MCID: HYP095
MIFTS: 65

Hypercholesterolemia malady

Summaries for Hypercholesterolemia

Sources:
21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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Genetics Home Reference:21 Hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). The body needs this substance to build cell membranes, make certain hormones, and produce compounds that aid in fat digestion. Too much cholesterol, however, increases a person's risk of developing heart disease.

MalaCards: Hypercholesterolemia, also known as elevated cholesterol, is related to familial hypercholesterolemia and atherosclerosis. An important gene associated with Hypercholesterolemia is ITIH4 (inter-alpha-trypsin inhibitor heavy chain family, member 4), and among its related pathways are Statin Pathway, Pharmacodynamics and Lipoprotein metabolism. The drugs psyllium and psyllium hydrocolloid and the compounds cholesterol and lipid have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, whole blood and brain, and related mouse phenotypes are homeostasis/metabolism and liver/biliary system.

Wikipedia:64 Hypercholesterolemia (also spelled hypercholesterolaemia) is the presence of high levels of cholesterol... more...

Description from OMIM:47 143890

Aliases & Classifications for Hypercholesterolemia

Sources:
21Genetics Home Reference, 47OMIM, 45Novoseek, 61UMLS
See all sources

Aliases & Descriptions:

hypercholesterolemia 21 47 45 61
elevated cholesterol 21


Related Diseases for Hypercholesterolemia

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the familial hypercholesterolemia family:

hypercholesterolemia hypercholesterolemia, familial, 3
hypercholesterolemia, due to ligand-defective apo b hypercholesterolemia, familial, due to ldlr defect, modifier of

Diseases related to Hypercholesterolemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 215)
idRelated DiseaseScoreTop Affiliating Genes
1familial hypercholesterolemia31.9APOB, PCSK9, HMGCR, CETP, LDLR
2atherosclerosis31.2LDLR, LDLRAP1, CETP, HMGCR, ABCA1, LCAT
3coronary artery disease,30.8APOA2, APOE, APOA1, LCAT, COG2, APOB
4hypertriglyceridemia30.7CETP, HMGCR, ABCA1, CYP7A1, MTTP, LPL
5coronary heart disease30.7APOB, APOA2, APOE, APOA1, LCAT, COG2
6familial combined hyperlipidemia30.5APOA1, APOE, APOB, HMGCR
7insulin resistance30.4LDLR, CETP, HMGCR, MTTP, LPL, APOB
8xanthomatosis30.2LDLR, LDLRAP1, ABCA1, CYP7A1, LPL, APOB
9acute myocardial infarction30.2LCAT, APOA1, APOB, HMGCR
10vascular disease30.2LCAT, APOA1, APOE, APOB, LPL, ABCA1
11hyperlipidemia type 330.2LDLR, CETP, HMGCR, LPL, APOB, APOE
12type 2 diabetes mellitus30.1COG2, PON2, MTTP, LPL, APOB, APOA2
13hypoalphalipoproteinemia30.1ABCA1, LPL, APOB, APOA2, APOA1, LCAT
14familial hypertriglyceridemia30.1APOA1, APOE, APOA2, APOB, LPL
15sitosterolemia30.1CYP7A1, HMGCR
16arteriosclerosis29.9COG2, APOA1, APOB, LPL, HMGCR, LDLR
17fish-eye disease29.9APOA2, APOA1, LCAT
18glucose intolerance29.9APOB, MTTP, CYP7A1
19arthritis29.9HMGCR
20abetalipoproteinemia29.7PCSK9, MTTP, LPL, APOB, APOE, APOA1
21alzheimer's disease29.7COG2, APOE, APOB, ITIH4, PON2, ABCA1
22diabetic nephropathy29.7APOA1, APOE, APOB, PON2, HMGCR
23peripheral vascular disease29.7APOA1, APOB, HMGCR, CETP
24arcus senilis29.7LCAT, APOA1, APOB
25type 1 diabetes29.7CETP, APOB, APOA1, LCAT
26lipoprotein lipase deficiency29.7LPL
27venous thrombosis29.7CETP, HMGCR, APOB
28alagille syndrome29.7LCAT, APOA1
29hyperhomocysteinemia29.7APOE
30cholelithiasis29.7CYP7A1
31cerebral atherosclerosis29.7APOA1
32lip disease10.3
33supravalvular aortic stenosis10.2
34hypercholesterolemia, familial, autosomal recessive10.2
35n syndrome10.2
36aortic atherosclerosis10.2
37cerebrotendinous xanthomatosis10.1
38hypercholesterolemia, familial, 310.1
39obstructive jaundice10.1
40myxedema10.1
41acute intermittent porphyria10.1
42protein c deficiency10.1
43hypercholesterolemia, familial, modification of10.1
44diabetes, type 210.1
45analbuminemia10.1
46hyperapobetalipoproteinemia10.1
47familial hyperlipidemia10.0LPL, APOB, APOA2, APOE, APOA1, LCAT
48obesity10.0LCAT, CETP, ABCA1, MTTP, LPL, APOB
49myocardial infarction10.0COG2, LCAT, APOA1, LDLR, CETP, HMGCR
50diabetes mellitus10.0COG2, LCAT, APOA1, APOE, APOA2, APOB

Graphical network of the top 20 diseases related to Hypercholesterolemia:



Diseases related to hypercholesterolemia

Clinical Features for Hypercholesterolemia

Sources:
47OMIM
See all sources

Clinical features from OMIM:

143890

Drugs & Therapeutics for Hypercholesterolemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Genetic Tests for Hypercholesterolemia

Anatomical Context for Hypercholesterolemia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Hypercholesterolemia:

33
Bone marrow, Whole blood, Brain, Heart, Smooth muscle, Skeletal muscle, Small intestine, Adipocyte, Kidney, Liver, Lung, Thyroid, Adrenal gland, Breast, Skin, Placenta, Prostate, Monocytes, T cells, B lymphoblasts, B cells, Endothelial, Fetal brain, Fetal liver, Fetal lung, Fetal thyroid

Animal Models for Hypercholesterolemia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Hypercholesterolemia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537611.4LPL, APOB, APOA2, APOE, APOA1, LCAT
2MP:000537011.3LDLR, LCAT, APOA1, APOE, APOB, LPL
3MP:000538510.9LCAT, APOA1, APOE, APOB, LPL, MTTP
4MP:000539510.8LDLR, ABCA1, APOA2, APOE

Publications for Hypercholesterolemia

Sources:
51PubMed
See all sources

Articles related to Hypercholesterolemia:

(show top 50)    (show all 1751)
idTitleAuthorsYear
1
For patients who inherit homozygous familial hypercholesterolemia, 2 new treatments available. (23610808)
2013
2
iPhone apps for heterozygous familial hypercholesterolemia. (24314369)
2013
3
Hypercholesterolemia as one of the risk factors of intracerebral hemorrhage. (23801430)
2013
4
Assessment of subclinical atherosclerosis and intraplaque neovascularization using quantitative contrast-enhanced ultrasound in patients with familial hypercholesterolemia. (24125419)
2013
5
Delayed diagnosis of familial hypercholesterolemia: A case report of two patients from Egypt. (24314368)
2013
6
Effects of lifestyle modifications on cognitive impairments in a mouse model of hypercholesterolemia. (23470631)
2013
7
Retraction: Hypercholesterolemia promotes a CD36-dependent and endothelial nitric-oxide synthase-mediated vascular dysfunction. (23457389)
2013
8
Diet induced mild hypercholesterolemia in pigs: local and systemic inflammation, effects on vascular injury - rescue by high-dose statin treatment. (24260430)
2013
9
No significant improvement of cardiovascular disease risk indicators by a lifestyle intervention in people with familial hypercholesterolemia compared to usual care: results of a randomised controlled trial. (22490761)
2012
10
Severe periodontitis is associated with diastolic blood pressure elevation in individuals with heterozygous familial hypercholesterolemia: a pilot study. (21054230)
2011
11
Management of familial hypercholesterolemias in adult patients: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. (21600528)
2011
12
Accumulation of cardiovascular risks in Japanese women with abnormal glucose and mild to moderate hypercholesterolemia. (21862153)
2011
13
Chinese herbal medicines for hypercholesterolemia. (21735427)
2011
14
Evaluation of cholesterol lowering treatment of patients with familial hypercholesterolemia: a large cross-sectional study in The Netherlands. (19818960)
2010
15
Diagnosis scoring for clinical identification of children with heterozygous familial hypercholesterolemia. (19330934)
2009
16
Prevalence and clinical features of heterozygous carriers of autosomal recessive hypercholesterolemia in Sardinia. (19477448)
2009
17
After the failure of ENHANCEd cholesterol lowering in familial hypercholesterolemia, SEAS of problems with ezetimibe. (19049996)
2009
18
A randomized, multicentre, open-label, parallel-group trial to compare the efficacy and safety profile of daming capsule in patients with hypercholesterolemia. (19145637)
2009
19
Familial hypercholesterolemia and lipoprotein(a) hyperlipidemia as independent and combined cardiovascular risk factors. (20129380)
2009
20
Two mutations in LDLR gene were found in two Chinese families with familial hypercholesterolemia. (19020990)
2009
21
Synergistic effect of amlodipine and atorvastatin on blood pressure, left ventricular remodeling, and C-reactive protein in hypertensive patients with primary hypercholesterolemia. (18389332)
2008
22
Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutations in the LDLR gene. (18263977)
2008
23
Significant association of ABCG8:D19H gene polymorphism with hypercholesterolemia and insulin resistance. (18581044)
2008
24
The M235T polymorphism of the AGT gene modifies the risk of coronary artery disease associated with the presence of hypercholesterolemia. (18409009)
2008
25
Pitavastatin improves serum resistin levels in patients with hypercholesterolemia. (18385536)
2008
26
Atherogenic lipoprotein particle size and concentrations and the effect of pravastatin in children with familial hypercholesterolemia. (18492534)
2008
27
Experiences of guilt and shame in patients with familial hypercholesterolemia: a qualitative interview study. (17889493)
2007
28
Premature cardiovascular disease in young women with heterozygous familial hypercholesterolemia. (16716095)
2006
29
Paraoxonase genotype and carotid intima-media thickness in children with familial hypercholesterolemia. (16926679)
2006
30
Effects of colesevelam hydrochloride (WelChol) on biomarkers of inflammation in patients with mild hypercholesterolemia. (16923452)
2006
31
Metabolic syndrome accompanied by hypercholesterolemia is strongly associated with proinflammatory state and impairment of fibrinolysis in patients with type 2 diabetes: synergistic effects of plasminogen activator inhibitor-1 and thrombin-activatable fibrinolysis inhibitor. (16123492)
2005
32
Soluble epoxide hydrolase variant (Glu287Arg) modifies plasma total cholesterol and triglyceride phenotype in familial hypercholesterolemia: intrafamilial association study in an eight-generation hyperlipidemic kindred. (14673705)
2004
33
No genetic linkage or molecular evidence for involvement of the PCSK9, ARH or CYP7A1 genes in the Familial Hypercholesterolemia phenotype in a sample of Danish families without pathogenic mutations in the LDL receptor and apoB genes. (15530918)
2004
34
Effects of statins on circulating oxidized low-density lipoprotein in patients with hypercholesterolemia. (15655272)
2004
35
Molecular mechanisms of autosomal recessive hypercholesterolemia. (12642779)
2003
36
Maternal hypercholesterolemia during pregnancy promotes early atherogenesis in LDL receptor-deficient mice and alters aortic gene expression determined by microarray. (11901049)
2002
37
A "de novo" mutation of the LDL-receptor gene as the cause of familial hypercholesterolemia. (12009418)
2002
38
Fibrinolytic parameters and insulin resistance in young survivors of myocardial infarction with heterozygous familial hypercholesterolemia. (11253736)
2001
39
Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer. (10735626)
2000
40
Screening for mutations in exon 4 of the LDL receptor gene in Thai subjects with primary hypercholesterolemia: detection of a novel mutation D151Y by PCR-CFLP. (11194025)
2000
41
Evaluation of a newly discovered LDL receptor mutation (exon 10, GAC>AAC, D271N, "FH Graz-1") in familial hypercholesterolemia-- a familystudy]. (10230472)
1999
42
Two novel low-density lipoprotein receptor gene mutations (E397X and 347delGCC) in St. Petersburg familial hypercholesterolemia. (9889019)
1998
43
I/D polymorphism at the locus for ACE and apo A-I gene promoter polymorphism as risk factors for coronary artery disease in patients with familial hypercholesterolemia. (8739332)
1996
44
Characterization of mutations in the low density lipoprotein (LDL)- receptor gene in patients with homozygous familial hypercholesterolemia, and frequency of these mutations in FH patients in the United Kingdom. (9026534)
1996
45
Inhibition of thromboxane biosynthesis and platelet function by simvastatin in type IIa hypercholesterolemia. (7749833)
1995
46
The effects of plasma cholesterol reduction on vasoconstriction due to sympathetic activation in patients with moderate primary hypercholesterolemia]. (8028744)
1994
47
Pravastatin and gemfibrozil alone and in combination for the treatment of hypercholesterolemia. (8420296)
1993
48
Evaluation of the therapeutic efficacy of pravastatin in monothereapy and in association with gemfibrozil in hypercholesterolemia associated with moderate hyperglyceridemia]. (1298545)
1992
49
Familial hypercholesterolemia in a rhesus monkey pedigree: molecular basis of low density lipoprotein receptor deficiency. (2326270)
1990
50
Pharmacokinetics and pharmacodynamics of pravastatin alone and with cholestyramine in hypercholesterolemia. (2116260)
1990

Genetic Variations for Hypercholesterolemia

Expression for genes affiliated with Hypercholesterolemia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Hypercholesterolemia

Search GEO for disease gene expression data for Hypercholesterolemia.

Pathways for genes affiliated with Hypercholesterolemia

Sources:
50PharmGKB, 38NCBI BioSystems Database, 54Reactome, 30KEGG, 12EMD Millipore, 52QIAGEN
See all sources

Pathways related to Hypercholesterolemia according to GeneCards/GeneDecks:

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
11.4LDLR, LCAT, APOA1, CETP, HMGCR, ABCA1
2
Hide members
11.2CETP, ABCA1, MTTP, LPL, APOB, APOA2
3
Hide members
11.2LCAT, APOA1, APOE, APOA2, APOB, LPL
4
Hide members
10.9APOA1, APOE, APOA2, APOB, LPL, LDLR
510.9APOA1, APOE, APOA2, APOB, LPL, LDLR
6
Hide members
10.9APOA1, APOA2, CYP7A1, ABCA1, HMGCR
710.8APOA1, APOB, ABCA1, LDLR
810.8ABCA1, APOB, APOA2, APOA1
910.8APOA1, APOB, MTTP, ABCA1
1010.8CYP7A1, LPL, APOA2, APOA1
1110.7APOB, CETP, LDLR
1210.7CYP7A1, HMGCR, LDLR
1310.7ABCA1, HMGCR, LDLR
14
Hide members
10.7LDLR, HMGCR, LPL
15
Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF)
10.7ABCA1, APOA2, APOA1
1610.7APOB, APOE, APOA1
17
Hide members
10.7APOA1, APOE, APOB
1810.6LDLRAP1, LDLR
1910.6APOA1, APOB
2010.6CETP, ABCA1

Compounds for genes affiliated with Hypercholesterolemia

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB, 50PharmGKB, 60Tocris Bioscience
See all sources

Compounds related to Hypercholesterolemia according to GeneCards/GeneDecks:

(show top 50)    (show all 159)
idCompoundScoreTop Affiliating Genes
1cholesterol45 29 11 2415.1COG2, LCAT, APOA1, APOE, APOA2, APOB
2lipid4512.0APOB, LPL, MTTP, PON2, PCSK9, CYP7A1
3cholesterol ester4511.9LDLR, CETP, HMGCR, COG2, LCAT, APOA1
4sterol4511.8COG2, LCAT, APOA1, APOE, APOB, MTTP
5atorvastatin45 50 29 11 2415.8COG2, LCAT, APOA1, APOE, APOB, LPL
6bezafibrate45 29 1113.8APOA2, APOB, LPL, CYP7A1, ABCA1, HMGCR
7phospholipid4511.8CETP, APOA1, COG2, APOE, LPL, MTTP
8simvastatin45 50 60 29 11 2416.7LDLR, CETP, COG2, LCAT, APOA1, APOE
9phosphatidylcholine4511.7ABCA1, LDLR, CYP7A1, MTTP, CETP, LCAT
10pravastatin45 50 29 11 2415.7LCAT, APOA1, APOE, APOB, CYP7A1, ABCA1
11fenofibrate45 50 1113.7COG2, APOA1, APOA2, APOB, LPL, EPHX2
12triacylglycerol4511.7COG2, LCAT, APOA1, APOE, APOA2, APOB
13probucol45 1112.6LCAT, APOA1, APOE, APOB, LPL, ABCA1
14gemfibrozil45 29 1113.6COG2, APOA1, APOE, APOB, LPL, HMGCR
15niacin45 1112.6COG2, APOA1, APOB, LPL, MTTP, ABCA1
16heparin45 29 11 2414.6COG2, APOE, APOA2, HMGCR, ITIH4, LPL
17testosterone45 60 11 2414.5ABCA1, CETP, COG2, LCAT, APOE, APOB
18fluvastatin45 50 29 1114.5HMGCR, CETP, LDLR, LPL, APOB, COG2
19ezetimibe45 1112.5COG2, APOA1, APOB, MTTP, ABCA1, HMGCR
20lovastatin45 50 60 29 1115.4HMGCR, LPL, COG2, CETP, APOB, APOE
21glutamine4511.4APOA2, LCAT, APOE, APOB, LDLR, ITIH4
22thyroxine45 2412.4COG2, APOA1, APOE, APOB, LPL, HMGCR
23intralipid4511.4LCAT, APOA1, APOE, APOA2, APOB, LPL
24lathosterol45 2412.4APOE, APOB, MTTP, CYP7A1, HMGCR, CETP
25fatty acid4511.4LDLR, CETP, ABCA1, LPL, APOB, APOA2
26cholestyramine4511.4COG2, APOE, APOB, CYP7A1, HMGCR, CETP
27aspirin45 50 29 2414.4LDLR, HMGCR, ABCA1, APOB, APOE, COG2
28oleic acid45 29 11 2414.4CYP7A1, ABCA1, CETP, LDLR, MTTP, LPL
29ciprofibrate45 2912.3APOB, LDLR, HMGCR, EPHX2, LPL, APOA1
30retinyl palmitate45 2412.3LCAT, APOE, LPL, APOB, COG2, APOA1
31rosuvastatin45 50 29 1114.3LDLR, HMGCR, APOB, COG2, CETP, APOA1
32psyllium4511.2CETP, LDLR, LCAT, APOB, HMGCR
33dextran sulfate4511.2APOA1, LPL, LDLR, CETP, ITIH4, APOB
34estrogen4511.2CETP, CYP7A1, COG2, LCAT, MTTP
35dimyristoylphosphatidylcholine4511.2APOA1, LCAT, APOE, APOA2, LDLR
36palmitate4511.1CETP, COG2, LCAT, LDLR
37vitamin a45 11 2413.1APOA1, CETP, LDLR, LPL, APOB, APOE
38alpha tocopherol4511.1LCAT, LPL, LDLR
39colestipol4511.1HMGCR, COG2, APOA1, APOB
40cyclosporin a45 29 6013.1COG2, APOE, LPL, ITIH4, LDLR, HMGCR
41serine4511.1LCAT, APOA2, LDLR, CETP, PCSK9, HMGCR
42tocopherol4511.1APOB, HMGCR, LDLR, LPL, APOA1
433-hydroxy-3-methylglutaryl-coa45 2412.0MTTP, LDLR, HMGCR, ABCA1, CYP7A1
44sitosterol4511.0CYP7A1, HMGCR, APOB, APOE
4524s-hydroxy-cholesterol4511.0ABCA1, CYP7A1, APOE, HMGCR
46xbai4511.0LPL, APOE, LDLR
47linoleic acid45 29 2412.9LDLR, CETP, ABCA1, MTTP, LPL, LCAT
48campesterol45 2411.9APOB, APOA1, HMGCR, APOE
49mspi4510.8LDLR, APOB, APOA2, APOA1, CETP
50taurocholate4510.6HMGCR, CYP7A1, LPL, APOB, APOA1

GO Terms for genes affiliated with Hypercholesterolemia

Sources:
16Gene Ontology
See all sources

Cellular components related to Hypercholesterolemia according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00557611.3APOE, APOA2, APOB, LPL, ITIH4, PON2
2early endosomeGO:00576911.3APOE, APOA2, APOB, PCSK9, LDLRAP1, LDLR
3extracellular spaceGO:00561511.2PCSK9, LPL, CETP, APOE, APOA1, LCAT
4very-low-density lipoprotein particleGO:03436111.1LPL, APOA1, APOE, APOA2, APOB
5high-density lipoprotein particleGO:03436411.1LCAT, APOA1, APOE, APOA2, CETP
6chylomicronGO:04262711.0APOE, APOA2, APOB, LPL
7Golgi apparatusGO:00579411.0APOE, MTTP, PCSK9, EPHX2, ABCA1, LDLR
8low-density lipoprotein particleGO:03436210.9APOE, LDLR, APOB
9endocytic vesicle lumenGO:07168210.9APOE, APOB, APOA1
10endoplasmic reticulum lumenGO:00578810.8APOA2, APOA1, MTTP, APOB
11intermediate-density lipoprotein particleGO:03436310.7APOB, APOE
12late endosomeGO:00577010.7APOE, LDLR, PCSK9
13extrinsic to external side of plasma membraneGO:03123210.5PCSK9, APOE
14spherical high-density lipoprotein particleGO:03436610.3APOA1, APOA2

Biological processes related to Hypercholesterolemia according to GeneCards/GeneDecks:

(show all 43)
idNameGO IDScoreTop Affiliating Genes
1cholesterol homeostasisGO:04263211.9LDLR, LDLRAP1, CETP, ABCA1, CYP7A1, EPHX2
2small molecule metabolic processGO:04428111.9LCAT, APOA1, APOE, APOA2, APOB, LPL
3lipoprotein metabolic processGO:04215711.7LPL, APOB, APOA2, APOE, APOA1, LCAT
4cholesterol metabolic processGO:00820311.7LCAT, LDLR, LDLRAP1, CETP, ABCA1, PCSK9
5reverse cholesterol transportGO:04369111.4LCAT, APOA1, APOE, APOA2, ABCA1, CETP
6triglyceride metabolic processGO:00664111.4APOE, APOA2, LPL, MTTP, PCSK9, CETP
7retinoid metabolic processGO:00152311.3APOA1, APOE, APOA2, APOB, LPL, LDLR
8phototransduction, visible lightGO:00760311.3APOA1, APOE, APOA2, APOB, LPL, LDLR
9cholesterol transportGO:03030111.3LCAT, APOA1, APOB, CETP, LDLR
10high-density lipoprotein particle remodelingGO:03437511.3LCAT, APOA1, APOE, APOA2, CETP
11cholesterol effluxGO:03334411.3APOA1, APOE, APOA2, APOB, ABCA1
12receptor-mediated endocytosisGO:00689811.2APOE, APOB, CETP, LDLRAP1, LDLR
13cellular lipid metabolic processGO:04425511.2APOA1, APOA2, CYP7A1, ABCA1, HMGCR
14lipoprotein biosynthetic processGO:04215811.2LCAT, APOA1, APOE, APOB
15high-density lipoprotein particle assemblyGO:03438011.2APOA1, APOE, APOA2, ABCA1
16very-low-density lipoprotein particle remodelingGO:03437211.2LCAT, APOE, LPL, CETP
17phospholipid effluxGO:03370011.2APOA1, APOE, APOA2, ABCA1
18low-density lipoprotein particle remodelingGO:03437411.2CETP, APOB, APOA2, APOE
19regulation of Cdc42 protein signal transductionGO:03248911.1ABCA1, APOE, APOA1
20lipoprotein catabolic processGO:04215911.1LDLR, APOB, APOE
21high-density lipoprotein particle clearanceGO:03438411.1APOA1, APOE, APOA2
22positive regulation of cholesterol esterificationGO:01087311.1APOA2, APOE, APOA1
23phospholipid homeostasisGO:05509111.1CETP, ABCA1, APOA1
24triglyceride homeostasisGO:07032811.0CETP, LPL, APOA1
25phosphatidylcholine biosynthetic processGO:00665611.0LCAT, APOA1, APOA2
26cholesterol importGO:07050810.9APOA1, LDLR
27negative regulation of lipase activityGO:06019210.9APOA1, APOA2
28negative regulation of very-low-density lipoprotein particle remodelingGO:01090310.9APOA1, APOA2
29regulation of intestinal cholesterol absorptionGO:03030010.9APOA2, APOA1
30protein oxidationGO:01815810.9APOA1, APOA2
31peripheral nervous system axon regenerationGO:01401210.9APOA1, APOE
32protein lipidationGO:00649710.9MTTP, ABCA1
33negative regulation of cytokine secretion involved in immune responseGO:00274010.9APOA1, APOA2
34peptidyl-methionine modificationGO:01820610.8APOA2, APOA1
35positive regulation of cholesterol storageGO:01088610.8APOB, LPL
36phospholipid transportGO:01591410.8LDLR, CETP
37low-density lipoprotein particle clearanceGO:03438310.8LDLR, APOB
38cellular response to cholesterolGO:07139710.7APOE, CYP7A1
39positive regulation of cholesterol effluxGO:01087510.7APOE, ABCA1
40cholesterol catabolic processGO:00670710.6APOE, CYP7A1
41positive regulation of macrophage derived foam cell differentiationGO:01074410.6LPL, APOB
42negative regulation of macrophage derived foam cell differentiationGO:01074510.5CETP, ABCA1
43lipoprotein transportGO:04295310.3MTTP, APOB

Molecular functions related to Hypercholesterolemia according to GeneCards/GeneDecks:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00551511.5APOA2, APOE, APOA1, LCAT, COG2, APOB
2cholesterol transporter activityGO:01712711.3CETP, ABCA1, APOB, APOA2, APOE, APOA1
3low-density lipoprotein particle receptor bindingGO:05075011.1APOE, APOB, PCSK9, LDLRAP1
4apolipoprotein bindingGO:03418511.1LPL, MTTP, PCSK9, ABCA1
5lipid transporter activityGO:00531911.1APOE, APOA2, MTTP, CETP
6cholesterol bindingGO:01548511.1CETP, ABCA1, APOA2, APOA1
7phospholipid bindingGO:00554311.1APOA1, APOE, APOA2, APOB, ABCA1
8lipid bindingGO:00828911.0APOE, APOA2, MTTP, CETP
9apolipoprotein receptor bindingGO:03419011.0APOA1, APOA2, PCSK9
10phosphatidylcholine-sterol O-acyltransferase activator activityGO:06022811.0APOA2, APOE, APOA1
11phospholipid transporter activityGO:00554811.0APOA1, ABCA1, CETP
12beta-amyloid bindingGO:00154011.0LDLRAP1, APOE, APOA1
13triglyceride bindingGO:01712910.8CETP, LPL
14high-density lipoprotein particle receptor bindingGO:07065310.8APOA1, APOA2
15apolipoprotein A-I bindingGO:03418610.8LCAT, ABCA1
16very-low-density lipoprotein particle receptor bindingGO:07032610.7PCSK9, APOE
17lipase inhibitor activityGO:05510210.7APOA2, APOA1
18low-density lipoprotein particle bindingGO:03016910.6LDLR, PCSK9
19high-density lipoprotein particle bindingGO:00803510.5APOA1, APOA2
20phosphatidylcholine bindingGO:03121010.3CETP, APOA2

Products for genes affiliated with Hypercholesterolemia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hypercholesterolemia

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet