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MCID: THR035
MIFTS: 46

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 54 74

Classifications:

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


External Ids:

UMLS 74 C0040015
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Summaries for Thrombasthenia

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MalaCards based summary : Thrombasthenia is related to glanzmann thrombasthenia and bleeding disorder, platelet-type, 16. 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 bone, bone marrow and whole blood, and related phenotypes are cardiovascular system and cellular

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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 153)
# Related Disease Score Top Affiliating Genes
1 glanzmann thrombasthenia 33.0 F2 F3 GP1BA GP9 ITGA2 ITGA2B
2 bleeding disorder, platelet-type, 16 32.8 ITGA2B ITGB3
3 bernard-soulier syndrome 30.4 F2 GP1BA GP9 ITGA2 ITGA2B ITGB3
4 purpura 30.3 F2 F3 ITGA2B ITGB3
5 von willebrand's disease 30.2 F2 F3 F5 GP1BA SELP
6 prothrombin deficiency 30.2 F2 F3
7 thrombocytopenia 30.2 F3 GP1BA GP9 ITGA2 ITGA2B ITGB3
8 prothrombin deficiency, congenital 30.1 F2 F5
9 thrombophilia due to thrombin defect 29.8 F2 F3 F5 MTHFR
10 thrombocytopenia due to platelet alloimmunization 29.6 GP9 ITGA2 ITGA2B ITGB3 SELP
11 thrombosis 29.5 F2 F3 F5 GP1BA MTHFR SELP
12 blood platelet disease 29.3 F2 F3 GP1BA GP9 ITGA2B ITGB3
13 bleeding disorder, platelet-type, 17 11.9
14 schlegelberger grote syndrome 11.4
15 leukocyte adhesion deficiency, type i 11.1
16 congenital disorder of glycosylation, type iic 11.1
17 leukocyte adhesion deficiency, type iii 11.1
18 aspirin resistance 10.4 ITGA2 ITGB3
19 paracetamol poisoning 10.4 F2 F5
20 sticky platelet syndrome 10.3 F5 ITGB3
21 autosomal dominant macrothrombocytopenia 10.3 GP1BA ITGA2B ITGB3
22 cerebral falx meningioma 10.3 F2 F3
23 chancroid 10.3 CD36 VTN
24 leech infestation 10.3 F2 F3
25 acquired hemophilia 10.3 F3 F5
26 acquired hemophilia a 10.3 F3 F5
27 hemoglobin e disease 10.3 F2 F5
28 intestinal impaction 10.3 F2 F3
29 fournier gangrene 10.3 F2 F3
30 infective endocarditis 10.3 F2 GP1BA ITGB3
31 cerebral sinovenous thrombosis 10.2 F2 F3 F5
32 giant hemangioma 10.2 F2 F3
33 sagittal sinus thrombosis 10.2 F2 F3 F5
34 fetal and neonatal alloimmune thrombocytopenia 10.2 GP1BA ITGA2 ITGA2B ITGB3
35 factor vii deficiency 10.2 EGF F2 F3
36 hemophilia b 10.2 EGF F2 F3
37 peripheral vertigo 10.2 F2 F3 F5
38 coronary thrombosis 10.2 F3 GP1BA ITGB3
39 factor x deficiency 10.2 F2 F3 F5
40 afibrinogenemia 10.2 F2 F3 F5
41 factor v deficiency 10.2 F2 F3 F5
42 inferior vena cava interruption 10.2 F5 MTHFR
43 disseminated intravascular coagulation 10.2 F2 F3 F5
44 leukemia 10.1
45 amaurosis fugax 10.1 F5 MTHFR
46 mesenteric vascular occlusion 10.1 F2 MTHFR
47 blue toe syndrome 10.1 F2 F3
48 carotid artery thrombosis 10.1 F3 ITGA2B SELP
49 femoral neuropathy 10.1 F2 F3
50 hemarthrosis 10.1

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:

47 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.24 CD36 F2 F3 F5 HPSE ITGA2B
2 cellular MP:0005384 10.22 CD36 F3 GP1BA HPSE ITGA2 ITGA2B
3 hematopoietic system MP:0005397 10.22 CD36 F2 F3 GP1BA GP9 HPSE
4 homeostasis/metabolism MP:0005376 10.18 CD36 F2 F3 F5 GP1BA ITGA2
5 growth/size/body region MP:0005378 10.17 CD36 EGF F2 F3 F5 ITGB3
6 immune system MP:0005387 10.02 CD36 EGF F2 F3 HPSE ITGA2B
7 digestive/alimentary MP:0005381 10 CD36 EGF F2 ITGA2B ITGB3 PTK2
8 integument MP:0010771 10 EGF F2 F3 F5 HPSE ITGA2
9 liver/biliary system MP:0005370 9.76 CD36 F5 ITGB3 MTHFR PSMG1 PTK2
10 nervous system MP:0003631 9.65 CD36 F2 F3 F5 ITGB3 MTHFR
11 normal MP:0002873 9.23 EGF F2 F3 ITGA2 ITGB3 PSMG1
Sources

Drugs & Therapeutics for Thrombasthenia

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

(show all 37)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved Phase 2,Not Applicable 75607-67-9, 21679-14-1 30751
2
Cyclophosphamide Approved, Investigational Phase 2,Not Applicable 6055-19-2, 50-18-0 2907
3
Vidarabine Approved, Investigational Phase 2 24356-66-9 21704 32326
4
Emodepside Investigational, Vet_approved Phase 2 155030-63-0
5 Antineoplastic Agents, Alkylating Phase 2
6 Antiviral Agents Phase 2
7 Antimetabolites Phase 2
8 Anti-Infective Agents Phase 2
9 Immunosuppressive Agents Phase 2,Phase 1
10 Antimetabolites, Antineoplastic Phase 2
11 Immunologic Factors Phase 2,Phase 1,Not Applicable
12 Vidarabine Phosphate Phase 2
13 Alkylating Agents Phase 2
14 Antirheumatic Agents Phase 2,Phase 1
15
Abatacept Approved Phase 1 332348-12-6 10237
16
Mycophenolic acid Approved Phase 1 24280-93-1 446541
17 Cyclosporins Phase 1
18
Aspirin Approved, Vet_approved 50-78-2 2244
19
Iron Approved, Experimental Not Applicable 7439-89-6, 15438-31-0 23925 27284
20
Busulfan Approved, Investigational Not Applicable 55-98-1 2478
21
alemtuzumab Approved, Investigational Not Applicable 216503-57-0
22 Antifibrinolytic Agents
23 Hemostatics
24 Protective Agents
25 Platelet Aggregation Inhibitors
26 Radiation-Protective Agents
27 Antibodies
28 Antibiotics, Antitubercular
29 Immunoglobulins
30 interferons
31 polysaccharide-K
32 Anti-Bacterial Agents
33 Interferon Inducers
34 Adjuvants, Immunologic
35 Antibodies, Monoclonal
36 Antilymphocyte Serum Not Applicable
37 Dermatologic Agents Not Applicable

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer Recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
2 Bioequivalence of NovoSeven® and a NovoSeven® Formulation Stable at Room Temperature in Healthy Male Subjects Completed NCT01561417 Phase 1 activated recombinant human factor VII;activated recombinant human factor VII
3 BMT Abatacept for Non-Malignant Diseases Active, not recruiting NCT01917708 Phase 1 Abatacept
4 Evaluation of Menses in Congenital Bleeding Disorders Unknown status NCT01261936
5 Observational Registry of the Treatment of Glanzmann's Thrombasthenia Completed NCT01476423 activated recombinant human factor VII
6 A Study to Evaluate Safety and Efficacy of NovoSeven® in Patients With Glanzmann's Thrombasthenia in Japan Completed NCT01876745 eptacog alfa (activated)
7 Observational Study on the Efficacy and Safety of NovoSeven® During "Real-life" Usage in Germany Completed NCT00697320 eptacog alfa (activated)
8 The Genetics and Functional Basis of Inherited Platelet, White Blood Cell, Red Blood Cell, and Blood Clotting Disorders. Recruiting NCT00230165
9 Platelet Glycoproteins in Inherited Thrombocytopathy: Association With Aggregation Studies and Bleeding Severity Recruiting NCT03648190
10 Clinical Performance Evaluation of T-TAS 01 PL Chip Recruiting NCT03621020
11 Evaluation of a New Approach of the Diagnosis of Constitutional Functional Disorders of Platelets Recruiting NCT01957345 Not Applicable
12 Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies Recruiting NCT02179359 Not Applicable Reduced Toxicity Ablative Regimen;Reduced Intensity Preparative Regimen;Myeloablative Preparative Regimen
13 Prospective, Non-interventional Study to Evaluate Immunogenicity of AryoSeven Enrolling by invitation NCT03372993
14 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851 Not Applicable Alefacept

Search NIH Clinical Center for Thrombasthenia

Inferred drug relations via UMLS 74 / NDF-RT 52 :
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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:

42
Bone, Bone Marrow, Whole Blood, Testes, Monocytes, Myeloid, Smooth Muscle
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Publications for Thrombasthenia

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Articles related to Thrombasthenia:

(show top 50) (show all 632)
# Title Authors Year
1
Low Concentrations of Recombinant Factor VIIa May Improve the Impaired Thrombin Generation of Glanzmann Thrombasthenia Patients. ( 30597506 )
2019
2
Oral tranexamic acid associated with platelet transfusion to prevent hemorrhage in a patient with Glanzmann thrombasthenia. ( 30644834 )
2019
3
Glanzmann Thrombasthenia in Children: Experience From a Tertiary Care Center in Southern India. ( 30789846 )
2019
4
Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients. ( 30792900 )
2019
5
Glanzmann Thrombasthenia in a Newborn with Heterozygous Factor V Leiden and Heterozygous MTHFR C677T Gene Mutations. ( 30819996 )
2019
6
First description of an IgM monoclonal antibody causing αIIb β3 integrin activation and acquired Glanzmann thrombasthenia associated with macrothrombocytopenia. ( 30868743 )
2019
7
Case Report. ( 30898627 )
2019
8
Acquired Antibodies to I+IIbI^3 in Glanzmann Thrombasthenia: From Transfusion and Pregnancy to Bone Marrow Transplants and Beyond. ( 29884513 )
2018
9
Levonorgestrel-releasing intrauterine system for treatment of heavy menstrual bleeding in adolescents with Glanzmann's Thrombasthenia: illustrated case series. ( 29486748 )
2018
10
In silico analysis of structural modifications in and around the integrin I+IIb genu caused by ITGA2B variants in human platelets with emphasis on Glanzmann thrombasthenia. ( 29385657 )
2018
11
Study of the Relationship between HPA-1 and HPA-5 Gene Polymorphisms and Refractory to Platelet Therapy and Recombinant Factor VII in Glanzmann Thrombasthenia Patients in Southeast of Iran. ( 29951177 )
2018
12
Anti-I+<sub>IIb</sub> I^<sub>3</sub> immunization in Glanzmann thrombasthenia: review of literature and treatment recommendations. ( 29611179 )
2018
13
Clinical and molecular insights into Glanzmann's thrombasthenia in China. ( 29675921 )
2018
14
Alloimmunization in Congenital Deficiencies of Platelet Surface Glycoproteins: Focus on Glanzmann's Thrombasthenia and Bernard-Soulier's Syndrome. ( 29879742 )
2018
15
ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia. ( 29125375 )
2018
16
A novel variant Glanzmann thrombasthenia due to co-inheritance of a loss- and a gain-of-function mutation of ITGB3: evidence of a dominant effect of gain-of-function mutations. ( 29439184 )
2018
17
Management of Abdominoperineal Excision of the Rectum in a Patient with Glanzmann Thrombasthenia. ( 29945125 )
2018
18
Perioperative management of a patient with Glanzmann thrombasthenia undergoing a coronary artery bypass graft surgery: a case report. ( 29474205 )
2018
19
Correction of coagulopathy in thrombocytopenia and Glanzmann thrombasthenia models by fibrinogen and factor XIII as assessed by thromboelastometry. ( 29805054 )
2018
20
Combination of acquired von Willebrand syndrome (AVWS) and Glanzmann thrombasthenia in monoclonal gammopathy of uncertain significance (MGUS), a case report. ( 30534006 )
2018
21
Multidisciplinary Clinical Management of a Localized Aggressive Periodontitis diagnosed in a Child with Glanzmann's Thrombasthenia. ( 30397380 )
2018
22
How we treat the platelet glycoprotein defects; Glanzmann thrombasthenia and Bernard Soulier syndrome in children and adults. ( 30117143 )
2018
23
Mass Cytometry Reveals Distinct Platelet Subtypes in Healthy Subjects and Novel Alterations in Surface Glycoproteins in Glanzmann Thrombasthenia. ( 29985398 )
2018
24
A novel approach using ancillary tests to guide treatment of Glanzmann thrombasthenia patients undergoing surgical procedures. ( 30078718 )
2018
25
From thrombasthenia to next generation thrombocytopenia: Neonatal alloimmune thrombocytopenia induced by maternal Glanzmann thrombasthenia. ( 30216638 )
2018
26
Molecular genetic diagnosis of Tunisian Glanzmann thrombasthenia patients reveals a common nonsense mutation in the ITGA2B gene that seems to be specific for the studied population. ( 30325339 )
2018
27
A unique phenotype of acquired Glanzmann thrombasthenia due to non-function-blocking anti-αIIbβ3 autoantibodies. ( 30388316 )
2018
28
Missed at first Glanz: Glanzmann thrombasthenia initially misdiagnosed as Von Willebrand Disease. ( 30551951 )
2018
29
Severe Intestinal Bleeding in a Woman with Glanzmann Thrombasthenia. ( 30756012 )
2018
30
Identification of Clinicopathological Spectrum, Platelet Glycoprotein IIb/IIIa complex and Platelet Antibodies in Egyptian Children with Glanzmann's Thrombasthenia. ( 28161816 )
2017
31
Molecular characterization of Glanzmann's thrombasthenia in Iran: identification of three novel mutations. ( 29084015 )
2017
32
A rare case of bleeding disorder: Glanzmann's thrombasthenia. ( 29063905 )
2017
33
Epistaxis as a Common Presenting Symptom of Glanzmann's Thrombasthenia, a Rare Qualitative Platelet Disorder: Illustrative Case Examples. ( 28299211 )
2017
34
Allogeneic hematopoietic cell transplantation in an adult patient with Glanzmann thrombasthenia. ( 29152293 )
2017
35
Perioperative management of a patient with glanzmann's thrombasthenia for mitral valve repair under cardiopulmonary bypass. ( 28994690 )
2017
36
Novel Mutations in Thai Patients with Glanzmann Thrombasthenia. ( 28888044 )
2017
37
Should studies on Glanzmann thrombasthenia not be telling us more about cardiovascular disease and other major illnesses? ( 28395882 )
2017
38
Anticoagulant therapy in patients with Glanzmann's Thrombasthenia: Is it possible? ( 28940852 )
2017
39
Alterations of the platelet proteome in type I Glanzmann thrombasthenia caused by different homozygous delG frameshift mutations in ITGA2B. ( 28078347 )
2017
40
Thalidomide for the Treatment of Gastrointestinal Bleeding Due to Angiodysplasia in a Patient with Glanzmann's Thrombasthenia. ( 28670433 )
2017
41
Oral Surgery in Patients With Glanzmann Thrombasthenia: A Case Series. ( 28341450 )
2017
42
Evaluation of platelet surface glycoproteins in patients with Glanzmann thrombasthenia: Association with bleeding symptoms. ( 28948953 )
2017
43
Reversal of Glanzmann thrombasthenia platelet phenotype after imatinib treatment in a pediatric chronic myeloid leukemia patient. ( 29185819 )
2017
44
Independent adjudicator assessments of platelet refractoriness and rFVIIa efficacy in bleeding episodes and surgeries from the multinational Glanzmann's thrombasthenia registry. ( 28370369 )
2017
45
Glanzmann thrombasthenia platelets compete with transfused platelets, reducing the haemostatic impact of platelet transfusions. ( 28466602 )
2017
46
Recognition and management of platelet-refractory bleeding in patients with Glanzmann's thrombasthenia and other severe platelet function disorders. ( 28435309 )
2017
47
Modeling Glanzmann thrombasthenia using patient specific iPSCs and restoring platelet aggregation function by CD41 overexpression. ( 28232155 )
2017
48
Emergency craniotomy in Glanzmann thrombasthenia: Anesthetic management and brief review of literature. ( 28096593 )
2016
49
Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia. ( 26452979 )
2016
50
Immunisation against I+IIbI^3 and I+vI^3 in a type 1 variant of Glanzmann's thrombasthenia caused by a missense mutation Gly540Asp on I^3. ( 27098940 )
2016
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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 39)
# Super pathways Score Top Affiliating Genes
1
Integrin Pathway 65
Show member pathways
 13.33 CD36 EGF F2 ITGA2 ITGA2B ITGB3
2
PI3K-Akt signaling pathway 38
Show member pathways
 12.93 EGF ITGA2 ITGA2B ITGB3 PTK2 VTN
3
Focal Adhesion 1 38
Show member pathways
 12.82 EGF ITGA2 ITGA2B ITGB3 PTK2 VTN
4
Response to elevated platelet cytosolic Ca2+ 67
Show member pathways
 12.81 CD36 EGF F2 F3 F5 GP1BA
5
Regulation of actin cytoskeleton 38 1
12.54 EGF F2 ITGA2 ITGA2B ITGB3 PTK2
6
VEGF Pathway (Qiagen) 65
Show member pathways
 12.35 EGF ITGB3 PTK2 VTN
7
Arrhythmogenic right ventricular cardiomyopathy (ARVC) 38
Show member pathways
 12.34 EGF ITGA2 ITGA2B ITGB3 PTK2
8
Proteoglycans in cancer 38
12.21 HPSE ITGA2 ITGB3 PTK2 VTN
9
G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins 23
Show member pathways
 12.17 F2 ITGA2 ITGA2B ITGB3 PTK2
10
MAPK Signaling: Mitogen Stimulation Pathway 66
Show member pathways
 12.14 ITGA2 ITGA2B ITGB3 PTK2
11
AKT Signaling Pathway 68
12.08 ITGA2 ITGA2B ITGB3 PTK2
12
Formation of Fibrin Clot (Clotting Cascade) 67
Show member pathways
 12.06 F2 F3 F5 GP1BA GP9
13
Complement and coagulation cascades 38 1
12.03 F2 F3 F5 VTN
14
L1CAM interactions 67
Show member pathways
 11.95 ITGA2 ITGA2B ITGB3
15
Adhesion 4
11.94 F3 ITGB3 PTK2
16
Platelet activation 38
11.9 GP1BA GP9 ITGA2 ITGA2B ITGB3
17
ECM-receptor interaction 38
Show member pathways
 11.88 CD36 GP1BA GP9 ITGA2 ITGA2B ITGB3
18
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 66
11.83 CD36 GP1BA ITGA2 ITGA2B ITGB3
19
Small cell lung cancer 38
11.81 ITGA2 ITGA2B PTK2
20
Integrin alphaIIb beta3 signaling 67
Show member pathways
 11.79 F2 GP1BA GP9 ITGA2B ITGB3 PTK2
21
Phagocytosis of Microbes 65
11.75 ITGA2 ITGA2B ITGB3 VTN
22
Hematopoietic cell lineage 38
11.72 CD36 GP1BA GP9 ITGA2 ITGA2B ITGB3
23
Primary Focal Segmental Glomerulosclerosis FSGS 1
11.69 ITGB3 PTK2 VTN
24
G-protein signaling_RhoA regulation pathway 23
11.65 EGF ITGA2 ITGA2B ITGB3 PTK2
25
IL4-mediated signaling events 1
11.61 GTF3A ITGB3 SELP
26
Signaling events mediated by PTP1B 1
11.49 EGF ITGA2B ITGB3
27
ECM proteoglycans 67
11.49 ITGA2 ITGA2B ITGB3 VTN
28
Cytoskeleton remodeling_RalA regulation pathway 23
11.48 ITGA2 ITGA2B ITGB3 PTK2
29
amb2 Integrin signaling 1
11.47 GP1BA SELP VTN
30
Hematopoietic Stem Cell Differentiation 1
11.46 GP9 ITGA2B ITGB3
31
Cell adhesion_Endothelial cell contacts by non-junctional mechanisms 23
11.38 ITGA2 ITGB3 VTN
32
G-protein signaling_Cross-talk between Ras-family GTPases 23
11.34 ITGA2 ITGA2B ITGB3 PTK2
33
Articular Cartilage Extracellular Matrix Pathway 66
11.3 HPSE ITGA2 ITGA2B
34
Arf6 signaling events 1
11.26 EGF ITGA2B ITGB3
35
G-protein signaling_Rap2B regulation pathway 23
10.96 EGF ITGA2 ITGA2B ITGB3 PTK2
36
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics 62
10.81 CD36 F2 GP9 ITGA2 ITGA2B ITGB3
37
Platelet Adhesion to exposed collagen 67
10.77 GP1BA GP9 ITGA2
38
MFAP5-mediated ovarian cancer cell motility and invasiveness 1
10.74 ITGB3 PTK2
39
GP1b-IX-V activation signalling 67
10.65 GP1BA GP9
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 extracellular space GO:0005615 9.97 CD36 EGF F2 F3 F5 GP1BA
2 cell surface GO:0009986 9.73 CD36 F3 GP1BA ITGA2 ITGA2B ITGB3
3 external side of plasma membrane GO:0009897 9.72 CD36 F2 ITGA2 ITGA2B SELP
4 alphav-beta3 integrin-vitronectin complex GO:0071062 9.16 ITGB3 VTN
5 integrin complex GO:0008305 9.13 ITGA2 ITGA2B ITGB3
6 platelet alpha granule membrane GO:0031092 8.92 CD36 ITGA2B ITGB3 SELP
7 plasma membrane GO:0005886 10.18 CD36 EGF F2 F3 F5 GP1BA

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein kinase B signaling GO:0051897 9.85 EGF F3 HPSE PTK2
2 extracellular matrix organization GO:0030198 9.85 ITGA2 ITGA2B ITGB3 PTK2 VTN
3 platelet activation GO:0030168 9.83 F2 GP1BA GP9 ITGB3
4 integrin-mediated signaling pathway GO:0007229 9.81 ITGA2 ITGA2B ITGB3 PTK2
5 wound healing GO:0042060 9.78 HPSE ITGA2 ITGB3
6 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.78 CD36 EGF ITGB3 VTN
7 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.73 F2 PTK2 SELP
8 cell-matrix adhesion GO:0007160 9.72 HPSE ITGA2 ITGA2B ITGB3 VTN
9 platelet aggregation GO:0070527 9.71 GP1BA ITGA2B ITGB3
10 cell adhesion mediated by integrin GO:0033627 9.67 ITGA2 ITGB3 VTN
11 hemostasis GO:0007599 9.65 F2 F3 F5 GP1BA GP9
12 positive regulation of smooth muscle cell migration GO:0014911 9.63 ITGA2 VTN
13 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.63 ITGB3 VTN
14 platelet degranulation GO:0002576 9.63 CD36 EGF F5 ITGA2B ITGB3 SELP
15 apoptotic cell clearance GO:0043277 9.62 CD36 ITGB3
16 cell-substrate adhesion GO:0031589 9.62 ITGA2 ITGB3
17 positive regulation of ubiquitin-dependent protein catabolic process GO:2000060 9.61 EGF PTK2
18 blood coagulation, intrinsic pathway GO:0007597 9.61 F2 GP1BA GP9
19 cell adhesion GO:0007155 9.61 CD36 GP1BA GP9 HPSE ITGA2 ITGA2B
20 mesodermal cell differentiation GO:0048333 9.6 ITGA2 ITGB3
21 regulation of blood coagulation GO:0030193 9.59 F2 GP1BA
22 positive regulation of positive chemotaxis GO:0050927 9.58 F3 ITGA2
23 angiogenesis involved in wound healing GO:0060055 9.58 HPSE ITGB3
24 positive regulation of blood coagulation GO:0030194 9.58 CD36 F2 HPSE
25 positive regulation of phagocytosis, engulfment GO:0060100 9.57 CD36 ITGA2
26 positive regulation of leukocyte migration GO:0002687 9.54 ITGA2 ITGA2B SELP
27 blood coagulation GO:0007596 9.23 CD36 F2 F3 F5 GP1BA GP9

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

# Name GO ID Score Top Affiliating Genes
1 fibrinogen binding GO:0070051 9.16 ITGA2B ITGB3
2 thrombospondin receptor activity GO:0070053 8.96 CD36 F2
3 extracellular matrix binding GO:0050840 8.8 ITGA2B ITGB3 VTN
4 protein binding GO:0005515 10.16 CD36 EGF F2 F3 F5 GP1BA
Sources

Sources for Thrombasthenia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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