TA
MCID: TKY001
MIFTS: 69

Takayasu's Arteritis (TA) malady

Rare diseases, Cardiovascular diseases, Nephrological diseases, Respiratory diseases, Bone diseases, Fetal diseases, Endocrine diseases categories

Summaries for Takayasu's Arteritis

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9Disease Ontology, 44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 Takayasu arteritis is a condition that causes inflammation of the main blood vessel that carries blood from the heart to the rest of the body (aorta) and its associated branched blood vessels. as a result of the inflammation, the blood vessel walls become thick and make it difficult for blood to flow. over time, impaired blood flow causes damage to the heart and various other organs of the body.  although the cause remains unknown, takayasu arteritis appears to be an autoimmune condition, in which cells that fight infection and disease are wrongly targeted against the body's own tissues. last updated: 11/3/2013

MalaCards: Takayasu's Arteritis, also known as takayasu arteritis, is related to vasculitis and ulcerative colitis, and has symptoms including aortic root dilatation/dilation/aneurysm, acute arterial hypertension/hypertensive crisis and endocardium anomalies/fibroelastosis/endocarditis. An important gene associated with Takayasu's Arteritis is HLA-B (major histocompatibility complex, class I, B), and among its related pathways are African trypanosomiasis and MSP-RON Signaling. The drug alprostadil and the compounds lipoteichoic acid and polyinosinic-polycytidylic acid have been mentioned in the context of this disorder. Affiliated tissues include heart, thyroid and lung, and related mouse phenotypes are homeostasis/metabolism and hematopoietic system.

Disease Ontology:9 A syndrome that involves inflammation of the aorta that carries blood from the heart to the rest of the body.

Description from OMIM:48 207600

Aliases & Classifications for Takayasu's Arteritis

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Sources:
9Disease Ontology, 44NIH Rare Diseases, 50Orphanet, 48OMIM, 63UMLS, 59SNOMED-CT, 36MeSH, 41NCIt, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 26ICD10
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
takayasu arteritis:
Inheritance: Sporadic; Prevalence: 1-9/1000000; Age of onset: Adulthood
aortic arch defects:
Inheritance: Sporadic; Age of onset: Childhood


Aliases & Descriptions:

takayasu's arteritis 9
takayasu arteritis 9 44 50 48 63
aortic arch syndrome 9 44
idiopathic aortitis 9 63
thyroid hormone plasma membrane transport defect 63
takayasu's disease& pulseless 9
young female arteritis 44
aortic arch syndromes 63
aortic arch arteritis 9
aortic arches defect 44
aortic arch defects 50
takayasu's disease 9
pulseless disease 44
takayasu disease 44
ta 44


External Ids:

Disease Ontology9 DOID:2508
MeSH36 D001015
OMIM48 207600
NCIt41 C34391
MESH via Orphanet37 D013625
ICD10 via Orphanet27 M31.4, Q25.4
SNOMED-CT via Orphanet60 239937004, 359789008
UMLS via Orphanet64 C0039263
ICD1026 M31.4

Related Diseases for Takayasu's Arteritis

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Takayasu's Arteritis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 115)
idRelated DiseaseScoreTop Affiliating Genes
1vasculitis30.8HLA-B, TNFSF4, CD40LG
2ulcerative colitis30.5IL12B, MMP3, HLA-B
3carotid stenosis30.3PON1
4antiphospholipid syndrome30.2PON1, CD40LG
5systemic lupus erythematosus29.9TNFSF4, C4BPA, CD40LG, PDCD1, MMP3, PON1
6aneurysm10.6
7hypertension10.5
8renovascular hypertension10.5
9aortitis10.5
10cerebritis10.4
11cerebral aneurysms10.4
12polyarteritis nodosa10.4
13subclavian steal syndrome10.4
14aortic aneurysm10.4
15fibromuscular dysplasia10.4
16membranoproliferative glomerulonephritis10.3
17carotid artery dissection10.3
18common variable immunodeficiency10.3
19thoracic aortic aneurysm10.3
20glomerulonephritis10.3
21purpura10.3
22coronary artery aneurysm10.3
23cervical aortic arch10.3
24digeorge syndrome10.2
25aphthous stomatitis10.1HLA-B
26supravalvular aortic stenosis10.1
27focal segmental glomerulosclerosis10.1
28acute interstitial pneumonia10.1
29thrombocytosis10.1
30bronchiectasis10.1
31abdominal aortic aneurysm10.1
32polymyalgia rheumatica10.1
33churg-strauss syndrome10.1
34erythrokeratodermia variabilis10.1
35blau syndrome10.1
36moyamoya disease10.1
37anterior ischemic optic neuropathy10.1
38aortic valve stenosis10.1
39apraxia10.1
40arteriosclerosis10.1
41dilated cardiomyopathy10.1
42endocarditis10.1
43glomerulosclerosis10.1
44infective endocarditis10.1
45lupus erythematosus10.1
46malignant hypertension10.1
47neuritis10.1
48neuropathy10.1
49optic neuritis10.1
50pericardial effusion10.1

Graphical network of the top 20 diseases related to Takayasu's Arteritis:



Diseases related to takayasu's arteritis

Symptoms for Takayasu's Arteritis

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Sources:
48OMIM, 50Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

207600

Clinical features from OMIM:

207600

Symptoms:

50 (show all 48)
  • aortic root dilatation/dilation/aneurysm
  • acute arterial hypertension/hypertensive crisis
  • endocardium anomalies/fibroelastosis/endocarditis
  • aortic valve atresia/stenosis/narrowing/supra-aortic/supra-valvular stenosis
  • anorexia
  • transient amaurosis/acute visual trouble
  • arterial stenosis/occlusion
  • transient cerebral ischemia/stroke
  • arterial aneurism (excluding aorta)
  • asthma/bronchospasm
  • biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • vascularitis/vasculitides/arteritis
  • hemoptysis
  • mesenteric/intestinal infarction
  • arterial pulse abolition
  • acute ischemic syndrome
  • muscle weakness/flaccidity
  • facial pain/cephalalgia/migraine
  • hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
  • insterstitial/subtelomeric microdeletion/deletion
  • retinopathy
  • asthenia/fatigue/weakness
  • visual loss/blindness/amblyopia
  • obnubilation/coma/lethargia/desorientation
  • arthritis/synovitis/synovial proliferation
  • repeat respiratory infections
  • chronic arterial hypertension
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • apnea/sleep apnea
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • hyperhidrosis/increased sweating
  • fever/chilling
  • articular/joint pain/arthralgia
  • pulmonary hypertension
  • angor pectoris/myocardial infarction
  • respiratory rhythm disorder
  • myalgia/muscular pain
  • gangrena/necrosis
  • thoracic/chest pain
  • cardiac valvulopathy
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • chronic skin infection/ulcerations/ulcers/cancrum
  • anaemia
  • cardiomyopathy/hypertrophic/dilated
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • seizures/epilepsy/absences/spasms/status epilepticus

Drugs & Therapeutics for Takayasu's Arteritis

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Takayasu's Arteritis

Drug clinical trials:

Search ClinicalTrials for Takayasu's Arteritis

Search NIH Clinical Center for Takayasu's Arteritis

Search CenterWatch for Takayasu's Arteritis

Inferred drug relations via UMLS63/NDF-RT42:

Genetic Tests for Takayasu's Arteritis

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Anatomical Context for Takayasu's Arteritis

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Sources:
34MalaCards
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MalaCards organs/tissues related to Takayasu's Arteritis:

34
Heart, Thyroid, Lung, T cells, Skin, Bone, Endothelial, Kidney, Spinal cord, Testes

Animal Models for Takayasu's Arteritis or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Takayasu's Arteritis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.4TNFSF4, TTR, PON1, MMP3, IL12A, IL12B
2MP:00053977.2CD40LG, PDCD1, IL12B, IL12A, MMP3, TNFSF4
3MP:00053877.0MMP3, TNFSF4, HLA-B, IL12A, IL12B, PDCD1

Publications for Takayasu's Arteritis

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Sources:
53PubMed
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Articles related to Takayasu's Arteritis:

(show top 50)    (show all 512)
idTitleAuthorsYear
1
Development of a colour Doppler ultrasound scoring system in patients of Takayasu's arteritis and its correlation with clinical activity score (ITAS 2010). (24014648)
2013
2
Intra-muscular arteries are also affected in Takayasu's arteritis. (23011087)
2013
3
Two cases of Takayasu's arteritis occurring under anti-TNF therapy. (22999907)
2013
4
Early endovascular experience for treatments of Takayasu's arteritis. (23351418)
2013
5
MMP-9 and IL-6 are potential biomarkers for disease activity in Takayasu's arteritis. (22330005)
2012
6
Self-reactivity against stress-induced cell molecules: the missing link between Takayasu's arteritis and tuberculosis? (22285197)
2012
7
Proteus Takayasu's arteritis with unusual intracranial granulomatosis as initial manifestation. (20354858)
2012
8
Potential biomarkers for disease activity in Takayasu's arteritis. (22608269)
2012
9
Takayasu's arteritis in children and adolescents: report of three cases. (21953004)
2011
10
Pathogenesis of Takayasu's arteritis: a 2011 update. (21855656)
2011
11
Mycophenolate mofetil in Takayasu's arteritis. (20054700)
2010
12
Stroke as a manifestation of Takayasu's arteritis likely due to distal carotid stump embolism. (20371961)
2010
13
A case of unusual presentation of Takayasu's arteritis. (20195040)
2010
14
Takayasu's arteritis in a patient with Crohn's disease: an unexpected association during infliximab therapy. (20075586)
2010
15
Medical image. Aortic aneurysm in a girl with Takayasu's arteritis. (21326409)
2010
16
Ulcerative colitis associated with Takayasu's arteritis in a child. (19432836)
2009
17
Takayasu's arteritis mimicking aortic intramural hematoma in a female patient with chest pain. (18935716)
2008
18
A case of lupus nephritis coexisting with podocytic infolding associated with Takayasu's arteritis. (18941709)
2008
19
Aortic aneurysm in Takayasu's arteritis. (17985414)
2007
20
Bilateral ocular ischemic syndrome as an initial manifestation of Takayasu's arteritis associated with carotid steal syndrome. (16944156)
2007
21
Takayasu's arteritis: an Indian perspective. (17383909)
2007
22
Abnormal collateral arterial systems in Takayasu's arteritis and Leriche's syndrome evaluated by whole body acquisition using multislice computed tomography. (17156865)
2007
23
A patient with Takayasu's arteritis and rheumatoid arthritis who responded to tacrolimus hydrate. (18025771)
2007
24
Interleukin (IL)-12, IL-2, and IL-6 gene polymorphisms in Takayasu's arteritis from Turkey. (17002904)
2006
25
Post-interventional immunosuppressive treatment and vascular restenosis in Takayasu's arteritis. (16352637)
2006
26
Unprotected left main stent placement in a patient with Takayasu's arteritis: an unusual solution for an unusual disease. (16878640)
2006
27
Surgical management of Takayasu's arteritis. (16479059)
2006
28
Takayasu's arteritis with aortic aneurysm associated with Sweet's syndrome in childhood. (15608327)
2005
29
Takayasu's arteritis and ulcerative colitis in a young non-Asian woman: a rare association. (16363285)
2005
30
Evaluation of cerebral hypoperfusion by nuclear medicine imaging in a patient with Takayasu's arteritis. (16228810)
2005
31
Refractory Takayasu's arteritis successfully treated with the human, monoclonal anti-tumor necrosis factor antibody adalimumab. (16158044)
2005
32
Intravascular ultrasound and fractional flow reserve of equivocal left main stenosis in patients with Takayasu's arteritis: impact on surgical decision-making. (15937934)
2005
33
Interleukin-8 in Takayasu's arteritis: plasma levels and relationship with disease activity. (15675131)
2004
34
Ascending aorta-abdominal aorta bypass for Takayasu's arteritis. (14681103)
2003
35
Horner's syndrome as an initial manifestation of Takayasu's arteritis. (12810438)
2003
36
Takayasu's arteritis with multiple fistulas from three coronary arteries to lung paranchima. (12714218)
2003
37
A 16-year survey of Takayasu's arteritis in a tertiary Belgian center. (15153827)
2003
38
Aortic aneurysm and aortic regurgitation following aortic valve replacement due to Takayasu's arteritis. (11855100)
2002
39
Takayasu's arteritis presenting as ischemic stroke--case report. (12481637)
2002
40
Small vessel vasculitis in Takayasu's arteritis. (17041413)
2002
41
Pulmonary Takayasu's arteritis masquerading as acute pulmonary embolism. (17039181)
2001
42
Takayasu's arteritis presenting with bilateral parenchymal consolidations and severe respiratory failure. (11786722)
2001
43
Complement and cell mediated cytotoxicity by antiendothelial cell antibodies in Takayasu's arteritis. (11327255)
2001
44
Takayasu's arteritis and tuberculosis: a case report. (11147763)
2000
45
Neurosurgical and neuroendovascular management of Takayasu's arteritis. (10764257)
2000
46
Surgical treatment of Takayasu's arteritis. (10980350)
2000
47
Takayasu's arteritis with transient clubbed finger. (10544853)
1999
48
Primary aortoduodenal fistula treated successfully with surgery in a patient with Takayasu's arteritis. (10688426)
1999
49
MICA gene polymorphism in Takayasu's arteritis and Buerger's disease. (9951809)
1998
50
Aortitis syndrome (Takayasu's arteritis) associated with SLE. (1981243)
1990

Variations for Takayasu's Arteritis

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Expression for genes affiliated with Takayasu's Arteritis

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Takayasu's Arteritis

Search GEO for disease gene expression data for Takayasu's Arteritis.

Pathways for genes affiliated with Takayasu's Arteritis

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Sources:
51PathCards, 31KEGG, 54QIAGEN, 61Thomson Reuters, 39NCBI BioSystems Database, 58SinoBiological, 55R&D Systems
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Pathways related to Takayasu's Arteritis according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9IL12B, IL12A
29.9IL12A, IL12B
39.9IL12B, IL12A
49.9IL12A, IL12B
5
Show member pathways
9.6IL12B, IL12A, HLA-B
6
Show member pathways
9.4IL12B, TNFSF8, TNFSF4
79.4IL12A, IL12B, C4BPA
89.3CD40LG, IL12A
99.1CD40LG, C4BPA
10
Show member pathways
9.1TNFSF8, TNFSF4, IL12A, IL12B
11
Show member pathways
9.1TNFSF4, IL12A, IL12B, TNFSF8
12
Show member pathways
9.1IL12B, IL12A, CD40LG
13
Show member pathways
Apoptosis and survival Anti apoptotic TNFs NF kB IAP pathway61
8.9TNFSF8, TNFSF4, CD40LG
14
Show member pathways
8.9TNFSF8, TNFSF4, CD40LG
15
Show member pathways
8.8HLA-B, IL12A, IL12B, CD40LG
168.8HLA-B, CD40LG, PDCD1
17
Show member pathways
8.3TNFSF8, CD40LG, IL12B, IL12A, TNFSF4

Compounds for genes affiliated with Takayasu's Arteritis

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Sources:
46Novoseek, 25HMDB, 30IUPHAR, 52PharmGKB, 12DrugBank, 62Tocris Bioscience
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Compounds related to Takayasu's Arteritis according to GeneCards/GeneDecks:

(show all 43)
idCompoundScoreTop Affiliating Genes
1lipoteichoic acid4610.2HLA-B, IL12B
2polyinosinic-polycytidylic acid4610.0HLA-B, IL12B
3lycopene46 2510.8PON1, TTR
4pneumococcal469.8CD40LG, HLA-B
5polyacrylamide469.7IL12B, TTR, HLA-B
6il-12469.7CD40LG, IL12B
7stresson469.6CD40LG, TTR
8endotoxin469.5HLA-B, CD40LG, IL12B
9phosphorylcholine46 2510.5CD40LG, C4BPA
10sulfasalazine30 46 52 1212.5CD40LG, IL12B, MMP3
11vitamin d469.5IL12B, MMP3, TTR
12clopidogrel46 52 25 1212.4PON1, CD40LG
13glutaraldehyde469.4CD40LG, TTR
14methionine469.4PON1, TTR, MMP3
15mycophenolate mofetil46 52 1211.3IL12A, CD40LG
16cardiolipin46 1210.3CD40LG, C4BPA
17ursodeoxycholic acid46 25 1211.3CD40LG, HLA-B
18pravastatin46 52 30 25 1213.3CD40LG, PON1, MMP3
19carbohydrates469.3HLA-B, TTR, CD40LG
20rantes469.2MMP3, IL12B, CD40LG, HLA-B
21pge2469.2CD40LG, MMP3, IL12B, HLA-B
22hyaluronic acid46 2510.1TTR, MMP3, CD40LG
23polysaccharide469.1HLA-B, CD40LG, PON1
24vitamin b12469.1TTR, PON1, CD40LG
25thyroxine46 2510.0TTR, PON1, CD40LG
26folate469.0PON1, CD40LG, TTR
27vitamin a46 25 1211.0CD40LG, PON1, TTR
28glucose469.0HLA-B, MLX, PON1, MMP3, TTR
29aspirin46 52 30 2512.0TTR, PON1, CD40LG
30paraffin468.9CD40LG, HLA-B, TTR, MMP3
31cyclosporin a46 30 6210.9MMP3, TTR, CD40LG, HLA-B
32dexamethasone46 52 30 1211.8HLA-B, MMP3, CD40LG, TTR
33cholesterol46 30 25 1211.8C4BPA, HLA-B, TTR, MMP3, PON1
34testosterone46 62 25 1211.7CD40LG, PON1, HLA-B, TTR
35ascorbic acid46 259.7CD40LG, PON1, MMP3, TTR
36arginine468.7HLA-B, TTR, CD40LG, PON1
37acetylcholine46 52 30 25 1212.6PON1, MMP3, CD40LG
38creatinine468.5HLA-B, TTR, MMP3, PON1, CD40LG
39heparin46 30 25 1211.5C4BPA, CFHR1, CD40LG, MMP3, PON1
40lactate468.4CD40LG, C4BPA, HLA-B, TTR, MMP3
41alanine468.4TTR, PON1, MMP3, CD40LG
42fibrinogen468.3C4BPA, HLA-B, TTR, PON1, CD40LG
43serine467.9TTR, C4BPA, PON1, CD40LG, MMP3, HLA-B

GO Terms for genes affiliated with Takayasu's Arteritis

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Sources:
17Gene Ontology
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Cellular components related to Takayasu's Arteritis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1interleukin-12 complexGO:0435149.6IL12B, IL12A
2blood microparticleGO:0725629.2C4BPA, PON1, CFHR1
3extracellular spaceGO:0056156.6CD40LG, CFHR1, TNFSF8, TNFSF4, TTR, PON1

Biological processes related to Takayasu's Arteritis according to GeneCards/GeneDecks:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of tyrosine phosphorylation of Stat4 proteinGO:04252010.2IL12B, IL12A
2positive regulation of NK T cell activationGO:05113510.2IL12B, IL12A
3positive regulation of lymphocyte proliferationGO:05067110.2IL12B, IL12A
4positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell targetGO:00286010.2IL12B, IL12A
5positive regulation of natural killer cell activationGO:03281610.1IL12B, IL12A
6positive regulation of smooth muscle cell apoptotic processGO:03439310.1IL12B, IL12A
7positive regulation of memory T cell differentiationGO:04338210.1TNFSF4, IL12B
8response to UV-BGO:01022410.1IL12B, IL12A
9defense response to protozoanGO:04283210.1IL12B, IL12A
10positive regulation of interleukin-10 productionGO:03273310.0IL12B, TNFSF4
11positive regulation of T cell mediated cytotoxicityGO:00191610.0IL12A, HLA-B, IL12B
12negative regulation of smooth muscle cell proliferationGO:04866210.0IL12B, IL12A
13positive regulation of activated T cell proliferationGO:0421049.9TNFSF4, IL12B
14negative regulation of interleukin-17 productionGO:0327009.9IL12A, TNFSF4, IL12B
15positive regulation of inflammatory responseGO:0507299.8TNFSF4, IL12B
16positive regulation of interferon-gamma productionGO:0327299.8IL12B, TNFSF4, IL12A
17positive regulation of cell adhesionGO:0457859.8IL12A, IL12B
18defense response to Gram-positive bacteriumGO:0508309.7TNFSF8, IL12A
19positive regulation of T cell proliferationGO:0421029.6IL12A, IL12B
20positive regulation of interleukin-12 productionGO:0327359.3IL12B, TNFSF4, CD40LG
21immune responseGO:0069559.3IL12A, TNFSF8, HLA-B, TNFSF4

Molecular functions related to Takayasu's Arteritis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1interleukin-12 receptor bindingGO:0051439.8IL12A, IL12B
2receptor bindingGO:0051029.4HLA-B, TNFSF8, TNFSF4
3tumor necrosis factor receptor bindingGO:0051648.9TNFSF4, CD40LG, TNFSF8
4protein heterodimerization activityGO:0469828.8IL12B, IL12A, TTR, MLX
5cytokine activityGO:0051258.3TNFSF4, CD40LG, IL12B, IL12A, TNFSF8

Products for genes affiliated with Takayasu's Arteritis

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Takayasu's Arteritis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet