MCID: TKY001
MIFTS: 69

Takayasu's Arteritis 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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NIH Rare Diseases:43 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 based summary: Takayasu's Arteritis, also known as takayasu arteritis, is related to vasculitis and ulcerative colitis, and has symptoms including abnormality of the aorta, hyperhidrosis and weight loss. 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 skin, and related mouse phenotypes are homeostasis/metabolism and hematopoietic system.

Disease Ontology:10 A syndrome that involves inflammation of the aorta that carries blood from the heart to the rest of the body.

Aliases & Classifications for Takayasu's Arteritis

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Sources:
10Disease Ontology, 43NIH Rare Diseases, 49Orphanet, 62UMLS, 57SNOMED-CT, 40NCIt, 35MeSH, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet, 27ICD10
See all sources

Takayasu's Arteritis, Aliases & Descriptions:

Name: Takayasu's Arteritis 10
Takayasu Arteritis 10 43 49 62
Young Female Arteritis 43 62
Aortic Arch Arteritis 10 62
Aortic Arch Syndrome 10 43
Idiopathic Aortitis 10 62
Right Aortic Arch 43 49
Thyroid Hormone Plasma Membrane Transport Defect 62
 
Takayasu's Disease Pulseless 10
Aortic Arch Syndromes 62
Aortic Arches Defect 43
Takayasu's Disease 10
Pulseless Disease 43
Takayasu Disease 43
Ta 43


Classifications:



Characteristics (Orphanet epidemiological data):

49
takayasu arteritis:
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adult


External Ids:

Disease Ontology10 DOID:2508
NCIt40 C34391
MeSH35 D001015
Orphanet49 3287, 99081
MESH via Orphanet36 D013625
ICD10 via Orphanet28 M31.4, Q25.4
UMLS via Orphanet63 C0039263, C0035615
ICD1027 M31.4

Related Diseases for Takayasu's Arteritis

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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 153)
idRelated DiseaseScoreTop Affiliating Genes
1vasculitis30.8CD40LG, TNFSF4, HLA-B
2ulcerative colitis30.6IL12B, MMP3, HLA-B
3congenital heart disease30.5MLX, MMP3, CD40LG
4hepatitis30.3HLA-B, TTR, CD40LG
5carotid stenosis30.3PON1
6antiphospholipid syndrome30.2PON1, CD40LG
7hashimoto thyroiditis30.2IL12B, HLA-B
8systemic lupus erythematosus30.1C4BPA, TNFSF4, PON1, MMP3, IL12B, PDCD1
9esophagitis10.9
10patent ductus arteriosus10.8
11tetralogy of fallot10.7
12esophageal cancer10.7
13kommerell diverticulum10.7
14lung cancer10.6
15aneurysm10.6
16esophageal atresia10.5
17dysphagia10.5
18renovascular hypertension10.5
19aortitis10.5
20hypoplastic left heart syndrome10.5
21transposition of the great arteries10.5
22cerebritis10.4
23cerebral aneurysms10.4
24mediastinitis10.4
25aberrant subclavian artery10.4
26tracheoesophageal fistula10.4
27truncus arteriosus10.4
28wegener granulomatosis10.4
29polyarteritis nodosa10.4
30subclavian steal syndrome10.4
31aortic aneurysm10.4
32colitis10.4
33fibromuscular dysplasia10.4
34isotretinoin embryopathy like syndrome10.4
35hemangioma10.4
36subclavian artery aneurysm10.4
37ventricular septal defect10.4
38aortic coarctation10.4
39dysphagia lusoria10.4
40common variable immunodeficiency10.3
41dilated cardiomyopathy10.3
42glomerulonephritis10.3
43membranoproliferative glomerulonephritis10.3
44carotid artery dissection10.3
45carotid artery occlusion10.3
46thoracic aortic aneurysm10.3
47malignant hypertension10.3
48purpura10.3
49thyroiditis10.3
50coronary artery aneurysm10.3

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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Symptoms:

 49 (show all 41)
  • hyperhidrosis/increased sweating
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • cardiac valvulopathy
  • acute arterial hypertension/hypertensive crisis
  • arterial stenosis/occlusion
  • arterial pulse abolition
  • arterial aneurism (excluding aorta)
  • vascularitis/vasculitides/arteritis
  • acute ischemic syndrome
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • fever/chilling
  • asthenia/fatigue/weakness
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • visual loss/blindness/amblyopia
  • chronic skin infection/ulcerations/ulcers/cancrum
  • thoracic/chest pain
  • respiratory rhythm disorder
  • pulmonary hypertension
  • aortic valve atresia/stenosis/narrowing/supra-aortic/supra-valvular stenosis
  • cardiomyopathy/hypertrophic/dilated
  • aortic root dilatation/dilation/aneurysm
  • angor pectoris/myocardial infarction
  • chronic arterial hypertension
  • gangrena/necrosis
  • facial pain/cephalalgia/migraine
  • seizures/epilepsy/absences/spasms/status epilepticus
  • anorexia
  • muscle weakness/flaccidity
  • myalgia/muscular pain
  • arthritis/synovitis/synovial proliferation
  • anaemia
  • biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp
  • retinopathy
  • transient amaurosis/acute visual trouble
  • hemoptysis
  • endocardium anomalies/fibroelastosis/endocarditis
  • mesenteric/intestinal infarction
  • transient cerebral ischemia/stroke
  • obnubilation/coma/lethargia/desorientation
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • articular/joint pain/arthralgia

HPO human phenotypes related to Takayasu's Arteritis:

(show all 39)
id Description Frequency HPO Source Accession
1 abnormality of the aorta hallmark (90%) HP:0001679
2 hyperhidrosis hallmark (90%) HP:0000975
3 weight loss hallmark (90%) HP:0001824
4 aneurysm hallmark (90%) HP:0002617
5 vasculitis hallmark (90%) HP:0002633
6 abnormality of temperature regulation hallmark (90%) HP:0004370
7 hypertensive crisis hallmark (90%) HP:0100735
8 respiratory insufficiency typical (50%) HP:0002093
9 apnea typical (50%) HP:0002104
10 seizures typical (50%) HP:0001250
11 muscle weakness typical (50%) HP:0001324
12 arthritis typical (50%) HP:0001369
13 hypertrophic cardiomyopathy typical (50%) HP:0001639
14 abnormality of the aortic valve typical (50%) HP:0001646
15 coronary artery disease typical (50%) HP:0001677
16 anemia typical (50%) HP:0001903
17 anorexia typical (50%) HP:0002039
18 migraine typical (50%) HP:0002076
19 pulmonary hypertension typical (50%) HP:0002092
20 abnormal pattern of respiration typical (50%) HP:0002793
21 myalgia typical (50%) HP:0003326
22 dilatation of the ascending aorta typical (50%) HP:0005111
23 inflammatory abnormality of the eye typical (50%) HP:0100533
24 chest pain typical (50%) HP:0100749
25 gangrene typical (50%) HP:0100758
26 skin ulcer typical (50%) HP:0200042
27 asthma occasional (7.5%) HP:0002099
28 recurrent respiratory infections occasional (7.5%) HP:0002205
29 feeding difficulties in infancy occasional (7.5%) HP:0008872
30 retinopathy occasional (7.5%) HP:0000488
31 hemoptysis occasional (7.5%) HP:0002105
32 neurological speech impairment occasional (7.5%) HP:0002167
33 cerebral ischemia occasional (7.5%) HP:0002637
34 arthralgia occasional (7.5%) HP:0002829
35 abnormality of the endocardium occasional (7.5%) HP:0004306
36 reduced consciousness/confusion occasional (7.5%) HP:0004372
37 gastrointestinal infarctions occasional (7.5%) HP:0005244
38 amaurosis fugax occasional (7.5%) HP:0100576
39 arteritis HP:0012089

Drugs & Therapeutics for Takayasu's Arteritis

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Drug clinical trials:

Search ClinicalTrials for Takayasu's Arteritis

Search NIH Clinical Center for Takayasu's Arteritis

Inferred drug relations via UMLS62/NDF-RT41:

Genetic Tests for Takayasu's Arteritis

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Anatomical Context for Takayasu's Arteritis

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MalaCards organs/tissues related to Takayasu's Arteritis:

33
Heart, Thyroid, Skin, T cells, Eye, Bone, Lung, Endothelial, Kidney, Spinal cord, Testes

Animal Models for Takayasu's Arteritis or affiliated genes

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MGI Mouse Phenotypes related to Takayasu's Arteritis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.4TTR, PON1, MMP3, IL12A, IL12B, CD40LG
2MP:00053977.2HLA-B, TNFSF4, MMP3, IL12A, IL12B, PDCD1
3MP:00053877.0CD40LG, HLA-B, TNFSF8, TNFSF4, MMP3, IL12A

Publications for Takayasu's Arteritis

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Articles related to Takayasu's Arteritis:

(show top 50)    (show all 551)
idTitleAuthorsYear
1
Digital Gangrene an Unusual Presentation of Takayasu's Arteritis. (25789252)
2015
2
Angiographic profile and endovascular interventions in Takayasu's arteritis. (25589694)
2015
3
Case images: Takayasu's arteritis with left main stem stenosis of single coronary artery. (24643159)
2014
4
Takayasu's Arteritis and Crohn's Disease in a Young Hispanic Female. (25152825)
2014
5
A Case of Membranous Glomerulonephropathy Associated with Takayasu's Arteritis. (24847348)
2014
6
Takayasu's arteritis and an elevated antistreptolysin O titre - a potentially expensive diagnostic conundrum. (25057401)
2014
7
Aortic regurgitation in Takayasu's arteritis. (25288778)
2014
8
Impaired endothelial function in patients with Takayasu's arteritis. (24640521)
2014
9
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
10
Intra-muscular arteries are also affected in Takayasu's arteritis. (23011087)
2013
11
MMP-9 and IL-6 are potential biomarkers for disease activity in Takayasu's arteritis. (22330005)
2012
12
Self-reactivity against stress-induced cell molecules: the missing link between Takayasu's arteritis and tuberculosis? (22285197)
2012
13
Proteus Takayasu's arteritis with unusual intracranial granulomatosis as initial manifestation. (20354858)
2012
14
Potential biomarkers for disease activity in Takayasu's arteritis. (22608269)
2012
15
Takayasu's arteritis in children and adolescents: report of three cases. (21953004)
2011
16
Pathogenesis of Takayasu's arteritis: a 2011 update. (21855656)
2011
17
Mycophenolate mofetil in Takayasu's arteritis. (20054700)
2010
18
Stroke as a manifestation of Takayasu's arteritis likely due to distal carotid stump embolism. (20371961)
2010
19
A case of unusual presentation of Takayasu's arteritis. (20195040)
2010
20
Takayasu's arteritis in a patient with Crohn's disease: an unexpected association during infliximab therapy. (20075586)
2010
21
Medical image. Aortic aneurysm in a girl with Takayasu's arteritis. (21326409)
2010
22
Ulcerative colitis associated with Takayasu's arteritis in a child. (19432836)
2009
23
Takayasu's arteritis mimicking aortic intramural hematoma in a female patient with chest pain. (18935716)
2008
24
Aortic aneurysm in Takayasu's arteritis. (17985414)
2007
25
Bilateral ocular ischemic syndrome as an initial manifestation of Takayasu's arteritis associated with carotid steal syndrome. (16944156)
2007
26
Takayasu's arteritis: an Indian perspective. (17383909)
2007
27
Interleukin (IL)-12, IL-2, and IL-6 gene polymorphisms in Takayasu's arteritis from Turkey. (17002904)
2006
28
Post-interventional immunosuppressive treatment and vascular restenosis in Takayasu's arteritis. (16352637)
2006
29
Unprotected left main stent placement in a patient with Takayasu's arteritis: an unusual solution for an unusual disease. (16878640)
2006
30
Surgical management of Takayasu's arteritis. (16479059)
2006
31
Takayasu's arteritis with aortic aneurysm associated with Sweet's syndrome in childhood. (15608327)
2005
32
Takayasu's arteritis and ulcerative colitis in a young non-Asian woman: a rare association. (16363285)
2005
33
Evaluation of cerebral hypoperfusion by nuclear medicine imaging in a patient with Takayasu's arteritis. (16228810)
2005
34
Refractory Takayasu's arteritis successfully treated with the human, monoclonal anti-tumor necrosis factor antibody adalimumab. (16158044)
2005
35
Intravascular ultrasound and fractional flow reserve of equivocal left main stenosis in patients with Takayasu's arteritis: impact on surgical decision-making. (15937934)
2005
36
Interleukin-8 in Takayasu's arteritis: plasma levels and relationship with disease activity. (15675131)
2004
37
Ascending aorta-abdominal aorta bypass for Takayasu's arteritis. (14681103)
2003
38
Horner's syndrome as an initial manifestation of Takayasu's arteritis. (12810438)
2003
39
Takayasu's arteritis with multiple fistulas from three coronary arteries to lung paranchima. (12714218)
2003
40
A 16-year survey of Takayasu's arteritis in a tertiary Belgian center. (15153827)
2003
41
Aortic aneurysm and aortic regurgitation following aortic valve replacement due to Takayasu's arteritis. (11855100)
2002
42
Takayasu's arteritis presenting as ischemic stroke--case report. (12481637)
2002
43
Pulmonary Takayasu's arteritis masquerading as acute pulmonary embolism. (17039181)
2001
44
Takayasu's arteritis presenting with bilateral parenchymal consolidations and severe respiratory failure. (11786722)
2001
45
Complement and cell mediated cytotoxicity by antiendothelial cell antibodies in Takayasu's arteritis. (11327255)
2001
46
Takayasu's arteritis and tuberculosis: a case report. (11147763)
2000
47
Neurosurgical and neuroendovascular management of Takayasu's arteritis. (10764257)
2000
48
Takayasu's arteritis with transient clubbed finger. (10544853)
1999
49
Primary aortoduodenal fistula treated successfully with surgery in a patient with Takayasu's arteritis. (10688426)
1999
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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Search GEO for disease gene expression data for Takayasu's Arteritis.

Pathways for genes affiliated with Takayasu's Arteritis

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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
49.9IL12B, IL12A
5
Show member pathways
9.6IL12B, IL12A, HLA-B
6
Show member pathways
9.4IL12B, TNFSF4, TNFSF8
79.4C4BPA, IL12B, IL12A
89.3CD40LG, IL12A
99.1CD40LG, C4BPA
10
Show member pathways
9.1TNFSF8, TNFSF4, IL12A, IL12B
11
Show member pathways
9.1TNFSF8, TNFSF4, IL12A, IL12B
12
Show member pathways
9.1IL12A, IL12B, CD40LG
13
Show member pathways
Apoptosis and survival Anti apoptotic TNFs NF kB IAP pathway60
8.9CD40LG, TNFSF4, TNFSF8
14
Show member pathways
8.9CD40LG, TNFSF4, TNFSF8
15
Show member pathways
8.8HLA-B, IL12A, IL12B, CD40LG
168.8HLA-B, PDCD1, CD40LG
17
Show member pathways
8.3TNFSF8, TNFSF4, IL12A, IL12B, CD40LG

Compounds for genes affiliated with Takayasu's Arteritis

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Compounds related to Takayasu's Arteritis according to GeneCards/GeneDecks:

(show all 43)
idCompoundScoreTop Affiliating Genes
1lipoteichoic acid4510.2HLA-B, IL12B
2polyinosinic-polycytidylic acid4510.0HLA-B, IL12B
3lycopene45 2610.8PON1, TTR
4pneumococcal459.8CD40LG, HLA-B
5polyacrylamide459.7IL12B, TTR, HLA-B
6il-12459.7CD40LG, IL12B
7stresson459.6CD40LG, TTR
8endotoxin459.5HLA-B, IL12B, CD40LG
9phosphorylcholine45 2610.5C4BPA, CD40LG
10sulfasalazine30 45 51 1312.5MMP3, IL12B, CD40LG
11vitamin d459.5IL12B, MMP3, TTR
12clopidogrel45 51 26 1312.4CD40LG, PON1
13glutaraldehyde459.4CD40LG, TTR
14methionine459.4MMP3, PON1, TTR
15mycophenolate mofetil45 51 1311.3CD40LG, IL12A
16cardiolipin45 1310.3C4BPA, CD40LG
17ursodeoxycholic acid45 26 1311.3CD40LG, HLA-B
18pravastatin45 51 30 26 1313.3PON1, MMP3, CD40LG
19carbohydrates459.3HLA-B, TTR, CD40LG
20rantes459.2HLA-B, MMP3, IL12B, CD40LG
21pge2459.2HLA-B, MMP3, IL12B, CD40LG
22hyaluronic acid45 2610.1CD40LG, MMP3, TTR
23polysaccharide459.1HLA-B, PON1, CD40LG
24vitamin b12459.1CD40LG, PON1, TTR
25thyroxine45 2610.0CD40LG, PON1, TTR
26folate459.0TTR, PON1, CD40LG
27vitamin a45 26 1311.0CD40LG, PON1, TTR
28glucose459.0MLX, HLA-B, TTR, PON1, MMP3
29aspirin45 51 30 2612.0TTR, PON1, CD40LG
30paraffin458.9CD40LG, MMP3, TTR, HLA-B
31cyclosporin a45 30 6110.9CD40LG, MMP3, TTR, HLA-B
32dexamethasone45 51 30 1311.8HLA-B, TTR, MMP3, CD40LG
33cholesterol45 30 26 1311.8C4BPA, MMP3, PON1, TTR, HLA-B
34testosterone45 61 26 1311.7HLA-B, TTR, PON1, CD40LG
35ascorbic acid45 269.7TTR, PON1, MMP3, CD40LG
36arginine458.7CD40LG, PON1, TTR, HLA-B
37acetylcholine45 51 30 26 1312.6PON1, MMP3, CD40LG
38creatinine458.5HLA-B, TTR, PON1, MMP3, CD40LG
39heparin45 30 26 1311.5C4BPA, CD40LG, MMP3, PON1, CFHR1
40lactate458.4HLA-B, TTR, MMP3, CD40LG, C4BPA
41fibrinogen458.3C4BPA, CD40LG, PON1, TTR, HLA-B
42alanine458.3TTR, PON1, MMP3, CD40LG
43serine457.9HLA-B, TTR, PON1, MMP3, CD40LG, C4BPA

GO Terms for genes affiliated with Takayasu's Arteritis

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Cellular components related to Takayasu's Arteritis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1interleukin-12 complexGO:00435149.6IL12B, IL12A
2blood microparticleGO:00725629.2C4BPA, PON1, CFHR1
3extracellular spaceGO:00056156.6CD40LG, 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:004252010.2IL12A, IL12B
2positive regulation of NK T cell activationGO:005113510.2IL12B, IL12A
3positive regulation of lymphocyte proliferationGO:005067110.2IL12A, IL12B
4positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell targetGO:000286010.2IL12A, IL12B
5positive regulation of smooth muscle cell apoptotic processGO:003439310.1IL12A, IL12B
6positive regulation of natural killer cell activationGO:003281610.1IL12A, IL12B
7positive regulation of memory T cell differentiationGO:004338210.1TNFSF4, IL12B
8response to UV-BGO:001022410.1IL12A, IL12B
9defense response to protozoanGO:004283210.1IL12B, IL12A
10positive regulation of interleukin-10 productionGO:003273310.0IL12B, TNFSF4
11positive regulation of T cell mediated cytotoxicityGO:000191610.0IL12B, IL12A, HLA-B
12negative regulation of smooth muscle cell proliferationGO:004866210.0IL12B, IL12A
13positive regulation of activated T cell proliferationGO:00421049.9TNFSF4, IL12B
14negative regulation of interleukin-17 productionGO:00327009.9IL12B, IL12A, TNFSF4
15positive regulation of inflammatory responseGO:00507299.8IL12B, TNFSF4
16positive regulation of interferon-gamma productionGO:00327299.8IL12B, IL12A, TNFSF4
17positive regulation of cell adhesionGO:00457859.8IL12A, IL12B
18defense response to Gram-positive bacteriumGO:00508309.7IL12A, TNFSF8
19positive regulation of T cell proliferationGO:00421029.6IL12B, IL12A
20positive regulation of interleukin-12 productionGO:00327359.3TNFSF4, IL12B, CD40LG
21immune responseGO:00069559.3IL12A, TNFSF4, TNFSF8, HLA-B

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

idNameGO IDScoreTop Affiliating Genes
1interleukin-12 receptor bindingGO:00051439.8IL12A, IL12B
2receptor bindingGO:00051029.4TNFSF4, TNFSF8, HLA-B
3tumor necrosis factor receptor bindingGO:00051648.9CD40LG, TNFSF4, TNFSF8
4protein heterodimerization activityGO:00469828.8IL12B, IL12A, TTR, MLX
5cytokine activityGO:00051258.3CD40LG, IL12B, IL12A, TNFSF4, TNFSF8

Products for genes affiliated with Takayasu's Arteritis

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Sources for Takayasu's Arteritis

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet