MCID: ART031
MIFTS: 62

Aortic Coarctation malady

Rare diseases, Cardiovascular diseases, Fetal diseases categories
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Summaries for Aortic Coarctation

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65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 Coarctation of the aorta, or aortic narrowing (abbreviated as CoA), is a congenital condition whereby... more...

MalaCards: Aortic Coarctation, also known as aorta coarctation, is related to hypertension and ischemia. An important gene associated with Aortic Coarctation is ADRB1 (adrenoceptor beta 1), and among its related pathways are Monoamine GPCRs and Sympathetic Nerve Pathway (Neuroeffector Junction). The compounds bucindolol and aliskiren have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and brain, and related mouse phenotypes are adipose tissue and skeleton.

Description from OMIM:47 120000

Aliases & Classifications for Aortic Coarctation

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Sources:
43NIH Rare Diseases, 49Orphanet, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases
Anatomical: Cardiovascular diseases


Characteristics (Orphanet epidemiological data):

49
aorta coarctation:
Age of onset: Neonatal/infancy


Aliases & Descriptions:

aortic coarctation 43
aorta coarctation 49 47
coarctation of the aorta 43


External Ids:

MESH via Orphanet36 D001017, C531623
ICD10 via Orphanet26 Q25.1
SNOMED-CT via Orphanet59 7305005
UMLS via Orphanet63 C0003492
OMIM47 120000
ICD1025 Q25.1

Related Diseases for Aortic Coarctation

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Aortic Coarctation via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 238)
idRelated DiseaseScoreTop Affiliating Genes
1hypertension30.9AGTR1, AGT, NOS3, ACE, ADRB2, ADRB1
2ischemia30.3AGT, NOS3, ADRB2, EDN1
3congenital heart disease30.3ADRB1, ADRB2, ACE, AGTR1
4obesity30.2GNB3, ADRB1, ADRB2, NOS3, AGT
5renovascular hypertension30.2ACE, AGTR1
6coronary artery disease30.2AGT, NOS3, ACE, ADRB2, ADRB1, EDN1
7noonan syndrome30.2EDN1, ADRB1, ADRB2, ACE, AGT, AGTR1
8atherosclerosis29.9EDN1, FBN1, GNB3, ADRB2, ACE, NOS3
9dilated cardiomyopathy29.9EDN1, CYP11B2, FBN1, ADRB1, ADRB2, ACE
10acute myocardial infarction29.9EDN1, ADRB1, ADRB2, ACE, AGT, AGTR1
11pre-eclampsia29.9EDN1, CYP11B2, ADRB2, NOS3, AGT, AGTR1
12myocardial infarction29.7ADRB2, ADRB1, GNB3, CYP11B2, EDN1, ACE
13aneurysm10.9
14ventricular septal defect10.6
15aortic aneurysm10.6
16cerebritis10.6
17patent ductus arteriosus10.5
18pulmonic stenosis10.5
19left ventricular outflow tract obstruction10.5
20dextrocardia10.5
21tetralogy of fallot10.5
22subacute bacterial endocarditis10.5
23atrioventricular septal defect10.5
24pulmonary valve stenosis10.5
25aortic arch interruption10.5
26supravalvular aortic stenosis10.4
27renal agenesis10.4
28aplasia cutis congenita10.4
29congenital mitral stenosis10.4
30takayasu's arteritis10.3
31thoracic aortic aneurysm10.3
32artery disease10.3
33endocarditis10.3
34phace syndrome10.3
35transposition of the great arteries10.3
36intracranial aneurysm10.2
37klippel-feil syndrome10.2
38aortic valve stenosis10.2
39cervicitis10.2
40turner syndrome10.2
41kabuki syndrome10.2
42alveolar capillary dysplasia10.2
43congenitally corrected transposition of the great arteries10.2
44fibromuscular dysplasia10.2
45heterotaxy10.2
46endotheliitis10.2
47right aortic arch10.2
48factor v deficiency10.2
49factor vii deficiency10.2
50alagille syndrome10.2

Graphical network of the top 20 diseases related to Aortic Coarctation:



Diseases related to aortic coarctation

Symptoms for Aortic Coarctation

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47OMIM
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Symptoms by clinical synopsis from OMIM:

120000

Clinical features from OMIM:

120000

Drugs & Therapeutics for Aortic Coarctation

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Aortic Coarctation

Search NIH Clinical Center for Aortic Coarctation

Genetic Tests for Aortic Coarctation

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Anatomical Context for Aortic Coarctation

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33MalaCards
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MalaCards organs/tissues related to Aortic Coarctation:

33
Heart, Kidney, Brain, Spinal cord, Endothelial, Testes, Pancreas

Animal Models for Aortic Coarctation or affiliated genes

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Sources:
37MGI
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Publications for Aortic Coarctation

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52PubMed
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Articles related to Aortic Coarctation:

(show top 50)    (show all 504)
idTitleAuthorsYear
1
Transcatheter aortic valve implantation in aortic coarctation. (22215496)
2013
2
Continuous cerebral and myocardial perfusion during one-stage repair for aortic coarctation with ventricular septal defect. (23132178)
2013
3
Echo rounds: transesophageal echocardiographic imagings of endovascular stent placement for the treatment of aortic coarctation with bicuspid aortic valve. (23835451)
2013
4
Aortic coarctation and coronary artery disease: the XY factor. (22675159)
2012
5
Different transcatheter strategies for aortic coarctation associated with patent ductus arteriosus. (22929832)
2012
6
Surgical versus percutaneous treatment of aortic coarctation: new standards in an era of transcatheter repair. (23253276)
2012
7
Neurohormonal activity and vascular properties late after aortic coarctation repair. (21429604)
2012
8
Delayed onset of anterior spinal artery syndrome after repair of aortic coarctation. (22858787)
2012
9
Staged hybrid treatment of complex ascending aortic and distal aortic arch pseudoaneurysm after repair of aortic coarctation. (18948867)
2011
10
Prevalence of associated cardiovascular abnormalities in 500 patients with aortic coarctation referred for cardiovascular magnetic resonance imaging to a tertiary center. (21512788)
2011
11
Therapy refractory hypertension in adults: aortic coarctation has to be ruled out. (21475399)
2011
12
Aortic coarctation in the presence of capillary hemangioma. (21764546)
2011
13
External aortic diameter ratios: a reliable method to diagnose preductal aortic coarctation. (21609160)
2011
14
Redo sternotomy for extra-anatomical correction of aortic coarctation and mitral repair in an adult after failed endovascular treatment. (21780060)
2011
15
Surgical treatment for aortic coarctation with chronic type B dissection: report of a case. (23555479)
2011
16
Atypical chest pain and hemoptysis 27 years after aortic coarctation surgery: aortobronchial fistula, management and endovascular treatment. (21489674)
2011
17
Contribution of nitric oxide synthase (NOS) activity in blood-brain barrier disruption and edema after acute ischemia/reperfusion in aortic coarctation-induced hypertensive rats. (21725496)
2011
18
Interrupted aortic arch and aortic coarctation: two similar entities. (20200652)
2010
19
Isolated aortic coarctation: experience in 100 consecutive patients. (20391897)
2010
20
Correction of aortic coarctation with interposition of a tube in a 12 years-old child. (21340394)
2010
21
Polysplenia/heterotaxy syndrome associated with aortic coarctation and multiple venous anomalies: multidetector computed tomography findings. (20484074)
2010
22
Technique of interventional repair in adult aortic coarctation. (20223618)
2010
23
Effectiveness and safety of balloon dilation of native aortic coarctation in premature neonates weighing < or = 2,500 grams. (20381673)
2010
24
Selective use of left heart bypass for aortic coarctation. (20172142)
2010
25
A case of asymptomatic high-grade aortic coarctation. (21687218)
2009
26
Repair of aortic coarctation in an adult by direct aortoplasty. (19917797)
2009
27
A late presentation of Dandy-Walker malformation and aortic coarctation. (20019621)
2009
28
Sudden onset of sharp left-sided chest pain and hemoptysis in a young man with a history of childhood aortic coarctation repair. (18834811)
2009
29
Complete tracheal duplication in an adult with thoracic aortic coarctation. (19465840)
2009
30
What is the preferred therapy for patients with aortic coarctation--the standard gamble and decision analysis versus real results? (18093361)
2008
31
Surgical treatment of aortic coarctation in adults: Beneficial effect on arterial hypertension. (19039758)
2008
32
Mitral valve replacement with the beating heart technique in a patient with previous bypass graft from ascending to descending aorta due to aortic coarctation. (18304132)
2008
33
Anomalous unilateral pulmonary vein in a patient with aortic coarctation. (19083961)
2008
34
Moyamoya disease and aortic coarctation in a patient with common brachiocephalic trunk. (17347086)
2007
35
Aortic coarctation diagnosed by 64-slice computed tomography angiography. (17980292)
2007
36
Endovascular treatment of aortic coarctation in an adult with isthmic hypoplasia. (17484542)
2007
37
Reversibility of changes in hepatic vessels after correction of experimental aortic coarctation. (17152376)
2006
38
Right aortic coarctation and ventricular septal defect: an unusual cause of tracheal compression in infancy. (18377543)
2006
39
Effects of aortic coarctation on aortic antioxidant enzymes and NADPH oxidase protein expression. (15589970)
2005
40
Images in cardiology. Collateral circulation in aortic coarctation shown by 64 channel multislice computed tomography angiography. (16230439)
2005
41
Aortic coarctation endarteritis in an adult: case report with cardiovascular magnetic resonance imaging findings and review of the literature. (15712067)
2005
42
Endovascular stenting for aortic coarctation. (16181033)
2005
43
Hypertension induced by aortic coarctation above the renal arteries is associated with immune cell infiltration of the kidneys. (16280280)
2005
44
Usefulness of MRI in the follow-up of patients with repaired aortic coarctation and bicuspid aortic valve. (16098395)
2005
45
Asymptomatic aortic coarctation associated with loss of luminal continuity and intercostal artery aneurysm. (15041948)
2004
46
Percutaneous balloon dilatation of mitral valve stenosis and aortic coarctation. (12454343)
2002
47
An unusual type of combined aortic coarctation due to fibromuscular dysplasia. (10386705)
1999
48
Aortic coarctation, multiple ventricular septal defects, and anomalous coronary artery arising from the right pulmonary artery. (9451072)
1998
49
Functional aortic coarctation caused by thrombosis within a thoracic aortic aneurysm. (1572887)
1992
50
Scimitar syndrome associated with patent ductus arteriosus, aortic coarctation and irreversible pulmonary hypertension. (4236474)
1968

Variations for Aortic Coarctation

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Expression for genes affiliated with Aortic Coarctation

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Aortic Coarctation

Search GEO for disease gene expression data for Aortic Coarctation.

Pathways for genes affiliated with Aortic Coarctation

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Sources:
50PathCards, 38NCBI BioSystems Database, 55Reactome, 51PharmGKB, 53QIAGEN, 5Cell Signaling Technology, 60Thomson Reuters, 30KEGG
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Pathways related to Aortic Coarctation according to GeneCards/GeneDecks:

(show all 26)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8ADRB2, ADRB1
29.8ADRB2, ADRB1
39.6AGTR1, ADRB2
49.5GNB3, ADRB1, ADRB2
5
Show member pathways
9.5GNB3, ADRB1, ADRB2
69.5ADRB2, ADRB1, GNB3
7
Show member pathways
9.5GNB3, ADRB1, ADRB2
89.5GNB3, ADRB1, ADRB2
9
Show member pathways
Development Beta adrenergic receptors regulation of ERK60
G protein signaling G Protein alpha s signaling cascades60
G protein signaling G Protein beta gamma signaling cascades60
9.5ADRB2, ADRB1, GNB3
109.5ADRB1, ADRB2, GRK4
119.4AGT, EDN1
129.4AGTR1, ADRB2, ADRB1
13
Show member pathways
9.3GNB3, ADRB2, AGTR1
14
Show member pathways
9.2AGT, ACE, GNB3
159.0NOS3, EDN1
16
Show member pathways
8.8GNB3, ACE, AGT, AGTR1
178.7EDN1, ADRB1, NOS3
18
Show member pathways
8.7GNB3, ADRB1, ADRB2, NOS3
19
Show member pathways
8.7EDN1, GNB3, AGT, AGTR1
208.5AGTR1, NOS3, ADRB2, ADRB1
21
Show member pathways
8.5AGT, ADRB2, ADRB1, GNB3, EDN1
22
Show member pathways
Calcium Regulation in the Cardiac Cell38
8.3GNB3, ADRB1, ADRB2, GRK4, NOS3
23
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
8.3EDN1, GNB3, NOS3, AGTR1
24
Show member pathways
8.0EDN1, GNB3, ADRB1, ADRB2, AGT, AGTR1
25
Show member pathways
8.0EDN1, GNB3, ADRB1, ADRB2, AGT, AGTR1
26
Show member pathways
8.0AGTR1, AGT, NOS3, ACE, CYP11B2

Compounds for genes affiliated with Aortic Coarctation

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Sources:
45Novoseek, 51PharmGKB, 11DrugBank, 29IUPHAR, 61Tocris Bioscience, 24HMDB
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Compounds related to Aortic Coarctation according to GeneCards/GeneDecks:

(show top 50)    (show all 180)
idCompoundScoreTop Affiliating Genes
1bucindolol45 5110.6ADRB1, ACE, ADRB2
2aliskiren45 1110.4AGT, ACE, AGTR1
3bisoprolol45 51 1111.4ACE, ADRB2, ADRB1
4saralasin459.3AGTR1, AGT, ACE
5eprosartan45 29 1111.2AGTR1, ACE, AGT
6lacidipine459.2AGTR1, EDN1, ACE
7beta blocking agents519.2NOS3, ACE, ADRB1
8pd12331945 2910.1ACE, AGT, AGTR1
9trandolapril45 1110.0EDN1, AGTR1, ACE
10hydralazine45 51 1111.0AGTR1, CYP11B2, ACE, EDN1
11eplerenone45 61 29 1111.9CYP11B2, ACE, AGTR1
12hydrochlorothiazide45 29 51 24 1112.9AGTR1, GNB3, ACE, CYP11B2, AGT
13chymostatin458.9ACE, AGT, EDN1, AGTR1
14benazepril45 51 1110.9AGT, ACE, ADRB2, CYP11B2, AGTR1
15valsartan45 61 29 1111.9AGT, ACE, EDN1, AGTR1
16diltiazem45 29 51 1111.8EDN1, ACE, AGT, AGTR1
17clonidine45 51 29 1111.8ADRB1, GNB3, AGTR1, NOS3
18cilazapril45 119.8EDN1, ACE, AGTR1
19captopril45 61 51 29 1112.7AGTR1, ACE, EDN1, AGT
20perindopril45 51 1110.6AGT, AGTR1, ACE, NOS3
21isoproterenol45 119.6AGT, ADRB2, ADRB1, EDN1, AGTR1
22amlodipine45 51 24 1111.6ACE, NOS3, AGT, AGTR1
23irbesartan45 29 51 1111.6AGTR1, AGT, ACE, CYP11B2, EDN1
24verapamil45 29 51 24 1112.6AGTR1, ACE, ADRB2, ADRB1, EDN1
25metoprolol45 51 29 24 1112.6ADRB1, NOS3, ADRB2, ACE, GRK4
26losartan45 51 29 1111.6AGTR1, AGT, CYP11B2, EDN1, ACE
27dopamine45 29 24 1111.6GNB3, AGTR1, AGT, GRK4, ADRB2, ADRB1
28sildenafil29 45 51 24 1112.5ACE, NOS3, GNB3, EDN1
29enalapril45 51 1110.5AGT, ACE, EDN1, AGTR1, ADRB2
30isosorbide dinitrate45 51 1110.5EDN1, ACE, NOS3
31nifedipine45 29 51 1111.5AGT, ACE, CYP11B2, EDN1, AGTR1
32l-nmma458.4EDN1, NOS3, AGT, AGTR1
33epinephrine45 24 1110.4EDN1, GNB3, ADRB2, AGTR1, ADRB1, AGT
34candesartan45 51 29 1111.4NOS3, AGT, AGTR1, ACE, CYP11B2
35nebivolol45 119.3NOS3, ACE, ADRB2, EDN1, ADRB1
36phenylephrine45 29 24 1111.3AGT, NOS3, ADRB1, EDN1, AGTR1
37potassium45 24 1110.2ADRB2, AGTR1, ACE, ADRB1, GNB3, CYP11B2
38nitroglycerin45 119.1GNB3, ACE, AGTR1, NOS3, EDN1
39glucose458.0ACE, AGT, CYP11B2, GNB3, AGTR1, ADRB2
40prostacyclin457.9EDN1, ACE, AGTR1, AGT, NOS3
41carvedilol45 51 29 1110.8AGTR1, ADRB1, ADRB2, ACE, NOS3, EDN1
42ang ii457.8CYP11B2, EDN1, ACE, NOS3, AGT, AGTR1
43lipid457.7CYP11B2, GNB3, AGT, ADRB1, ADRB2, AGTR1
44sodium45 248.6AGT, AGTR1, EDN1, GNB3, CYP11B2, ADRB1
45acetylcholine45 51 29 24 1111.6AGT, NOS3, ADRB2, EDN1, ACE, AGTR1
46atenolol45 51 29 24 1111.6GNB3, EDN1, CYP11B2, AGTR1, AGT, ACE
47norepinephrine45 24 119.6ACE, EDN1, AGT, CYP11B2, GNB3, ADRB1
48arginine457.1ADRB1, AGT, NOS3, AGTR1, EDN1, CYP11B2
49oxygen45 248.1EDN1, NOS3, CYP11B2, FBN1, AGT, ADRB1
50nitric oxide45 24 118.8AGTR1, EDN1, NOS3, ACE, ADRB2, ADRB1

GO Terms for genes affiliated with Aortic Coarctation

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Sources:
16Gene Ontology
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Biological processes related to Aortic Coarctation according to GeneCards/GeneDecks:

(show all 40)
idNameGO IDScoreTop Affiliating Genes
1heat generationGO:03164910.2ADRB1, ADRB2
2vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressureGO:00202510.2ADRB1, ADRB2
3negative regulation of smooth muscle contractionGO:04598610.2ADRB1, ADRB2
4diet induced thermogenesisGO:00202410.2ADRB1, ADRB2
5negative regulation of multicellular organism growthGO:04001510.1ADRB2, ADRB1
6positive regulation of NAD(P)H oxidase activityGO:03386410.0AGT, AGTR1
7regulation of blood vessel size by renin-angiotensinGO:00203410.0AGT, AGTR1
8regulation of calcium ion transportGO:05192410.0AGT, ADRB1
9regulation of renal sodium excretionGO:03581310.0AGT, AGTR1
10brown fat cell differentiationGO:05087310.0ADRB1, ADRB2
11renin-angiotensin regulation of aldosterone productionGO:00201810.0AGT, AGTR1
12activation of adenylate cyclase activityGO:00719010.0ADRB2, ADRB1
13positive regulation of cholesterol esterificationGO:01087310.0AGT, AGTR1
14regulation of renal output by angiotensinGO:00201910.0ACE, AGT
15low-density lipoprotein particle remodelingGO:0343749.9AGT, AGTR1
16positive regulation of cellular protein metabolic processGO:0322709.9AGT, AGTR1
17positive regulation of macrophage derived foam cell differentiationGO:0107449.9AGTR1, AGT
18regulation of systemic arterial blood pressure by renin-angiotensinGO:0030819.9ACE, AGTR1
19angiotensin maturationGO:0020039.8ACE, AGT
20response to coldGO:0094099.8ADRB1, ADRB2, AGT
21positive regulation of reactive oxygen species metabolic processGO:20003799.8AGTR1, AGT
22artery smooth muscle contractionGO:0148249.8AGT, EDN1
23positive regulation of cardiac muscle hypertrophyGO:0106139.8EDN1, AGT
24positive regulation of renal sodium excretionGO:0358159.7EDN1, AGT
25positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling paGO:0514829.7EDN1, AGTR1
26phospholipase C-activating G-protein coupled receptor signaling pathwayGO:0072009.7AGTR1, AGT
27regulation of sodium ion transportGO:0020289.6ADRB2, NOS3
28sensory perception of painGO:0192339.6ADRB1, EDN1
29positive regulation of endothelial cell migrationGO:0105959.6EDN1, AGT
30regulation of vasodilationGO:0423129.5ADRB2, ACE, AGTR1
31positive regulation of inflammatory responseGO:0507299.5AGT, AGTR1
32nitric oxide mediated signal transductionGO:0072639.5NOS3, AGT
33Rho protein signal transductionGO:0072669.4ADRB1, AGTR1
34regulation of systemic arterial blood pressure by endothelinGO:0031009.4EDN1, NOS3
35calcium-mediated signalingGO:0197229.4AGTR1, EDN1
36regulation of blood pressureGO:0082179.2NOS3, ACE, GNB3
37blood vessel remodelingGO:0019749.1AGT, NOS3, ACE
38G-protein coupled receptor signaling pathwayGO:0071869.0AGTR1, AGT, GNB3, EDN1
39kidney developmentGO:0018229.0AGTR1, AGT, ACE, FBN1
40regulation of vasoconstrictionGO:0192298.9AGTR1, AGT, ACE, EDN1

Molecular functions related to Aortic Coarctation according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1norepinephrine bindingGO:0513809.5ADRB2, ADRB1
2bradykinin receptor bindingGO:0317119.4AGTR1, ACE
3protein bindingGO:0055156.1FBN1, GNB3, ADRB1, ADRB2, ACE, NOS3

Products for genes affiliated with Aortic Coarctation

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Aortic Coarctation

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet