Hypercholesterolemia malady

Genetics Home Reference: 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.¹⁷

MalaCards: Hypercholesterolemia, also known as elevated cholesterol, is related to familial hypercholesterolemia and hypertension. An important gene associated with Hypercholesterolemia is PCSK9 (proprotein convertase subtilisin/kexin type 9), and among its related pathways are Statin Pathway, Pharmacodynamics and Metabolism of lipids and lipoproteins. The drugs cerivastatin sodium and colestipol and the compounds gemfibrozil and polyacrylamide have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and liver, and related mouse phenotypes are liver/biliary system and endocrine/exocrine gland.

Wikipedia: Hypercholesterolemia is the presence of high levels of cholesterol in the blood. It is a form of...⁴⁴ more...

OMIM: 143890

hypercholesterolemia 7 17 8 33 32 43 elevated cholesterol 17

Diseases related to hypercholesterolemia by text searches and GeneDecks gene sharing:

(show top 50)    (show all 934)

id	Related Disease	Score	Top Affiliating Genes
1	familial hypercholesterolemia	42.5	COG2, PCSK9, LPA, LPL, LIPC, LDLR
2	hypertension	33.5	GNB3, CYP11B2, NOS2, NOS3, ACE, AGT
3	ischemic heart disease	33.1	PIK3C2A, COG2, RETN, SELP, SERPINE1, LPA
4	defective apolipoprotein b-100	33.0	LDLR, LCAT, APOB, APOE, HMGCR
5	familial combined hyperlipidemia	32.2	COG2, LPL, LIPC, USF1, LDLR, LCAT
6	hyperlipidemia	31.9	PIK3C2A, LRP1, COG2, RETN, VWF, PCSK9
7	hypertriglyceridemia	31.7	LRP1, COG2, RBP4, SELE, SELP, SERPINE1
8	cetp deficiency	31.5	LPL, LIPC, SCARB1, LDLR, LCAT, CETP
9	hepatitis	31.4	RBP4, SELP, XDH, GPT, F2, ALB
10	myocardial infarction	31.2	APOB, APOE, ESR1, OLR1, ACE, THBD
11	familial hypertriglyceridemia	30.4	LPL, USF1, APOA1, APOA2, APOA5, APOB
12	protein s deficiency	30.1	PIK3C2A, LRP1, RBP4, SERPINE1, LDLR, MTHFR
13	cholesterol	30.0	PIK3C2A, LRP1, COG2, RETN, VWF, PCSK9
14	hypoalphalipoproteinemia	29.7	LPA, LPL, LIPC, LDLR, LCAT, CETP
15	lipoprotein lipase deficiency	29.5	LPA, LPL, LCAT, CETP, INS, APOA1
16	xanthomatosis	29.4	LPA, LPL, LDLR, LDLRAP1, INS, APOA1
17	hypothyroidism	29.4	RETN, LPA, LEP, CETP, APOB, PON1
18	coronary heart disease	29.3	PIK3C2A, LRP1, COG2, RETN, VWF, PCSK9
19	sitosterolemia	29.1	MTTP, FDFT1, APOB, HMGCR, CYP7A1, CYP27A1
20	atherosclerosis	29.1	PIK3C2A, LRP1, COG2, RETN, VWF, PCSK9
21	hyperlipoproteinemia type iii	29.0	COG2, SELE, SERPINE1, LPA, LPL, VCAM1
22	cerebrotendinous xanthomatosis	28.7	APOA1, APOB, CALCA, HMGCR, CYP7A1, CYP3A4
23	homocystinuria	28.4	MTHFR, FBN1, F8, ALB, CBS, OTC
24	focal segmental glomerulosclerosis	28.3	RBP4, CD79A, ALB, NOS2, ACE, AGTR1
25	primary biliary cirrhosis	28.1	CETP, CD79A, CD40LG, GPT, F2, ALB
26	type 2 diabetes mellitus	28.1	COG2, RETN, VWF, GCG, RBP4, SELE
27	glucose intolerance	27.9	GCG, MTTP, CD79A, APOA4, APOB, CYP7A1
28	carotid artery thrombosis	27.9	COG2, SERPINE1, F3, F10, NOS3
29	type 1 diabetes mellitus	27.8	RETN, GCG, RBP4, LPA, LIPC, LEP
30	insulin resistance	27.4	LRP1, COG2, RETN, VWF, GCG, RBP4
31	beta thalassemia	27.1	LEP, MTHFR, INS, ENTPD1, GPT, IGF1
32	retinol binding protein	27.0	RETN, RBP4, LPA, LIPC, LEP, XDH
33	hypercalcemia	26.9	FGF2, IL1B, IL6, IGF1, ALB, ALPL
34	cerebrovascular disease	26.8	COG2, RETN, VWF, SELE, SELP, SELPLG
35	arteriosclerosis	25.7	COG2, SELE, SELP, SERPINE1, LPA, LPL
36	blindness	25.4	PIK3C2A, COG2, VWF, GCG, RBP4, SELE
37	cholestasis	25.3	GCG, RBP4, VEGFA, LPL, LIPC, LCAT
38	anorexia nervosa	25.1	PIK3C2A, COG2, RETN, GCG, SERPINE1, LPA
39	vascular disease	25.1	LRP1, RETN, VWF, SELE, SELP, SERPINE1
40	obesity	25.0	PIK3C2A, LRP1, COG2, RETN, VWF, PCSK9
41	nephrotic syndrome	24.9	PIK3C2A, RETN, VWF, RBP4, SELE, SELP
42	liver cancer	24.8	VEGFA, LIPF, LIPA, CHD1L, XDH, CDKN2A
43	thalassemia	24.8	PIK3C2A, VWF, SELE, VCAM1, PAPPA, LEP
44	essential hypertension	24.4	COG2, RETN, VWF, SELE, SELP, SERPINF2
45	homocysteine	24.1	PIK3C2A, COG2, RETN, VWF, GCG, SELE
46	thrombosis	23.3	PIK3C2A, LRP1, COG2, RETN, VWF, SELE
47	diabetes mellitus	23.2	PIK3C2A, COG2, RETN, VWF, GCG, RBP4
48	nephropathy	23.1	LRP1, COG2, RETN, VWF, GCG, RBP4
49	acute myocardial infarction	21.2	PIK3C2A, COG2, RETN, VWF, GCG, SELE
50	ischemia	20.4	PIK3C2A, COG2, RETN, VWF, GCG, SELE

Clinical features from OMIM: 143890

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 atorvastatin, atorvastatin calcium, cerivastatin, cerivastatin sodium, cholestyramine, clofibrate, colesevelam, colesevelam hydrochloride, colestipol, colestipol hydrochloride, dextrothyroxine, dextrothyroxine sodium, ezetimibe, fenofibrate, fluvastatin, fluvastatin sodium, gemfibrozil, lovastatin, pravastatin, pravastatin sodium, probucol, psyllium, psyllium hydrocolloid, psyllium hydrophilic mucilloid, psyllium mucilloid, psyllium seed coatings,blond, simvastatin

MalaCards organs/tissues related to hypercholesterolemia:

²²

MGI Mouse Phenotypes related to hypercholesterolemia:

²⁵ (show all 25)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	liver/biliary system phenotype	MP:0005370	11.1	RETN, PCSK9, VEGFA, LPL, LIPA, SCAP
2	endocrine/exocrine gland phenotype	MP:0005379	11.0	LIN9, LDLR, XDH, CDKN2B, CD40LG, GJA1
3	renal/urinary system phenotype	MP:0005367	10.8	SELP, SELPLG, LIPA, LCAT, CFH, CDKN2B
4	respiratory system phenotype	MP:0005388	10.7	SELP, LPL, LIPA, SCNN1A, CD14, ITGB3
5	immune system phenotype	MP:0005387	10.0	LRP1, VWF, SELP, SELPLG, LIN9, SCARB1
6	integument phenotype	MP:0010771	9.9	SELP, SELPLG, LIPA, LDLR, XDH, CDKN2B
7	embryogenesis phenotype	MP:0005380	9.7	LIN9, SCARB1, ATM, FDFT1, FBN1, APLN
8	other phenotype	MP:0005395	9.7	LDLR, CDKN2A, CD40LG, ITGB3, FBN1, APOA2
9	growth/size phenotype	MP:0005378	9.7	PIK3C2A, LRP1, GCG, SELE, SELP, SERPINE1
10	hematopoietic system phenotype	MP:0005397	9.5	ATM, CDKN2B, FGF2, FBN1, GP1BA, ALPL
11	adipose tissue phenotype	MP:0005375	9.4	PIK3C2A, LRP1, RETN, SERPINE1, LPL, LIPA
12	nervous system phenotype	MP:0003631	9.1	LRP1, VWF, SELP, LIN9, LIPA, USF1
13	digestive/alimentary phenotype	MP:0005381	8.4	VWF, GCG, VEGFA, LIN9, LIPA, LEP
14	reproductive system phenotype	MP:0005389	8.1	RBP4, VEGFA, LIN9, LIPC, SCARB1, LEP
15	no phenotypic analysis	MP:0003012	7.9	VEGFA, VCAM1, LIN9, CLEC4A, LDLR, MTHFR
16	behavior/neurological phenotype	MP:0005386	7.5	LRP1, SELE, SELP, LIPA, USF1, SCNN1A
17	cardiovascular system phenotype	MP:0005385	7.5	LRP1, VWF, RBP4, SELE, SELP, SERPINE1
18	skeleton phenotype	MP:0005390	7.2	LRP1, VEGFA, LEP, MTHFR, CD14, CDKN2A
19	mortality/aging	MP:0010768	7.0	PIK3C2A, LRP1, VWF, GCG, SELE, SELP
20	normal phenotype	MP:0002873	6.7	LRP1, RBP4, SELE, VEGFA, USF1, SCNN1A
21	vision/eye phenotype	MP:0005391	6.7	RBP4, SELE, SELP, VEGFA, LEP, LDLR
22	tumorigenesis	MP:0002006	6.5	SERPINE1, LEP, ATM, CDKN2B, CDKN2A, ITGB3
23	muscle phenotype	MP:0005369	6.2	LRP1, RBP4, VEGFA, LPL, LEP, LDLR
24	homeostasis/metabolism phenotype	MP:0005376	6.2	PIK3C2A, LRP1, RETN, VWF, PCSK9, GCG
25	cellular phenotype	MP:0005384	4.9	VWF, RBP4, SELE, SELP, SELPLG, VEGFA

Articles related to hypercholesterolemia:

(show top 50)    (show all 847)

id	Title	Authors	Year	Affiliating Genes
1	Adenosine monophosphate activated protein kinase regu lates ABCG1-mediated oxysterol efflux from endothelial cells and protects again st hypercholesterolemia-induced endothelial dysfunction. (20395595)	Li D.... Xia M.	2010	ABCG1
2	Lomitapide, a microsomal triglyceride transfer protei n inhibitor for the treatment of hypercholesterolemia. (20127562)	Rizzo M.	2010	MTTP
3	An NPC1L1 gene promoter variant is associated with au tosomal dominant hypercholesterolemia. (19747803)	MartA-n B.... Civeira F.	2010	LDLR, APOB, NPC1L1
4	A novel Thr56Met mutation of the autosomal recessive hypercholesterolemia gene associated with hypercholesterolemia. (20124734)	Harada K.... Morisaki T.	2010	LDLRAP1
5	Pharmacologic inhibition of squalene synthase and other downstream enzymes of the cholesterol synthesis pathway: a new therapeutic approach to treatment of hypercholesterolemia. (19367148)	Seiki S.... Frishman W.H.	2009	HMGCR, FDFT1, SQLE
6	ACAT inhibition and progression of carotid atherosclerosis in patients with familial hypercholesterolemia: the CAPTIVATE randomized trial. (19293413)	Meuwese M.C.... Stein E.A.	2009	SOAT1
7	Substituted pyrazoles as hepatoselective HMG-CoA reductase inhibitors: discovery of (3R,5R)-7-[2-(4-fluoro-phenyl)-4-isopropyl-5-(4-methyl-benzylcar bamoyl)-2H-pyrazol-3-yl]-3,5-dihydroxyheptanoic acid (PF-3052334) as a candidate for the treatment of hypercholesterolemia. (18072721)	Pfefferkorn J.A.... Tait B.D.	2008	HMGCR
8	Effects of peroxisome proliferator-activated receptor -gamma activation with pioglitazone on plasma adipokines in nondiabetic patient s with either hypercholesterolemia or hypertension. (18359318)	Barac A.... Panza J.A.	2008	PPARG, ADIPOQ, RETN
9	Significant association of ABCG8:D19H gene polymorphism with hypercholesterolemia and insulin resistance. (18581044)	Chen Z.C.... Hsiao P.J.	2008	INS, ABCG5, ABCG8
10	Effects of fluvastatin extended-release (80 mg) alone and in combination with ezetimibe (10 mg) on low-density lipoprotein cholesterol and inflammatory parameters in patients with primary hypercholesterolemia: A 12-week, multicenter, randomized, open-label, parallel-group study. (18343245)	Alvarez-Sala L.A.... PintA^ X.	2008	APOB, COG2
11	Detection of familial hypercholesterolemia in a cohort of children with hypercholesterolemia: results of a family and DNA-based screening. (17196209)	Campagna F.... Arca M.	2008	LDLR
12	A functional mutation in the LDLR promoter (-139C>G) in a patient with familial hypercholesterolemia. (17625505)	Smith A.J.... Humphries S.E.	2007	LDLR
13	Oxidative stress-mediated platelet CD40 ligand upregulation in patients with hypercholesterolemia: effect of atorvastatin. (17388962)	Pignatelli P.... Violi F.	2007	CD40LG
14	A561C polymorphism of E-selectin is associated with ischemic cerebrovascular disease in the Japanese population without diabetes mellitus and hypercholesterolemia. (16843446)	Hattori H.... Suzuki N.	2006	SELE
15	Plasma-soluble CD40 is related to cholesterol metabolism in patients with moderate hypercholesterolemia. (17012138)	Luomala M.... Lehtimaki T.	2006	CD40
16	Hypercholesterolemia enhances tolerance to lethal sys temic hypoxia in middle-aged mice: possible role of VEGF downregulation in brai n. (16718361)	Xi L.... Kukreja R.C.	2006	HMOX1
17	Comparison of ezetimibe plus simvastatin versus simvastatin monotherapy on atherosclerosis progression in familial hypercholesterolemia. Design and rationale of the Ezetimibe and Simvastatin in Hypercholesterolemia Enhances Atherosclerosis Regression (ENHANCE) trial. (15846260)	Kastelein J.J.... Veltri E.	2005	HMGCR
18	Beyond blood pressure: endothelial protection against hypercholesterolemia by angiotensin II type-1 receptor blockade. (15655121)	Morawietz H.	2005	AGTR1
19	pX gene causes hypercholesterolemia in hypercholesterolemia-resistant BALB/c mice. (16141549)	Koizumi A.... Inoue M.	2005	SOAT2, SOAT1, ABCG5
20	Autosomal recessive hypercholesterolemia in three sisters with phenotypic homozygous familial hypercholesterolemia: diagnostic and therapeutic procedures. (15274677)	Thomas H.P.... Kassner U.	2004	LDLRAP1
21	Efficacy and safety of ezetimibe coadministered with simvastatin in patients with primary hypercholesterolemia: a randomized, double -blind, placebo-controlled trial. (15132403)	Goldberg A.C.... Mitchel Y.B.	2004	APOB
22	Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia. (15359125)	Kim J.H.... Lee S.T.	2004	LDLR
23	Magnitude of HDL cholesterol variation after high-dose atorvastatin is genetically determined at the LDL receptor locus in patients with homozygous familial hypercholesterolemia. (14512370)	Sposito A.C.... Turpin G.	2003	LDLR
24	Discovery of the hepatic canalicular and intestinal cholesterol transporters. New targets for treatment of hypercholesterolemia. (12911117)	Zanlungo S.... Nervi F.	2003	ABCG5, ABCG8
25	Comparison of rosuvastatin versus atorvastatin in pat ients with heterozygous familial hypercholesterolemia. (14636905)	Stein E.A.... Miller E.	2003	APOA1
26	Autosomal recessive hypercholesterolemia protein inte racts with and regulates the cell surface level of Alzheimer's amyloid beta pre cursor protein. (12805363)	Noviello C.... D'Adamio L.	2003	APP, LDLRAP1
27	Comparison of treatment with fluvastatin extended-release 80-mg tablets and immediate-release 40-mg capsules in patients with primary hypercholesterolemia. (12852707)	Isaacsohn J.L.... Gonasun L.	2003	APOA1
28	Altered distribution of platelet-activating factor- acetylhydrolase activity between LDL and HDL as a function of the severity of hypercholesterolemia. (11861667)	Tsimihodimos V.... Elisaf M.	2002	PLA2G7
29	Atorvastatin in low-density lipoprotein apheresis-tre ated patients with homozygous and heterozygous familial hypercholesterolemia. (12145769)	Goldammer A.... Derfler K.	2002	COG2
30	Comparison of apolipoprotein B metabolism in familial defective apolipoprotein B and heterogeneous familial hypercholesterolemia. (11947895)	Gaffney D.... Packard C.J.	2002	LDLR, APOB
31	Sustained long-term improvement of arterial endotheli al function in heterozygous familial hypercholesterolemia patients treated with simvastatin. (11472743)	Alonso R.... Badimon L.	2001	COG2
32	A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32. (10205269)	Varret M.... Boileau C.	1999	PCSK9
33	Significance of soluble P-selectin, von Willebrand factor, and other adhesion molecules in hypercholesterolemia and peripheral artery disease. (10318743)	Blann A.D.... Fijnheer R.	1999	SELP
34	Characterization of a new form of inherited hypercholesterolemia: familial recessive hypercholesterolemia. (10073989)	Zuliani G.... Fellin R.	1999	LDLR
35	LPS-induced cytokine production and expression of beta2-integrins and CD14 by peripheral blood mononuclear cells of patients with homozygous familial hypercholesterolemia. (9863542)	Rovers C.... Stalenhoef A.F.	1998	CD14
36	Two novel and two known low-density lipoprotein receptor gene mutations in German patients with familial hypercholesterolemia. (9452095)	Thiart R.... Kotze M.J.	1998	LDLR
37	The familial hypercholesterolemia regression study: a randomized comparison of therapeutic reduction of both low-density lipoprotein and lipoprotein(a) versus low-density lipoprotein alone. (10225769)	Kitano Y.... Thompson G.R.	1997	COG2
38	Inhibition of thrombin generation by aspirin is blunt ed in hypercholesterolemia. (8696958)	Szczeklik A.... Duplaga M.	1996	F2
39	Treatment of familial hypercholesterolemia in children and adolescents: effect of lovastatin. Canadian Lovastatin in Children Study Group. (8628597)	Lambert M.... Lambert J.	1996	LPA
40	Protein folding and calcium binding defects arising from familial hypercholesterolemia mutations of the LDL receptor. (8784348)	Blacklow S.C.... Kim P.S.	1996	LDLR
41	Elevated levels of lipoprotein (a) in children with familial hypercholesterolemia. (8197753)	Widhalm K.... Genser D.	1994	COG2
42	Efficacy and safety of once-daily vs twice-daily dosing with fluvastatin, a synthetic reductase inhibitor, in primary hypercholesterolemia. (7979841)	Insull W.... Troendle A.J.	1994	HMGCR
43	A novel deletion in the low-density lipoprotein receptor gene in a patient with familial hypercholesterolemia from Petersburg. (8401534)	Mandelshtam M.J.... Gaitskhoki V.S.	1993	LDLR
44	Elevated plasma levels of vascular endothelial cell markers in patients with hypercholesterolemia. (8266915)	Wada H.... Kageyama S.	1993	SERPINE1, HMGCR, THBD
45	A nonsense mutation in the LDL receptor gene leads to familial hypercholesterolemia in the Druze sect. (1734722)	Landsberger D.... Leitersdorf E.	1992	LDLR
46	Hypercholesterolemia in rats with chronic renal insufficiency not aggravated by recombinant human growth hormone. (1473089)	Santos F.... Perkins A.H.	1992	LPL, INS
47	New combined therapy of niceritrol and probucol on he terozygous familial hypercholesterolemia. (2069518)	Yamamoto K.... Sakai T.	1991	APOB
48	Personal experience with lovastatin, a HMG-CoA reduc tase inhibitor (Mevacor, MSD) in the treatment of hypercholesterolemia (1842144)	VaverkovA! H.... TrtkovA! M.	1991	HMGCR
49	Pravastatin vs. probucol in the treatment of hypercholesterolemia. A double-blind study (1953212)	Sienra-PAcrez J.C.... Posadas-Romero C.	1991	HMGCR
50	Diet-induced hypercholesterolemia in mice: prevention by overexpression of LDL receptors. (2244210)	Yokode M.... Goldstein J.L.	1990	LDLR

Genes related to hypercholesterolemia according to GeneCards:

(show top 50)    (show all 235)

id	Symbol	Description	Score	GeneCards Section Context
1	PCSK9	proprotein convertase subtilisin/kexin type 9	11.1	Publications, Aliases & Descriptions, UniProt Related, Summaries
2	LDLR	low density lipoprotein receptor	11.1	Publications, Summaries
3	APOB	apolipoprotein B (including Ag(x) antigen)	11.1	Publications, Summaries
4	APOA2	apolipoprotein A-II	11.1	Summaries, Publications
5	LDLRAP1	low density lipoprotein receptor adaptor protein 1	11.1	Orthologs, Aliases & Descriptions, Publications
6	EPHX2	epoxide hydrolase 2, cytoplasmic	11.1	Publications, Summaries
7	PPP1R17	protein phosphatase 1, regulatory subunit 17	11.1	Publications, Summaries
8	HCHOLA4	hypercholesterolemia, autosomal dominant 4	11.0	Aliases & Descriptions
9	HMGCR	3-hydroxy-3-methylglutaryl-CoA reductase	11.0	Functions, Publications
10	CETP	cholesteryl ester transfer protein, plasma	11.0	Publications
11	ABCA1	ATP-binding cassette, sub-family A (ABC1), member 1	11.0	Publications
12	COG2	component of oligomeric golgi complex 2	11.0	Publications
13	PON2	paraoxonase 2	11.0	Publications
14	CYP7A1	cytochrome P450, family 7, subfamily A, polypeptide 1	11.0	Publications
15	MTTP	microsomal triglyceride transfer protein	11.0	Publications
16	LCAT	lecithin-cholesterol acyltransferase	11.0	Publications
17	APOE	apolipoprotein E	11.0	Publications
18	APOA1	apolipoprotein A-I	11.0	Publications
19	SOAT1	sterol O-acyltransferase 1	11.0	Publications
20	LPA	lipoprotein, Lp(a)	11.0	Publications
21	PON1	paraoxonase 1	11.0	Publications
22	LIPC	lipase, hepatic	11.0	Publications
23	CBS	cystathionine-beta-synthase	11.0	Publications
24	LPL	lipoprotein lipase	11.0	Publications
25	GHR	growth hormone receptor	11.0	Publications
26	ABCG5	ATP-binding cassette, sub-family G (WHITE), member 5	11.0	Publications
27	ABCG8	ATP-binding cassette, sub-family G (WHITE), member 8	11.0	Publications
28	LPXN	leupaxin	11.0	Publications
29	APOA4	apolipoprotein A-IV	11.0	Publications
30	APOC3	apolipoprotein C-III	11.0	Publications
31	FABP2	fatty acid binding protein 2, intestinal	11.0	Publications
32	F7	coagulation factor VII (serum prothrombin conversion accelerator)	11.0	Publications
33	PLA2G7	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	11.0	Publications
34	GPT	glutamic-pyruvate transaminase (alanine aminotransferase)	11.0	Publications
35	FLNB	filamin B, beta	11.0	Publications
36	AGT	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	11.0	Publications
37	AGTR1	angiotensin II receptor, type 1	11.0	Publications
38	LRP1	low density lipoprotein receptor-related protein 1	11.0	Publications
39	ITIH4	inter-alpha-trypsin inhibitor heavy chain family, member 4	11.0	Publications
40	EDN1	endothelin 1	11.0	Publications
41	THBD	thrombomodulin	11.0	Publications
42	VCAM1	vascular cell adhesion molecule 1	11.0	Publications
43	CRP	C-reactive protein, pentraxin-related	11.0	Publications
44	SERPINE1	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	11.0	Publications
45	ADIPOQ	adiponectin, C1Q and collagen domain containing	11.0	Publications
46	KNG1	kininogen 1	11.0	Publications
47	SELE	selectin E	11.0	Publications
48	NOS3	nitric oxide synthase 3 (endothelial cell)	11.0	Publications
49	CD14	CD14 molecule	11.0	Publications
50	EGF	epidermal growth factor	11.0	Publications

Pathways related to hypercholesterolemia according to GeneDecks:

(show top 50)    (show all 71)

id	Pathway	Score	Top Affiliating Genes
1	Statin Pathway, Pharmacodynamics34	12.2	LRP1, LPL, SCARB1, LDLR, LCAT, MTTP
2	Metabolism of lipids and lipoproteins38	11.7	LPL, ABCG1, ABCG5, ABCG8, AGT, NPC1L1
3	Selected targets of HNF110	11.5	CRP, NR1H4, ALB, F8, APOH, ABCA1
4	Fat digestion and absorption20	11.5	FABP2, APOB, APOA4, APOA1, MTTP, SCARB1
5	Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics34	11.1	KNG1, AGTR1, AGT, TGFB1, NOS3, ACE
6	Bile secretion20	11.1	ABCB1, ABCG5, NR1H4, CYP3A4, SLC10A2, ABCG8
7	PPAR signaling pathway20	10.9	PPARA, OLR1, ADIPOQ, CYP27A1, CYP7A1, FABP2
8	ACE Inhibitor Pathway, Pharmacodynamics34	10.8	CTSG, AGTR1
9	Extrinsic Prothrombin Activation Pathway36	10.8	THBD, F10, F2, F3, F7, FGB
10	Selected targets of C/EBPalpha10	10.7	ADIPOQ, CETP, ELANE, CTSG, RETN, TFAP2A
11	Pertussis20	10.6	CD14, C3, CXCL5, C4A, NOS2, TNF
12	ERK Signaling36	10.5	EGF, FBN1, EGFR, TIMP1, TGFB1, CXCL3
13	Transcription_Role of VDR in regulation of genes involved in osteoporosis41	10.5	TNFRSF11B, IL1B, IL6, APOE, IGF1, CALCA
14	Blood Coagulation Cascade36	10.5	F10, FGA, FGB, F9, F8, F7
15	Immune response IL-1 signaling pathway10	10.5	IL1B, IL6, IL8, MAPK14, F3, HMOX1
16	Immune response_IL-1 signaling pathway41	10.4	MAPK14, NOS2, EDN1, TNF, HMOX1, IL8
17	Blood Coagulation Signaling Pathways37	10.4	FGB, GP1BA, F9, F8, F7, F3
18	Chagas disease (American trypanosomiasis)20	10.4	CCL2, SERPINE1, C3, TGFB1, ACE, NOS2
19	Endothelin-1 Signaling Pathway36	10.4	PLA2G2A, EGFR, EDNRA, EDN1, PF4, NOS1
20	PGC1Alpha Pathway36	10.4	MAPK14, PPARA, TNFRSF1B, CCL5, IL8, INSR
21	Leishmaniasis20	10.4	IL1B, TNF, NOS2, ITGAM, C3, TGFB1
22	Selected targets of GCR-alpha10	10.4	THBD, NR3C1, CYP2C19, GHR, SCNN1A, LEP
23	Complement and coagulation cascades20	10.4	VWF, SERPINF2, SERPINE1, CFH, FGA, KNG1
24	African trypanosomiasis20	10.3	APOA1, ICAM1, IL6, IL1B, IL18, HBB
25	MIF Mediated Glucocorticoid Regulation36	10.3	PF4, CD14, IL10, IL18, IL1B, IL6
26	Doxorubicin Pathway, Pharmacokinetics34	10.2	SOD1, ABCB1, NOS1, NOS3, NOS2, XDH
27	MIF Regulation of Innate Immune Cells36	10.2	IL10, CD14, IL18, IL1B, CXCL3, CCL5
28	Regulation of eIF4 and p70S6K36	10.2	EGF, CCL5, MAPK14, IL6, IL18, ITGB3
29	Clopidogrel Pathway, Pharmacokinetics34	10.0	CYP3A5, CES1, CYP2C19, ABCB1, CYP2B6, CYP3A4
30	Akt Signaling36	10.0	ITGAM, CXCL5, CXCL3, PF4, CCL5, TNF
31	Transcription Role of VDR in regulation of genes involved in osteoporosis10	9.9	NR3C1, IL6, TNFRSF11B, IGF1, CALCA, TNF
32	Malaria20	9.9	IL18, CCL2, IL1B, IL6, IL8, ICAM1
33	Phenytoin Pathway, Pharmacokinetics34	9.8	CYP2D6, COMT, CYP2C19, CYP3A5, CYP2B6, CYP2A6
34	Staphylococcus aureus infection20	9.8	ITGB2, IL10, C4A, SELPLG, C3, ITGAM
35	Molecular Mechanisms of Cancer36	9.6	TGFB1, ATM, ITGB2, PF4, CXCL3, TIMP1
36	Biological oxidations38	9.6	CYP1B1, CYP2D6, CYP2C19, CYP2B6, CYP2J2, CYP2A6
37	Metabolic pathways20	9.5	GGT1, CYP2J2, CYP3A5, CYP27A1, CYP2C19, CYP2B6
38	Retinol metabolism10	9.5	CYP2C19, CYP2B6, CYP2A6, CYP1B1, XDH, CYP3A5
39	JAK-STAT Pathway36	9.4	EGFR, AGT, TIMP1, TGFB1, IL2RA, AGTR1
40	Rho Family GTPases36	9.3	ITGAM, PF4, CCL2, TIMP1, TGFB1, CXCL3
41	Antioxidant Action of Vitamin-C36	9.3	CXCL5, TNFRSF1B, IL18, FLNB, CXCL3, TGFB1
42	Retinol metabolism41	9.3	CYP3A4, CYP2A6, CYP2B6, CYP1B1, CYP2D6, CYP3A5
43	Tec Kinases Signaling36	9.2	CCL5, IGF1, TNFRSF1B, PPBP, CCL2, IL8
44	p38 Signaling36	9.2	TNF, TNFRSF1B, PPBP, PF4, EGF, EGFR
45	TGF-Beta Pathway36	9.2	TNFRSF1B, MAPK14, IL2RA, CCL2, IL8, IL6
46	MAPK Family Pathway36	9.2	IGF1, EGFR, TIMP1, IL1B, EGF, IL18
47	PAK Pathway36	9.0	IL18, FGF2, IL10, PF4, TNF, IGF1
48	PPAR Pathway36	9.0	FGF2, MAPK14, TNF, IL2RA, TNFRSF1B, ITGB3
49	Rheumatoid arthritis20	9.0	VEGFA, CXCL5, TNF, ICAM1, CCL2, IL8
50	Cytokine-cytokine receptor interaction20	8.9	VEGFA, IL10, CD40LG, PF4, EGFR, CD40

Compounds related to hypercholesterolemia according to GeneDecks:

(show top 50)    (show all 632)

id	Compound	Score	Top Affiliating Genes
1	gemfibrozil32 9 9	13.4	PIK3C2A, COG2, LPA, LPL, LIPC, CHKA
2	polyacrylamide32	11.0	RBP4, LPA, CHKA, LCAT, CETP, ATM
3	potassium32 9 18 9	13.9	PIK3C2A, COG2, FGA, GPT, ALB, GNB3
4	leucine32	10.7	LRP1, COG2, RBP4, LPA, USF1, SCARB1
5	atp32	10.7	PIK3C2A, LIPC, SCARB1, CHKA, CES1, ATM
6	vitamin-e32	10.7	PIK3C2A, COG2, RBP4, LPA, VCAM1, SCARB1
7	budesonide32 42 9 9	13.6	F2RL1, PTGS1, CYP3A4, NR3C1
8	homocysteine32 18	11.6	PIK3C2A, COG2, RETN, VWF, SELE, SELP
9	cholesterol32 9 18 9	13.5	PIK3C2A, LRP1, COG2, RETN, VWF, PCSK9
10	thromboxane32 18	11.5	PIK3C2A, VWF, SELP, SERPINF2, FGA, APOH
11	azathioprine32 34 9 9	13.5	MTHFR, XDH, CD79A, CDKN2B, CDKN2A, IL10
12	theophylline32 9 18 9	13.4	SELP, LPL, XDH, CD79A, CD40LG, ITGAM
13	ptca32	10.4	PIK3C2A, SELP, SERPINF2, ITGAM, ITGB2, FGA
14	intralipid32	10.4	LPL, LIPC, LEP, LCAT, CETP, APOA1
15	amiodarone32 9 9	12.3	LDLR, F2, HMGCR, CYP3A4, CYP2C19, CYP2D6
16	glibenclamide32 34	11.3	GCG, LIPC, LEP, INS, INSR, APOA1
17	perindopril32 34 9 9	13.2	VWF, SERPINE1, VEGFA, ALB, CRP, PLAT
18	n acetylcysteine32	10.2	VWF, SELE, SELP, VCAM1, ATM, CD79A
19	cilostazol32 42 9 9	13.2	SELP, LPL, VCAM1, CCL2, CANT1, CYP3A4
20	gabexate mesilate32	10.2	SELE, XDH, MMP9, IL10, IL6, IL8
21	ciprofibrate32	10.1	SERPINE1, LPL, LDLR, APOA1, APOB, CAT
22	palmitate32	10.1	GCG, SELE, LIPA, LDLR, CETP, APOA1
23	guanine32 9 18 9	13.0	VWF, GCG, SELE, LPL, USF1, LDLR
24	cysteine32	10.0	LRP1, GCG, RBP4, SELP, SELPLG, LPA
25	heparin32 9 18 9	13.0	PIK3C2A, LRP1, COG2, VWF, GCG, SELPLG
26	n(g)-nitro-l-arginine methyl ester32	9.9	SERPINE1, LEP, XDH, F3, CALCA, OLR1
27	phosphatidylcholine32	9.8	SELE, LPA, LPL, VCAM1, LIPF, LIPC
28	folate32	9.8	VWF, RBP4, SELE, LPA, VCAM1, USF1
29	chloroquine32 34 9 9	12.8	LDLR, CD79A, ITGAM, ITIH4, INSR, IL10
30	egcg32	9.7	LDLR, ITIH4, APP, MAPK14, CCL5, CAT
31	polysulfone32	9.7	VWF, SELP, VCAM1, CD14, ITGAM, ITGB2
32	valproic acid32 34 9 18 9	13.7	COG2, ALB, OTC, CYP1B1, CYP3A4, CYP3A43
33	kininogen32	9.6	VWF, SELP, SERPINF2, SERPINE1, MPO, ITGB2
34	fibrinogen32	9.4	PIK3C2A, COG2, RETN, SELE, SELP, SELPLG
35	epinephrine32 9 18 9	12.4	PIK3C2A, GCG, SELE, SELP, SERPINF2, LEP
36	imidazole32	9.3	GCG, CES1, FGF2, MAPK14, CBS, F10
37	citrate32	9.3	PIK3C2A, SELP, CHKA, CD79A, INSR, FGF2
38	losartan32 34 9 9	12.3	VWF, SELE, SELP, SERPINE1, VCAM1, LEP
39	methotrexate32 34 42 9 9	13.2	PIK3C2A, SELE, SERPINE1, LEP, MTHFR, CD79A
40	warfarin32 34 9 18 9	13.2	PIK3C2A, VWF, SELP, LPA, MTHFR, CD79A
41	alanine32	9.2	PIK3C2A, COG2, RETN, VWF, GCG, RBP4
42	herbimycin a32 42	10.1	SELE, VCAM1, CD14, CD40LG, CD40, ITGB2
43	clonidine32 9 9	11.1	LEP, FGF2, IGF1, GNB3, CALCA, GHR
44	ndga32	8.9	VCAM1, IL1B, IL2RA, APP, ALOX5AP, CAT
45	h2o232	8.3	VWF, LPA, LEP, LDLR, XDH, MPO
46	pdtc32	8.2	SELE, VCAM1, XDH, CD40, MMP9, IL18
47	ibuprofen32 9 18 9	11.0	VCAM1, LEP, IL10, IL1B, IL1RN, IL6
48	glutamate32	7.9	GCG, LEP, CHKA, LDLR, LCAT, MTHFR
49	paclitaxel32 34 9 9	10.6	VEGFA, CDKN2A, CD40, ITGB2, FGF2, IL2RA
50	formaldehyde32 18	8.5	VWF, SELE, SELP, MPO, CD79A, CD40LG

Cellular components related to hypercholesterolemia according to GeneDecks:

(show all 14)

id	Name	GO ID	Score	Top Affiliating Genes
1	high-density lipoprotein particle	GO:034364	11.3	PON1, APOH, APOE, APOA5, APOA2, APOA4
2	very-low-density lipoprotein particle	GO:034361	11.3	APOC2, APOA2, APOA1, LPL, APOB, APOH
3	chylomicron	GO:042627	11.2	APOH, APOE, APOC3, APOA4, APOA5, LPL
4	low-density lipoprotein particle	GO:034362	10.8	PLA2G7, LDLR, APOE, APOC2, APOBR, APOB
5	spherical high-density lipoprotein particle	GO:034366	10.8	PON1, APOA1, APOA2, APOC2, APOC3
6	external side of plasma membrane	GO:009897	9.7	ADA, ACE, ABCG1, VCAM1, VWF, SELP
7	platelet alpha granule lumen	GO:031093	9.7	KNG1, APP, TGFB1, TIMP1, EGF, PF4
8	cell surface	GO:009986	9.7	APOA4, CD93, CD14, LDLR, SCARB1, VCAM1
9	secretory granule	GO:030141	9.6	INS, MPO, VEGFA, IL1B, APOA1, CYBA
10	integral to plasma membrane	GO:005887	9.2	DLL1, CYBB, OLR1, EDNRA, ABCA1, CD40LG
11	endoplasmic reticulum membrane	GO:005789	9.0	SOAT1, PTGS1, HMGCR, GJA1, ALOX5AP, APOB
12	plasma membrane	GO:005886	8.9	F9, ITGB3, ITGB2, ITGAM, CD93, CD40
13	extracellular space	GO:005615	8.1	EGFR, EGF, C4A, EDN3, EDN1, PF4
14	extracellular region	GO:005576	7.9	NPPC, TNFRSF11B, TNFRSF1B, PTX3, DLL1, SST

Biological processes related to hypercholesterolemia according to GeneDecks:

(show top 50)    (show all 69)

id	Name	GO ID	Score	Top Affiliating Genes
1	cholesterol homeostasis	GO:042632	12.3	LCAT, LDLRAP1, LDLR, SCARB1, LIPC, PCSK9
2	lipoprotein metabolic process	GO:042157	12.0	NPC1L1, ABCG1, ABCA1, PPARA, OLR1, LCAT
3	cholesterol efflux	GO:033344	11.6	ABCG8, ABCG5, ABCG1, ABCA1, APOE, APOC3
4	reverse cholesterol transport	GO:043691	11.5	APOC2, APOA4, APOA2, APOA1, CETP, LCAT
5	high-density lipoprotein particle remodeling	GO:034375	11.4	APOA1, APOA2, APOA4, APOC3, APOE, ABCG1
6	low-density lipoprotein particle remodeling	GO:034374	11.4	ABCG1, PLA2G2A, PLA2G7, APOB, APOA2, MPO
7	very-low-density lipoprotein particle remodeling	GO:034372	11.3	LCAT, CETP, LIPC, APOE, APOC2, APOA4
8	phospholipid efflux	GO:033700	11.3	ABCG1, ABCA1, APOE, APOC3, APOC2, APOA4
9	triglyceride homeostasis	GO:070328	11.2	LPL, LIPC, SCARB1, CETP, APOC2, APOA1
10	lipid metabolic process	GO:006629	11.2	LPA, LPL, SCARB1, CHKA, LDLR, LCAT
11	cholesterol metabolic process	GO:008203	11.2	PCSK9, LIPC, SCAP, LEP, LDLR, LDLRAP1
12	positive regulation of cholesterol esterification	GO:010873	11.2	AGTR1, AGT, APOA2, APOA1, APOA4, APOE
13	negative regulation of fibrinolysis	GO:051918	10.9	CPB2, THBD, F2, SERPINF2, SERPINE1, USF1
14	triglyceride metabolic process	GO:006641	10.9	APOE, APOA5, CAT, GPX1, APOC3, APOA2
15	positive regulation of mitosis	GO:045840	10.8	INSR, EGF, EDN3, INS, TNF, IGF1
16	response to lipopolysaccharide	GO:032496	10.6	SELE, NR1H4, ELANE, EDNRA, SELP, MMP9
17	response to glucocorticoid stimulus	GO:051384	10.6	CCL2, IL1RN, IL6, APOA2, CCL5, GOT1
18	positive regulation of protein kinase B signaling cascade	GO:051897	10.5	INSR, F10, TNF, TGFB1, EGFR, F7
19	positive regulation of nitric oxide biosynthetic process	GO:045429	10.5	ESR1, ICAM1, TNF, PTX3, DDAH2, EDN1
20	blood coagulation, intrinsic pathway	GO:007597	10.5	F2, F9, F10, KNG1, GP1BA, APOH
21	fibrinolysis	GO:042730	10.5	F2, GP1BA, SERPINF2, SERPINE1, F12, PLAT
22	negative regulation of macrophage derived foam cell differentiation	GO:010745	10.5	ITGB3, CETP, CRP, ABCA1, ABCG1, ADIPOQ
23	positive regulation of vasodilation	GO:045909	10.4	ADRB2, EPHX2, NPPC, NOS3, NOS1, HMOX1
24	lipopolysaccharide-mediated signaling pathway	GO:031663	10.4	TNF, CCL2, NOS3, TGFB1, MAPK14, IL1B
25	leukocyte tethering or rolling	GO:050901	10.3	SELE, SELP, SELPLG, VCAM1, LEP, TNF
26	anti-apoptosis	GO:006916	10.3	MPO, CCL2, CD40LG, IL10, APOE, GPX1
27	aging	GO:007568	10.3	ADA, TGFB1, TIMP1, VCAM1, SCAP, IL1B
28	cellular response to insulin stimulus	GO:032869	10.2	WDTC1, ADIPOQ, PPARG, CAPN10, GOT1, APOBEC1
29	G-protein coupled receptor signaling pathway	GO:007186	10.2	SST, EDN1, EDNRA, ABCA1, AGT, AGTR1
30	leukocyte cell-cell adhesion	GO:007159	10.2	CCL5, ICAM1, CALCA, CD40LG, VCAM1, SELP
31	response to ethanol	GO:045471	10.1	ADIPOQ, NPPC, ICAM1, SOD1, NOS3, GOT2
32	small molecule metabolic process	GO:044281	10.0	LCAT, LDLR, CHKA, SCARB1, LPL, LPA
33	positive regulation of protein phosphorylation	GO:001934	10.0	ITGB3, VEGFA, CD40, ADIPOQ, C3, TGFB1
34	glucose metabolic process	GO:006006	10.0	LEP, GOT1, GOT2, TNF, PHKA2, PDX1
35	inflammatory response	GO:006954	10.0	SELP, LIPA, CD14, CD40LG, CD40, ITGB2
36	response to heat	GO:009408	10.0	CD14, MMP9, IL1B, SST, NOS1, CPB2
37	platelet degranulation	GO:002576	10.0	TGFB1, SOD1, KNG1, APOA1, APP, IGF1
38	positive regulation of MAP kinase activity	GO:043406	9.8	EDN1, ELANE, TGFB1, EGFR, EDN3, TNF
39	leukocyte migration	GO:050900	9.8	ICAM1, F2, F2RL1, OLR1, ELANE, THBD
40	platelet activation	GO:030168	9.7	SERPINF2, MAPK14, GP1BA, IGF1, F8, F2
41	positive regulation of cell migration	GO:030335	9.7	VEGFA, IRS2, INS, INSR, CCL5, F7
42	xenobiotic metabolic process	GO:006805	9.7	CYP1B1, CYP3A43, PTGS1, CYP7A1, CYP11B2, CYP3A4
43	regulation of blood pressure	GO:008217	9.6	GNB3, NPPC, NPPA, SOD2, SOD1, HBB
44	response to drug	GO:042493	9.5	MMP9, IL10, NPPC, IL1RN, CCL2, CPB2
45	blood coagulation	GO:007596	9.4	FGA, F3, F2, F2RL1, ALB, F10
46	response to hypoxia	GO:001666	8.9	VEGFA, TNF, PPARA, CRP, PLAT, NOS1
47	cellular response to organic cyclic compound	GO:071407	8.9	IL18, IL1B, TGFB1, CCL2, CCL5, ALPL
48	negative regulation of apoptotic process	GO:043066	8.8	INS, LEP, SOD2, TFAP2A, TIMP1, EGFR
49	positive regulation of cell proliferation	GO:008284	8.6	CXCL5, TGFB1, EGFR, EDNRA, EDN3, EDN1
50	positive regulation of transcription from RNA polymerase II promoter	GO:045944	8.3	CDKN2A, SERPINE1, VEGFA, USF1, SERPINF2, CDKN2B

Molecular functions related to hypercholesterolemia according to GeneDecks:

(show all 16)

id	Name	GO ID	Score	Top Affiliating Genes
1	cholesterol transporter activity	GO:017127	11.2	ABCG5, CETP, ABCG1, ABCA1, APOB, APOA4
2	cholesterol binding	GO:015485	11.1	APOA1, CETP, APOA2, APOC3, CRP, ABCA1
3	apolipoprotein binding	GO:034185	10.8	LRP1, PCSK9, LPA, LIPC, SCARB1, ABCA1
4	eukaryotic cell surface binding	GO:043499	10.8	ADIPOQ, APOH, APOA4, FGB, FGA, SERPINF2
5	lipid binding	GO:008289	10.7	LIPF, MTTP, CETP, APOH, PPARA, PTGS1
6	protein heterodimerization activity	GO:046982	10.0	NR3C1, ALOX5AP, CYBA, CYBB, TGFB1, AGTR1
7	hormone activity	GO:005179	9.9	NPPC, GCG, ADIPOQ, SST, RETN, AGT
8	protein homodimerization activity	GO:042803	9.9	CAT, VEGFA, USF1, SCARB1, CHKA, XDH
9	electron carrier activity	GO:009055	9.5	CYP2D6, CYP2C19, CYP2B6, CYP2A6, CYP3A43, CYP3A4
10	iron ion binding	GO:005506	9.4	XDH, CYP2J2, CYP27A1, NOS1, NOS2, NOS3
11	monooxygenase activity	GO:004497	9.4	CYP3A4, CYP3A43, CYP2C19, CYP2D6, CYP3A5, CYP1B1
12	receptor binding	GO:005102	9.3	GJA1, CALCA, CAT, F2RL1, F2, NOS2
13	enzyme binding	GO:019899	9.1	APOB, APOA5, CAT, TGFB1, ACAT1, APOA1
14	heme binding	GO:020037	8.8	HBB, CYBB, CYP4X1, CYP27A1, CYP3A5, CYP2J2
15	heparin binding	GO:008201	8.7	APP, APOE, APOB, APOA5, APOH, CCL2
16	protein binding	GO:005515	7.6	GHR, F3, ICAM1, F8, IGF1, GP1BA