MCID: THR035
MIFTS: 45

Thrombasthenia malady

Rare diseases, Blood diseases categories
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Summaries for Thrombasthenia

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65Wikipedia, 33MalaCards
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Wikipedia:65 Glanzmann\'s thrombasthenia is an abnormality of platelets. It is an extremely rare coagulopathy... more...

MalaCards: Thrombasthenia is related to glanzmann's thrombasthenia and bernard-soulier syndrome. An important gene associated with Thrombasthenia is ITGA2B (integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)), and among its related pathways are Ephrin B reverse signaling and Arf6 signaling events. The compounds a 286982 and obtustatin have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and whole blood, and related mouse phenotypes are cellular and hematopoietic system.

Aliases & Classifications for Thrombasthenia

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43NIH Rare Diseases, 62UMLS
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Classifications:

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


Aliases & Descriptions:

thrombasthenia 43 62


Related Diseases for Thrombasthenia

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17GeneCards, 18GeneDecks
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Diseases related to Thrombasthenia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 81)
idRelated DiseaseScoreTop Affiliating Genes
1glanzmann's thrombasthenia31.8ITGB3, ITGA2B
2bernard-soulier syndrome30.7ITGA2, ITGA2B, ITGB3, GP1BA
3von willebrand's disease30.5GP1BA, ITGA2B
4thrombocytopenia30.2PECAM1, GP1BA, ITGB3, ITGA2B, ITGA2
5atherosclerosis30.0PECAM1, VTN, ITGB3, ITGA2B
6autoimmune thrombocytopenic purpura29.9GP1BA, ITGB3
7endometriosis29.9ITGB3, VTN
8hemarthrosis10.2
9duodenitis10.2
10leukemia10.2
11coronary thrombosis10.1ITGB3
12hermansky-pudlak syndrome10.1
13gingivitis10.1
14purpura10.1
15thrombasthenia of glanzmann and naegeli, itgb3-related10.1
16thrombasthenia of glanzmann and naegeli, itga2b-related10.1
17venous thrombosis10.1
18hematopoietic stem cell transplantation10.1
19bleeding disorder, platelet-type, 16, autosomal dominant10.1ITGB3, ITGA2B
20blood platelet disease10.0ITGA2B, GP1BA
21fibrosarcoma10.0ITGA2, VTN
22acute myocardial infarction10.0ITGA2B, PECAM1
23diabetic retinopathy10.0ITGA2, ITGB3, VTN
24glomerulonephritis10.0VTN, PECAM1
25ipex syndrome10.0ITGA2B, VTN, GP1BA
26asthma10.0ITGA2, ITGB3, VTN
27ovarian cancer10.0ITGA2, ITGB3, VTN
28pancreatic cancer10.0ITGA2, VTN
29factor v leiden thrombophilia10.0ITGA2, ITGA2B, ITGB3, GP1BA
30acute erythroid leukemia9.9ITGA2B, ITGB3, VTN, GP1BA
31malignant glioma9.9PECAM1, VTN, ITGB3
32colon cancer9.9ITGA2, VTN, PECAM1
33tongue squamous cell carcinoma9.9PECAM1, VTN, ITGA2
34evans' syndrome9.9
35leukocyte adhesion deficiency9.9
36factor xi deficiency9.9
37prothrombin deficiency9.9
38diabetes insipidus9.9
39primary ciliary dyskinesia9.9
40osteopetrosis9.9
41ataxia telangiectasia9.9
42acute myeloid leukemia9.9
43xeroderma pigmentosum9.9
44systemic lupus erythematosus9.9
45amyloidosis9.9
46cystitis9.9
47hepatitis9.9
48hodgkin's lymphoma9.9
49hypopituitarism9.9
50lupus erythematosus9.9

Graphical network of the top 20 diseases related to Thrombasthenia:



Diseases related to thrombasthenia

Symptoms for Thrombasthenia

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Drugs & Therapeutics for Thrombasthenia

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Thrombasthenia

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Anatomical Context for Thrombasthenia

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33MalaCards
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MalaCards organs/tissues related to Thrombasthenia:

33
Bone, Bone marrow, Whole blood, Monocytes, Testes, Myeloid, Skin, Smooth muscle, Heart, Endothelial

Animal Models for Thrombasthenia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Thrombasthenia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053847.7ITGA2, ITGA2B, ITGB3, GP1BA, PECAM1
2MP:00053977.0ITGA2, ITGA2B, ITGB3, VTN, GP1BA, PECAM1
3MP:00053766.8PECAM1, GP1BA, VTN, ITGB3, ITGA2B, ITGA2

Publications for Thrombasthenia

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52PubMed
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Articles related to Thrombasthenia:

(show top 50)    (show all 500)
idTitleAuthorsYear
1
Inherited platelet disorders including Glanzmann thrombasthenia and Bernard-Soulier syndrome. (24319190)
2013
2
A novel amino acid substitution of integrin I+IIb in Glanzmann thrombasthenia confirms that the N-terminal region of the receptor plays a role in maintaining I^-propeller structure. (22394243)
2013
3
Acquired Glanzmann Thrombasthenia Associated With Hodgkin Lymphoma: Rapid Reversal of Functional Platelet Defect With ABVD (Adriamycin/Bleomycin/Vinblastine/Dacarbazine) Chemotherapy. (24342105)
2013
4
Intensive menstrual bleeding successfully treated with recombinant factor VIIa in Glanzmann thrombasthenia. (20460355)
2011
5
Glanzmann thrombasthenia detected because of knee hemarthrosis: a case report. (20736850)
2010
6
A novel Pro126His beta propeller mutation in integrin alphaIIb causes Glanzmann thrombasthenia by impairing progression of pro-alphaIIbbeta3 from endoplasmic reticulum to Golgi. (18976939)
2009
7
Modulation of clinical phenotype of Glanzmann's thrombasthenia by thrombogenic mutations. (19245802)
2009
8
Allogeneic stem cell transplantation for Glanzmann thrombasthenia. (19101997)
2009
9
A simple, novel and robust test to diagnose type I Glanzmann thrombasthenia. (18450741)
2008
10
A beta3 Asp217-->Val substitution in a patient with variant Glanzmann Thrombasthenia severely affects integrin alphaIIBbeta3 functions. (18832906)
2008
11
Stem cell transplantation for children with Glanzmann thrombasthenia. (18205861)
2008
12
Glanzmann thrombasthenia in a neonate. (17277431)
2007
13
Glanzmann's thrombasthenia in two pregnant females. (17013816)
2007
14
Diversity of Glanzmann thrombasthenia in southern India: 10 novel mutations identified among 15 unrelated patients. (16879215)
2006
15
Acquired Glanzmann's thrombasthenia associated with acute lymphoblastic leukemia. (16217260)
2005
16
A novel homozygous mutation (1619delC) in GPIIb gene associated with Glanzmann thrombasthenia, the decay of GPIIb-mRNA and the synthesis of a truncated GPIIb unable to form complex with GPIIIa. (15886807)
2005
17
The use of recombinant factor VIla in a primigravida with Glanzmann's thrombasthenia during delivery. (15493726)
2004
18
Rebuttal: the French Gypsy mutation does not give rise to a particularly mild form of Glazmann's thrombasthenia. (14629489)
2003
19
Spontaneous haemothorax: an uncommon presentation of Glanzmann thrombasthenia. (12434904)
2002
20
A point mutation in the cysteine-rich domain of glycoprotein (GP) IIIa results in the expression of a GPIIb-IIIa (alphaIIbbeta3) integrin receptor locked in a high-affinity state and a Glanzmann thrombasthenia-like phenotype. (11588040)
2001
21
Use of recombinant factor VIIa (NovoSeven) in patients with Glanzmann thrombasthenia. (11735106)
2001
22
Glanzmann thrombasthenia: integrin alpha IIb beta 3 deficiency. (11197210)
2000
23
Severe and relapsing upper gastrointestinal bleeding in a patient with Glanzmann's thrombasthenia. (10749344)
2000
24
Beta3-integrin-deficient mice are a model for Glanzmann thrombasthenia showing placental defects and reduced survival. (9916135)
1999
25
Mutations in the alphaIIb and beta3 genes that cause Glanzmann thrombasthenia can be distinguished by a simple procedure using transformed B-lymphocytes. (9493569)
1998
26
Illegitimate transcription: its use for studying genetic abnormalities in lymphoblastoid cells from patients with Glanzmann thrombasthenia. (9450787)
1998
27
GLANZMANN's THROMBASTHENIA-SPECTRUM OF CLINICAL PRESENTATION ON SAUDI PATIENTS IN THE EASTERN PROVINCE. (23008567)
1997
28
Immunization against platelet glycoprotein IIb-IIIa in Glanzmann's thrombasthenia. (9222293)
1997
29
A mutant (Arg327-->His) GPIIb associated to thrombasthenia exerts a dominant negative effect in stably transfected CHO cells. (8883261)
1996
30
A Cys374Tyr homozygous mutation of platelet glycoprotein IIIa (beta 3) in a Chinese patient with Glanzmann's thrombasthenia. (8781422)
1996
31
Hepatic haematoma related to Glanzmann thrombasthenia in a newborn infant. (8616139)
1996
32
Detection by PCR and HphI restriction analysis of a splice site mutation at the 5' end of intron 15 of the platelet GPIIb (alpha IIb integrin) gene responsible for Glanzmann's thrombasthenia type I in Gypsies originating from the Strasbourg area. (8571335)
1995
33
Thrombasthenia--a rare cause of Sheehan's syndrome. (7604695)
1995
34
Glanzmann's thrombasthenia with mild von Willebrand's disease. (8282841)
1993
35
Characterization of an antibody to the integrin beta 3 subunit (GP IIIa) from a patient with neonatal thrombocytopenia and an inherited deficiency of GP IIb-IIIa complexes in platelets (Glanzmann's thrombasthenia). (1633270)
1992
36
Delivery of infants with Glanzmann thrombasthenia and subsequent blood transfusion requirements: a follow-up of 39 patients. (1566741)
1992
37
Antibody removal therapy used successfully at delivery of a pregnant patient with Glanzmann's thrombasthenia and multiple anti-platelet antibodies. (1949709)
1991
38
Aggregation of human peripheral blood mononuclear cells by calcium ionophore A23187. Comparison with the aggregation of platelets and defective response in Glanzmann's thrombasthenia. (3136623)
1988
39
Limited septoplasty as treatment for recurrent epistaxis in a child with Glanzmann's thrombasthenia. (3821355)
1987
40
Glanzmann's thrombasthenia: diagnosis supplemented by HP1-1D monoclonal antibody. (3463656)
1986
41
Ristocetin-induced platelet agglutination in four Chinese patients with Glanzmann's thrombasthenia. (4000715)
1985
42
Glycoprotein IIb-IIIa complex in platelets of patients and heterozygotes of Glanzmann's thrombasthenia. (6229900)
1983
43
Protein and glycoprotein abnormalities in an unusual subtype of Glanzmann's thrombasthenia. (7152371)
1982
44
Relationship between fibrinogen binding and the platelet glycoprotein deficiencies in Glanzmann's thrombasthenia type I and type II. (6454435)
1981
45
Pregnancy and parturition in a patient with severe Glanzmann's thrombasthenia. (7313543)
1981
46
Additional platelet membrane glycoprotein abnormalities in Glanzmann's thrombasthenia: A comparison with normals by high resolution two-dimensional polyacrylamide gel electrophoresis. (6158116)
1980
47
Platelet membrane defects in Glanzmann's thrombasthenia. Evidence for decreased amounts of two major glycoproteins. (70433)
1977
48
Transient thrombasthenia in a patient with tuberculosis. (4453925)
1974
49
Thrombasthenia. (5542851)
1971
50
Glanzmann's thrombasthenia and pregnancy. (5461433)
1970

Variations for Thrombasthenia

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Expression for genes affiliated with Thrombasthenia

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Thrombasthenia

Search GEO for disease gene expression data for Thrombasthenia.

Pathways for genes affiliated with Thrombasthenia

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Sources:
50PathCards, 38NCBI BioSystems Database, 55Reactome, 5Cell Signaling Technology, 54R&D Systems, 30KEGG, 61Tocris Bioscience, 53QIAGEN, 60Thomson Reuters, 51PharmGKB
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Pathways related to Thrombasthenia according to GeneCards/GeneDecks:

(show all 45)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6ITGA2B, ITGB3
29.6ITGA2B, ITGB3
39.6ITGB3, ITGA2B
49.6ITGB3, ITGA2B
59.6ITGA2B, ITGB3
69.5ITGA2B, ITGA2
79.5ITGA2B, ITGA2
89.4GP1BA, ITGA2
9
Show member pathways
9.4ITGB3, VTN
10
Show member pathways
9.4ITGB3, VTN
119.4ITGB3, VTN
129.3GP1BA, VTN
13
Show member pathways
9.2ITGB3, PECAM1
149.2ITGB3, PECAM1
15
Show member pathways
9.1GP1BA, ITGB3, ITGA2B
16
Show member pathways
9.1ITGA2, ITGA2B, ITGB3
17
Show member pathways
9.1ITGB3, ITGA2B, ITGA2
18
Show member pathways
9.1ITGB3, ITGA2B, ITGA2
19
Show member pathways
9.1ITGA2, ITGA2B, ITGB3
20
Show member pathways
9.1ITGA2, ITGA2B, ITGB3
21
Show member pathways
9.1ITGA2, ITGA2B, ITGB3
22
Show member pathways
9.1ITGA2, ITGA2B, ITGB3
23
Show member pathways
9.1ITGA2, ITGA2B, ITGB3
24
Show member pathways
9.1ITGA2, ITGA2B, ITGB3
25
Show member pathways
9.1ITGA2, ITGA2B, ITGB3
269.1ITGA2, ITGA2B, ITGB3
279.1ITGA2, ITGA2B, ITGB3
28
Show member pathways
9.1ITGA2, ITGA2B, ITGB3
29
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy38
9.1ITGB3, ITGA2B, ITGA2
30
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
9.1ITGB3, ITGA2B, ITGA2
318.9ITGA2, ITGB3, VTN
32
Show member pathways
Proteogylcan syndecan-mediated signaling events38
8.9ITGA2, ITGB3, VTN
33
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility60
Cytoskeleton remodeling Integrin outside in signaling60
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases60
Cell adhesion Tight junctions60
Development MAG dependent inhibition of neurite outgrowth60
8.9ITGA2, ITGB3, VTN
34
Show member pathways
8.8ITGA2B, ITGB3, PECAM1
358.6ITGA2, ITGA2B, ITGB3, GP1BA
368.5ITGA2, ITGA2B, ITGB3, VTN
37
Show member pathways
8.5ITGA2, ITGA2B, ITGB3, VTN
388.5VTN, ITGB3, ITGA2B, ITGA2
398.5VTN, ITGB3, ITGA2B, ITGA2
408.1PECAM1, VTN, ITGB3, ITGA2
41
Show member pathways
Integrin-mediated cell adhesion38
Focal Adhesion38
7.9ITGA2, ITGA2B, ITGB3, VTN, GP1BA
42
Show member pathways
7.7PECAM1, GP1BA, ITGB3, ITGA2B, ITGA2
437.6ITGA2, ITGA2B, ITGB3, VTN, PECAM1
44
Show member pathways
7.6ITGA2, ITGA2B, ITGB3, VTN, PECAM1
45
Show member pathways
7.6PECAM1, VTN, ITGB3, ITGA2B, ITGA2

Compounds for genes affiliated with Thrombasthenia

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Sources:
61Tocris Bioscience, 45Novoseek, 24HMDB, 11DrugBank, 51PharmGKB, 29IUPHAR
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Compounds related to Thrombasthenia according to GeneCards/GeneDecks:

(show all 49)
idCompoundScoreTop Affiliating Genes
1a 2869826110.0ITGA2B, ITGB3
2obtustatin6110.0ITGA2B, ITGB3
3bio 12116110.0ITGB3, ITGA2B
4leukadherin 16110.0ITGB3, ITGA2B
5tc-i 156110.0ITGB3, ITGA2B
6rhodostomin459.8VTN, ITGB3
7ristocetin459.8ITGB3, GP1BA
8convulxin459.8GP1BA, ITGA2
9titanium459.7VTN, ITGB3
10grgdsp459.7ITGA2, VTN
11glutaraldehyde459.6VTN, ITGA2
12guanidine45 24 1111.6ITGA2, VTN
13cytochalasin b459.6VTN, GP1BA
14tripeptide459.6ITGA2, VTN
15kininogen459.5GP1BA, VTN
16polyurethane459.5PECAM1, VTN
17n-ethylmaleimide45 1110.4VTN, GP1BA
18fucoidan459.3VTN, PECAM1
19sodium dodecylsulfate459.3VTN, ITGA2
20proline459.2GP1BA, ITGB3, ITGA2
21latex459.2ITGA2, VTN, GP1BA
22epinephrine45 24 1111.2ITGA2, VTN, GP1BA
23clopidogrel45 51 24 1112.1PECAM1, ITGB3, ITGA2
24formaldehyde45 2410.1ITGA2B, GP1BA, PECAM1
25glycosaminoglycan459.1VTN, PECAM1
26aspartate459.1ITGA2, ITGB3, VTN
27sialic acid459.0VTN, PECAM1
28tirofiban45 119.9VTN, ITGB3, ITGA2B, ITGA2
29abciximab45 119.9ITGA2B, ITGB3, VTN, GP1BA
30cytochalasin d45 619.9VTN, GP1BA, PECAM1
31lysine458.9ITGA2, ITGA2B, ITGB3, VTN
32prostacyclin458.9PECAM1, GP1BA, VTN
33matrigel458.9ITGA2, VTN, PECAM1
34phosphatidylinositol458.7ITGA2, VTN, GP1BA
35cycloheximide458.7ITGA2, VTN, PECAM1
36alanine458.6ITGB3, VTN, GP1BA
37threonine458.5ITGA2, ITGB3, GP1BA, PECAM1
38glucose458.5PECAM1, GP1BA, ITGB3, ITGA2
39vegf458.4PECAM1, VTN, ITGB3, ITGA2
40heparin45 29 24 1111.4PECAM1, GP1BA, VTN, ITGA2
41atp45 299.4PECAM1, VTN, ITGB3, ITGA2
42lipid458.3ITGA2, ITGB3, VTN, PECAM1
43cysteine458.1PECAM1, VTN, ITGB3, ITGA2B, ITGA2
44serine458.0PECAM1, GP1BA, VTN, ITGB3, ITGA2B
45aspirin45 51 29 2411.0PECAM1, GP1BA, VTN, ITGB3, ITGA2
46tyrosine457.9PECAM1, GP1BA, VTN, ITGB3, ITGA2
47fibrinogen457.6ITGA2, ITGA2B, ITGB3, VTN, GP1BA, PECAM1
48adp45 29 249.6ITGA2, ITGA2B, ITGB3, VTN, GP1BA, PECAM1
49calcium45 51 24 1110.6ITGA2, ITGA2B, ITGB3, VTN, GP1BA, PECAM1

GO Terms for genes affiliated with Thrombasthenia

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Sources:
16Gene Ontology
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Cellular components related to Thrombasthenia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:0725629.4ITGA2B, VTN
2alphav-beta3 integrin-vitronectin complexGO:0710629.4ITGB3, VTN
3integrin complexGO:0083059.2ITGA2, ITGA2B, ITGB3
4focal adhesionGO:0059259.0ITGB3, ITGA2B, ITGA2
5platelet alpha granule membraneGO:0310928.9ITGA2B, ITGB3, PECAM1
6plasma membraneGO:0058867.4ITGA2, ITGA2B, ITGB3, GP1BA, PECAM1

Biological processes related to Thrombasthenia according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of leukocyte migrationGO:0026879.7ITGA2, ITGA2B
2platelet aggregationGO:0705279.6ITGA2B, ITGB3
3positive regulation of vascular endothelial growth factor receptor signaling pathwayGO:0309499.5ITGB3, VTN
4positive regulation of smooth muscle cell migrationGO:0149119.4VTN, ITGA2
5integrin-mediated signaling pathwayGO:0072299.3ITGA2, ITGA2B, ITGB3
6leukocyte migrationGO:0509009.2ITGB3, PECAM1
7positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.1ITGB3, VTN
8axon guidanceGO:0074119.0ITGB3, ITGA2B, ITGA2
9platelet degranulationGO:0025769.0PECAM1, ITGB3, ITGA2B
10cell-matrix adhesionGO:0071608.7VTN, ITGB3, ITGA2B, ITGA2
11platelet activationGO:0301688.5PECAM1, GP1BA, ITGB3, ITGA2B
12blood coagulationGO:0075968.0ITGA2, ITGA2B, ITGB3, GP1BA, PECAM1
13extracellular matrix organizationGO:0301987.9PECAM1, VTN, ITGB3, ITGA2B, ITGA2
14cell adhesionGO:0071557.4ITGA2, ITGA2B, ITGB3, VTN, GP1BA, PECAM1

Molecular functions related to Thrombasthenia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix bindingGO:0508409.3ITGA2B, VTN
2integrin bindingGO:0051789.3ITGA2, VTN
3protein bindingGO:0055156.8PECAM1, GP1BA, VTN, ITGB3, ITGA2B, ITGA2

Products for genes affiliated with Thrombasthenia

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  • Antibodies
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Sources for Thrombasthenia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet