects of NovoSeven (CP-rFVIIa) and a Formulation of NovoSeven Stable at 25°C (VII25) Completed NCT01561417 Phase 1 activated recombinant human factor VII;activated recombinant human factor VII
3 Abatacept for Post-Transplant Immune Suppression in Children and Adolescents Receiving Allogeneic Hematopoietic Stem Cell Transplants for Non-Malignant Diseases Completed NCT01917708 Phase 1 Abatacept
4 A Post-Marketing, Observational Study in Iran to Determine the Immunogenicity Status in Patients Who Have Received rFVIIa AryoSeven. Unknown status NCT03372993
5 A Multicentre, Non-interventional, Observational Study to Evaluate Safety and Efficacy of NovoSeven® in Patients With Glanzmann's Thrombasthenia in Japan Completed NCT01876745 eptacog alfa (activated)
6 Efficacy of NovoSeven® (Activated Recombinant Human Factor VII): Non-interventional Study in Patients With Congenital Haemophilia With Inhibitors, Acquired Haemophilia, Factor FVII Deficiency, and Glanzmann's Thrombasthenia Completed NCT00697320 eptacog alfa (activated)
7 Treatment of Glanzmann's Thrombasthenia: A Prospective Observational Registry Completed NCT01476423 activated recombinant human factor VII
8 Clinical Performance Evaluation of T-TAS 01 PL Chip Completed NCT03621020
9 Multicentre Evaluation of a New Laboratory Approach for the Diagnosis of Constitutional Functional Disorders of Platelets Completed NCT01957345
10 Studies of Interactions Among Normal and Abnormal Blood Cells, and the Vessel Wall, and Studies of Genetic and Functional Basis of Inherited Platelet, White Blood Cell, Red Blood Cell and Coagulation Disorders Recruiting NCT00230165
11 MT2014-10C: Allogeneic Hematopoietic Stem Cell Transplant for Patients With High Risk Hemoglobinopathies and Other Red Cell Transfusion Dependent Disorders Recruiting NCT02179359 Reduced Toxicity Ablative Regimen;Reduced Intensity Preparative Regimen;Myeloablative Preparative Regimen
12 Evaluation of Platelet Surface Glycoproteins in Patients With Inherited Thrombocytopathy: Association With Aggregation Studies and Bleeding Severity Recruiting NCT03648190
13 Interest of Sublingual Videomicroscopy for the Prediction of Bleeding in Von Willebrand Disease and Other Constitutional Haemorrhagic Diseases Not yet recruiting NCT04119908
14 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation for Children With Non-Malignant Diseases Who Have Been Multiply Transfused: a Pilot Study Terminated NCT01319851 Alefacept

Search NIH Clinical Center for Thrombasthenia

Inferred drug relations via UMLS 71 / NDF-RT 50 :


recombinant FVIIa
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Genetic Tests for Thrombasthenia

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Anatomical Context for Thrombasthenia

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MalaCards organs/tissues related to Thrombasthenia:

40
Testes, Whole Blood, Bone, Bone Marrow, Myeloid, Monocytes, Endothelial
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Publications for Thrombasthenia

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Articles related to Thrombasthenia:

(show top 50) (show all 1302)
# Title Authors PMID Year
1
Bleeding phenotype and diagnostic characterization of patients with congenital platelet defects. 61
32562285 2020
2
Two homozygous missense mutations in ITGB3 gene as a cause of Glanzmann Thrombasthenia in four consanguineous Pakistani pedigrees. 61
32558238 2020
3
Integrin β3 Deficiency Results in Hypertriglyceridemia via Disrupting LPL (Lipoprotein Lipase) Secretion. 61
32237906 2020
4
Genetics of equine bleeding disorders. 61
32463964 2020
5
Heterogeneity of Integrin αIIbβ3 Function in Pediatric Immune Thrombocytopenia Revealed by Continuous Flow Cytometry Analysis. 61
32344835 2020
6
Glanzmann thrombasthenia: genetic basis and clinical correlates. 61
32139434 2020
7
Acquired Glanzmann thrombasthenia associated with platelet desialylation. 61
31869497 2020
8
Long-term treatment with thalidomide for severe recurrent hemorrhage from intestinal angiodysplasia in Glanzmann Thrombasthenia. 61
32200672 2020
9
Menstrual and obstetrical bleeding in women with inherited platelet receptor defects-A systematic review. 61
32004416 2020
10
Management of siblings with Glanzmann's thrombasthenia: A case report. 61
32509680 2020
11
Acquired Glanzmann's thrombasthenia: Diagnosis aided by platelet aggregation mixing study. 61
31985103 2020
12
Glanzmann's thrombasthenia with spontaneous upper gastrointestinal bleeding: a case report. 61
32212884 2020
13
Identification of three novel pathogenic ITGA2B and one novel pathogenic ITGB3 mutations in patients with hereditary Glanzmann's thrombasthenia living in Eastern Turkey. 61
32089034 2020
14
Knock-in mice bearing constitutively active αIIb(R990W) mutation develop macrothrombocytopenia with severe platelet dysfunction. 61
31691484 2020
15
Clinical and laboratorial description of the differential diagnoses of hemostatic disorders in the horse. 61
32368218 2020
16
Clinico-hematological and thromboelastographic profiles in glanzmann's thrombasthenia. 61
31789664 2020
17
A rare case of Glanzmann's thrombasthenia and factor VII deficiency due to a combination of pathogenic and non-pathogenic gene variants. 61
31777146 2020
18
Lessons Learned: Deformity Correction and Tibiotalocalcaneal Arthrodesis in a Patient With Glanzmann Thrombasthenia: A Case Report. 61
32044772 2020
19
Identification of one novel pathogenic ITGB3 mutation and two known mutations in two Chinese pedigrees with hereditary Glanzmann thrombasthenia. 61
31088191 2020
20
Clinical Applications, Pitfalls, and Uncertainties of Thrombin Generation in the Presence of Platelets. 61
31905839 2019
21
Rituximab for treatment of autoimmune acquired platelet function disorders: description of two cases of acquired Glanzmann thrombasthenia and one case of acquired delta storage pool disease. 61
31612461 2019
22
A Successful Renal Transplant in a Pediatric Patient With Glanzmann Thrombasthenia and Hyperimmunization. 61
31580240 2019
23
A Glanzmann thrombasthenia family associated with a TUBB1-related macrothrombocytopenia. 61
31565851 2019
24
Impaired hemostatic activity of healthy transfused platelets in inherited and acquired platelet disorders: Mechanisms and implications. 61
31826978 2019
25
Prevalence of the Mutations Responsible for Glanzmann Thrombasthenia in Horses in Brazil. 61
31766112 2019
26
Successful Use of Hematopoietic Stem Cell Transplantation for 2 Pediatric Cases of Glanzmann Thrombasthenia and Review of the Literature. 61
31693514 2019
27
Unique case of successful surgical treatment of recurrent spinal epidural hematoma after lumbar disc surgery in a Glanzmann thrombasthenia patient. 61
31621418 2019
28
Ribociclib Causing Transient Glanzmann Thrombasthenia-like Picture: A Report of 4 Cases. 61
31311720 2019
29
Triple jeopardy: A case of Glanzmann's thrombasthenia with anti-GPIIb-IIIa antibodies and HPA incompatibility resulting in stillbirth. 61
31404847 2019
30
Sphenopalatine Artery Ligation for Life-Threatening Epistaxis in a 4-Year-Old Child With Glanzmann Thrombasthenia. 61
31079481 2019
31
The International Prospective Glanzmann Thrombasthenia Registry: Pediatric Treatment and Outcomes. 61
31523745 2019
32
The use of prophylaxis in the treatment of rare bleeding disorders. 61
31420204 2019
33
Acquired Glanzmann thrombasthenia: From antibodies to anti-platelet drugs. 61
31010659 2019
34
Intraventricular hemorrhage in ICSI twin pregnant woman with thrombasthenia: A rare case report. 61
30898627 2019
35
High-throughput elucidation of thrombus formation reveals sources of platelet function variability. 61
30545925 2019
36
Binding of Coagulation Factor XIII Zymogen to Activated Platelet Subpopulations: Roles of Integrin αIIbβ3 and Fibrinogen. 61
30934104 2019
37
First description of an IgM monoclonal antibody causing αIIb β3 integrin activation and acquired Glanzmann thrombasthenia associated with macrothrombocytopenia. 61
30868743 2019
38
Molecular genetic diagnosis of Glanzmann syndrome in Iranian population; reporting novel and recurrent mutations. 61
31029159 2019
39
Glanzmann Thrombasthenia in Children: Experience From a Tertiary Care Center in Southern India. 61
30789846 2019
40
Glanzmann Thrombasthenia in a Newborn with Heterozygous Factor V Leiden and Heterozygous MTHFR C677T Gene Mutations. 61
30819996 2019
41
Missed at first Glanz: Glanzmann thrombasthenia initially misdiagnosed as Von Willebrand Disease. 61
30551951 2019
42
Abdominal Surgical Emergencies in Patients with Hematological Disorders: An Exacting Experience for Surgeons. 61
31007975 2019
43
An Unusual Cause of Bleeding in a Patient with Chronic Myeloid Leukemia Chronic Phase. 61
31583142 2019
44
Flow cytometry for pediatric platelets. 61
30285517 2019
45
Management of Dentoalveolar Trauma in a 3-year-old Child with Glanzmann's Thrombasthenia, a Rare Bleeding Disorder: Case Report and Review. 61
32015657 2019
46
Screening for platelet function disorders with Multiplate and platelet function analyzer. 61
29135309 2019
47
Thrombotic events with recombinant activated factor VII (rFVIIa) in approved indications are rare and associated with older age, cardiovascular disease, and concomitant use of activated prothrombin complex concentrates (aPCC). 61
31572039 2019
48
Oral tranexamic acid associated with platelet transfusion to prevent hemorrhage in a patient with Glanzmann thrombasthenia. 61
30644834 2019
49
Low Concentrations of Recombinant Factor VIIa May Improve the Impaired Thrombin Generation of Glanzmann Thrombasthenia Patients. 61
30597506 2019
50
A unique phenotype of acquired Glanzmann thrombasthenia due to non-function-blocking anti-αIIbβ3 autoantibodies. 61
30388316 2019
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Variations for Thrombasthenia

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Expression for Thrombasthenia

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Search GEO for disease gene expression data for Thrombasthenia.
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Pathways for Thrombasthenia

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Pathways related to Thrombasthenia according to GeneCards Suite gene sharing:

(show all 38)
# Super pathways Score Top Affiliating Genes
1
Integrin Pathway 63
Show member pathways
 13.34 VTN PTK2 ITGB3 ITGA2B ITGA2 F2
2
PI3K-Akt signaling pathway 36
Show member pathways
 12.93 VTN PTK2 ITGB3 ITGA2B ITGA2 EGF
3
Focal Adhesion 36 1
Show member pathways
 12.81 VTN PTK2 ITGB3 ITGA2B ITGA2 EGF
4
Response to elevated platelet cytosolic Ca2+ 65
Show member pathways
 12.81 SELP PTK2 ITGB3 ITGA2B ITGA2 GP9
5
Pathways in cancer 36
12.77 PTK2 ITGA2B ITGA2 F2 EGF
6
Development Angiotensin activation of ERK 22
Show member pathways
 12.77 PTK2 ITGB3 ITGA2B ITGA2 F2
7
nNOS Signaling in Skeletal Muscle 63
Show member pathways
 12.62 PTK2 ITGB3 ITGA2B ITGA2 EGF
8
Regulation of actin cytoskeleton 36 1
12.54 PTK2 ITGB3 ITGA2B ITGA2 F2 EGF
9
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases 22
Show member pathways
 12.52 VTN PTK2 ITGB3 ITGA2
10
MET promotes cell motility 65
Show member pathways
 12.43 VTN PTK2 ITGB3 ITGA2
11
VEGF Pathway (Qiagen) 63
Show member pathways
 12.35 VTN PTK2 ITGB3 EGF
12
Proteoglycans in cancer 36
12.22 VTN PTK2 ITGB3 ITGA2 HPSE
13
MAPK Signaling: Mitogens 64
Show member pathways
 12.16 PTK2 ITGB3 ITGA2B ITGA2
14
Formation of Fibrin Clot (Clotting Cascade) 65
Show member pathways
 12.06 GP9 GP1BA F5 F3 F2
15
Complement and coagulation cascades 36 1
12.04 VTN F5 F3 F2
16
Platelet activation 36
11.94 ITGB3 ITGA2B ITGA2 GP9 GP1BA F2
17
ECM-receptor interaction 36
Show member pathways
 11.89 VTN ITGB3 ITGA2B ITGA2 GP9 GP1BA
18
Hematopoietic Stem Cells and Lineage-specific Markers 64
11.87 ITGB3 ITGA2B ITGA2 GP1BA CD36
19
Small cell lung cancer 36
11.81 PTK2 ITGA2B ITGA2
20
Hematopoietic cell lineage 36
11.79 ITGB3 ITGA2B ITGA2 GP9 GP1BA CD36
21
Phagocytosis of Microbes 63
11.75 VTN ITGB3 ITGA2B ITGA2
22
Integrin alphaIIb beta3 signaling 65
Show member pathways
 11.73 PTK2 ITGB3 ITGA2B GP9 GP1BA F2
23
Primary Focal Segmental Glomerulosclerosis FSGS 1
11.69 VTN PTK2 ITGB3
24
G-protein signaling_RhoA regulation pathway 22
11.65 PTK2 ITGB3 ITGA2B ITGA2 EGF
25
IL4-mediated signaling events 1
11.61 SELP ITGB3 GTF3A
26
Signaling events mediated by PTP1B 1
11.5 ITGB3 ITGA2B EGF
27
ECM proteoglycans 65
11.49 VTN ITGB3 ITGA2B ITGA2
28
Cytoskeleton remodeling_RalA regulation pathway 22
11.48 PTK2 ITGB3 ITGA2B ITGA2
29
Hematopoietic Stem Cell Differentiation 1
11.46 ITGB3 ITGA2B GP9
30
amb2 Integrin signaling 1
11.46 VTN SELP GP1BA
31
Cell adhesion_Endothelial cell contacts by non-junctional mechanisms 22
11.36 VTN ITGB3 ITGA2
32
Articular Cartilage Extracellular Matrix 64
11.28 ITGA2B ITGA2 HPSE
33
Arf6 signaling events 1
11.24 ITGB3 ITGA2B EGF
34
G-protein signaling_Rap2B regulation pathway 22
10.96 PTK2 ITGB3 ITGA2B ITGA2 EGF
35
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics 60
10.81 ITGB3 ITGA2B ITGA2 GP9 F2 CD36
36
Platelet Adhesion to exposed collagen 65
10.77 ITGA2 GP9 GP1BA
37
MFAP5-mediated ovarian cancer cell motility and invasiveness 1
10.73 PTK2 ITGB3
38
GP1b-IX-V activation signalling 65
10.65 GP9 GP1BA
Sources

GO Terms for Thrombasthenia

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Cellular components related to Thrombasthenia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.18 SELP PTK2 ITGB3 ITGA2B ITGA2 GP9
2 extracellular space GO:0005615 9.97 VTN SELP GP1BA F5 F3 F2
3 cell surface GO:0009986 9.73 ITGB3 ITGA2B ITGA2 GP1BA F3 CD36
4 external side of plasma membrane GO:0009897 9.72 SELP ITGA2B ITGA2 F2 CD36
5 alphav-beta3 integrin-vitronectin complex GO:0071062 9.16 VTN ITGB3
6 integrin complex GO:0008305 9.13 ITGB3 ITGA2B ITGA2
7 platelet alpha granule membrane GO:0031092 8.92 SELP ITGB3 ITGA2B CD36

Biological processes related to Thrombasthenia according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.91 VTN PTK2 ITGB3 ITGA2B ITGA2
2 positive regulation of protein kinase B signaling GO:0051897 9.85 PTK2 HPSE F3 EGF
3 platelet activation GO:0030168 9.83 ITGB3 GP9 GP1BA F2
4 integrin-mediated signaling pathway GO:0007229 9.8 PTK2 ITGB3 ITGA2B ITGA2
5 wound healing GO:0042060 9.78 ITGB3 ITGA2 HPSE
6 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.78 VTN ITGB3 EGF CD36
7 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.76 SELP PTK2 F2
8 cell-matrix adhesion GO:0007160 9.72 VTN ITGB3 ITGA2B ITGA2 HPSE
9 platelet aggregation GO:0070527 9.71 ITGB3 ITGA2B GP1BA
10 hemostasis GO:0007599 9.65 GP9 GP1BA F5 F3 F2
11 cell adhesion mediated by integrin GO:0033627 9.63 VTN ITGB3 ITGA2
12 platelet degranulation GO:0002576 9.63 SELP ITGB3 ITGA2B F5 EGF CD36
13 blood coagulation, intrinsic pathway GO:0007597 9.61 GP9 GP1BA F2
14 cell adhesion GO:0007155 9.61 VTN SELP ITGB3 ITGA2B ITGA2 HPSE
15 mesodermal cell differentiation GO:0048333 9.6 ITGB3 ITGA2
16 regulation of blood coagulation GO:0030193 9.59 GP1BA F2
17 positive regulation of phagocytosis, engulfment GO:0060100 9.58 ITGA2 CD36
18 positive regulation of blood coagulation GO:0030194 9.58 HPSE F2 CD36
19 positive regulation of positive chemotaxis GO:0050927 9.57 ITGA2 F3
20 angiogenesis involved in wound healing GO:0060055 9.56 ITGB3 HPSE
21 positive regulation of leukocyte migration GO:0002687 9.54 SELP ITGA2B ITGA2
22 blood coagulation GO:0007596 9.23 ITGB3 ITGA2 GP9 GP1BA F5 F3

Molecular functions related to Thrombasthenia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 fibrinogen binding GO:0070051 9.26 ITGB3 ITGA2B
2 integrin binding GO:0005178 9.26 VTN PTK2 ITGB3 ITGA2
3 thrombospondin receptor activity GO:0070053 9.16 F2 CD36
4 extracellular matrix binding GO:0050840 8.8 VTN ITGB3 ITGA2B
Sources

Sources for Thrombasthenia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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