Thrombasthenia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Thrombasthenia

MalaCards integrated aliases for Thrombasthenia:

Name: Thrombasthenia ¹⁹ ⁷⁵ ⁵ 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

MalaCards based summary: Thrombasthenia is related to glanzmann thrombasthenia 2 and bleeding disorder, platelet-type, 24. 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 whole blood, bone marrow and bone, and related phenotypes are homeostasis/metabolism and nervous system

Wikipedia: ⁷⁵ Glanzmann's thrombasthenia is an abnormality of the platelets. It is an extremely rare coagulopathy... more...

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Related Diseases for Thrombasthenia

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

(show top 50) (show all 343)

#	Related Disease	Score	Top Affiliating Genes
1	glanzmann thrombasthenia 2	32.6	ITGB3 EFCAB13-DT
2	bleeding disorder, platelet-type, 24	32.3	ITGB3 EFCAB13-DT
3	bleeding disorder, platelet-type, 16	32.2	ITGB3 ITGA2B EFCAB13-DT
4	qualitative platelet defect	31.4	SELP ITGA2B GP1BA F3 F2
5	glanzmann thrombasthenia 1	31.0	VTN SELP RASGRP2 PTK2 ITGB3 ITGA2B
6	hemophilia a	30.4	F5 F3 F2
7	hemorrhagic disease	30.4	ITGA2B GP1BA F5 F3 F2
8	factor viii deficiency	30.3	F5 F3 F2
9	purpura	30.2	SELP ITGB3 ITGA2B GP1BA F3 F2
10	factor vii deficiency	30.1	F3 F2 EGF
11	factor xiii deficiency	30.1	F5 F3 F2
12	bleeding disorder, platelet-type, 18	30.0	RASGRP2 ITGB3 ITGA2B
13	fetal and neonatal alloimmune thrombocytopenia	30.0	ITGB3 ITGA2B ITGA2 GP1BA
14	prothrombin deficiency, congenital	30.0	F5 F2
15	prothrombin deficiency	29.9	F3 F2
16	acquired von willebrand syndrome	29.9	GP1BA F3 F2
17	factor xii deficiency	29.8	F5 F3 F2
18	varicose veins	29.8	MTHFR F5 F2
19	factor xi deficiency	29.8	F5 F3 F2
20	von willebrand's disease	29.8	SELP ITGA2B GP9 GP1BA F5 F3
21	blood platelet disease	29.8	SELP ITGB3 ITGA2B ITGA2 GP9 GP1BA
22	disseminated intravascular coagulation	29.8	F5 F3 F2
23	bernard-soulier syndrome	29.7	SELP ITGB3 ITGA2B ITGA2 GP9 GP1BA
24	thrombocytopenia due to platelet alloimmunization	29.7	SELP ITGB3 ITGA2B ITGA2 GP9 GP1BA
25	thrombocytopenic purpura, autoimmune	29.7	SELP ITGB3 ITGA2B GP1BA F3 F2
26	hemophilia b	29.6	GP9 GP1BA F3 F2
27	gray platelet syndrome	29.6	SELP ITGA2B GP9 CD36
28	gingival overgrowth	29.6	ITGA2 EGF CD36
29	sickle cell anemia	29.5	SELP F3 F2 CD36
30	thrombophilia due to thrombin defect	29.5	SELP MTHFR F5 F3 F2
31	pulmonary embolism	29.5	MTHFR GP1BA F5 F3 F2
32	thrombocytosis	29.5	SELP F3 F2
33	atherosclerosis susceptibility	29.5	SELP MTHFR F3 CD36
34	thrombophilia	29.3	SELP MTHFR ITGB3 F5 F3 F2
35	thrombosis	29.0	SELP MTHFR ITGB3 ITGA2B ITGA2 GP1BA
36	lipoprotein quantitative trait locus	29.0	SELP MTHFR ITGB3 ITGA2B F3 F2
37	vascular disease	28.6	VTN SELP MTHFR ITGA2 GP1BA F5
38	myocardial infarction	28.2	SELP MTHFR ITGB3 ITGA2B ITGA2 GP1BA
39	thrombocytopenia	28.0	SELP RASGRP2 MTHFR ITGB3 ITGA2B ITGA2
40	bleeding disorder, platelet-type, 17	11.4
41	schlegelberger grote syndrome	11.0
42	leukocyte adhesion deficiency, type i	11.0
43	leukocyte adhesion deficiency, type iii	11.0
44	congenital disorder of glycosylation, type iic	10.9
45	rare hemorrhagic disorder	10.4
46	malignant gastric germ cell tumor	10.3	ITGB3 ITGA2B
47	cerebral sinovenous thrombosis	10.3	F5 F2
48	childhood acute megakaryoblastic leukemia	10.3	ITGA2B GP1BA
49	lateral sinus thrombosis	10.3	MTHFR F2
50	central nervous system origin vertigo	10.3	MTHFR F2

Graphical network of the top 20 diseases related to Thrombasthenia:

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Symptoms & Phenotypes for Thrombasthenia

MGI Mouse Phenotypes related to Thrombasthenia:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	10.24	CD36 F2 F3 F5 GP1BA HPSE
2	nervous system	MP:0003631	10.17	CD36 F2 F3 F5 ITGA2B ITGB3
3	cellular	MP:0005384	10.1	CD36 F2 F3 GP1BA HPSE ITGA2
4	liver/biliary system	MP:0005370	10.01	CD36 F5 ITGB3 MTHFR PSMG1 PTK2
5	cardiovascular system	MP:0005385	10	CD36 F2 F3 F5 HPSE ITGA2B
6	immune system	MP:0005387	9.93	CD36 EGF F2 F3 GP9 HPSE
7	hematopoietic system	MP:0005397	9.8	CD36 F2 F3 GP1BA GP9 HPSE
8	integument	MP:0010771	9.44	CD36 EGF F2 F3 F5 HPSE

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Drugs & Therapeutics for Thrombasthenia

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

(show all 26)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Fludarabine

Approved

Phase 2

75607-67-9, 21679-14-1

30751 657237

2

Cyclophosphamide

Approved, Investigational

Phase 2

50-18-0, 6055-19-2

2907

3

Antirheumatic Agents

Phase 2

4

Immunosuppressive Agents

Phase 2

5

Alkylating Agents

Phase 2

6

Antineoplastic Agents, Alkylating

Phase 2

7

Antimetabolites

Phase 2

8

Hemostatics

Phase 1, Phase 2

9

Abatacept

Approved

Phase 1

332348-12-6

10

Mycophenolic acid

Approved, Investigational

Phase 1

24280-93-1

446541

11

Immune Checkpoint Inhibitors

Phase 1

12

Cyclosporins

Phase 1

13

Busulfan

Approved, Investigational

55-98-1

2478

14

Alemtuzumab

Approved, Investigational

216503-57-0

15

Iron

Approved

7439-89-6

29936

16

Sodium citrate

Approved, Investigational

68-04-2

23431961

17

Alefacept

Approved, Investigational, Withdrawn

222535-22-0

18

Citric acid

Approved, Nutraceutical, Vet_approved

77-92-9

311

19

Antifibrinolytic Agents

20

Antilymphocyte Serum

21

Immunoglobulins

22

Antibodies

23

Factor VIII

24

Citrate

25

Immunologic Factors

26

Dermatologic Agents

Interventional clinical trials:

(show all 13)

#	Name	Status	NCT ID	Phase	Drugs
1	A Phase II Trial of Haploidentical Allogeneic Stem Cell Transplantation Utilizing Mobilized Peripheral Blood Stem Cells	Active, not recruiting	NCT03333486	Phase 2	Cyclophosphamide;Fludarabine Phosphate
2	Phase 1/2 Study to Evaluate the Pharmacokinetics, Pharmacodynamics, Safety, and Efficacy of Marzeptacog Alfa (Activated) in Treatment of Episodic Bleeding in Subjects With Inherited Bleeding Disorders	Terminated	NCT04548791	Phase 1, Phase 2
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	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)
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	Treatment of Glanzmann's Thrombasthenia: A Prospective Observational Registry	Completed	NCT01476423		activated recombinant human factor VII
7	A Post-Marketing, Observational Study in Iran to Determine the Immunogenicity Status in Patients Who Have Received rFVIIa AryoSeven.	Completed	NCT03372993
8	Glanzmanns 360. The Lived Experience of People With Glanzmanns.	Recruiting	NCT05315232
9	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
10	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
11	Anti-αIIbβ3 Immunization in Glanzmann Thrombasthenia: Prevalence and Associated Risk Factors: Thrombasthenia Anti-αIIbβ3 Antibodies Study (TAAS)	Active, not recruiting	NCT04595617
12	Interest of Sublingual Videomicroscopy for the Prediction of Bleeding in Von Willebrand Disease and Other Constitutional Haemorrhagic Diseases	Not yet recruiting	NCT04119908
13	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

Organs/tissues related to Thrombasthenia:

MalaCards : Whole Blood, Bone Marrow, Bone, Monocytes, Myeloid, Endothelial, B Cells

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Publications for Thrombasthenia

Articles related to Thrombasthenia:

(show top 50) (show all 1394)

#	Title	Authors	PMID	Year
1	Integrin β3 Deficiency Results in Hypertriglyceridemia via Disrupting LPL (Lipoprotein Lipase) Secretion. ⁶² ⁵	Xiao B...Xi X	32237906	2020
2	Glanzmann thrombasthenia: genetic basis and clinical correlates. ⁶² ⁵	Botero JP...ClinGen Platelet Disorder Variant Curation Expert Panel	32139434	2020
3	Identification of one novel pathogenic ITGB3 mutation and two known mutations in two Chinese pedigrees with hereditary Glanzmann thrombasthenia. ⁶² ⁵	Lu Z...Wei H	31088191	2020
4	A Glanzmann thrombasthenia family associated with a TUBB1-related macrothrombocytopenia. ⁶² ⁵	Guillet B...Nurden AT	31565851	2019
5	Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients. ⁶² ⁵	Owaidah T...Al Tassan N	30792900	2019
6	Clinical and molecular insights into Glanzmann's thrombasthenia in China. ⁶² ⁵	Zhou L...Xia L	29675921	2018
7	Novel mutations in Thai patients with glanzmann thrombasthenia. ⁶² ⁵	Ittiwut R...Suphapeetiporn K	28888044	2017
8	Modeling Glanzmann thrombasthenia using patient specific iPSCs and restoring platelet aggregation function by CD41 overexpression. ⁶² ⁵	Hu L...Lin G	28232155	2017
9	Successful management of perioperative hemostasis in a patient with Glanzmann thrombasthenia who underwent a right total mastectomy. ⁶² ⁵	Ogawa Y...Handa H	27696190	2017
10	Glanzmann thrombasthenia in Pakistan: molecular analysis and identification of novel mutations. ⁶² ⁵	Haghighi A...Sayer JA	26096001	2016
11	Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort. ⁶² ⁵	Nurden AT...Vinciguerra C	25728920	2015
12	αIIbβ3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia. ⁶² ⁵	Buitrago L...Coller BS	25827233	2015
13	Characterisation of patients with Glanzmann thrombasthenia and identification of 17 novel mutations. ⁶² ⁵	Sandrock-Lang K...Zieger B	25373348	2015
14	Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study. ⁶² ⁵	Sanchez-Guiu I...Lozano ML	25539746	2014
15	Spontaneous hemarthrosis in combined Glanzmann thrombasthenia and type 2N von Willebrand disease. ⁶² ⁵	Pontara E...Casonato A	24418945	2014
16	A novel amino acid substitution of integrin αIIb in Glanzmann thrombasthenia confirms that the N-terminal region of the receptor plays a role in maintaining β-propeller structure. ⁶² ⁵	Pillois X...Nurden AT	22394243	2013
17	Molecular dynamics analysis of a novel β3 Pro189Ser mutation in a patient with glanzmann thrombasthenia differentially affecting αIIbβ3 and αvβ3 expression. ⁶² ⁵	Laguerre M...Nurden AT	24236036	2013
18	Novel and recurrent mutations of ITGA2B and ITGB3 genes in Korean patients with Glanzmann thrombasthenia. ⁶² ⁵	Park KJ...Kim HJ	22190468	2012
19	Natural history of platelet antibody formation against αIIbβ3 in a French cohort of Glanzmann thrombasthenia patients. ⁶² ⁵	Fiore M...Nurden AT	22250950	2012
20	Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models. ⁶² ⁵	Nurden AT...Pillois X	21917754	2011
21	Are bone defects in rare patients with Glanzmann's thrombasthenia associated with ITGB3 or ITGA2B mutations? ⁶² ⁵	Nurden AT...Pillois X	21557682	2011
22	Mutation analysis for a patient with Glanzmann thrombasthenia who produced a landmark isoantibody to the αIIbβ3 integrin. ⁶² ⁵	Nurden AT...Pillois X	20492470	2010
23	AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function. ⁶² ⁵	Jallu V...Kaplan C	20020534	2010
24	Role of RFLP using TspRI for carrier detection in Glanzmann's thrombasthenia: a report on two families. ⁶² ⁵	Kannan M...Saxena R	19170775	2010
25	Novel Mutations in the GPIIb and GPIIIa Genes in Glanzmann Thrombasthenia. ⁶² ⁵	Pillitteri D...Kirchmaier CM	21113249	2010
26	A unique combination of inhibitory and partially activating mutations in beta3 of a patient with variant-type Glanzmann thrombasthenia. ⁶² ⁵	Nurden AT...Pillois X	20438394	2010
27	Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia. ⁶² ⁵	Kannan M...Saxena R	19691478	2009
28	Novel mutations in GP IIb gene in Glanzmann's thrombasthenia from India. ⁶² ⁵	Vijapurkar M...Shetty S	19172520	2009
29	A beta3 Asp217-->Val substitution in a patient with variant Glanzmann Thrombasthenia severely affects integrin alphaIIBbeta3 functions. ⁶² ⁵	D'Andrea G...Margaglione M	18832906	2008
30	Diversity of Glanzmann thrombasthenia in southern India: 10 novel mutations identified among 15 unrelated patients. ⁶² ⁵	Nelson EJ...Srivastava A	16879215	2006
31	Molecular diversity of Glanzmann thrombasthenia in southern India: new insights into mRNA splicing and structure-function correlations of alphaIIbbeta3 integrin (ITGA2B, ITGB3). ⁶² ⁵	Peretz H...Seligsohn U	16463284	2006
32	Glanzmann thrombasthenia. ⁶² ⁵	Nurden AT	16722529	2006
33	A 13-bp deletion in alpha(IIb) gene is a founder mutation that predominates in Palestinian-Arab patients with Glanzmann thrombasthenia. ⁶² ⁵	Rosenberg N...Seligsohn U	16359514	2005
34	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. ⁶² ⁵	Losonczy G...Muszbek L	15886807	2005
35	Insertion of a C in the exon 28 of integrin alphaIIb gene leading to a frameshift mutation is responsible for Glanzmann thrombasthenia in a Japanese case. ⁶² ⁵	Hayashi T...Tani Y	15748238	2005
36	Double heterozygosity for a novel missense mutation of Ile304 to Asn in addition to the missense mutation His280 to Pro in the integrin beta3 gene as a cause of the absence of platelet alphaIIbbeta3 in Glanzmann's thrombasthenia. ⁶² ⁵	Tanaka S...Tani Y	15634267	2005
37	Triple heterozygosity in the integrin alphaIIb subunit in a patient with Glanzmann's thrombasthenia. ⁶² ⁵	Nurden AT...Rand ML	15099289	2004
38	Glanzmann's thrombasthenia due to a point mutation within intron 10 results in aberrant splicing of the beta3 gene. ⁶² ⁵	Tanaka S...Tani Y	14629479	2003
39	Two novel mutations in the alpha IIb calcium-binding domains identify hydrophobic regions essential for alpha IIbbeta 3 biogenesis. ⁶² ⁵	Mitchell WB...French DL	12424194	2003
40	Two new beta3 integrin mutations in Indian patients with Glanzmann thrombasthenia: localization of mutations affecting cysteine residues in integrin beta3. ⁶² ⁵	Nair S...French DL	12353082	2002
41	A Leu55 to Pro substitution in the integrin alphaIIb is responsible for a case of Glanzmann's thrombasthenia. ⁶² ⁵	Tanaka S...Tani Y	12181054	2002
42	Two different beta3 cysteine substitutions alter alphaIIb beta3 maturation and result in Glanzmann thrombasthenia. ⁶² ⁵	Milet-Marsal S...Bourre F	12152649	2002
43	Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients. ⁶² ⁵	D'Andrea G...GLAnzmann's Thrombasthenia Italian Team (GLATIT)	12083483	2002
44	Nonsense mutation in exon-19 of GPIIb associated with thrombasthenic phenotype. Failure of GPIIb(delta597-1008) to form stable complexes with GPIIIa. ⁶² ⁵	Arias-Salgado EG...Parrilla R	12008952	2002
45	Missense mutations in the beta(3) subunit have a different impact on the expression and function between alpha(IIb)beta(3) and alpha(v)beta(3). ⁶² ⁵	Tadokoro S...Matsuzawa Y	11806996	2002
46	Description of 10 new mutations in platelet glycoprotein IIb (alphaIIb) and glycoprotein IIIa (beta3) genes. ⁶² ⁵	Vinciguerra C...Negrier C	11798398	2001
47	A naturally occurring point mutation in the beta3 integrin MIDAS-like domain affects differently alphavbeta3 and alphaIIIbbeta3 receptor function. ⁶² ⁵	Morel-Kopp MC...Kieffer N	11776310	2001
48	Probing conformational changes in the I-like domain and the cysteine-rich repeat of human beta 3 integrins following disulfide bond disruption by cysteine mutations: identification of cysteine 598 involved in alphaIIbbeta3 activation. ⁶² ⁵	Chen P...Kieffer N	11507099	2001
49	A novel (288delC) mutation in exon 2 of GPIIb associated with type I Glanzmann's thrombasthenia. ⁶² ⁵	Tao J...Parrilla R	11091187	2000
50	A naturally occurring mutation near the amino terminus of alphaIIb defines a new region involved in ligand binding to alphaIIbbeta3. ⁶² ⁵	Basani RB...Poncz M	10607701	2000

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Genes for Thrombasthenia

Genes related to Thrombasthenia (3 elite genes):

(show all 20)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ITGA2B	Integrin Subunit Alpha 2b	Protein Coding	454.69	Pathogenic ⁵ Likely pathogenic ⁵ GeneCards inferred via : Disorders Publications Summaries (show sections)	7706461 8883261 9473221 (more) 9722314 9763559 9920835 10607701 11091187 11798398 12008952 12083483 12181054 12424194 15099289 15748238 15886807 16359514 16463284 16722529 19172520 19691478 20020534 20492470 21113249 21557682 21917754 22190468 22250950 24418945 25373348 25539746 25728920 26096001 27607598 27696190 28888044 28983057 29675921 30792900 31064749 32139434 32237906 32581362 7508443 8282784 8704171 9215749 16199547 16879215 19170775 22394243 25827233 28232155
2	ITGB3	Integrin Subunit Beta 3	Protein Coding	444.62	Pathogenic ⁵ Likely pathogenic ⁵ GeneCards inferred via : Disorders Publications (show sections)	2392682 2428841 9450787 (more) 11507099 11776310 12083483 15583747 16463284 16722529 18832906 20020534 20438394 21113249 22250950 24236036 25373348 25539746 25728920 28983057 30792900 30828542 31064749 31088191 31565851 32139434 32581362 9215749 10233432 11806996 12152649 12353082 14629479 14690453 15634267 16879215 20514620 22190468 32237906
3	EFCAB13-DT	EFCAB13 Divergent Transcript	RNA Gene	425	Pathogenic ⁵ Likely pathogenic ⁵
4	VTN	Vitronectin	Protein Coding	7.92	GeneCards inferred via : Publications (show sections)
5	F2	Coagulation Factor II, Thrombin	Protein Coding	7.86	GeneCards inferred via : Publications (show sections)
6	GP1BA	Glycoprotein Ib Platelet Subunit Alpha	Protein Coding	7.76	GeneCards inferred via : Publications (show sections)
7	RASGRP2	RAS Guanyl Releasing Protein 2	Protein Coding	7.62	GeneCards inferred via : Publications (show sections)
8	EGF	Epidermal Growth Factor	Protein Coding	7.59	GeneCards inferred via : Publications (show sections)
9	F5	Coagulation Factor V	Protein Coding	7.59	GeneCards inferred via : Publications (show sections)
10	GTF3A	General Transcription Factor IIIA	Protein Coding	7.59	GeneCards inferred via : Publications (show sections)
11	MTHFR	Methylenetetrahydrofolate Reductase	Protein Coding	7.59	GeneCards inferred via : Publications (show sections)
12	GP9	Glycoprotein IX Platelet	Protein Coding	7.53	GeneCards inferred via : Publications (show sections)
13	CD36	CD36 Molecule	Protein Coding	7.42	GeneCards inferred via : Publications (show sections)
14	ITGA2	Integrin Subunit Alpha 2	Protein Coding	7.42	GeneCards inferred via : Publications (show sections)
15	F3	Coagulation Factor III, Tissue Factor	Protein Coding	7.24	GeneCards inferred via : Publications (show sections)
16	HPSE	Heparanase	Protein Coding	7.24	GeneCards inferred via : Publications (show sections)
17	PSMG1	Proteasome Assembly Chaperone 1	Protein Coding	7.24	GeneCards inferred via : Publications (show sections)
18	PTK2	Protein Tyrosine Kinase 2	Protein Coding	7.24	GeneCards inferred via : Publications (show sections)
19	SELP	Selectin P	Protein Coding	7.24	GeneCards inferred via : Publications (show sections)
20	THRA	Thyroid Hormone Receptor Alpha	Protein Coding	7.24	GeneCards inferred via : Publications (show sections)

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Variations for Thrombasthenia

ClinVar genetic disease variations for Thrombasthenia:

⁵ (show top 50) (show all 510)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	ITGA2B	NM_000419.5(ITGA2B):c.1544+1G>A	SNV	Pathogenic	2895	rs879255509	GRCh37: 17:42457753-42457753 GRCh38: 17:44380385-44380385
2	ITGA2B	NM_000419.5(ITGA2B):c.1073G>A (p.Arg358His)	SNV	Pathogenic	2896	rs137852908	GRCh37: 17:42460998-42460998 GRCh38: 17:44383630-44383630
3	ITGA2B	NM_000419.5(ITGA2B):c.1357C>T (p.Arg453Ter)	SNV	Pathogenic	631773	rs151179377	GRCh37: 17:42458283-42458283 GRCh38: 17:44380915-44380915
4	ITGA2B	NM_000419.5(ITGA2B):c.2344C>T (p.Arg782Ter)	SNV	Pathogenic	626927	rs1598377051	GRCh37: 17:42453680-42453680 GRCh38: 17:44376312-44376312
5	ITGA2B	NM_000419.5(ITGA2B):c.2883del (p.Phe961fs)	DEL	Pathogenic	627052	rs1598375779	GRCh37: 17:42452087-42452087 GRCh38: 17:44374719-44374719
6	ITGA2B	NM_000419.5(ITGA2B):c.559del (p.Val187fs)	DEL	Pathogenic	627093	rs1469711487	GRCh37: 17:42462934-42462934 GRCh38: 17:44385566-44385566
7	ITGB3	NM_000212.3(ITGB3):c.565C>T (p.Pro189Ser)	SNV	Pathogenic	812736	rs958609406	GRCh37: 17:45362012-45362012 GRCh38: 17:47284646-47284646
8	ITGB3	NM_000212.3(ITGB3):c.1409dup (p.Asn470fs)	DUP	Pathogenic	627234	rs1386425657	GRCh37: 17:45369651-45369652 GRCh38: 17:47292285-47292286
9	ITGA2B	NM_000419.5(ITGA2B):c.1882C>T (p.Arg628Ter)	SNV	Pathogenic	953033	rs1236922680	GRCh37: 17:42456075-42456075 GRCh38: 17:44378707-44378707
10	ITGA2B	NM_000419.5(ITGA2B):c.291del (p.Ser98fs)	DEL	Pathogenic	953034	rs2048645725	GRCh37: 17:42463397-42463397 GRCh38: 17:44386029-44386029
11	ITGA2B	NM_000419.5(ITGA2B):c.91del (p.Ala31fs)	DEL	Pathogenic	953035	rs2048678902	GRCh37: 17:42466751-42466751 GRCh38: 17:44389383-44389383
12	ITGB3	NM_000212.3(ITGB3):c.122_125dup (p.Cys42Ter)	DUP	Pathogenic	953030	rs2065055824	GRCh37: 17:45351826-45351827 GRCh38: 17:47274460-47274461
13	ITGA2B	NM_000419.5(ITGA2B):c.1618C>T (p.Gln540Ter)	SNV	Pathogenic	953031	rs1344768030	GRCh37: 17:42457504-42457504 GRCh38: 17:44380136-44380136
14	ITGB3	NM_000212.3(ITGB3):c.1791del (p.Asn597fs)	DEL	Pathogenic	953049	rs780710721	GRCh37: 17:45376774-45376774 GRCh38: 17:47299408-47299408
15	ITGB3	NM_000212.3(ITGB3):c.79+1G>A	SNV	Pathogenic	953050	rs2064977538	GRCh37: 17:45331307-45331307 GRCh38: 17:47253941-47253941
16	ITGB3	NM_000212.3(ITGB3):c.2113del (p.Leu705fs)	DEL	Pathogenic	953051	rs780384800	GRCh37: 17:45380184-45380184 GRCh38: 17:47302818-47302818
17	ITGB3	NM_000212.3(ITGB3):c.774_775del (p.Cys258_Asp259delinsTer)	MICROSAT	Pathogenic	953052	rs2065103002	GRCh37: 17:45363783-45363784 GRCh38: 17:47286417-47286418
18	ITGA2B	NM_000419.5(ITGA2B):c.2671C>T (p.Gln891Ter)	SNV	Pathogenic	953054	rs200846140	GRCh37: 17:42453015-42453015 GRCh38: 17:44375647-44375647
19	ITGA2B	NM_000419.5(ITGA2B):c.682C>T (p.Gln228Ter)	SNV	Pathogenic	953056	rs2048632227	GRCh37: 17:42462433-42462433 GRCh38: 17:44385065-44385065
20	ITGB3	NM_000212.3(ITGB3):c.1550del (p.Gly517fs)	DEL	Pathogenic	953059	rs1393664515	GRCh37: 17:45369792-45369792 GRCh38: 17:47292426-47292426
21	ITGA2B	NM_000419.5(ITGA2B):c.2915dup (p.Leu973fs)	DUP	Pathogenic	953045	rs781644489	GRCh37: 17:42452054-42452055 GRCh38: 17:44374686-44374687
22	ITGB3	NM_000212.3(ITGB3):c.224del (p.Cys75fs)	DEL	Pathogenic	953063	rs753932639	GRCh37: 17:45360778-45360778 GRCh38: 17:47283412-47283412
23	ITGB3	NM_000212.3(ITGB3):c.1030dup (p.Tyr344fs)	DUP	Pathogenic	953026	rs2065118104	GRCh37: 17:45367136-45367137 GRCh38: 17:47289770-47289771
24	ITGA2B	NM_000419.5(ITGA2B):c.2153dup (p.Cys718fs)	DUP	Pathogenic	953023	rs2048557642	GRCh37: 17:42455099-42455100 GRCh38: 17:44377731-44377732
25	ITGA2B	NM_000419.5(ITGA2B):c.1545-1del	DEL	Pathogenic	953017	rs2048583710	GRCh37: 17:42457670-42457670 GRCh38: 17:44380302-44380302
26	ITGB3	NM_000212.3(ITGB3):c.505C>T (p.Arg169Ter)	SNV	Pathogenic	953061	rs1038392991	GRCh37: 17:45361952-45361952 GRCh38: 17:47284586-47284586
27	ITGA2B	NM_000419.5(ITGA2B):c.624+2C>A	SNV	Pathogenic	953013	rs2048635467	GRCh37: 17:42462652-42462652 GRCh38: 17:44385284-44385284
28	ITGB3	NM_000212.3(ITGB3):c.2014+1G>A	SNV	Pathogenic	953009	rs2065163860	GRCh37: 17:45377945-45377945 GRCh38: 17:47300579-47300579
29	ITGA2B	NM_000419.5(ITGA2B):c.1440-13_1440-1del	DEL	Pathogenic	953002	rs2048585829	GRCh37: 17:42457859-42457871 GRCh38: 17:44380491-44380503
30	ITGA2B	NM_000419.5(ITGA2B):c.1075_1078del (p.Val359fs)	MICROSAT	Pathogenic	953001	rs2048615633	GRCh37: 17:42460993-42460996 GRCh38: 17:44383625-44383628
31	ITGA2B	NM_000419.5(ITGA2B):c.1413C>G (p.Tyr471Ter)	SNV	Pathogenic	953064	rs78218617	GRCh37: 17:42457994-42457994 GRCh38: 17:44380626-44380626
32	ITGB3	NM_000212.3(ITGB3):c.1641C>A (p.Cys547Ter)	SNV	Pathogenic	977131	rs185135224	GRCh37: 17:45369885-45369885 GRCh38: 17:47292519-47292519
33	ITGB3	NM_000212.3(ITGB3):c.1697G>A (p.Gly566Asp)	SNV	Pathogenic	977132	rs2065157059	GRCh37: 17:45376680-45376680 GRCh38: 17:47299314-47299314
34	ITGA2B	NM_000419.5(ITGA2B):c.917dup (p.Arg307fs)	DUP	Pathogenic	996157	rs78321762	GRCh37: 17:42461480-42461481 GRCh38: 17:44384112-44384113
35	ITGB3	NM_000212.3(ITGB3):c.1871G>A (p.Cys624Tyr)	SNV	Pathogenic	996162	rs1181336139	GRCh37: 17:45376854-45376854 GRCh38: 17:47299488-47299488
36	ITGB3	NM_000212.3(ITGB3):c.724C>T (p.Arg242Ter)	SNV	Pathogenic	996164	rs758633284	GRCh37: 17:45363735-45363735 GRCh38: 17:47286369-47286369
37	ITGB3	NM_000212.3(ITGB3):c.1913+1G>A	SNV	Pathogenic	996179	rs2065158302	GRCh37: 17:45376897-45376897 GRCh38: 17:47299531-47299531
38	ITGB3	NM_000212.3(ITGB3):c.166-2A>G	SNV	Pathogenic	996186	rs75354240	GRCh37: 17:45360718-45360718 GRCh38: 17:47283352-47283352
39	ITGA2B	NM_000419.5(ITGA2B):c.799+2T>C	SNV	Pathogenic	996191	rs1194700242	GRCh37: 17:42462314-42462314 GRCh38: 17:44384946-44384946
40	ITGA2B	NM_000419.5(ITGA2B):c.2473_2481delinsTCACCTGGTC (p.Val825fs)	INDEL	Pathogenic	996192	rs2048539289	GRCh37: 17:42453321-42453329 GRCh38: 17:44375953-44375961
41	ITGB3	NM_000212.3(ITGB3):c.100C>T (p.Arg34Ter)	SNV	Pathogenic	996193	rs75427428	GRCh37: 17:45351805-45351805 GRCh38: 17:47274439-47274439
42	ITGA2B	NM_000419.5(ITGA2B):c.1879-2A>G	SNV	Pathogenic	996194	rs77229108	GRCh37: 17:42456080-42456080 GRCh38: 17:44378712-44378712
43	ITGA2B	NM_000419.5(ITGA2B):c.531T>A (p.Cys177Ter)	SNV	Pathogenic	996195	rs79713558	GRCh37: 17:42462962-42462962 GRCh38: 17:44385594-44385594
44	ITGA2B	NM_000419.5(ITGA2B):c.1672C>T (p.Gln558Ter)	SNV	Pathogenic	996196	rs74602141	GRCh37: 17:42457450-42457450 GRCh38: 17:44380082-44380082
45	ITGA2B	NM_000419.5(ITGA2B):c.1618del (p.Gln540fs)	DEL	Pathogenic	996199	rs2048581747	GRCh37: 17:42457504-42457504 GRCh38: 17:44380136-44380136
46	ITGA2B	NM_000419.5(ITGA2B):c.693dup (p.Ala232fs)	DUP	Pathogenic	996204	rs2048632055	GRCh37: 17:42462421-42462422 GRCh38: 17:44385053-44385054
47	ITGA2B	NM_000419.5(ITGA2B):c.1913dup (p.Cys639fs)	DUP	Pathogenic	996206	rs75028796	GRCh37: 17:42456043-42456044 GRCh38: 17:44378675-44378676
48	ITGB3	NM_000212.3(ITGB3):c.262C>T (p.Arg88Ter)	SNV	Pathogenic	996209	rs1399113954	GRCh37: 17:45360816-45360816 GRCh38: 17:47283450-47283450
49	ITGA2B	NM_000419.5(ITGA2B):c.1652G>A (p.Arg551Gln)	SNV	Pathogenic	996210	rs769405222	GRCh37: 17:42457470-42457470 GRCh38: 17:44380102-44380102
50	ITGA2B	NM_000419.5(ITGA2B):c.2236G>T (p.Glu746Ter)	SNV	Pathogenic	996211	rs2048550784	GRCh37: 17:42454408-42454408 GRCh38: 17:44377040-44377040

Sources

Expression for Thrombasthenia

Search GEO for disease gene expression data for Thrombasthenia.

Sources

Pathways for Thrombasthenia

Pathways related to Thrombasthenia according to GeneCards Suite gene sharing:

(show all 33)

#	Super pathways	Score	Top Affiliating Genes
1	Integrin Pathway ⁶⁴ Show member pathways FAK1 Signaling ⁶⁴ GnRH Signaling ⁶⁴ Inhibition of Angiogenesis by TSP1 ⁶⁴ Transendothelial Migration of Leukocytes ⁶⁴ UPA-UPAR Pathway ⁶⁴	13.29	VTN PTK2 ITGB3 ITGA2B ITGA2 F2
2	PI3K-Akt signaling pathway ⁷⁴ Show member pathways Focal adhesion: PI3K-Akt-mTOR-signaling pathway ⁷⁴	12.85	VTN PTK2 ITGB3 ITGA2B ITGA2 EGF
3	Signaling by Receptor Tyrosine Kinases ⁶⁶	12.75	PTK2 ITGB3 ITGA2 F3 EGF
4	DREAM Repression and Dynorphin Expression ⁶⁴ Show member pathways Arrhythmogenic right ventricular cardiomyopathy ⁷⁴ BMP Pathway ⁶⁴ Calpain Protease Regulates Cellular Mechanics ⁶⁴ Caspase Cascade ⁶⁴ nNOS Signaling in Skeletal Muscle ⁶⁴ Presynaptic depolarization and calcium channel opening ⁶⁶ TOB in Osteoblast Signaling ⁶⁴	12.69	PTK2 ITGB3 ITGA2B ITGA2 EGF
5	Development Angiotensin activation of ERK ²² Show member pathways Cell adhesion Integrin inside-out signaling ²² Development ACM2 and ACM4 activation of ERK ²² Development Angiotensin signaling via PYK2 ²² Development EDNRB signaling ²² Development EPO-induced MAPK pathway ²² Development G-Proteins mediated regulation MARK-ERK signaling ²² Signal transduction IP3 signaling ²²	12.69	RASGRP2 PTK2 ITGB3 ITGA2B ITGA2 F2
6	Response to elevated platelet cytosolic Ca2+ ⁶⁶ Show member pathways Disinhibition of SNARE formation ⁶⁶ Hemostasis ⁶⁶ Platelet activation, signaling and aggregation ⁶⁶ Platelet degranulation ⁶⁶	12.5	SELP RASGRP2 PTK2 ITGB3 ITGA2B ITGA2
7	Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases ²² Show member pathways Cell adhesion Integrin-mediated cell adhesion and migration ²² Cell adhesion Tight junctions ²² Cytoskeleton remodeling Integrin outside-in signaling ²² Development MAG-dependent inhibition of neurite outgrowth ²²	12.49	VTN PTK2 ITGB3 ITGA2
8	Complement cascade ⁶⁶ Show member pathways Activation of C3 and C5 ⁶⁶ Classical Complement Pathway ⁶⁴ Complement Pathway ⁶⁴ Complement system ⁷⁴ Complement system in neuronal development and plasticity ⁷⁴ Lectin Induced Complement Pathway ⁶⁴ Regulation of Complement cascade ⁶⁶	12.47	VTN SELP ITGB3 ITGA2B ITGA2 F2
9	VEGF Pathway (Qiagen) ⁶⁴ Show member pathways CCKBR-Gastrin Stimulated Signaling ⁶⁴ Development VEGF-family signaling ²² Neurophilin interactions with VEGF and VEGFR ⁶⁶ VEGF and VEGFR signaling network ⁶¹ VEGF Family Ligands and Receptor Interactions ⁶⁴	12.35	VTN PTK2 ITGB3 EGF
10	Defects of contact activation system (CAS) and kallikrein/kinin system (KKS) ⁶⁶ Show member pathways Blood clotting cascade ⁷⁴ Blood Coagulation Signaling Pathways ⁶⁵ Common Pathway of Fibrin Clot Formation ⁶⁶ Complement and coagulation cascades ⁷⁴ Defective F8 binding to von Willebrand factor ⁶⁶ Defective F8 cleavage by thrombin ⁶⁶ Defective F8 sulfation at Y1699 ⁶⁶ Defective F9 activation ⁶⁶ Defective F9 secretion ⁶⁶ Defective factor IX causes hemophilia B ⁶⁶ Defective factor VIII causes hemophilia A ⁶⁶ Defective factor XII causes hereditary angioedema ⁶⁶ Defective gamma-carboxylation of F9 ⁶⁶ Diseases of hemostasis ⁶⁶ Extrinsic Pathway of Fibrin Clot Formation ⁶⁶ Extrinsic Prothrombin Activation Pathway ⁶⁴ Formation of Fibrin Clot (Clotting Cascade) ⁶⁶ Intrinsic Pathway of Fibrin Clot Formation ⁶⁶ Thrombin/protease-activated receptor (PAR) pathway ⁶¹	12.35	GP9 GP1BA F5 F3 F2
11	Integrin-mediated cell adhesion ⁷⁴ Show member pathways HGF Pathway ⁶⁴	12.16	PTK2 ITGB3 ITGA2B ITGA2
12	MAPK Signaling: Mitogens ⁶⁵ Show member pathways Akt Signaling Pathway ⁶⁵	12.13	PTK2 ITGB3 ITGA2B ITGA2
13	ECM proteoglycans ⁶⁶ Show member pathways Integrin cell surface interactions ⁶⁶ MED and pseudoachondroplasia genes ⁷⁴	12.11	VTN ITGB3 ITGA2B ITGA2
14	Focal adhesion ⁷⁴	12.03	VTN PTK2 ITGB3 ITGA2B ITGA2 EGF
15	Integrin family cell surface interactions ⁶¹ Show member pathways Phagocytosis of Microbes ⁶⁴ Plexin-D1 Signaling ⁶¹	11.96	VTN ITGB3 ITGA2B ITGA2
16	Hematopoietic Stem Cells and Lineage-specific Markers ⁶⁵	11.83	CD36 GP1BA ITGA2 ITGA2B ITGB3
17	Small cell lung cancer ⁷⁴	11.81	PTK2 ITGA2B ITGA2
18	Primary focal segmental glomerulosclerosis (FSGS) ⁷⁴	11.66	VTN PTK2 ITGB3
19	Signaling events mediated by VEGFR1 and VEGFR2 ⁶¹	11.59	VTN PTK2 ITGB3
20	IL4-mediated signaling events ⁶¹	11.57	GTF3A ITGB3 SELP
21	G-protein signaling_RhoA regulation pathway ²²	11.57	RASGRP2 PTK2 ITGB3 ITGA2B ITGA2 EGF
22	Integrins in angiogenesis ⁶¹	11.53	VTN PTK2 ITGB3
23	Integrin signaling ⁶⁶ Show member pathways GRB2:SOS provides linkage to MAPK signaling for Integrins ⁶⁶ p130Cas linkage to MAPK signaling for integrins ⁶⁶ Platelet Aggregation (Plug Formation) ⁶⁶	11.48	RASGRP2 PTK2 ITGB3 ITGA2B GP9 GP1BA
24	Cytoskeleton remodeling_RalA regulation pathway ²²	11.45	PTK2 ITGB3 ITGA2B ITGA2
25	Signaling events mediated by PTP1B ⁶¹	11.41	ITGB3 ITGA2B EGF
26	Platelet Aggregation Inhibitor Pathway, Pharmacodynamics ⁶⁰	11.34	ITGB3 ITGA2B ITGA2 GP9 F2 CD36
27	Beta3 integrin cell surface interactions ⁶¹	11.32	VTN ITGB3 ITGA2B
28	Articular Cartilage Extracellular Matrix ⁶⁵	11.27	HPSE ITGA2 ITGA2B
29	Arf6 signaling events ⁶¹	11.19	ITGB3 ITGA2B EGF
30	Heparin-induced Thrombocytopenia Pathway, Adverse Drug Reaction ⁶⁰	11.19	ITGB3 ITGA2B F3 F2
31	Platelet Adhesion to exposed collagen ⁶⁶ Show member pathways GP1b-IX-V activation signalling ⁶⁶	11.08	ITGA2 GP9 GP1BA
32	G-protein signaling_Rap2B regulation pathway ²²	10.94	PTK2 ITGB3 ITGA2B ITGA2 EGF
33	Ephrin B reverse signaling ⁶¹	10.91	ITGB3 ITGA2B

Sources

GO Terms for Thrombasthenia

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

#	Name	GO ID	Score	Top Affiliating Genes
1	external side of plasma membrane	GO:0009897	9.8	SELP ITGB3 ITGA2B ITGA2 GP1BA F3
2	integrin complex	GO:0008305	9.63	ITGB3 ITGA2B ITGA2
3	glycoprotein Ib-IX-V complex	GO:1990779	9.62	GP9 GP1BA
4	alphav-beta3 integrin-vitronectin complex	GO:0071062	9.56	VTN ITGB3
5	platelet alpha granule membrane	GO:0031092	9.23	SELP ITGB3 ITGA2B CD36

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

(show all 16)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of protein kinase B signaling	GO:0051897	10.13	PTK2 HPSE F3 EGF
2	integrin-mediated signaling pathway	GO:0007229	10.11	PTK2 ITGB3 ITGA2B ITGA2
3	positive regulation of phosphatidylinositol 3-kinase signaling	GO:0014068	10.08	SELP PTK2 F2 EGF
4	cell adhesion	GO:0007155	10.06	CD36 GP1BA GP9 HPSE ITGA2 ITGA2B
5	positive regulation of peptidyl-tyrosine phosphorylation	GO:0050731	10.04	CD36 EGF ITGB3 VTN
6	cell-matrix adhesion	GO:0007160	10.02	VTN ITGB3 ITGA2B ITGA2 HPSE
7	positive regulation of smooth muscle cell migration	GO:0014911	9.93	VTN ITGB3 ITGA2
8	positive regulation of blood coagulation	GO:0030194	9.91	HPSE F2 CD36
9	cerebellar granule cell precursor proliferation	GO:0021930	9.86	PSMG1 EGF
10	cell adhesion mediated by integrin	GO:0033627	9.86	VTN ITGB3 ITGA2B ITGA2
11	blood coagulation, intrinsic pathway	GO:0007597	9.85	GP9 GP1BA
12	positive regulation of platelet activation	GO:0010572	9.85	GP1BA GP9 SELP
13	positive regulation of leukocyte migration	GO:0002687	9.8	SELP ITGB3 ITGA2
14	regulation of body fluid levels	GO:0050878	9.54	F5 F2
15	blood coagulation	GO:0007596	9.53	ITGB3 ITGA2 GP9 GP1BA F5 F3
16	hemostasis	GO:0007599	9.35	GP9 GP1BA F5 F3 F2

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

#	Name	GO ID	Score	Top Affiliating Genes
1	thrombospondin receptor activity	GO:0070053	9.46	F2 CD36
2	extracellular matrix binding	GO:0050840	9.43	VTN ITGB3 ITGA2B
3	integrin binding	GO:0005178	9.32	VTN PTK2 ITGB3 ITGA2B ITGA2

Sources

Sources for Thrombasthenia

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: THR035 MIFTS: 48	Thrombasthenia Categories: Blood diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Drugs Expand all tables

Thrombasthenia

Aliases & Classifications for Thrombasthenia

MalaCards integrated aliases for Thrombasthenia:

Classifications:

External Ids:

Summaries for Thrombasthenia

Related Diseases for Thrombasthenia

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

Graphical network of the top 20 diseases related to Thrombasthenia:

Symptoms & Phenotypes for Thrombasthenia

MGI Mouse Phenotypes related to Thrombasthenia:

Drugs & Therapeutics for Thrombasthenia

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

Interventional clinical trials:

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

Genetic Tests for Thrombasthenia

Anatomical Context for Thrombasthenia

Organs/tissues related to Thrombasthenia:

Publications for Thrombasthenia

Articles related to Thrombasthenia:

Genes for Thrombasthenia

Genes related to Thrombasthenia (3 elite genes):

Variations for Thrombasthenia

ClinVar genetic disease variations for Thrombasthenia:

Expression for Thrombasthenia

Pathways for Thrombasthenia

Pathways related to Thrombasthenia according to GeneCards Suite gene sharing:

GO Terms for Thrombasthenia

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

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

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

Sources for Thrombasthenia

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