MCID: THR035
MIFTS: 49

Thrombasthenia malady

Blood category

Summaries for Thrombasthenia

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64Wikipedia, 33MalaCards
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Wikipedia:64 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 PECAM1 interactions and Platelet Adhesion to exposed collagen. The compounds estrogen and epinephrine have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, whole blood and heart, and related mouse phenotypes are limbs/digits/tail and embryogenesis.

Aliases & Classifications for Thrombasthenia

Sources:
43NIH Rare Diseases, 61UMLS
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Classifications:

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


Aliases & Descriptions:

thrombasthenia 43 61


Related Diseases for Thrombasthenia

Sources:
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 172)
idRelated DiseaseScoreTop Affiliating Genes
1glanzmann's thrombasthenia31.6ITGA2B, ITGB3
2bernard-soulier syndrome30.7F2R, GP1BA, RECK, ITGA2, ITGA2B, ITGB3
3thrombocytopenia30.3PECAM1, F2R, GP1BA, F3, RECK, PF4
4hemarthrosis30.2F3, F10, F8, F9
5venous thrombosis30.0F2R, F3, PF4, F10, F8, TNXA
6atherosclerosis30.0PECAM1, VTN, PTK2, THBS1, F2R, F3
7protein s deficiency29.8F3, F8
8factor xii deficiency29.8F3, F9
9autoimmune thrombocytopenic purpura29.8GP1BA, ITGB3, F8
10amyloidosis29.8F10, F9
11factor x deficiency29.8F3, F10, F9
12factor xi deficiency29.8F3, F8, F9
13systemic lupus erythematosus29.8VTN, F3, RECK, F10, F8
14acquired thrombocytopenia10.0
15sheehan syndrome10.0
16hermansky-pudlak syndrome10.0
17acute leukemia10.0
18thrombasthenia of glanzmann and naegeli, itgb3-related10.0
19bernard-soulier syndrome type b10.0
20thrombasthenia of glanzmann and naegeli, itga2b-related10.0
21hematopoietic stem cell transplantation10.0
22hemorrhagic disease10.0F9
23peritonitis10.0PECAM1
24cerebrovascular disease10.0RECK
25lupus erythematosus10.0F3
26polycythemia10.0ITGB3
27liver cirrhosis10.0ITGB3
28protein c deficiency10.0F9
29oral cancer10.0ITGA2
30kaposi's sarcoma10.0F8
31wiskott-aldrich syndrome10.0RECK
32hypertension10.0FN1
33acquired immunodeficiency syndrome10.0F8
34hepatitis a10.0F8
35hyperglycemia10.0PECAM1, VTN
36polycythemia vera10.0PF4, ITGB3
37nephrotic syndrome10.0VTN, F9
38coronary thrombosis10.0F3, ITGB3
39hyperhomocysteinemia10.0F8, F9
40colon adenocarcinoma10.0PTK2
41proliferative diabetic retinopathy10.0VTN, THBS1
42primary hyperoxaluria10.0FN1, F8
43myeloid leukemia10.0RAP1A, FN1
44obesity10.0THBS1, F2R
45factor v deficiency10.0F3, F8
46sickle cell disease10.0THBS1, PF4, F9
47carotid artery thrombosis10.0F3
48pneumonia10.0VTN, F2R, CD9
49stroke, ischemic10.0F3, PF4
50proliferative vitreoretinopathy10.0FN1

Graphical network of the top 20 diseases related to Thrombasthenia:



Diseases related to thrombasthenia

Clinical Features for Thrombasthenia

Drugs & Therapeutics for Thrombasthenia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Genetic Tests for Thrombasthenia

Anatomical Context for Thrombasthenia

Sources:
33MalaCards
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MalaCards organs/tissues related to Thrombasthenia:

33
Bone marrow, Whole blood, Heart, Smooth muscle, Skin, Myeloid, Monocytes, B lymphoblasts, B cells, Endothelial

Animal Models for Thrombasthenia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Thrombasthenia

Sources:
51PubMed
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Articles related to Thrombasthenia:

(show top 50)    (show all 504)
idTitleAuthorsYear
1
Molecular Dynamics Analysis of a Novel I^3 Pro189Ser Mutation in a Patient with Glanzmann Thrombasthenia Differentially Affecting I+IIbI^3 and I+vI^3 Expression. (24236036)
2013
2
Homozygosity by descent of a 3Mb chromosome 17 haplotype causes coinheritance of Glanzmann thrombasthenia and primary ciliary dyskinesia. (24357714)
2013
3
Successful in vitro fertilization and pregnancy in Glanzmann thrombasthenia. (22672198)
2012
4
Are bone defects in rare patients with Glanzmann's thrombasthenia associated with ITGB3 or ITGA2B mutations? (21557682)
2011
5
An I+IIb mutation in patients with Glanzmann thrombasthenia located in the N-terminus of blade 1 of the I^-propeller (Asn2Asp) disrupts a calcium binding site in blade 6. (21029361)
2011
6
Glanzmann's thrombasthenia: an overview. (18930954)
2009
7
Novel mutations in GP IIb gene in Glanzmann's thrombasthenia from India. (19172520)
2009
8
Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia. (19691478)
2009
9
Control of severe bleeding episode in case of Glanzmann's thrombasthenia refractory to platelet transfusion therapy by administering recombinant factor VIIa. (20524499)
2009
10
AlphaIIbG236E causes Glanzmann thrombasthenia by impairing association with beta3. (18791937)
2008
11
Glanzmann's thrombasthenia in two pregnant females. (17013816)
2007
12
Proposed management of pregnancy and labour in an inherited platelet disorder, Glanzmann's thrombasthenia. (17654200)
2007
13
Disulfide bond disruption by a beta 3-Cys549Arg mutation in six Jordanian families with Glanzmann thrombasthenia causes diminished production of constitutively active alpha IIb beta 3. (18064323)
2007
14
Clinical use of recombinant human activated factor VII (rFVIIa) in the prevention and treatment of bleeding episodes in patients with Glanzmann's thrombasthenia. (18078017)
2007
15
Clinical remission of acquired thrombasthenia with low-dose methotrexate in a patient with systemic lupus erythematosus. (16610580)
2006
16
Platelet dysfunction (Glanzmann's thrombasthenia) in horses. (16355691)
2005
17
Correlation of activated clotting time (ACT) with rFVLLa infusion and clinical efficacy in a patient with Glanzmann thrombasthenia and platelet alloantibodies. (12083495)
2002
18
Platelet function assessment in Glanzmann's thrombasthenia. (12402739)
2002
19
Are patients with Glanzmann thrombasthenia and the Bernard-Soulier syndrome protected against atherosclerosis? (11554587)
2001
20
Severe menorrhagia due to Glanzmann thrombasthenia treated with hydrothermal ablation. (10806276)
2000
21
A novel (288delC) mutation in exon 2 of GPIIb associated with type I Glanzmann's thrombasthenia. (11091187)
2000
22
Successful epistaxis control in a patient with Glanzmann thrombasthenia by increased bolus injection dose of recombinant factor VIIa. (10613676)
1999
23
Mutations in the alphaIIb and beta3 genes that cause Glanzmann thrombasthenia can be distinguished by a simple procedure using transformed B-lymphocytes. (9493569)
1998
24
Illegitimate transcription: its use for studying genetic abnormalities in lymphoblastoid cells from patients with Glanzmann thrombasthenia. (9450787)
1998
25
Autoimmune thrombocytopenic purpura (AITP) and acquired thrombasthenia due to autoantibodies to GP IIb-IIIa in a patient with an unusual platelet membrane glycoprotein composition. (9462551)
1998
26
Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia. (9734640)
1998
27
The biologic and clinical spectrum of Glanzmann's thrombasthenia: implications of integrin alpha IIb beta 3 for its pathogenesis. (9246538)
1997
28
Glanzmann thrombasthenia due to a two amino acid deletion in the fourth calcium-binding domain of alpha IIb: demonstration of the importance of calcium-binding domains in the conformation of alpha IIb beta 3. (8704171)
1996
29
Adenine nucleotide binding and photoincorporation in Glanzmann's thrombasthenia platelets. (7794942)
1995
30
Abnormal processing of the glycoprotein IIb transcript due to a nonsense mutation in exon 17 associated with Glanzmann's thrombasthenia. (8585038)
1995
31
Glanzmann's thrombasthenia with mild von Willebrand's disease. (8282841)
1993
32
Statistical analysis of Glanzmann's thrombasthenia in Japan. (8362608)
1993
33
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
34
Glanzmann's thrombasthenia: a rare example of an integrin deficit]. (1462042)
1992
35
Ser-752-->Pro mutation in the cytoplasmic domain of integrin beta 3 subunit and defective activation of platelet integrin alpha IIb beta 3 (glycoprotein IIb-IIIa) in a variant of Glanzmann thrombasthenia. (1438206)
1992
36
A deletion in the gene for glycoprotein IIb associated with Glanzmann's thrombasthenia. (1702098)
1991
37
Decreased stability and structural heterogeneity of the residual platelet glycoprotein IIb/IIIa complex in a variant of Glanzmann's thrombasthenia. (2611137)
1989
38
Thrombasthenia with an abnormal platelet membrane glycoprotein IIb of different molecular weight. (3355897)
1988
39
No relationship in the expression of Mo-1 on monocytes and GP IIb-IIIa on platelets in Glanzmann's thrombasthenia. (3291185)
1988
40
Acquired autoimmune thrombasthenia: a new bleeding disorder. (3121459)
1987
41
Residual amounts of glycoproteins IIb and IIIa may be present in the platelets of most patients with Glanzmann's thrombasthenia. (3156640)
1985
42
Prenatal diagnosis of Glanzmann's thrombasthenia. (2867408)
1985
43
Inheritance of the human platelet alloantigen, PlA1, in type I Glanzmann's thrombasthenia. (7193688)
1981
44
Decreased association of 45calcium with platelets unable to aggregate due to thrombasthenia or prolonged calcium deprivation. (6775678)
1980
45
An abnormal platelet glycoprotein pattern in three cases of Glanzmann's thrombasthenia. (4473996)
1974
46
A case of thrombasthenia with a study of platelet aggregation by hydrogen peroxide (H 2 O 2 ). (4627007)
1972
47
Thrombasthenia. (5542851)
1971
48
New data on Glanzmann's thrombasthenia. (5554449)
1971
49
Major surgery in a patient with thrombasthenia and rapid removal of normal platelets. (5308174)
1969
50
FAMILIAL GLANZMANN'S THROMBASTHENIA. (14250111)
1964

Genetic Variations for Thrombasthenia

Expression for genes affiliated with Thrombasthenia

Sources:
1BioGPS, 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

Sources:
54Reactome, 52QIAGEN, 38NCBI BioSystems Database, 53R&D Systems, 4Cell Signaling Technology, 50PharmGKB, 30KEGG, 12EMD Millipore
See all sources

Pathways related to Thrombasthenia according to GeneCards/GeneDecks:

(show all 42)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3PECAM1, ITGB3
210.3GP1BA, ITGA2
3
Hide members
10.2VTN, PTK2
410.2ITGB3, ITGA2B, ITGA2
5
Hide members
10.1ITGB3, FN1, VTN
610.1VTN, GP1BA, FN1
710.1FN1, ITGA2, ITGA2B
810.1FN1, THBS1, VTN
910.1ITGB3, RECK, PECAM1
10
Hide members
10.1F9, F10, F3
1110.0ITGB3, ITGA2B, ITGA2, F2R
12
Hide members
10.0ITGB3, ITGA2B, ITGA2, PTK2
13
Hide members
10.0ITGB3, ITGA2B, ITGA2, PTK2
1410.0VTN, CD47, FN1, ITGB3
1510.0PECAM1, CD47, FN1, ITGB3
16
Hide members
10.0RAP1A, FN1, ITGA2B, ITGB3
179.9ITGA2B, ITGA2, FN1, PTK2
189.9PTK2, RAP1A, ITGA2B, ITGB3
199.9VTN, FN1, ITGA2, ITGA2B, ITGB3
20
Cell adhesion Endothelial cell contacts by non-junctional mechanisms
Hide members
9.9ITGB3, ITGA2, FN1, VTN, PECAM1
219.9ITGB3, ITGA2B, ITGA2, CD9, GP1BA
22
Development Endothelin-1/EDNRA signaling
Hide members
9.8ITGA2, FN1, RAP1A, PTK2
23
Hide members
9.8F9, F8, F10, F3, GP1BA
24
Hide members
9.8F9, F8, F10, F3, F2R
25
Cell adhesion Integrin-mediated cell adhesion and migration
Hide members
9.8ITGB3, ITGA2, FN1, PTK2, VTN
26
Hide members
9.8PTK2, PF4, ITGA2, ITGA2B, ITGB3
27
Hide members
9.7ITGB3, ITGA2B, ITGA2, FN1, F2R, PTK2
289.7ITGB3, ITGA2, FN1, THBS1, PTK2, VTN
29
Hide members
9.7ITGB3, ITGA2B, FN1, GP1BA, RAP1A, PTK2
30
Hide members
9.6ITGB3, ITGA2B, ITGA2, FN1, RAP1A, PTK2
31
Hide members
9.6ITGB3, ITGA2B, ITGA2, F2R, RAP1A, PTK2
32
Hide members
9.5ITGB3, ITGA2B, ITGA2, FN1, F2R, RAP1A
33
Hide members
9.5F3, GP1BA, F2R, RAP1A, THBS1, PTK2
34
Hide members
9.5ITGB3, ITGA2B, ITGA2, FN1, PF4, RAP1A
359.5ITGB3, ITGA2B, ITGA2, FN1, F2R, THBS1
36
Hide members
9.4F8, ITGB3, ITGA2B, FN1, CD9, PF4
37
Hide members
9.4ITGB3, ITGA2B, ITGA2, FN1, RAP1A, THBS1
38
Hide members
9.2VTN, THBS1, F3, FN1, F10, ITGA2
39
Hide members
9.2PECAM1, ITGB3, ITGA2B, ITGA2, FN1, CD47
40
Hide members
9.1F9, F8, ITGB3, ITGA2B, ITGA2, F10
41
Hide members
9.0ITGB3, ITGA2B, ITGA2, FN1, PF4, F2R
42
Hide members
8.9ITGB3, ITGA2B, PECAM1, VTN, PTK2, THBS1

Compounds for genes affiliated with Thrombasthenia

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 50PharmGKB, 60Tocris Bioscience
See all sources

Compounds related to Thrombasthenia according to GeneCards/GeneDecks:

(show top 50)    (show all 186)
idCompoundScoreTop Affiliating Genes
1estrogen4510.4F8, F9
2epinephrine45 11 2412.3F8, PF4, F3, GP1BA
3danaparoid4510.2TNXA, F10, PF4, F3
4kaolin4510.2F8, F10, F3, F9
5cacl24510.2F10, F8, F3, THBS1, F9
6fondaparinux4510.1F9, PF4, TNXA, F10, F3
7grgds4510.1F3, FN1, PTK2, THBS1, VTN
8bivalirudin45 1111.1F3, F2R, TNXA, F10
9adp45 29 2412.1ITGA2B, ITGA2, CD9, PF4, F2R, PECAM1
10gamma-carboxyglutamic acid4510.1PF4, F10, F3, TNXA, F9
11kininogen4510.0VTN, GP1BA, F3, PF4, F9, THBS1
12clopidogrel50 45 11 2413.0ITGA2, F10, ITGB3, F3, PECAM1, TNXA
13ristocetin4510.0F2R, GP1BA, F3, RECK, ITGB3, F8
14grgdsp4510.0FN1, THBS1, VTN, ITGA2
15aspartate4510.0F8, F10, F2R, VTN
16glucose4510.0F2R, PF4, RECK, GP1BA, THBS1, PTK2
17abciximab45 1110.9VTN, F2R, GP1BA, F3, PF4, F10
18tirofiban45 1110.9ITGB3, ITGA2B, ITGA2, F10, VTN, F2R
19dermatan sulfate459.9TNXA, F9, F10, FN1, PF4, F3
20cytochalasin d45 6010.9PECAM1, GP1BA, F2R, THBS1, PTK2, VTN
21aprotinin45 1110.9F3, F9, F10, FN1, PF4, RECK
22thromboxane a245 2410.9F8, ITGA2, PF4, F2R, PTK2, CD9
23polyethylene glycol459.8VTN, F10, FN1, CD9, PF4, F8
24dextran sulfate459.8VTN, THBS1, F3, PF4, CD9, FN1
25phospholipid459.7F8, TNXA, F9, ITGA2, F10, F3
26polyacrylamide459.7ITGA2, F9, TNXA, F8, FN1, RECK
27hirudin459.7THBS1, F2R, GP1BA, F3, PF4, F10
28matrigel459.7ITGA2, PECAM1, VTN, PTK2, THBS1, FN1
29phosphatidylserine45 29 1111.6GP1BA, F3, RECK, CD47, F10, PTK2
30ly294002459.5VTN, PTK2, RAP1A, F2R, THBS1, CD9
31serine459.4F10, FN1, CD47, GP1BA, THBS1, PTK2
32latex459.4F2R, GP1BA, PF4, CD9, FN1, ITGA2
33prostacyclin459.4PECAM1, VTN, PTK2, THBS1, RAP1A, F2R
34vegf459.4PF4, RECK, F3, F2R, RAP1A, THBS1
35lysine459.4F8, F9, VTN, TNXA, RECK, PF4
36polysaccharide459.4TNXA, F8, ITGA2, F10, FN1, CD9
3712-o-tetradecanoylphorbol 13-acetate459.3PF4, CD9, ITGA2, ITGA2B, PTK2, RAP1A
38phosphatidylinositol459.3THBS1, ITGA2, PTK2, CD9, CD47, GP1BA
39cholesterol45 29 11 2412.3PTK2, F8, F9, CD47, PF4, RECK
40heparin45 29 11 2412.3F9, F8, ITGA2, F10, FN1, PF4
41methionine459.3F9, RECK, ITGA2, THBS1, FN1, F8
42aspirin45 50 29 2412.2TNXA, PECAM1, VTN, F8, ITGB3, ITGA2
43retinoic acid45 2410.2PTK2, CD47, CD9, ITGA2, FN1, F3
44lipid459.2RAP1A, THBS1, RECK, PF4, VTN, ITGA2
45arginine459.1VTN, RAP1A, F10, F2R, RECK, PTK2
46alanine459.0ITGB3, F10, FN1, CD9, PF4, F3
47cysteine458.8F9, VTN, PECAM1, PTK2, THBS1, F2R
48tyrosine458.7RAP1A, F9, VTN, PTK2, THBS1, CD9
49calcium45 50 11 2411.5F9, TNXA, PTK2, VTN, PECAM1, THBS1
50fibrinogen458.4F9, TNXA, RECK, PF4, GP1BA, CD47

GO Terms for genes affiliated with Thrombasthenia

Sources:
16Gene Ontology
See all sources

Cellular components related to Thrombasthenia according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1alphav-beta3 integrin-vitronectin complexGO:07106210.4VTN, ITGB3
2integrin complexGO:00830510.3ITGB3, ITGA2B, ITGA2
3platelet alpha granule membraneGO:03109210.2PECAM1, CD9, ITGA2B, ITGB3
4intrinsic to external side of plasma membraneGO:03123310.2F3, F10
5platelet alpha granule lumenGO:03109310.1F8, FN1, PF4, THBS1
6extracellular matrixGO:03101210.1FN1, F3, THBS1, VTN
7fibrinogen complexGO:0055779.9THBS1, FN1
8external side of plasma membraneGO:0098979.9ITGA2B, ITGA2, CD9, THBS1
9extracellular spaceGO:0056159.8F8, FN1, PF4, F3, THBS1, VTN
10integral to plasma membraneGO:0058879.7ITGA2B, CD9, CD47, GP1BA, F2R, ITGB3
11extracellular regionGO:0055769.5F9, F8, F10, FN1, PF4, F2R
12plasma membraneGO:0058868.8F10, ITGA2, ITGA2B, ITGB3, F8, F9

Biological processes related to Thrombasthenia according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1blood coagulation, extrinsic pathwayGO:00759810.3F3, F10, F9
2cell-substrate junction assemblyGO:00704410.3FN1, ITGB3
3regulation of blood coagulationGO:03019310.3F2R, GP1BA
4blood coagulation, intrinsic pathwayGO:00759710.2F9, F8, F10, GP1BA
5cell-matrix adhesionGO:00716010.2ITGB3, ITGA2B, ITGA2, VTN
6positive regulation of smooth muscle cell migrationGO:01491110.2PTK2, VTN
7positive regulation of blood coagulationGO:03019410.1THBS1, F2R
8positive regulation of protein kinase B signaling cascadeGO:05189710.1PTK2, THBS1, F3, F10
9leukocyte migrationGO:05090010.1ITGB3, FN1, CD47, PECAM1
10integrin-mediated signaling pathwayGO:00722910.1ITGB3, ITGA2B, ITGA2, CD47, PTK2
11positive regulation of cell migrationGO:03033510.0F10, F3, F2R, THBS1, PTK2
12peptidyl-glutamic acid carboxylationGO:0171879.9F9, F10
13platelet degranulationGO:0025769.7F8, ITGB3, ITGA2B, FN1, CD9, PF4
14extracellular matrix organizationGO:0301989.7ITGB3, ITGA2B, ITGA2, FN1, RECK, THBS1
15cell adhesionGO:0071559.4F8, ITGB3, ITGA2B, ITGA2, FN1, CD9
16platelet activationGO:0301689.1F8, PECAM1, PTK2, THBS1, RAP1A, F2R
17blood coagulationGO:0075968.5F9, F8, ITGB3, ITGA2B, PECAM1, PTK2

Molecular functions related to Thrombasthenia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1thrombin receptor activityGO:01505710.3F2R, GP1BA
2integrin bindingGO:0051789.8VTN, CD9, THBS1, PTK2
3heparin bindingGO:0082019.6FN1, PF4, THBS1, VTN
4protein bindingGO:0055158.2CD47, FN1, CD9, ITGA2, RECK, F3

Products for genes affiliated with Thrombasthenia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Thrombasthenia

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet