MCID: CRN030
MIFTS: 53

Coronary Stenosis malady

Summaries for Coronary Stenosis

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MalaCards: Coronary Stenosis, also known as coronary artery stenosis, is related to myocardial infarction and acute myocardial infarction. An important gene associated with Coronary Stenosis is SOD3 (superoxide dismutase 3, extracellular), and among its related pathways are LDL-mediated lipid transport and PPAR signaling pathway. The compounds uric acid and alpha tocopherol have been mentioned in the context of this disorder. Affiliated tissues include heart, endothelial and testes, and related mouse phenotypes are liver/biliary system and hematopoietic system.

Aliases & Classifications for Coronary Stenosis

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8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS, 39NCIt, 34MeSH, 56SNOMED-CT
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Aliases & Descriptions:

coronary stenosis 8 10 44 60
coronary artery stenosis 8


External Ids:

Disease Ontology8 DOID:4248
NCIt39 C80427
SNOMED-CT56 233970002
MeSH34 D023921

Related Diseases for Coronary Stenosis

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17GeneCards, 18GeneDecks
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Diseases related to Coronary Stenosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 184)
idRelated DiseaseScoreTop Affiliating Genes
1myocardial infarction30.9ADIPOQ, ADAMTSL1, CETP, PECAM1, SELP, OLR1
2acute myocardial infarction30.8PECAM1, SELP, OLR1, FGA, PON1, ITGAL
3coronary artery disease30.8ADIPOQ, ADAMTSL1, CETP, PECAM1, SELP, OLR1
4ischemia30.7PECAM1, SELP, OLR1, FGA, PON1, ITGAL
5atherosclerosis30.6ADIPOQ, ADAMTSL1, CETP, PECAM1, SELP, OLR1
6periodontitis30.1TLR4
7carotid stenosis30.1SELP, PON1
8hypertension30.1OLR1, LPA, APOB, APOA1
9carotid artery disease29.9PON1, APOB
10familial hypercholesterolemia29.9CETP, APOB
11non-hodgkin lymphoma29.9PECAM1, FGA, PON1, ITGAL
12cerebrovascular disease29.9CETP, SELP, PON1, APOB, APOA1, SOD3
13pneumonia29.9FGA, PIK3C2A, SOD3, TLR4, CCL11
14type 2 diabetes mellitus29.9ADIPOQ, CETP, SELP, PON1, LIPC, LPA
15obesity29.9ADIPOQ, CETP, PON1, LIPC, LPA, SCARB1
16ischemic heart disease29.9ADAMTSL1, CETP, SELP, OLR1, FGA, PON1
17diabetes mellitus29.9ADIPOQ, ADAMTSL1, CETP, PECAM1, SELP, OLR1
18angina pectoris10.4
19takayasu's arteritis10.3
20coronary aneurysm10.3
21kawasaki disease10.3
22hyperphosphatemia10.3
23mediastinitis10.3
24coronary restenosis10.2
25aortic valve stenosis10.2
26relapsing polychondritis10.1
27williams-beuren syndrome10.1
28subendocardial myocardial infarction10.1
29inferior myocardial infarction10.1
30brain disease10.1
31pulmonary embolism10.1
32williams syndrome10.1
33hypertrophic cardiomyopathy10.1
34myocardial stunning10.1
35apical myocardial infarction10.1
36hepatitis10.0CCL11
37diabetic retinopathy10.0PON1
38pancreatitis10.0SELP
39protein s deficiency10.0FGA
40infertility10.0PON1
41age related macular degeneration10.0LIPC
42ovarian cancer10.0FGA
43colorectal cancer10.0SELP
44growth hormone deficiency10.0ADIPOQ
45xanthomatosis10.0APOB
46acute pancreatitis10.0TLR4
47neuropathy10.0PIK3C2A
48chylomicron retention disease10.0APOB
49sarcoidosis10.0SELP, CCL11
50cholestasis10.0CETP, LIPC

Graphical network of the top 20 diseases related to Coronary Stenosis:



Diseases related to coronary stenosis

Clinical Features for Coronary Stenosis

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Drugs & Therapeutics for Coronary Stenosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Coronary Stenosis

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Anatomical Context for Coronary Stenosis

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32MalaCards
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MalaCards organs/tissues related to Coronary Stenosis:

32
Heart, Endothelial, Testes, Brain, Monocytes, Bone marrow, Bone, Liver

Animal Models for Coronary Stenosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Coronary Stenosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.9COL3A1, TLR4, APOA1, APOB, SCARB1, FGA
2MP:00053978.7TLR4, APOA1, SCARB1, PIK3C2A, ITGAL, FGA
3MP:00053858.5COL3A1, TLR4, APOA1, APOB, SCARB1, PON1
4MP:00053878.1SCARB1, APOA1, SOD3, TLR4, CCL11, PIK3C2A
5MP:00053767.9ADIPOQ, COL3A1, TLR4, SOD3, APOA1, APOB

Publications for Coronary Stenosis

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50PubMed
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Articles related to Coronary Stenosis:

(show top 50)    (show all 720)
idTitleAuthorsYear
1
Myocardial strain analysis by 2-dimensional speckle tracking echocardiography improves diagnostics of coronary artery stenosis in stable angina pectoris. (24186963)
2014
2
Correlation between the severity of periodontitis and coronary artery stenosis in a Chinese population. (23981215)
2013
3
Single left coronary ostium and an anomalous prepulmonic right coronary artery in 2 dogs with congenital pulmonary valve stenosis. (23660401)
2013
4
Multi-layer radial systolic strain vs. one-layer strain for confirming reperfusion from a significant non-occlusive coronary stenosis. (22531463)
2013
5
A computed tomography-based coronary lesion score to predict acute coronary syndrome among patients with acute chest pain and significant coronary stenosis on coronary computed tomographic angiogram. (22481015)
2012
6
Hybrid coronary revascularization for the treatment of left main coronary stenosis: a feasibility study. (21954115)
2012
7
Regarding "Short-term results of a randomized trial examining timing of carotid endarterectomy in patients with severe asymptomatic unilateral carotid stenosis undergoing coronary artery bypass grafting". (22183007)
2012
8
Anterograde flow compromise of a patent left internal mammary artery graft from a proximal subclavian artery stenosis. Myocardial ischemia not driven by the coronary-subclavian steal syndrome mechanism. (22735654)
2012
9
Carotid stenosis and coronary artery bypass grafting. (21691697)
2011
10
Internal mammary artery dilatation in a patient with aortic coarctation, aortic stenosis, and coronary disease. Case report. (21496323)
2011
11
Predictors of coronary spasm in patients with chest pain and no significant coronary stenosis. (19135733)
2010
12
Patients with coronary stenosis and a fractional flow reserve of a8Y0.75 measured in daily practice at the VU University Medical Center. (20862234)
2010
13
Severe left main coronary stenosis and mitral regurgitation in a young female patient without cardiovascular risk factors 14 years after mediastinal radiation therapy. (20039173)
2010
14
Risk of coronary artery stenosis in Iranian type 2 diabetics: is there a role for matrix metalloproteinase-3 gene (-1612 5A/6A) polymorphism? (20740392)
2010
15
Left main coronary stenosis as a consequence of bentall operation: percutaneous treatment. (19946628)
2009
16
Metabolic syndrome and homocysteine level as predictors of the severity of coronary artery disease in patients with carotid stenosis. (19794302)
2009
17
Ask the doctor. I am an 85-year-old man with advanced aortic valve stenosis, coronary artery disease, and atrial fibrillation. Otherwise, my general health is pretty good. My doctor said I should wait until I experience symptoms or signs of heart failure before having aortic valve replaced. Shouldn't I get it done before my heart gets so stressed that I go into heart failure? (20568349)
2009
18
Circulating CXCL16 is related to the severity of coronary artery stenosis. (18514099)
2008
19
Simultaneous assessment of coronary stenosis, myocardial perfusion, and ventricular function in a patient with acute myocardial infarction. (19083934)
2008
20
Genetic variants in hypertensive patients with coronary artery disease and coexisting atheromatous renal artery stenosis. (19043368)
2008
21
Acute coronary stenosis in a young man with BehAset's syndrome. (18287802)
2008
22
Interleukin 6 plasma levels predict with high sensitivity and specificity coronary stenosis detected by coronary angiography. (18064337)
2007
23
Images in cardiology. Left main coronary artery stenosis associated with aortitis in a patient with Crohn's disease. (16614273)
2006
24
Noninvasive assessment of coronary stenosis. (16467741)
2006
25
Transient left ventricular basal dysfunction without coronary stenosis in acute cerebral disorders: a novel heart syndrome (inverted Takotsubo). (16060897)
2005
26
Isovolumic but not ejection phase Doppler tissue indices detect left ventricular dysfunction caused by coronary stenosis. (16376749)
2005
27
Comparison of exercise QRS amplitude changes in patients with slow coronary flow versus significant coronary stenosis. (15240962)
2004
28
Platelet-endothelial cell adhesion molecule-1 gene polymorphism and its soluble level are associated with severe coronary artery stenosis in Chinese Singaporean. (15589815)
2004
29
Impact of diabetes on coronary stenosis and coronary artery calcification detected by electron-beam computed tomography in symptomatic patients. (11919127)
2002
30
Simultaneous repair of stenosis in coronary and vertebral arteries and aortic regurgitation secondary to Takayasu's aortitis. (11905066)
2002
31
Modified bypass procedure and apicoaortic conduit. Management of coronary artery disease, aortic valve stenosis and porcelain aorta. (12574899)
2002
32
How to define coronary stenosis severity? (11387604)
2001
33
Simple detection of severe coronary stenosis using transthoracic Doppler echocardiography at rest. (11348603)
2001
34
Differential coronary artery calcification detected by electron beam computed tomography as an indicator of coronary stenosis among patients with stable angina pectoris. (11420578)
2001
35
Circulating levels of plasminogen activator inhibitor type-1, tissue plasminogen activator, and thrombomodulin in hemodialysis patients: biochemical correlations and role as independent predictors of coronary artery stenosis. (11373350)
2001
36
Detection and quantification of coronary stenosis severity with myocardial contrast echocardiography. (11568821)
2001
37
Surgical angioplasty of left main coronary stenosis complicating supravalvular aortic stenosis. (10320265)
1999
38
Sialic acid content of LDL in coronary artery disease: no evidence of desialylation in subjects with coronary stenosis and increased levels in subjects with extensive atherosclerosis and acute myocardial infarction: relation between desialylation and in vitro peroxidation. (9633926)
1998
39
Comparison of angioscopic, intravascular ultrasonic, and angiographic detection of thrombus in coronary stenosis. (9832106)
1998
40
Polymorphism of the platelet glycoprotein IIIa gene in patients with coronary stenosis. (9657436)
1998
41
Identifying coronary stenosis using an image-recognition neural network. (9313092)
1997
42
Transesophageal echocardiographic diagnosis of iatrogenic coronary sinus stenosis: a case report. (9305206)
1997
43
Changes in phasic coronary blood flow velocity profile in relation to changes in hemodynamic parameters during stress in patients with aortic valve stenosis. (7664424)
1995
44
Coronary stenosis associated with aneurysm: treatment with elective stenting in two patients. (7590844)
1995
45
Coronary disease and tracheal stenosis with tracheo-oesophageal fistula: a combined surgical procedure. (8049951)
1994
46
Role of coronary artery spasm in progression of organic coronary stenosis and acute myocardial infarction in a swine model. Importance of mode of onset and duration of coronary artery spasm. (8425301)
1993
47
Isolated left main coronary stenosis and mediastinal irradiation. (1617827)
1992
48
Effects of dipyridamole and aminophylline on hemodynamics, regional myocardial blood flow and thallium-201 washout in the setting of a critical coronary stenosis. (2254563)
1990
49
Functional measures of coronary stenosis severity at cardiac catheterization. (2358593)
1990
50
Residual coronary stenosis after thrombolysis with rt-PA or streptokinase: acute results and 3 weeks follow-up. (3121335)
1987

Genetic Variations for Coronary Stenosis

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Expression for genes affiliated with Coronary Stenosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Coronary Stenosis

Search GEO for disease gene expression data for Coronary Stenosis.

Pathways for genes affiliated with Coronary Stenosis

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53Reactome, 29KEGG, 37NCBI BioSystems Database, 12EMD Millipore, 49PharmGKB
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Pathways related to Coronary Stenosis according to GeneCards/GeneDecks:

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0APOB, LPA, CETP
210.0ADIPOQ, OLR1, APOA1
310.0SOD3, APOA1, SCARB1
410.0APOB, CETP, ADIPOQ
510.0LPA, APOB, APOA1
610.0APOB, LPA, SELP
79.9APOB, APOA1, COL3A1
89.9APOA1, APOB, SCARB1
99.9SCARB1, APOB, APOA1
109.9SCARB1, APOB, APOA1
119.9PECAM1, ITGAL, TLR4
12
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9.9FGA, OLR1, SELP, PECAM1
13
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9.9APOA1, FGA, SELP, PECAM1
149.9SOD3, APOB, CETP, ADIPOQ
159.8SOD3, APOA1, APOB, SCARB1
16
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9.8COL3A1, ITGAL, FGA, PECAM1
17
Hide members
9.7COL3A1, APOA1, APOB, SCARB1
18
Hide members
9.7APOA1, APOB, SCARB1, LPA, CETP
19
Hide members
9.6CETP, LIPC, SCARB1, APOB, APOA1
209.6APOB, ITGAL, OLR1, SELP, PECAM1
21
Hide members
9.2APOA1, APOB, SCARB1, PIK3C2A, LPA, LIPC
22
Hide members
9.1COL3A1, CCL11, HTR2A, APOA1, APOB, ITGAL

Compounds for genes affiliated with Coronary Stenosis

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44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank, 49PharmGKB, 59Tocris Bioscience
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Compounds related to Coronary Stenosis according to GeneCards/GeneDecks:

(show top 50)    (show all 169)
idCompoundScoreTop Affiliating Genes
1uric acid44 2411.5PIK3C2A, SOD3
2alpha tocopherol4410.4ITGAL, SCARB1
3superoxide44 2411.2LPA, ITGAL, OLR1, SOD3
4estrogen4410.2LPA, ADAMTSL1, CETP, LIPC
5acipimox44 2811.0APOB, ADIPOQ, CETP, APOA1
6glucose4410.0APOA1, SCARB1, PIK3C2A, LPA, OLR1
7probucol44 1111.0CETP, SCARB1, APOB, APOA1, LIPC
8ezetimibe44 1111.0SCARB1, APOA1, ADIPOQ, APOB, CETP
9warfarin44 49 11 2412.9PIK3C2A, LPA, FGA, SELP
10dextran sulfate449.9SELP, APOB, CETP, ADAMTSL1, APOA1
11niacin44 1110.9SCARB1, LPA, CETP, APOB, APOA1, ADIPOQ
12aspartate449.8PIK3C2A, APOA1, COL3A1, CETP, ADAMTSL1
13h2o2449.8ADIPOQ, ADAMTSL1, PON1, ITGAL, PECAM1, LPA
14cholesterol ester449.8CETP, LIPC, PON1, LPA, APOB, APOA1
15gemfibrozil44 28 1111.7LPA, LIPC, CETP, PON1, APOA1, APOB
16pioglitazone44 49 28 1112.7SCARB1, SOD3, APOB, ADIPOQ, OLR1, LIPC
17bezafibrate44 28 1111.7CETP, ADIPOQ, LPA, PIK3C2A, APOB, APOA1
18ascorbic acid44 2410.7PON1, ADIPOQ, SOD3, PIK3C2A, OLR1, CETP
19phosphatidylcholine449.7APOA1, SCARB1, LIPC, APOB, CETP, PON1
20triacylglycerol449.7CETP, LIPC, APOB, APOA1, ADIPOQ
21fluvastatin44 49 28 1112.6PON1, CETP, SELP, PIK3C2A, APOB, APOA1
22carbohydrates449.6TLR4, SCARB1, LIPC, CETP, ADIPOQ, SELP
23prostacyclin449.6SELP, ADAMTSL1, FGA, PIK3C2A, APOA1, PECAM1
24malondialdehyde449.6FGA, LPA, PIK3C2A, SOD3, PON1
25intralipid449.5CETP, LIPC, APOB, APOA1
26vitamin a44 11 2411.5LIPC, APOA1, APOB, SCARB1, ADIPOQ, LPA
27thyroxine44 2410.5APOA1, LPA, APOB, PON1, LIPC, ADIPOQ
28serine449.5LIPC, TLR4, ADIPOQ, PECAM1, FGA, CETP
29lovastatin44 49 59 28 1113.5LPA, ITGAL, PIK3C2A, APOB, LIPC, PON1
30sterol449.5LIPC, CETP, ADIPOQ, SCARB1, APOB, APOA1
31homocysteine44 2410.5SOD3, APOA1, APOB, ADIPOQ, CETP, SELP
32creatinine449.4APOA1, APOB, LPA, PON1, PIK3C2A, SELP
33acetylcholine44 49 28 11 2413.4ADIPOQ, FGA, PON1, PIK3C2A, TLR4, APOA1
34fatty acid449.3APOB, SCARB1, PIK3C2A, LPA, LIPC, ADIPOQ
35arginine449.2PIK3C2A, LIPC, SOD3, CETP, SELP, ADIPOQ
36pravastatin44 49 28 11 2413.2ITGAL, LPA, PIK3C2A, OLR1, SELP, CETP
37vegf449.2SELP, ADAMTSL1, APOB, LPA, PIK3C2A, SOD3
38cysteine449.1TLR4, SELP, PECAM1, OLR1, PON1, ITGAL
39nitric oxide44 11 2411.1OLR1, PECAM1, SOD3, CCL11, TLR4, SELP
40fenofibrate44 49 1111.1ADIPOQ, CETP, SELP, OLR1, PON1, LIPC
41cyclosporin a44 28 5911.1CETP, ADAMTSL1, PIK3C2A, ITGAL, CCL11, LIPC
42phospholipid449.1ADIPOQ, ADAMTSL1, CETP, PECAM1, PON1, LIPC
43alanine448.9CCL11, CETP, PON1, ADIPOQ, ITGAL, PIK3C2A
44atorvastatin44 49 28 11 2412.8APOB, SCARB1, PIK3C2A, LPA, LIPC, PON1
45simvastatin44 49 59 28 11 2413.8CETP, SELP, OLR1, TLR4, APOA1, APOB
46heparin44 28 11 2411.8SOD3, LPA, ITGAL, PON1, FGA, PECAM1
47fibrinogen448.6TLR4, ADIPOQ, ADAMTSL1, PECAM1, APOA1, APOB
48aspirin44 49 28 2411.6CCL11, TLR4, APOA1, APOB, SCARB1, LPA
49lipid448.1FGA, OLR1, PECAM1, CETP, ADAMTSL1, ADIPOQ
50cholesterol44 28 11 2411.0ADIPOQ, LPA, ITGAL, LIPC, PON1, FGA

GO Terms for genes affiliated with Coronary Stenosis

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16Gene Ontology
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Cellular components related to Coronary Stenosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endocytic vesicle lumenGO:07168210.1APOB, APOA1
2platelet alpha granule membraneGO:03109210.1PECAM1, SELP
3high-density lipoprotein particleGO:03436410.0APOA1, LIPC, PON1, CETP
4spherical high-density lipoprotein particleGO:0343669.9PON1, APOA1
5external side of plasma membraneGO:0098979.7TLR4, ITGAL, FGA, SELP
6extracellular regionGO:0055769.1COL3A1, CCL11, APOA1, APOB, LPA, PON1
7extracellular spaceGO:0056158.8ADIPOQ, COL3A1, CCL11, SOD3, APOA1, APOB
8plasma membraneGO:0058868.6APOB, APOA1, HTR2A, TLR4, SCARB1, PIK3C2A

Biological processes related to Coronary Stenosis according to GeneCards/GeneDecks:

(show all 34)
idNameGO IDScoreTop Affiliating Genes
1lipoprotein biosynthetic processGO:04215810.5APOA1, APOB
2cholesterol importGO:07050810.4SCARB1, APOA1
3very-low-density lipoprotein particle remodelingGO:03437210.4LIPC, CETP
4positive regulation of platelet activationGO:01057210.4TLR4, SELP
5negative regulation of heterotypic cell-cell adhesionGO:03411510.4APOA1, ADIPOQ
6high-density lipoprotein particle clearanceGO:03438410.4APOA1, SCARB1
7detection of lipopolysaccharideGO:03249710.4SCARB1, TLR4
8cholesterol transportGO:03030110.4CETP, APOB, APOA1
9phosphatidylcholine metabolic processGO:04647010.4CETP, PON1
10low-density lipoprotein particle remodelingGO:03437410.4APOB, LIPC, CETP
11negative regulation of tumor necrosis factor-mediated signaling pathwayGO:01080410.3APOA1, ADIPOQ
12phospholipid transportGO:01591410.3CETP, SCARB1
13phospholipid homeostasisGO:05509110.3APOA1, CETP
14positive regulation of cholesterol storageGO:01088610.3APOB, SCARB1
15receptor-mediated endocytosisGO:00689810.3CETP, LPA, APOB
16leukocyte cell-cell adhesionGO:00715910.3ITGAL, OLR1, SELP
17low-density lipoprotein particle clearanceGO:03438310.3ADIPOQ, SCARB1, APOB
18cholesterol effluxGO:03334410.3SCARB1, APOB, APOA1
19platelet degranulationGO:00257610.2APOA1, FGA, SELP, PECAM1
20high-density lipoprotein particle remodelingGO:03437510.2APOA1, SCARB1, LIPC, CETP
21reverse cholesterol transportGO:04369110.2APOA1, SCARB1, LIPC, CETP
22triglyceride homeostasisGO:07032810.2CETP, LIPC, SCARB1, APOA1
23blood vessel endothelial cell migrationGO:04353410.2APOA1, SCARB1
24positive regulation of cholesterol effluxGO:01087510.2ADIPOQ, PON1
25cholesterol metabolic processGO:00820310.1APOA1, APOB, LIPC, PON1, CETP
26negative regulation of macrophage derived foam cell differentiationGO:01074510.1CETP, ADIPOQ
27platelet activationGO:03016810.1COL3A1, APOA1, FGA, SELP, PECAM1
28cholesterol homeostasisGO:04263210.0CETP, LIPC, SCARB1, APOB, APOA1
29leukocyte migrationGO:05090010.0APOB, ITGAL, OLR1, SELP, PECAM1
30lipoprotein metabolic processGO:0421579.9CETP, OLR1, LPA, SCARB1, APOB, APOA1
31cell adhesionGO:0071559.9CCL11, SCARB1, ITGAL, SELP, PECAM1
32endothelial cell proliferationGO:0019359.8APOA1, SCARB1
33inflammatory responseGO:0069549.8SELP, OLR1, ITGAL, CCL11
34blood coagulationGO:0075969.7APOA1, APOB, ITGAL, FGA, OLR1, SELP

Molecular functions related to Coronary Stenosis according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1phospholipid transporter activityGO:00554810.2APOA1, CETP
2cholesterol transporter activityGO:01712710.2APOA1, APOB, CETP
3lipopolysaccharide receptor activityGO:00187510.1SCARB1, TLR4
4low-density lipoprotein particle bindingGO:03016910.1LIPC, SCARB1
5apolipoprotein bindingGO:03418510.1SCARB1, LPA, LIPC
6high-density lipoprotein particle bindingGO:00803510.0SCARB1, APOA1
7lipopolysaccharide bindingGO:00153010.0TLR4, SCARB1, SELP
8heparin bindingGO:0082019.9SELP, LIPC, LPA, APOB, SOD3
9sialic acid bindingGO:0336919.8ADIPOQ, SELP

Products for genes affiliated with Coronary Stenosis

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Sources for Coronary Stenosis

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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