TA
MCID: TKY001
MIFTS: 68

Takayasu's Arteritis (TA) malady

Rare diseases, Cardiovascular diseases, Nephrological diseases, Bone diseases, Endocrine diseases categories
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Summaries for Takayasu's Arteritis

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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 based summary: Takayasu's Arteritis, also known as takayasu arteritis, is related to vasculitis and carotid stenosis, and has symptoms including hyperhidrosis/increased sweating, subcutaneous nodules/lipomas/tumefaction/swelling and cardiac valvulopathy. 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: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, 48Orphanet, 46OMIM, 62UMLS, 34MeSH, 57SNOMED-CT, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
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Takayasu's Arteritis, Aliases & Descriptions:

Name: Takayasu's Arteritis 8
Takayasu Arteritis 8 42 48 46 62
Young Female Arteritis 42 62
Aortic Arch Arteritis 8 62
Aortic Arch Syndrome 8 42
Idiopathic Aortitis 8 62
Thyroid Hormone Plasma Membrane Transport Defect 62
 
Takayasu's Disease Pulseless 8
Aortic Arch Syndromes 62
Aortic Arches Defect 42
Takayasu's Disease 8
Pulseless Disease 42
Takayasu Disease 42
Ta 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
takayasu arteritis:
Inheritance: Sporadic; Prevalence: 1-9/1000000; Age of onset: Adulthood


External Ids:

Disease Ontology8 DOID:2508
MeSH34 D001015
OMIM46 207600
NCIt39 C34391
MESH via Orphanet35 D013625
ICD10 via Orphanet26 M31.4
UMLS via Orphanet63 C0039263
ICD1025 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 118)
idRelated DiseaseScoreTop Affiliating Genes
1vasculitis31.0CD40LG, TNFSF4, HLA-B
2carotid stenosis30.9PON1
3ulcerative colitis30.6IL12B, MMP3, HLA-B
4antiphospholipid syndrome30.5PON1, CD40LG
5systemic lupus erythematosus29.1C4BPA, TNFSF4, PON1, MMP3, IL12B, PDCD1
6aneurysm10.6
7hypertension10.6
8aphthous stomatitis10.5HLA-B
9aortitis10.5
10renovascular hypertension10.5
11age related macular degeneration10.5CFHR1
12cerebritis10.4
13cerebral aneurysms10.4
14rubella10.4CD40LG
15periodontal disease10.4MMP3
16subclavian steal syndrome10.4
17polyarteritis nodosa10.4
18aortic aneurysm10.4
19colitis10.4
20fibromuscular dysplasia10.4
21common variable immunodeficiency10.3
22dilated cardiomyopathy10.3
23glomerulonephritis10.3
24thoracic aortic aneurysm10.3
25membranoproliferative glomerulonephritis10.3
26carotid artery dissection10.3
27malignant hypertension10.3
28purpura10.3
29thyroiditis10.3
30coronary artery aneurysm10.3
31cervical aortic arch10.3
32lyme disease10.3CFHR1, CD40LG
33behcet's disease10.3HLA-B, PON1
34cerebral amyloid angiopathy10.2PON1, TTR
35ankylosing spondylitis10.2CD40LG, MMP3, HLA-B
36encephalitis10.2IL12B, HLA-B
37digeorge syndrome10.2
38focal segmental glomerulosclerosis10.1
39ischemic optic neuropathy10.1
40pulmonary hypertension10.1
41thrombocytosis10.1
42acute interstitial pneumonia10.1
43abdominal aortic aneurysm10.1
44supravalvular aortic stenosis10.1
45polymyalgia rheumatica10.1
46carotid artery occlusion10.1
47moyamoya disease10.1
48bronchiectasis10.1
49erythrokeratodermia variabilis10.1
50blau syndrome10.1

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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Symptoms by clinical synopsis from OMIM:

207600

Clinical features from OMIM:

207600

Symptoms:

48 (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-RT40:

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:

32
Heart, Thyroid, Skin, T cells, 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:

36
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 528)
idTitleAuthorsYear
1
Case images: Takayasu's arteritis with left main stem stenosis of single coronary artery. (24643159)
2014
2
Takayasu's Arteritis and Crohn's Disease in a Young Hispanic Female. (25152825)
2014
3
A Case of Membranous Glomerulonephropathy Associated with Takayasu's Arteritis. (24847348)
2014
4
Takayasu's arteritis and an elevated antistreptolysin O titre - a potentially expensive diagnostic conundrum. (25057401)
2014
5
Aortic regurgitation in Takayasu's arteritis. (25288778)
2014
6
Impaired endothelial function in patients with Takayasu's arteritis. (24640521)
2014
7
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
8
Intra-muscular arteries are also affected in Takayasu's arteritis. (23011087)
2013
9
Two cases of Takayasu's arteritis occurring under anti-TNF therapy. (22999907)
2013
10
MMP-9 and IL-6 are potential biomarkers for disease activity in Takayasu's arteritis. (22330005)
2012
11
Self-reactivity against stress-induced cell molecules: the missing link between Takayasu's arteritis and tuberculosis? (22285197)
2012
12
Proteus Takayasu's arteritis with unusual intracranial granulomatosis as initial manifestation. (20354858)
2012
13
Potential biomarkers for disease activity in Takayasu's arteritis. (22608269)
2012
14
Takayasu's arteritis in children and adolescents: report of three cases. (21953004)
2011
15
Pathogenesis of Takayasu's arteritis: a 2011 update. (21855656)
2011
16
Mycophenolate mofetil in Takayasu's arteritis. (20054700)
2010
17
Stroke as a manifestation of Takayasu's arteritis likely due to distal carotid stump embolism. (20371961)
2010
18
A case of unusual presentation of Takayasu's arteritis. (20195040)
2010
19
Takayasu's arteritis in a patient with Crohn's disease: an unexpected association during infliximab therapy. (20075586)
2010
20
Medical image. Aortic aneurysm in a girl with Takayasu's arteritis. (21326409)
2010
21
Ulcerative colitis associated with Takayasu's arteritis in a child. (19432836)
2009
22
Takayasu's arteritis mimicking aortic intramural hematoma in a female patient with chest pain. (18935716)
2008
23
Aortic aneurysm in Takayasu's arteritis. (17985414)
2007
24
Bilateral ocular ischemic syndrome as an initial manifestation of Takayasu's arteritis associated with carotid steal syndrome. (16944156)
2007
25
Takayasu's arteritis: an Indian perspective. (17383909)
2007
26
Interleukin (IL)-12, IL-2, and IL-6 gene polymorphisms in Takayasu's arteritis from Turkey. (17002904)
2006
27
Post-interventional immunosuppressive treatment and vascular restenosis in Takayasu's arteritis. (16352637)
2006
28
Unprotected left main stent placement in a patient with Takayasu's arteritis: an unusual solution for an unusual disease. (16878640)
2006
29
Surgical management of Takayasu's arteritis. (16479059)
2006
30
Takayasu's arteritis with aortic aneurysm associated with Sweet's syndrome in childhood. (15608327)
2005
31
Takayasu's arteritis and ulcerative colitis in a young non-Asian woman: a rare association. (16363285)
2005
32
Evaluation of cerebral hypoperfusion by nuclear medicine imaging in a patient with Takayasu's arteritis. (16228810)
2005
33
Refractory Takayasu's arteritis successfully treated with the human, monoclonal anti-tumor necrosis factor antibody adalimumab. (16158044)
2005
34
Intravascular ultrasound and fractional flow reserve of equivocal left main stenosis in patients with Takayasu's arteritis: impact on surgical decision-making. (15937934)
2005
35
Interleukin-8 in Takayasu's arteritis: plasma levels and relationship with disease activity. (15675131)
2004
36
Ascending aorta-abdominal aorta bypass for Takayasu's arteritis. (14681103)
2003
37
Horner's syndrome as an initial manifestation of Takayasu's arteritis. (12810438)
2003
38
Takayasu's arteritis with multiple fistulas from three coronary arteries to lung paranchima. (12714218)
2003
39
A 16-year survey of Takayasu's arteritis in a tertiary Belgian center. (15153827)
2003
40
Takayasu's arteritis presenting as ischemic stroke--case report. (12481637)
2002
41
Small vessel vasculitis in Takayasu's arteritis. (17041413)
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
Takayasu's arteritis and tuberculosis: a case report. (11147763)
2000
46
Neurosurgical and neuroendovascular management of Takayasu's arteritis. (10764257)
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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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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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 acid4410.2HLA-B, IL12B
2polyinosinic-polycytidylic acid4410.0HLA-B, IL12B
3lycopene44 2410.8PON1, TTR
4pneumococcal449.8CD40LG, HLA-B
5polyacrylamide449.7IL12B, TTR, HLA-B
6il-12449.7CD40LG, IL12B
7stresson449.6CD40LG, TTR
8endotoxin449.5HLA-B, IL12B, CD40LG
9phosphorylcholine44 2410.5C4BPA, CD40LG
10sulfasalazine28 44 50 1112.5MMP3, IL12B, CD40LG
11vitamin d449.5IL12B, MMP3, TTR
12clopidogrel44 50 24 1112.4CD40LG, PON1
13glutaraldehyde449.4CD40LG, TTR
14methionine449.4MMP3, PON1, TTR
15mycophenolate mofetil44 50 1111.3CD40LG, IL12A
16cardiolipin44 1110.3C4BPA, CD40LG
17ursodeoxycholic acid44 24 1111.3CD40LG, HLA-B
18pravastatin44 50 28 24 1113.3PON1, MMP3, CD40LG
19carbohydrates449.3HLA-B, TTR, CD40LG
20rantes449.2HLA-B, MMP3, IL12B, CD40LG
21pge2449.2HLA-B, MMP3, IL12B, CD40LG
22hyaluronic acid44 2410.1CD40LG, MMP3, TTR
23polysaccharide449.1HLA-B, PON1, CD40LG
24vitamin b12449.1CD40LG, PON1, TTR
25thyroxine44 2410.0CD40LG, PON1, TTR
26folate449.0TTR, PON1, CD40LG
27vitamin a44 24 1111.0CD40LG, PON1, TTR
28glucose449.0MLX, HLA-B, TTR, PON1, MMP3
29aspirin44 50 28 2412.0TTR, PON1, CD40LG
30paraffin448.9CD40LG, MMP3, TTR, HLA-B
31cyclosporin a44 28 6110.9CD40LG, MMP3, TTR, HLA-B
32dexamethasone44 50 28 1111.8HLA-B, TTR, MMP3, CD40LG
33cholesterol44 28 24 1111.8C4BPA, MMP3, PON1, TTR, HLA-B
34testosterone44 61 24 1111.7HLA-B, TTR, PON1, CD40LG
35ascorbic acid44 249.7TTR, PON1, MMP3, CD40LG
36arginine448.7CD40LG, PON1, TTR, HLA-B
37acetylcholine44 50 28 24 1112.6PON1, MMP3, CD40LG
38creatinine448.5HLA-B, TTR, PON1, MMP3, CD40LG
39heparin44 28 24 1111.5C4BPA, CD40LG, MMP3, PON1, CFHR1
40lactate448.4HLA-B, TTR, MMP3, CD40LG, C4BPA
41fibrinogen448.3C4BPA, CD40LG, PON1, TTR, HLA-B
42alanine448.3TTR, PON1, MMP3, CD40LG
43serine447.9HLA-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: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:04252010.2IL12A, IL12B
2positive regulation of NK T cell activationGO:05113510.2IL12B, IL12A
3positive regulation of lymphocyte proliferationGO:05067110.2IL12A, IL12B
4positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell targetGO:00286010.2IL12A, IL12B
5positive regulation of smooth muscle cell apoptotic processGO:03439310.1IL12A, IL12B
6positive regulation of natural killer cell activationGO:03281610.1IL12A, IL12B
7positive regulation of memory T cell differentiationGO:04338210.1TNFSF4, IL12B
8response to UV-BGO:01022410.1IL12A, IL12B
9defense response to protozoanGO:04283210.1IL12B, IL12A
10positive regulation of interleukin-10 productionGO:03273310.0IL12B, TNFSF4
11positive regulation of T cell mediated cytotoxicityGO:00191610.0IL12B, IL12A, HLA-B
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:0327009.9IL12B, IL12A, TNFSF4
15positive regulation of inflammatory responseGO:0507299.8IL12B, TNFSF4
16positive regulation of interferon-gamma productionGO:0327299.8IL12B, IL12A, TNFSF4
17positive regulation of cell adhesionGO:0457859.8IL12A, IL12B
18defense response to Gram-positive bacteriumGO:0508309.7IL12A, TNFSF8
19positive regulation of T cell proliferationGO:0421029.6IL12B, IL12A
20positive regulation of interleukin-12 productionGO:0327359.3TNFSF4, IL12B, CD40LG
21immune responseGO:0069559.3IL12A, TNFSF4, TNFSF8, HLA-B

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

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

Products for genes affiliated with Takayasu's Arteritis

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  • Antibodies
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet