TA
MCID: TKY001
MIFTS: 72

Takayasu's Arteritis (TA) malady

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

Summaries for Takayasu's Arteritis

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8Disease Ontology, 42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 hypertension and congenital heart defect, and has symptoms including transient cerebral ischemia/stroke, mesenteric/intestinal infarction 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 Malaria and Legionellosis. The drug alprostadil and the compounds endotoxin and stresson have been mentioned in the context of this disorder. Affiliated tissues include heart, thyroid and lung, and related mouse phenotypes are renal/urinary system and tumorigenesis.

Disease Ontology:8 A syndrome that involves inflammation of the aorta that carries blood from the heart to the rest of the body.

Description from OMIM:46 207600

Aliases & Classifications for Takayasu's Arteritis

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 60UMLS, 48Orphanet, 46OMIM, 56SNOMED-CT, 39NCIt, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

48
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 8
takayasu arteritis 42 48 46 60
aortic arch syndrome 8 42
idiopathic aortitis 8 60
thyroid hormone plasma membrane transport defect 60
takayasu's disease& pulseless 8
young female arteritis 42
aortic arch syndromes 60
aortic arch arteritis 8
aortic arches defect 42
aortic arch defects 48
takayasu's disease 8
pulseless disease 42
takayasu disease 42
ta 42


External Ids:

Disease Ontology8 DOID:2508
OMIM46 207600
NCIt39 C34391
MeSH34 D001015
MESH via Orphanet35 D013625
ICD10 via Orphanet26 M31.4, Q25.4
SNOMED-CT via Orphanet57 239937004, 359789008
UMLS via Orphanet61 C0039263
ICD1025 M31.4

Related Diseases for Takayasu's Arteritis

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Sources:
17GeneCards, 18GeneDecks
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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 256)
idRelated DiseaseScoreTop Affiliating Genes
1hypertension30.7MLX
2congenital heart defect30.5MLX, CD40LG, HP, MMP3
3antiphospholipid syndrome30.3CD40LG
4lupus erythematosus30.1CD40LG
5thyroiditis30.1PTPN22
6pneumonia30.1MYD88
7tuberculosis30.1IL12B, HP, MYD88, LBR
8sarcoidosis30.1IL12B, LBR
9systemic lupus erythematosus30.1PDCD1, TNFSF4, LBR, C4BPA, CD40LG, IL12B
10myocardial infarction30.0ITGA2B
11vasculitis30.0TNFSF4, HLA-B, CD40LG
12ovarian cancer30.0HP, LBR
13malaria30.0IL12B, HP, HLA-B
14myeloma29.8HLA-B, CD40LG
15adenoma29.8TNFSF8, HLA-B
16diabetes mellitus29.8HLA-B, ITGA2B, CD40LG, HP, MMP3, PTPN22
17atherosclerosis29.8MMP3, IL12B, HP, CD40LG, MYD88, ITGA2B
18thyroid hormone plasma membrane transport defect10.6
19renovascular hypertension10.4
20cerebral arteritis10.4
21cerebritis10.4
22patent foramen ovale10.4
23glanzmann's thrombasthenia10.4
24atrioventricular septal defect10.4
25congenital diaphragmatic hernia10.4
26atrial heart septal defect10.4
27urea cycle disorder10.4
28hereditary folate malabsorption10.4
29zap70-related severe combined immunodeficiency10.4
30acro-pectoro-renal field defect10.4
31ankle defects short stature10.4
32axial mesodermal dysplasia spectrum10.4
33branchial arch defects10.4
34cardioskeletal syndrome kuwaiti type10.4
35sacral defect with anterior meningocele10.4
36caudal regression syndrome10.4
37chylomicron retention disease10.4
38x-linked creatine deficiency10.4
39cystinosis, ocular nonnephropathic10.4
40hmg coa lyase deficiency10.4
41imerslund-grasbeck syndrome10.4
42defective apolipoprotein b-10010.4
43diaphragmatic hernia upper limb defects10.4
44peroxisome disorders10.4
45heart defect, tongue hamartoma and polysyndactyly10.4
46hermansky pudlak syndrome 210.4
47heterotaxy10.4
48red cell phospholipid defect with hemolysis10.4
49hyperthermia induced defects10.4
50lateral body wall defect10.4

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



Diseases related to takayasu's arteritis

Clinical Features for Takayasu's Arteritis

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Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

207600

Clinical synopsis from OMIM:

207600

Symptoms:

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

Drugs & Therapeutics for Takayasu's Arteritis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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 UMLS60/NDF-RT40:

Genetic Tests for Takayasu's Arteritis

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Anatomical Context for Takayasu's Arteritis

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Sources:
32MalaCards
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MalaCards organs/tissues related to Takayasu's Arteritis:

32
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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36MGI
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MGI Mouse Phenotypes related to Takayasu's Arteritis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.7PTPN22, HP, CD40LG, MYD88, TRD, PDCD1
2MP:00020069.6PDCD1, TRD, MYD88, HP, IL12B
3MP:00053979.3PDCD1, TNFSF4, LBR, HLA-B, ITGA2B, TRD
4MP:00053849.2PDCD1, TNFSF4, LBR, HLA-B, ITGA2B, TRD
5MP:00053769.1MYD88, TRD, ITGA2B, LBR, TNFSF4, CD40LG
6MP:00053878.9PTPN22, PDCD1, TNFSF8, TNFSF4, TNFSF9, LBR

Publications for Takayasu's Arteritis

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Sources:
50PubMed
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Articles related to Takayasu's Arteritis:

(show top 50)    (show all 518)
idTitleAuthorsYear
1
Two cases of Takayasu's arteritis occurring under anti-TNF therapy. (22999907)
2013
2
The characteristics of patients having ankylosing spondylitis associated with Takayasu's arteritis. (24310108)
2013
3
Takayasu's arteritis presenting as digital gangrene of right hand. (23314451)
2013
4
Clinical images: PET-CT and contrast-enhanced ultrasound in Takayasu's arteritis. (24196386)
2013
5
Crohn's disease and Takayasu's arteritis: an uncommon association. (24124342)
2013
6
Tumor necrosis factor alpha inhibitors in patients with Takayasu's arteritis refractory to standard immunosuppressive treatment: cases series and review of the literature. (23995735)
2013
7
Preventing a central nervous system catastrophe in a case of Takayasu's arteritis presenting with critical stenosis of all three arch vessels. (22623007)
2012
8
Distribution of arterial lesions in Takayasu's arteritis and giant cell arteritis. (22328740)
2012
9
Takayasu's arteritis is associated with HLA-B*52, but not with HLA-B*51, in Turkey. (22309845)
2012
10
Takayasu's arteritis in children and adolescents: report of three cases. (21953004)
2011
11
Abdominal angina: an unusual presentation of Takayasu's arteritis. (22696728)
2011
12
Cardiomyopathy as one of the less frequent manifestations of Takayasu's arteritis. (22283112)
2011
13
Diagnosis of a 65-year-old male patient with Takayasu's arteritis by 18F-FDG PET/CT. (19823833)
2011
14
Familial Takayasu's arteritis in female siblings. (19856180)
2011
15
Unusual presentation of Takayasu's arteritis as posterior reversible encephalopathy syndrome. (22028540)
2011
16
Assessment of mechanical properties of common carotid artery in Takayasu's arteritis using velocity vector imaging. (20453392)
2010
17
Pregnancy in Takayasu's arteritis with bilateral renal artery and abdominal aorta stents. (20522083)
2010
18
Apparent perioperative hypotension: an unusual presentation of Takayasu's arteritis. (19770661)
2010
19
Coil embolization of a ruptured anterior communicating aneurysm in Takayasu's arteritis. (20228486)
2010
20
Long-term outcome of drug-eluting stent for coronary artery stenosis in Takayasu's arteritis. (20466445)
2010
21
Diagnosing Takayasu's Arteritis. (18793239)
2009
22
Takayasu's arteritis as a cause of carotidynia: clinical and imaging features. (18432036)
2008
23
Abnormal collateral arterial systems in Takayasu's arteritis and Leriche's syndrome evaluated by whole body acquisition using multislice computed tomography. (17156865)
2007
24
Medical image. A vascular phenomenon. Takayasu's arteritis with Raynaud's phenomenon. (17632601)
2007
25
Left main stem disease in a patient with Takayasu's arteritis. (17923882)
2007
26
P-selectin expression, but not GPIIb/IIIa activation, is enhanced in the inflammatory stage of Takayasu's arteritis. (16636497)
2006
27
Usefulness of fluorine-18-fluorodeoxyglucose positron emission tomography in a patient with Takayasu's arteritis associated with antiphospholipid syndrome. (16607057)
2006
28
Crohn's disease and Takayasu's arteritis: is this association difficult to find out? (17108874)
2006
29
Anti-endothelial cell antibodies and antiphospholipid antibodies in Takayasu's arteritis: correlations of their titers and isotype distributions with disease activity. (16859589)
2006
30
Successful management of left main coronary artery stenosis with a paclitaxel-eluting stent in Takayasu's arteritis. (16516707)
2006
31
Segmental ulcerative vasculitis: a cutaneous manifestation of Takayasu's arteritis. (16618320)
2005
32
Coronary reserve in Takayasu's arteritis: transesophageal echocardiographic analysis. (16060896)
2005
33
Histological verification of non-specific aorta-arteritis (Takayasu's arteritis) using percutaneous transluminal atherectomy. (15623203)
2004
34
A case of renovascular hypertension due to Takayasu's arteritis associated with systemic lupus erythematosus in a man. (15077876)
2004
35
Expression of costimulatory molecules (4-1BBL and Fas) and major histocompatibility class I chain-related A (MICA) in aortic tissue with Takayasu's arteritis. (14752253)
2004
36
Takayasu's arteritis: vascular interventions and outcomes. (14705227)
2004
37
Takayasu's arteritis: results of a university hospital of 45 patients in Turkey. (15262043)
2004
38
Exclusive carbon dioxide-guided renal artery stenting in a case of Takayasu's arteritis with a solitary functioning kidney. (14560941)
2003
39
Takayasu's arteritis. (11798980)
2002
40
A case of lupus nephritis with alteration of the glomerular basement membrane associated with Takayasu's arteritis. (12227690)
2002
41
Long-term outcome of bilateral autotransplantation in a child with Takayasu's arteritis. (12441984)
2002
42
Pulmonary Takayasu's arteritis masquerading as acute pulmonary embolism. (17039181)
2001
43
Takayasu's arteritis presenting with bilateral parenchymal consolidations and severe respiratory failure. (11786722)
2001
44
Complement and cell mediated cytotoxicity by antiendothelial cell antibodies in Takayasu's arteritis. (11327255)
2001
45
Bilateral ostial coronary artery stenoses: an important presentation of Takayasu's arteritis. (11303009)
2001
46
Takayasu's arteritis associated with intrarenal vessel involvement. (10793032)
2000
47
Takayasu's arteritis is no iceberg. (10731357)
1999
48
Sarcoidosis with palpable nodular myositis, periostitis and large-vessel vasculitis stimulating Takayasu's arteritis. (10325674)
1999
49
Takayasu's arteritis with renovascular hypertension: results of surgical treatment. (10519671)
1999
50
The acute diagnosis of Takayasu's arteritis based on helical CT angiography of the chest and neck in the emergency room. (10588131)
1999

Genetic Variations for Takayasu's Arteritis

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Expression for genes affiliated with Takayasu's Arteritis

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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:
29KEGG, 12EMD Millipore, 51QIAGEN, 55SinoBiological, 52R&D Systems, 53Reactome
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Pathways related to Takayasu's Arteritis according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.4MYD88
210.2MYD88, IL12B, IL12A
310.2IL12A, IL12B, MYD88
4
Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway
Hide members
10.2CD40LG, TNFSF4, TNFSF8
5
Hide members
10.1IL12A, IL12B, MYD88, HLA-B
6
Hide members
10.1IL12A, IL12B, CD40LG, HLA-B
710.1C4BPA, MYD88, IL12B, IL12A
8
Hide members
10.1MYD88, CD40LG, IL12B, IL12A
9
Hide members
10.1TNFSF8, TNFSF4, TNFSF9, IL12A
10
Hide members
10.0CD40LG, TNFSF9, TNFSF4, TNFSF8
11
Hide members
9.9TNFSF8, TNFSF4, TNFSF9, ITGA2B, IL12B, IL12A
12
Hide members
9.9IL12A, IL12B, MYD88, TNFSF9, TNFSF4, TNFSF8
13
Hide members
9.8TNFSF8, TNFSF4, TNFSF9, IL12B, IL12A, PTPN22
14
Hide members
9.8PDCD1, C4BPA, HLA-B, MYD88, MICA, CD40LG
15
Hide members
9.8TNFSF8, TNFSF4, TNFSF9, ITGA2B, MYD88, IL12B

Compounds for genes affiliated with Takayasu's Arteritis

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Sources:
44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 24HMDB, 59Tocris Bioscience
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Compounds related to Takayasu's Arteritis according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
1endotoxin4410.8MYD88
2stresson4410.6TTR, CD40LG
3lipoteichoic acid4410.5IL12B, MYD88, HLA-B
4dexamethasone44 49 28 1113.5CD40LG, LBR
5rantes4410.5IL12B, CD40LG, HLA-B, LBR
6tuberculin4410.5HP, CD40LG, LBR
7ursodeoxycholic acid44 11 2412.4CD40LG, HLA-B, LBR
8sulfasalazine44 28 49 1113.4CD40LG, HP, IL12B, MMP3
9serine4410.4MMP3, HP, ITGA2B, HLA-B
10ribavirin44 49 1112.4LBR, HLA-B, CD40LG, HP
11pentoxifylline44 1111.4LBR, HP, IL12B
12neopterin4410.4TTR, HP, CD40LG, LBR
13carbohydrates4410.3TTR, HP, CD40LG, HLA-B
14vitamin b124410.3CD40LG, HP, TTR
15hyaluronic acid44 2411.3CD40LG, HP, MMP3, TTR
16glucose4410.3MLX, LBR
17polyacrylamide4410.3HLA-B, TRD, HP, IL12B, TTR
18vitamin d4410.3LBR, HP, IL12B, MMP3, TTR
19cyclosporin a44 28 5912.2LBR, HLA-B, CD40LG, HP, MMP3, TTR
20fibrinogen4410.2C4BPA, HLA-B, ITGA2B, CD40LG, HP, TTR
21epinephrine44 11 2412.2TTR, HP, CD40LG, LBR
22ascorbic acid44 2411.2CD40LG, HP, MMP3, TTR
23vitamin-e4410.2LBR, HP, TTR
24pneumococcal4410.2CD40LG, HLA-B
25methionine4410.2TTR, MMP3, HP, LBR
26lactate4410.2C4BPA, HLA-B, CD40LG, HP, MMP3, TTR
27creatinine4410.2TTR, MMP3, HP, CD40LG, HLA-B
28heparin44 28 11 2413.1LBR, C4BPA, CD40LG, HP, MMP3, CFHR1
29sodium dodecylsulfate4410.1TTR, IL12B, HP
30cholesterol44 28 11 2413.1LBR, C4BPA, HLA-B, HP, MMP3, TTR
31cysteine449.9LBR, ITGA2B, CD40LG, HP, MMP3, TTR
32testosterone44 59 11 2412.6LBR, HLA-B, CD40LG, HP, TTR

GO Terms for genes affiliated with Takayasu's Arteritis

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Sources:
16Gene Ontology
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Cellular components related to Takayasu's Arteritis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1interleukin-12 complexGO:04351410.0IL12B, IL12A
2integral to plasma membraneGO:0058879.9CD40LG, MICA, ITGA2B, HLA-B, TNFSF4, TNFSF8
3extracellular spaceGO:0056159.2CFHR1, TNFSF8, TNFSF4, TNFSF9, MICA, CD40LG

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of tyrosine phosphorylation of Stat4 proteinGO:04252010.6IL12A, IL12B
2positive regulation of NK T cell activationGO:05113510.5IL12B, IL12A
3positive regulation of T cell mediated cytotoxicityGO:00191610.5HLA-B, IL12B, IL12A
4positive regulation of memory T cell differentiationGO:04338210.5TNFSF4, IL12B
5negative regulation of interleukin-17 productionGO:03270010.5IL12A, IL12B, TNFSF4
6positive regulation of lymphocyte proliferationGO:05067110.5IL12B, IL12A
7positive regulation of interferon-gamma productionGO:03272910.5TNFSF4, IL12B, IL12A
8positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell targetGO:00286010.5IL12B, IL12A
9positive regulation of interleukin-12 productionGO:03273510.5IL12B, CD40LG, TNFSF4
10defense response to Gram-positive bacteriumGO:05083010.5IL12A, MYD88, TNFSF8
11positive regulation of natural killer cell activationGO:03281610.5IL12A, IL12B
12positive regulation of smooth muscle cell apoptotic processGO:03439310.4IL12A, IL12B
13response to UV-BGO:01022410.4IL12B, IL12A
14positive regulation of interleukin-17 productionGO:03274010.3IL12B, MYD88
15defense response to protozoanGO:04283210.2IL12B, IL12A
16immune responseGO:00695510.1IL12A, HLA-B, TNFSF9, TNFSF8
17positive regulation of interleukin-10 productionGO:03273310.0TNFSF4, IL12B

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

idNameGO IDScoreTop Affiliating Genes
1receptor bindingGO:00510210.1HLA-B, TNFSF9, TNFSF4, TNFSF8
2interleukin-12 receptor bindingGO:00514310.0IL12A, IL12B
3tumor necrosis factor receptor bindingGO:0051649.9TNFSF8, TNFSF4, TNFSF9, CD40LG
4cytokine activityGO:0051259.8IL12A, IL12B, CD40LG, TNFSF9, TNFSF4, 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet