MCID: ATH003
MIFTS: 71

Atherosclerosis malady

Cardiovascular diseases category

Summaries for Atherosclerosis

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33MedlinePlus, 63Wikipedia, 32MalaCards
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MedlinePlus:33 Atherosclerosis is a disease in which plaque builds up inside your arteries. plaque is a sticky substance made up of fat, cholesterol, calcium, and other substances found in the blood. over time, plaque hardens and narrows your arteries. that limits the flow of oxygen-rich blood to your body. atherosclerosis can lead to serious problems, including coronary artery disease. these arteries supply blood to your heart. when they are blocked, you can suffer angina or a heart attack. carotid artery disease. these arteries supply blood to your brain. when they are blocked you can suffer a stroke. peripheral arterial disease. these arteries are in your arms, legs and pelvis. when they are blocked, you can suffer from numbness, pain and sometimes infections. atherosclerosis usually doesn't cause symptoms until it severely narrows or totally blocks an artery. many people don't know they have it until they have a medical emergency. a physical exam, imaging, and other diagnostic tests can tell if you have it. medicines can slow the progress of plaque buildup. your doctor may also recommend procedures such as angioplasty to open the arteries, or surgery on the coronary or carotid arteries. lifestyle changes can also help. these include following a healthy diet, getting regular exercise, maintaining a healthy weight, quitting smoking, and managing stress. nih: national heart, lung, and blood institute

MalaCards: Atherosclerosis, also known as atherosclerosis, susceptibility to, is related to hypertension and coronary artery disease. An important gene associated with Atherosclerosis is ALOX5 (arachidonate 5-lipoxygenase), and among its related pathways are Metabolism and Lipoprotein metabolism. The compounds lipid and cholesterol have been mentioned in the context of this disorder. Affiliated tissues include heart, endothelial and monocytes, and related mouse phenotypes are homeostasis/metabolism and immune system.

Wikipedia:63 Atherosclerosis (also known as arteriosclerotic vascular disease or ASVD) is a specific form of... more...

Aliases & Classifications for Atherosclerosis

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Sources:
8Disease Ontology, 46OMIM, 10DISEASES, 44Novoseek, 33MedlinePlus, 60UMLS, 9diseasecard, 27ICD9CM, 56SNOMED-CT, 39NCIt, 34MeSH, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Cardiovascular diseases


Aliases & Descriptions:

atherosclerosis 8 46 10 44 33 60
atherosclerosis, susceptibility to 9


External Ids:

Disease Ontology8 DOID:1936
ICD9CM27 440
NCIt39 C35768
MeSH34 D050197
ICD1025 I70

Related Diseases for Atherosclerosis

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

(show top 50)    (show all 341)
idRelated DiseaseScoreTop Affiliating Genes
1hypertension31.1SELE, OLR1, LPA, PPARG, CCL2
2coronary artery disease31.1PPARG, LPA, ATHS, MMP3, GJA4, OLR1
3diabetes mellitus31.0CETP, SELE, PPARG, CCL2, HMGCR, OLR1
4obesity31.0ALOX5, CETP, SELE, MMP3, LPA, PPARG
5familial hypercholesterolemia30.9HMGCR, CETP
6myocardial infarction30.9CETP, ALOX5AP, HMGCR, OLR1, SAA1, LPA
7arthritis30.8SELE, SAA1, CCL2, MMP3, HMGCR, ALOX5
8systemic lupus erythematosus30.8SELE, CCL2, ALOX5, MMP3
9rheumatoid arthritis30.8ALOX5AP, ALOX5, ALOX15, HMGCR, LPA, CCL2
10vascular disease30.8OLR1, HMGCR, SELE, APOC2, LPA, PPARG
11stroke, ischemic30.7LPA, ALOX5AP, SELE, HMGCR
12type 2 diabetes mellitus30.7SELE, CETP, CCL2, APOC2, PPARG, LPA
13hyperhomocysteinemia30.6LPA, SELE, CCL2
14ischemic heart disease30.6OLR1, LPA, HMGCR, CETP
15arteriosclerosis30.6CCL2, HMGCR, PPARG
16coronary stenosis30.5LPA, CETP, OLR1
17fatty liver disease30.5HMGCR, PPARG, CETP
18essential hypertension30.5LPA, CETP
19pneumonia30.5ALOX5AP, CCL2
20alzheimer's disease30.4LPA, APOC2, PPARG, HMGCR, MSR1, OLR1
21peripheral vascular disease30.4SELE, CCL2
22ischemia30.4OLR1, ALOX5, SELE, MMP3, HMGCR
23hyperglycemia30.4HMGCR, LPA, PPARG, CETP, SELE
24peritonitis30.4CCL2, ALOX5
25acute myocardial infarction30.3HMGCR, SELE, SAA1, LPA, OLR1
26xanthomatosis30.3MSR1
27familial hyperlipidemia30.2APOC2, CETP, LPA, HMGCR
28dementia30.2LPA, CETP, MMP3
29lipodystrophy30.2HMGCR, PPARG
30diabetic nephropathy30.1LPA, PPARG, HMGCR, CCL2
31hyperlipidemia type 330.1HMGCR, CETP, LPA
32polycystic ovary syndrome30.1PPARG
33osteoporosis30.1MMP3, ESR1, ALOX5, ALOX15, HMGCR
34tangier disease30.1PPARG, LPA, CETP
35glucose intolerance30.1APOC2, CETP, PPARG
36vasculitis30.1SELE, CCL2
37hepatitis b30.1MMP3
38asthma30.0ALOX5, SELE, ALOX15, CCL2, CETP, ALOX5AP
39psoriasis30.0ALOX5, SELE, CCL2
40nephrotic syndrome30.0CETP, HMGCR, LPA
41sitosterolemia30.0HMGCR, ABCG8
42hepatitis c30.0HMGCR
43proteinuria29.9ALOX5, HMGCR, OLR1, LPA, CETP, APOC2
44colon cancer29.8PPARG, MMP3, SELE, HMGCR, ALOX5
45prostate cancer29.8ESR1, PPARG, MSR1, ALOX15, ALOX5
46endometriosis29.8CCL2, HMGCR, ESR1, MMP3
47abdominal aortic aneurysm29.8CCL2, MMP3, CETP
48cerebrovascular disease29.8HMGCR, CETP
49angioedema29.8ALOX5
50hypothyroidism29.8CETP, LPA

Graphical network of the top 20 diseases related to Atherosclerosis:



Diseases related to atherosclerosis

Clinical Features for Atherosclerosis

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Drugs & Therapeutics for Atherosclerosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Atherosclerosis

Drug clinical trials:

Search ClinicalTrials for Atherosclerosis

Search NIH Clinical Center for Atherosclerosis

Search CenterWatch for Atherosclerosis

Genetic Tests for Atherosclerosis

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Anatomical Context for Atherosclerosis

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Sources:
30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Atherosclerosis:

32
Heart, Endothelial, Monocytes, Smooth muscle, Kidney, Testes, Brain, Liver, Lung, T cells, Bone, Myeloid, Ovary, Adipocyte, B cells, Thyroid, Skin, Colon, Prostate, Pancreas, Spinal cord, Globus pallidus, Placenta, Bone marrow, Skeletal muscle, Retina, Lymph node, Eye, Pituitary

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Atherosclerosis:
id TissueAnatomical CompartmentCell Relevance
1 EndotheliumArteriesArterial Endothelial Cells Potential therapeutic candidate, affected by disease
2 HeartCoronary Capillary Plexus  Affected by disease
3 HeartCoronary Vessels  Affected by disease

Animal Models for Atherosclerosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Atherosclerosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537612.9ALOX5, CCL2, SAA1, PPARG, MMP3, OLR1
2MP:000538712.5OLR1, MMP3, PPARG, CCL2, MSR1, SELE
3MP:000538512.2CCL2, PPARG, GJA4, OLR1, MSR1, SELE
4MP:000539711.7CCL2, PPARG, ABCG8, MSR1, SELE, ESR1
5MP:000537011.5CCL2, PPARG, ABCG8, SELE, ESR1, CEL
6MP:000537511.4ALOX5, CEL, ESR1, PPARG, CCL2

Publications for Atherosclerosis

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Sources:
50PubMed
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Articles related to Atherosclerosis:

(show top 50)    (show all 4340)
idTitleAuthorsYear
1
Matrix metalloproteinase 7 is associated with symptomatic lesions and adverse events in patients with carotid atherosclerosis. (24400123)
2014
2
Importance of evaluating cell cholesterol influx with efflux in determining the impact of human serum on cholesterol metabolism and atherosclerosis. (24202308)
2014
3
Discrete land uses and transportation walking in two U.S. cities: the Multi-Ethnic Study of Atherosclerosis. (24148201)
2013
4
Association of atherosclerosis-related markers and its relationship to n-3 polyunsaturated fatty acids levels with a prevalence of coronary artery disease in an urban area in Japan. (24309896)
2013
5
The effect of PPE-induced emphysema and chronic LPS-induced pulmonary inflammation on atherosclerosis development in APOE*3-LEIDEN mice. (24303000)
2013
6
Endothelium-specific insulin resistance leads to accelerated atherosclerosis in areas with disturbed flow patterns: a role for reactive oxygen species. (23958265)
2013
7
Characterization of human anti-heat shock protein 60 monoclonal autoantibody Fab fragments in atherosclerosis: genetic and functional analysis. (23357787)
2013
8
Leptin treatment inhibits the progression of atherosclerosis by attenuating hypercholesterolemia in type 1 diabetic Ins2(+/Akita):apoE(-/-) mice. (23099119)
2012
9
Tumor necrosis factor receptor-associated factor 1 (TRAF1) deficiency attenuates atherosclerosis in mice by impairing monocyte recruitment to the vessel wall. (20421522)
2010
10
Polymorphisms in platelet glycoproteins Ia and IIIa are associated with arterial thrombosis and carotid atherosclerosis in type 2 diabetes. (20076847)
2010
11
Association between increasing levels of hemoglobin A1c and coronary atherosclerosis in asymptomatic individuals without diabetes mellitus. (20308881)
2010
12
Relationship of lipoprotein-associated phospholipase A2 and oxidized low density lipoprotein in carotid atherosclerosis. (19359705)
2009
13
Microbial factor and toll-like receptors in pathogenesis of atherosclerosis]. (20095435)
2009
14
Subclinical atherosclerosis in patients with psoriatic arthritis: a case-control study. Preliminary data]. (20143006)
2009
15
Inflammatory mediators and premature coronary atherosclerosis in rheumatoid arthritis. (19877084)
2009
16
The value of lipoprotein (a), homocysteine, and Doppler of carotid and femoral arteries in assessment of atherosclerosis in asymptomatic cardiovascular risk patients. (19027598)
2008
17
Leukocyte-derived hepatic lipase increases HDL and decreases en face aortic atherosclerosis in LDLr-/- mice expressing CETP. (18599739)
2008
18
Cyclooxygenase and prostaglandin synthases in atherosclerosis: recent insights and future perspectives. (18420277)
2008
19
Association of non-HDL cholesterol with subclinical atherosclerosis in HIV-positive patients. (18554723)
2008
20
Identification of atherosclerosis-associated conformational heat shock protein 60 epitopes by phage display and structural alignment. (17097662)
2007
21
CXCL4 in atherosclerosis: possible roles in monocyte arrest and macrophage foam cell formation. (18000592)
2007
22
Role of proinflammatory alleles in longevity and atherosclerosis: results of studies performed on -1562C/T MMP-9 in centenarians and myocardial infarction patients from Sicily. (17261792)
2006
23
Transcription factor and kinase-mediated signaling in atherosclerosis and vascular injury. (16640963)
2006
24
Guinea pigs: a suitable animal model to study lipoprotein metabolism, atherosclerosis and inflammation. (16566831)
2006
25
Human paraoxonase-1 overexpression inhibits atherosclerosis in a mouse model of metabolic syndrome. (16627808)
2006
26
Toll-like receptor (TLR)-9 promotor polymorphisms and atherosclerosis. (16125159)
2006
27
Serum levels of soluble vascular cell adhesion molecule-1 are decreased in women receiving oral contraceptives compared with normally menstruating women: implications in atherosclerosis. (15866588)
2005
28
Plasma homocysteine predicts progression of atherosclerosis. (15939068)
2005
29
Modulation of PPARgamma activity with pharmaceutical agents: treatment of insulin resistance and atherosclerosis. (12682906)
2003
30
The use of apolipoprotein B in clinical practice to determine the risk for atherosclerosis]. (12908345)
2003
31
Genetic factors associated with the absence of atherosclerosis in octogenarians. (12196500)
2002
32
Interleukin-1 receptor antagonist genotype is associated with coronary atherosclerosis in patients with type 2 diabetes. (12453918)
2002
33
Lecithin:cholesterol acyl transferase G30S: association with atherosclerosis, hypoalphalipoproteinemia and reduced in vivo enzyme activity. (11522275)
2001
34
The growth suppressor p27(Kip1) protects against diet-induced atherosclerosis. (11532979)
2001
35
Oxidized-LDL and atherosclerosis. Role of LOX-1. (10865829)
2000
36
A prospective study of genetic markers of susceptibility to infection and inflammation, and the severity, progression, and regression of coronary atherosclerosis and its response to therapy. (11199329)
2000
37
Pleiotropic effects of statins in atherosclerosis and diabetes. (10860194)
2000
38
Rapid regression of atherosclerosis induced by liver-directed gene transfer of ApoE in ApoE-deficient mice. (10479659)
1999
39
Heme oxygenase-carbon monoxide signalling pathway in atherosclerosis: anti-atherogenic actions of bilirubin and carbon monoxide? (10341838)
1999
40
Endothelial derived vasoactive factors and leukocyte derived inflammatory mediators in subjects with asymptomatic atherosclerosis. (9855370)
1998
41
Fibrinogen is an independent marker for thoracic aortic atherosclerosis. (9468075)
1998
42
Femoral atherosclerosis in middle-aged subjects: association with cardiovascular risk factors and insulin resistance. (8857823)
1996
43
Role of the thrombin receptor in restenosis and atherosclerosis. (7863981)
1995
44
Type I collagen gene expression in human atherosclerosis. Localization to specific plaque regions. (7504887)
1993
45
Ethanol stimulates apolipoprotein A-I secretion by human hepatocytes: implications for a mechanism for atherosclerosis protection. (1640859)
1992
46
Cerebral and aortic atherosclerosis in Hisayama, Japan. (7387771)
1980
47
Coronary and aortic atherosclerosis in relation to body-build factors. (1211855)
1975
48
Comparative study on cerebral atherosclerosis between an African (Nigerian) and American population groups (caucasian and negroes). (5129675)
1971
49
Chronic ischaemic myelopathy in aortic atherosclerosis. (4176479)
1968
50
The early lesions of aortic atherosclerosis in Cali, Colombia. (13649046)
1959

Genetic Variations for Atherosclerosis

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Expression for genes affiliated with Atherosclerosis

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Atherosclerosis

Search GEO for disease gene expression data for Atherosclerosis.

Pathways for genes affiliated with Atherosclerosis

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Sources:
53Reactome, 29KEGG, 49PharmGKB, 37NCBI BioSystems Database, 12EMD Millipore, 51QIAGEN
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Pathways related to Atherosclerosis according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
11.8ABCG8, HMGCR, CETP, CEL, ALOX5AP, ALOX5
2
Hide members
11.4CEL, CETP, ABCG8, LPA, APOC2
3
Hide members
11.2APOC2, ABCG8, HMGCR, CETP
411.2CCL2, SAA1, ALOX5AP, ALOX5
5
G-protein signaling Ras family GTPases in kinase cascades (scheme)
Hide members
11.1CCL2, PPARG, MMP3
611.1SELE, MMP3, CCL2
7
Hide members
11.1ALOX5AP, ALOX5, ALOX15
8
Hide members
11.1ALOX5AP, ALOX5, ALOX15
911.1ALOX15, ALOX5, ALOX5AP
1010.9CETP, LPA
11
Hide members
10.9ALOX5, ALOX15
12
Hide members
10.9ALOX5, ALOX5AP
1310.9MSR1, CCL2

Compounds for genes affiliated with Atherosclerosis

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Atherosclerosis according to GeneCards/GeneDecks:

(show top 50)    (show all 119)
idCompoundScoreTop Affiliating Genes
1lipid4414.0ABCG8, HMGCR, MSR1, CETP, CEL, ALOX5AP
2cholesterol44 28 11 2416.8CCL2, MSR1, SELE, CETP, CEL, HMGCR
3simvastatin44 49 59 28 11 2417.9CEL, CETP, SELE, HMGCR, MMP3, LPA
4pravastatin44 49 28 11 2416.5LPA, SELE, CETP, HMGCR, OLR1, MMP3
5phosphatidylcholine4412.5CCL2, LPA, PPARG, ALOX15, SELE, CEL
6heparin44 28 11 2415.4MMP3, SELE, CEL, LPA, HMGCR, ALOX5
7vegf4412.4CCL2, ALOX5, MMP3, LPA, SELE, HMGCR
8nitric oxide44 11 2414.4SELE, MSR1, OLR1, ALOX5AP, ALOX15, LPA
9serine4412.3GJA4, ALOX5, CCL2, CEL, APOC2, MMP3
10fenofibrate44 49 1114.3OLR1, LPA, HMGCR, PPARG, CCL2, CETP
11linoleic acid44 28 2414.3ALOX5, CEL, CETP, OLR1, PPARG, ALOX15
12atorvastatin44 49 28 11 2416.3LPA, SELE, CCL2, PPARG, OLR1, CETP
13aspirin44 49 28 2415.3ALOX5AP, CETP, SELE, HMGCR, LPA, PPARG
14n acetylcysteine4412.2MSR1, HMGCR, MMP3, CCL2, PPARG, SELE
15histamine44 28 2414.2ALOX5AP, SELE, HMGCR, OLR1, MMP3, CCL2
16glucose4412.0MSR1, OLR1, LPA, PPARG, SAA1, APOC2
17phospholipid4412.0OLR1, ABCG8, CETP, ALOX15, APOC2, CEL
18actinomycin d4412.0ALOX5AP, SELE, HMGCR, LPA, CCL2, ESR1
19genistein44 28 59 2 11 2416.9MMP3, SELE, CCL2, ALOX5, ESR1, PPARG
20gemfibrozil44 28 1113.9CETP, HMGCR, LPA, PPARG, APOC2
21cholesterol ester4411.9HMGCR, LPA, MSR1, CETP, CEL
22sulfasalazine44 28 49 1114.9ALOX5, CCL2, MMP3, SELE, PPARG
23arginine4411.8LPA, ALOX5, OLR1, CCL2, CETP, SAA1
24homocysteine44 2412.8SELE, CETP, APOC2, CCL2, LPA
25troglitazone44 28 59 1114.8CCL2, HMGCR, PPARG, SELE, MMP3
26prostacyclin4411.8ALOX5, SELE, PPARG, CCL2, HMGCR
27mk 88659 4412.7ALOX5AP, ALOX5, PPARG, ALOX15
28probucol44 1112.7CETP, CCL2, HMGCR, SELE
29fatty acid4411.6LPA, PPARG, CETP, CEL, APOC2
30niacin44 1112.6LPA, CETP, PPARG, HMGCR
31bezafibrate44 28 1113.6HMGCR, CETP, LPA, PPARG
32ndga4411.6MMP3, PPARG, ALOX5, ALOX5AP
33fluvastatin44 49 28 1114.5SELE, CETP, CCL2, HMGCR
34bw-b 70c5911.5ALOX15, ALOX5, ALOX5AP
35bay-x 10055911.4ALOX5, ALOX15, ALOX5AP
36celecoxib44 59 28 49 11 2416.4MMP3, HMGCR, PPARG, ALOX5
37creatinine4411.4HMGCR, MMP3, LPA, APOC2, SELE
38alpha tocopherol4411.4MSR1, CEL, ALOX5
39fenofibric acid44 2812.4HMGCR, PPARG, CCL2
40losartan44 49 28 1114.4CCL2, PPARG, OLR1, SELE
41cholestyramine4411.4HMGCR, LPA, CETP
42lathosterol44 2412.3HMGCR, ABCG8, CETP
43adma4411.3OLR1, SELE, CCL2
44zileuton59 44 28 1114.3ALOX15, ALOX5AP, ALOX5
45dexamethasone44 49 28 1114.3ALOX5AP, ALOX5, SAA1
46baicalein59 4412.2ALOX5AP, ALOX5, ALOX15
47cycloheximide4411.1ALOX5AP
48pge24411.1ALOX5AP
49rofecoxib44 49 28 1114.0PPARG, MMP3, ALOX5
50gamma-linolenic acid44 2411.8ALOX5, ALOX15, PPARG

GO Terms for genes affiliated with Atherosclerosis

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Sources:
16Gene Ontology
See all sources

Cellular components related to Atherosclerosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00557612.1CEL, CCL2, SAA1, APOC2, LPA, PON3
2extracellular spaceGO:00561511.5CCL2, APOC2, PON3, MMP3, SELE, CETP
3low-density lipoprotein particleGO:03436210.9MSR1, APOC2

Biological processes related to Atherosclerosis according to GeneCards/GeneDecks:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1small molecule metabolic processGO:04428112.5APOC2, LPA, ABCG8, HMGCR, CETP, CEL
2lipoprotein metabolic processGO:04215711.6CETP, OLR1, LPA, APOC2
3lipoxygenase pathwayGO:01937211.4ALOX5AP, ALOX5, ALOX15
4lipoprotein transportGO:04295311.4MSR1, PPARG, APOC2
5leukotriene metabolic processGO:00669111.4ALOX5AP, ALOX5, ALOX15
6receptor-mediated endocytosisGO:00689811.3LPA, MSR1, CETP
7arachidonic acid metabolic processGO:01936911.3ALOX15, ALOX5, ALOX5AP
8response to drugGO:04249311.3CCL2, APOC2, PPARG, ABCG8
9cholesterol homeostasisGO:04263211.3APOC2, ABCG8, CETP
10response to nutrientGO:00758411.2PPARG, ABCG8, HMGCR
11leukotriene production involved in inflammatory responseGO:00254011.2ALOX5, ALOX5AP
12lipoxin metabolic processGO:200130011.1ALOX5, ALOX5AP
13very-low-density lipoprotein particle remodelingGO:03437211.1CETP, APOC2
14lymphocyte chemotaxisGO:04824711.1SAA1, CCL2
15phospholipid transportGO:01591411.0CETP, ABCG8
16intestinal cholesterol absorptionGO:03029911.0CEL, ABCG8
17inflammatory responseGO:00695410.9CCL2, OLR1, SELE, ALOX15
18negative regulation of macrophage derived foam cell differentiationGO:01074510.9CETP, PPARG
19cholesterol transportGO:03030110.9CETP, MSR1
20macrophage chemotaxisGO:04824610.8SAA1, CCL2

Molecular functions related to Atherosclerosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cholesterol transporter activityGO:01712710.9CETP, ABCG8
2arachidonic acid bindingGO:05054410.8ALOX5AP, PPARG
3phospholipase bindingGO:04327410.6SELE, APOC2

Products for genes affiliated with Atherosclerosis

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  • Antibodies
  • Proteins
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Sources for Atherosclerosis

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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