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 aortic root dilatation/dilation/aneurysm, arterial aneurism (excluding aorta) 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, 48Orphanet, 46OMIM, 60UMLS, 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)
  • aortic root dilatation/dilation/aneurysm
  • arterial aneurism (excluding aorta)
  • 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
  • asthma/bronchospasm
  • acute arterial hypertension/hypertensive crisis
  • 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:
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, Skin, T cells, Bone, Endothelial, Kidney, Testes, Spinal cord

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
FDG-PET of Takayasu's Arteritis. (24408276)
2014
2
Takayasu's arteritis and its role in causing renal artery stenosis. (23462245)
2013
3
Tumour necrosis factor (TNF)-I+-308 gene polymorphism in Indian patients with Takayasu's arteritis - a pilot study. (23703343)
2013
4
An unusual presentation of Takayasu's arteritis in two Mexican siblings. (24252026)
2013
5
Self-reactivity against stress-induced cell molecules: the missing link between Takayasu's arteritis and tuberculosis? (22285197)
2012
6
Potential biomarkers for disease activity in Takayasu's arteritis. (22608269)
2012
7
Three Presentations of Takayasu's Arteritis in Hispanic Patients. (23251184)
2012
8
Heart transplantation following myocardial infarction due to Takayasu's arteritis. (22118423)
2012
9
PDCD1 polymorphisms are not associated with Takayasu's arteritis in Turkey. (22274654)
2012
10
The role of noninvasive imaging in early diagnosis of clinically masked prepulseless inflammatory phase of Takayasu's Arteritis. (22098565)
2012
11
Total Occlusion of Right Main Pulmonary Artery in a Patient with Takayasu's Arteritis and Severe Pulmonary Hypertension. (23346288)
2012
12
Takayasu's arteritis: dual-source computed tomography findings and surgical treatment. (22295318)
2011
13
Stenting of the Left Main Coronary Artery in a Patient With Takayasu's Arteritis. (21359067)
2011
14
Stroke as a manifestation of Takayasu's arteritis likely due to distal carotid stump embolism. (20371961)
2010
15
Takayasu's arteritis in pregnancy complicated by peripartum aortic dissection. (20020151)
2010
16
Clinical and radiological features of Takayasu's arteritis patients in Jordan. (19862530)
2010
17
Takayasu's arteritis with associated aortic insufficiency and coronary ostial obliteration. (20536628)
2010
18
An unusual clinical manifestation of Takayasu's arteritis: spinal cord compression. (19070527)
2009
19
Takayasu's arteritis associated with Crohn's disease: a case report and literature review. (21686781)
2009
20
The "Macaroni Sign" of Takayasu's arteritis. (19738209)
2009
21
Longitudinal study of 16 patients with Takayasu's arteritis: clinical features and therapeutic management. (18797980)
2009
22
A case of Takayasu's arteritis and aortic regurgitation, which presented much difficulty in the diagnosing process because of complicated osteomyelitis and non-typical manifestations. (19632536)
2009
23
A case of fever of unknown origin: (18)F-FDG-PET/CT findings in Takayasu's arteritis. (19081862)
2008
24
Bilateral common carotid artery aneurysm in Takayasu's arteritis. (18381885)
2008
25
Quality of life of patients with Takayasu's arteritis. (18178464)
2008
26
Takayasu's arteritis with ostial and left main coronary artery stenosis. (18172534)
2007
27
Wegener's granulomatosis overlapping with Takayasu's arteritis revealed by FDG-PET scan. (17338969)
2007
28
Patent carotid arteries with nearly occluded aortic arch in Takayasu's arteritis demonstrated by multidetector-row computed tomography. (17367881)
2007
29
Takayasu's arteritis in a young Caucasian female: case report and review. (17672182)
2007
30
Takayasu's arteritis: An update on physiopathology. (16762772)
2006
31
Takayasu's arteritis and ulcerative colitis in a young non-Asian woman: a rare association. (16363285)
2005
32
Non-invasive imaging in the diagnosis and management of Takayasu's arteritis. (15249328)
2004
33
A 16-year survey of Takayasu's arteritis in a tertiary Belgian center. (15153827)
2003
34
Association of Takayasu's arteritis and Crohn's disease. Results of a study on 44 Takayasu patients and review of the literature. (12746644)
2003
35
PTFE patching to prevent anastomotic aneurysm formation in Takayasu's arteritis. (12713791)
2003
36
Takayasu's arteritis with arteriographic evidence of intracranial vessel involvement. (12743255)
2003
37
Surgical treatment of aortic coarctation associated with multi-vessel brachiocephalic involvement in takayasu's arteritis. (12875645)
2003
38
Renal transplantation for Takayasu's Arteritis: a case report. (14612041)
2003
39
Microembolus detection in patients with Takayasu's arteritis. (11872893)
2002
40
Hypertension is not a disease of the left arm: a difficult diagnosis of hypertension in Takayasu's arteritis. (11494097)
2001
41
Extracranial carotid aneurysm in Takayasu's arteritis. (11668332)
2001
42
Takayasu's arteritis and Crohn's disease: an unusual association. Report on two cases. (11572576)
2001
43
The role of B-mode ultrasonography and electron beam computed tomography in evaluation of Takayasu's arteritis: a study of 43 patients. (10966210)
2000
44
Takayasu's arteritis : spiral CT angiography findings. (10645933)
2000
45
Mapping of the HLA-linked genes controlling the susceptibility to Takayasu's arteritis. (10980346)
2000
46
Primary aortoduodenal fistula treated successfully with surgery in a patient with Takayasu's arteritis. (10688426)
1999
47
Takayasu's arteritis and fibromuscular dysplasia as causes of acquired atypical coarctation of the aorta: retrospective analysis of seven cases. (10901482)
1999
48
Takayasu's arteritis associated with factor V Leiden. (10072118)
1999
49
Pyoderma gangrenosum associated with Takayasu's arteritis responding to cyclosporin. (10468813)
1999
50
Management of renal hypertension in children with Takayasu's arteritis using renal autografting or allograft transplantation in selected circumstances and total lymphoid irradiation. (1353525)
1992

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
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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:
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
  • Lysates
  • 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