Cholesterol metabolism

Pathway network for the Cholesterol metabolism SuperPath

Sources:

WikiPathways
PharmGKB

Pathways in the Cholesterol metabolism SuperPath

#	Name	Source	Genes
1	Cholesterol metabolism	WikiPathways	ABCA1 ABCB11 ABCG5 ABCG8 ACAT2 ANGPTL3 ANGPTL8 APOA1 APOA2 APOA4 APOB APOC1 APOC2 APOC3 APOE APOH CD36 CETP CIDEB CYP27A1 CYP51A1 CYP7A1 DGAT1 DHCR24 DHCR7 EBP FABP2 FDFT1 FDPS HMGCR HMGCS1 HSD17B7 IDI1 LBR LCAT LDLR LDLRAP1 LIPA LIPC LIPG LPA LPL LRP1 LRPAP1 LSS MGAT1 MSMO1 MTTP MVD MVK MYLIP NPC1L1 NPC2 NSDHL OSBPL5 PCSK9 PLTP PMVK SAR1B SC5D SCARB1 SLC27A4 SOAT1 SORT1 SQLE STAR STARD3 TM7SF2 TSPO VAPA VDAC1 (see all 71) (see less)
2	Enterocyte cholesterol metabolism	WikiPathways	ABCA1 ABCG5 ABCG8 ACAT2 APOA1 APOA4 APOB CD36 CYP51A1 DGAT1 DHCR24 DHCR7 EBP FABP2 FDFT1 FDPS HMGCR HMGCS1 HSD17B7 IDI1 LBR LDLR LSS MGAT1 MSMO1 MTTP MVD MVK NPC1L1 NSDHL PMVK SAR1B SC5D SLC27A4 SQLE TM7SF2 (see all 36) (see less)
3	Metabolic pathway of LDL, HDL and TG, including diseases	WikiPathways	ABCA1 ANXA2 APOA1 APOA2 APOB APOC2 APOE CETP LCAT LDLR LDLRAP1 LPL PCSK9 SCARB1 (see all 14) (see less)
4	Lipid modifying agents Pathway, Pharmacodynamics	PharmGKB	ANGPTL3 APOB LDLR MTTP PCSK9
5	Fatty Acids and Lipoproteins Transport in Hepatocytes	WikiPathways	APOC2 PCSK9 SCARB1 STARD3

Gene overlap in member pathways for Cholesterol metabolism SuperPath

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

#	Symbol	Description	Category	# Related Pathways
1	LDLR	Low Density Lipoprotein Receptor	Protein Coding	4
2	APOB	Apolipoprotein B	Protein Coding	4
3	PCSK9	Proprotein Convertase Subtilisin/Kexin Type 9	Protein Coding	4
4	SCARB1	Scavenger Receptor Class B Member 1	Protein Coding	3
5	MTTP	Microsomal Triglyceride Transfer Protein	Protein Coding	3
6	APOC2	Apolipoprotein C2	Protein Coding	3
7	APOA1	Apolipoprotein A1	Protein Coding	3
8	ABCA1	ATP Binding Cassette Subfamily A Member 1	Protein Coding	3
9	TM7SF2	Transmembrane 7 Superfamily Member 2	Protein Coding	2
10	HSD17B7	Hydroxysteroid 17-Beta Dehydrogenase 7	Protein Coding	2
11	MGAT1	Alpha-1,3-Mannosyl-Glycoprotein 2-Beta-N-Acetylglucosaminyltransferase	Protein Coding	2
12	HMGCS1	3-Hydroxy-3-Methylglutaryl-CoA Synthase 1	Protein Coding	2
13	CYP51A1	Cytochrome P450 Family 51 Subfamily A Member 1	Protein Coding	2
14	CD36	CD36 Molecule (CD36 Blood Group)	Protein Coding	2
15	DGAT1	Diacylglycerol O-Acyltransferase 1	Protein Coding	2
16	SQLE	Squalene Epoxidase	Protein Coding	2
17	ABCG8	ATP Binding Cassette Subfamily G Member 8	Protein Coding	2
18	ABCG5	ATP Binding Cassette Subfamily G Member 5	Protein Coding	2
19	SC5D	Sterol-C5-Desaturase	Protein Coding	2
20	MSMO1	Methylsterol Monooxygenase 1	Protein Coding	2
21	SAR1B	Secretion Associated Ras Related GTPase 1B	Protein Coding	2
22	NSDHL	NAD(P) Dependent 3-Beta-Hydroxysteroid Dehydrogenase NSDHL	Protein Coding	2
23	MVK	Mevalonate Kinase	Protein Coding	2
24	MVD	Mevalonate Diphosphate Decarboxylase	Protein Coding	2
25	LSS	Lanosterol Synthase	Protein Coding	2
26	LPL	Lipoprotein Lipase	Protein Coding	2
27	LCAT	Lecithin-Cholesterol Acyltransferase	Protein Coding	2
28	LBR	Lamin B Receptor	Protein Coding	2
29	ACAT2	Acetyl-CoA Acetyltransferase 2	Protein Coding	2
30	APOE	Apolipoprotein E	Protein Coding	2
31	APOA4	Apolipoprotein A4	Protein Coding	2
32	APOA2	Apolipoprotein A2	Protein Coding	2
33	HMGCR	3-Hydroxy-3-Methylglutaryl-CoA Reductase	Protein Coding	2
34	ANGPTL3	Angiopoietin Like 3	Protein Coding	2
35	LDLRAP1	Low Density Lipoprotein Receptor Adaptor Protein 1	Protein Coding	2
36	FDPS	Farnesyl Diphosphate Synthase	Protein Coding	2
37	FDFT1	Farnesyl-Diphosphate Farnesyltransferase 1	Protein Coding	2
38	FABP2	Fatty Acid Binding Protein 2	Protein Coding	2
39	DHCR24	24-Dehydrocholesterol Reductase	Protein Coding	2
40	DHCR7	7-Dehydrocholesterol Reductase	Protein Coding	2
41	SLC27A4	Solute Carrier Family 27 Member 4	Protein Coding	2
42	STARD3	StAR Related Lipid Transfer Domain Containing 3	Protein Coding	2
43	CETP	Cholesteryl Ester Transfer Protein	Protein Coding	2
44	EBP	EBP Cholestenol Delta-Isomerase	Protein Coding	2
45	PMVK	Phosphomevalonate Kinase	Protein Coding	2
46	IDI1	Isopentenyl-Diphosphate Delta Isomerase 1	Protein Coding	2
47	NPC1L1	NPC1 Like Intracellular Cholesterol Transporter 1	Protein Coding	2
48	LIPG	Lipase G, Endothelial Type	Protein Coding	1
49	ABCB11	ATP Binding Cassette Subfamily B Member 11	Protein Coding	1
50	VDAC1	Voltage Dependent Anion Channel 1	Protein Coding	1
51	TSPO	Translocator Protein	Protein Coding	1
52	STAR	Steroidogenic Acute Regulatory Protein	Protein Coding	1
53	SOAT1	Sterol O-Acyltransferase 1	Protein Coding	1
54	SORT1	Sortilin 1	Protein Coding	1
55	PLTP	Phospholipid Transfer Protein	Protein Coding	1
56	LRPAP1	LDL Receptor Related Protein Associated Protein 1	Protein Coding	1
57	LRP1	LDL Receptor Related Protein 1	Protein Coding	1
58	LPA	Lipoprotein(A)	Protein Coding	1
59	LIPC	Lipase C, Hepatic Type	Protein Coding	1
60	LIPA	Lipase A, Lysosomal Acid Type	Protein Coding	1
61	APOH	Apolipoprotein H	Protein Coding	1
62	APOC3	Apolipoprotein C3	Protein Coding	1
63	APOC1	Apolipoprotein C1	Protein Coding	1
64	MYLIP	Myosin Regulatory Light Chain Interacting Protein	Protein Coding	1
65	CYP27A1	Cytochrome P450 Family 27 Subfamily A Member 1	Protein Coding	1
66	CYP7A1	Cytochrome P450 Family 7 Subfamily A Member 1	Protein Coding	1
67	NPC2	NPC Intracellular Cholesterol Transporter 2	Protein Coding	1
68	VAPA	VAMP Associated Protein A	Protein Coding	1
69	OSBPL5	Oxysterol Binding Protein Like 5	Protein Coding	1
70	ANGPTL8	Angiopoietin Like 8	Protein Coding	1
71	CIDEB	Cell Death Inducing DFFA Like Effector B	Protein Coding	1
72	ANXA2	Annexin A2	Protein Coding	1

Disorders associated with Cholesterol metabolism SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Familial hypercholesterolemia	Enrichment	APOA2, APOB, APOE, LDLR, LDLRAP1, PCSK9	10.77
2	Lipid metabolism disorder	Enrichment	ABCG5, ABCG8, APOE, CETP, LDLR, LIPC	10.52
3	Coronary heart disease 5	Enrichment	ABCA1, ABCG5, ABCG8, APOB, LDLR	10.49
4	Homozygous familial hypercholesterolemia	Enrichment	ABCG5, ABCG8, APOB, LDLR, LDLRAP1, PCSK9	10.44
5	Hypercholesterolemia, familial, 1	Enrichment	APOA2, APOB, LDLR, PCSK9	9.30
6	Hyperlipidemia, familial combined, 3	Enrichment	APOB, LDLR, LPL	8.06
7	Porokeratosis	Enrichment	FDPS, MVD, MVK	7.16
8	Hyperalphalipoproteinemia 1	Enrichment	APOC3, CETP, SCARB1	6.86
9	Hypercholesterolemia, familial, 2	Enrichment	APOB, LDLR	6.49
10	Hyperlipoproteinemia, type iii	Enrichment	APOE, LDLR	6.00
11	Hypercholesterolemia, familial, 4	Enrichment	LDLR, LDLRAP1	5.53
12	Hypoalphalipoproteinemia, primary, 2	Enrichment	ABCA1, APOA1	5.53
13	Hypoalphalipoproteinemia, primary, 1	Enrichment	ABCA1, APOA1	5.23
14	Porokeratosis 1, multiple types	Enrichment	MVK, PMVK	5.16
15	Gallbladder disease 4	Enrichment	ABCG5, ABCG8	5.16
16	Sitosterolemia 1	Enrichment	ABCG5, ABCG8	4.69
17	Sitosterolemia	Enrichment	ABCG5, ABCG8	4.69
18	Linear porokeratosis	Enrichment	MVD, PMVK	4.69
19	Coronary artery anomaly	Enrichment	APOC3, LPL	3.79
20	High density lipoprotein cholesterol level quantitative trait locus 6	Enrichment	SCARB1	3.53
21	Hypercholesterolemia, familial, 3	Enrichment	PCSK9	3.53
22	Abetalipoproteinemia	Enrichment	MTTP	3.43
23	Apolipoprotein c-ii deficiency	Enrichment	APOC2	3.23
24	Familial apolipoprotein c-ii deficiency	Enrichment	APOC2	3.23
25	Abdominal obesity-metabolic syndrome 1	Enrichment	MTTP	3.13
26	Hypobetalipoproteinemia, familial, 1	Enrichment	APOB	3.13
27	Hypobetalipoproteinemia, familial, 2	Enrichment	ANGPTL3	3.13
28	Hypobetalipoproteinemia	Enrichment	APOB	3.13
29	Developmental and epileptic encephalopathy 23	Enrichment	ANGPTL3	3.13
30	Sea-blue histiocyte disease	Enrichment	APOE	2.99
31	Lipoprotein glomerulopathy	Enrichment	APOE	2.99
32	Aapoaii amyloidosis	Enrichment	APOA2	2.99
33	Hypoalphalipoproteinemia	Enrichment	ABCA1	2.99
34	Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia	Enrichment	LDLR	2.96
35	Syndromic x-linked intellectual disability najm type	Enrichment	LDLR	2.96
36	Fish-eye disease	Enrichment	LCAT	2.69
37	Hyperlipoproteinemia, type i	Enrichment	LPL	2.69
38	Tangier disease	Enrichment	ABCA1	2.69
39	Lecithin:cholesterol acyltransferase deficiency	Enrichment	LCAT	2.69
40	Alzheimer disease 3	Enrichment	APOE	2.69
41	Lipase deficiency, combined	Enrichment	LPL	2.69
42	Familial lipoprotein lipase deficiency	Enrichment	LPL	2.69
43	Hypoalphalipoproteinemia, primary, 2, intermediate	Enrichment	APOA1	2.69
44	Amyloidosis, hereditary systemic 3	Enrichment	APOA1	2.69
45	Cowden syndrome 1	Enrichment	LDLR	2.66
46	Porokeratosis 3, multiple types	Enrichment	MVK	2.58
47	Ck syndrome	Enrichment	NSDHL	2.58
48	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	Enrichment	NSDHL	2.58
49	Desmosterolosis	Enrichment	DHCR24	2.58
50	Coronary heart disease 7	Enrichment	CD36	2.58
51	Palmoplantar keratoderma and congenital alopecia 2	Enrichment	LSS	2.58
52	Greenberg dysplasia	Enrichment	LBR	2.58
53	Pelger-huet anomaly	Enrichment	LBR	2.58
54	Rhizomelic skeletal dysplasia with or without pelger-huet anomaly	Enrichment	LBR	2.58
55	Chondrodysplasia punctata 2, x-linked dominant	Enrichment	EBP	2.58
56	Tubulointerstitial kidney disease, autosomal dominant 6	Enrichment	APOA4	2.58
57	Mend syndrome	Enrichment	EBP	2.58
58	Platelet glycoprotein iv deficiency	Enrichment	CD36	2.58
59	Ichthyosis prematurity syndrome	Enrichment	SLC27A4	2.58
60	Mevalonic aciduria	Enrichment	MVK	2.58
61	Porokeratosis 7, multiple types	Enrichment	MVD	2.58
62	Reynolds syndrome	Enrichment	LBR	2.58
63	Acetyl-coa acetyltransferase-2 deficiency	Enrichment	ACAT2	2.58
64	Low density lipoprotein cholesterol level quantitative trait locus 7	Enrichment	NPC1L1	2.58
65	Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome	Enrichment	CYP51A1	2.58
66	Hypotrichosis 14	Enrichment	LSS	2.58
67	Microcephaly, congenital cataract, and psoriasiform dermatitis	Enrichment	MSMO1	2.58
68	Low density lipoprotein cholesterol level quantitative trait locus 3	Enrichment	HMGCR	2.58
69	Muscular dystrophy, limb-girdle, autosomal recessive 28	Enrichment	HMGCR	2.58
70	Nsdhl-related disorders	Enrichment	NSDHL	2.58
71	Alzheimer disease 4	Enrichment	APOE	2.51
72	Spastic paraplegia 50, autosomal recessive	Enrichment	APOA1	2.51
73	Short-rib thoracic dysplasia 1 with or without polydactyly	Enrichment	ABCG5, LBR	2.46
74	Macular degeneration, age-related, 1	Enrichment	APOE	2.38
75	Alzheimer disease 2	Enrichment	APOE	2.29
76	Amyloidosis, hereditary systemic 2	Enrichment	APOA1	2.29
77	Atrophoderma vermiculata	Enrichment	LRP1	2.28
78	Keratosis pilaris atrophicans	Enrichment	LRP1	2.28
79	Hepatic lipase deficiency	Enrichment	LIPC	2.28
80	Low density lipoprotein cholesterol level quantitative trait locus 6	Enrichment	SORT1	2.28
81	High density lipoprotein cholesterol level quantitative trait locus 12	Enrichment	LIPC	2.28
82	Cerebrotendinous xanthomatosis	Enrichment	CYP27A1	2.28
83	Cholesteryl ester storage disease	Enrichment	LIPA	2.28
84	Apolipoprotein c-iii deficiency	Enrichment	APOC3	2.28
85	Wolman disease	Enrichment	LIPA	2.28
86	Lipoprotein quantitative trait locus	Enrichment	LPA	2.28
87	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	Enrichment	CYP7A1	2.28
88	Lysosomal acid lipase deficiency	Enrichment	LIPA	2.28
89	Non-classic congenital lipoid adrenal hyperplasia due to star deficency	Enrichment	STAR	2.28
90	Hyperlipidemia due to hepatic triglyceride lipase deficiency	Enrichment	LIPC	2.28
91	Classic congenital lipoid adrenal hyperplasia due to star deficency	Enrichment	STAR	2.28
92	Alpha-methylacetoacetic aciduria	Enrichment	ACAT2	2.28
93	Chylomicron retention disease	Enrichment	SAR1B	2.28
94	Hyper-igd syndrome	Enrichment	MVK	2.28
95	Methylmalonic aciduria, cblb type	Enrichment	MVK	2.28
96	Porokeratosis 5, disseminated superficial actinic type	Enrichment	MVK	2.28
97	Lathosterolosis	Enrichment	SC5D	2.28
98	Sitosterolemia 2	Enrichment	ABCG5	2.28
99	Squalene synthase deficiency	Enrichment	FDFT1	2.28
100	Alopecia-intellectual disability syndrome 4	Enrichment	LSS	2.28
101	Short-rib thoracic dysplasia 15 with polydactyly	Enrichment	ABCG5	2.28
102	Porokeratosis 9, multiple types	Enrichment	FDPS	2.28
103	Alopecia - intellectual disability syndrome	Enrichment	LSS	2.10
104	Toe syndactyly, telecanthus, and anogenital and renal malformations	Enrichment	STAR	1.98
105	Niemann-pick disease, type c2	Enrichment	NPC2	1.98
106	Cholestasis, progressive familial intrahepatic, 3	Enrichment	ABCB11	1.98
107	Cholestasis, benign recurrent intrahepatic, 2	Enrichment	ABCB11	1.98
108	Cholestasis, progressive familial intrahepatic, 4	Enrichment	ABCB11	1.98
109	Cholestasis, intrahepatic, of pregnancy 3	Enrichment	ABCB11	1.98
110	Cholestasis, progressive familial intrahepatic, 2	Enrichment	ABCB11	1.98
111	Developmental dysplasia of the hip 3	Enrichment	LRP1	1.98
112	Intrahepatic cholestasis	Enrichment	ABCB11	1.98
113	Niemann-pick disease type c, severe perinatal form	Enrichment	NPC2	1.98
114	Niemann-pick disease type c, severe early infantile neurologic onset	Enrichment	NPC2	1.98
115	Niemann-pick disease type c, juvenile neurologic onset	Enrichment	NPC2	1.98
116	Niemann-pick disease type c, adult neurologic onset	Enrichment	NPC2	1.98
117	Niemann-pick disease type c, late infantile neurologic onset	Enrichment	NPC2	1.98
118	Smith-lemli-opitz syndrome	Enrichment	DHCR7	1.98
119	Diarrhea 7, protein-losing enteropathy type	Enrichment	DGAT1	1.98
120	Blood platelet disease	Enrichment	CD36	1.98
121	Cerebral malaria	Enrichment	CD36	1.98
122	Congenital myopathy 3 with rigid spine	Enrichment	HMGCS1	1.88
123	Congenital diarrhea 7 with exudative enteropathy	Enrichment	DGAT1	1.88
124	Alzheimer's disease	Enrichment	APOE	1.87
125	Keratosis follicularis spinulosa decalvans	Enrichment	LRP1	1.81
126	Myopia 23, autosomal recessive	Enrichment	LRPAP1	1.81
127	Diarrhea	Enrichment	DGAT1	1.80
128	Alzheimer disease, familial, 1	Enrichment	APOE	1.76
129	Isolated methylmalonic acidemia	Enrichment	MVK	1.73
130	Intrahepatic cholestasis of pregnancy	Enrichment	ABCB11	1.68
131	Methylmalonic acidemia	Enrichment	MVK	1.68
132	Cardiomyopathy, dilated, 1a	Enrichment	LPL	1.67
133	Limb-girdle muscular dystrophy	Enrichment	HMGCR	1.63
134	Hypotrichosis simplex	Enrichment	LSS	1.63
135	Niemann-pick disease, type c1	Enrichment	NPC2	1.59
136	Niemann-pick disease	Enrichment	NPC2	1.59
137	Familial glucocorticoid deficiency	Enrichment	STAR	1.59
138	Rare isolated myopia	Enrichment	LRPAP1	1.59
139	Progressive familial intrahepatic cholestasis	Enrichment	ABCB11	1.44
140	Autosomal recessive congenital ichthyosis	Enrichment	SLC27A4	1.41
141	Isolated congenital microcephaly	Enrichment	DHCR7	1.38
142	Cataract 44	Enrichment	LSS	1.35
143	Hepatoblastoma	Enrichment	DHCR7	1.27
144	Malaria	Enrichment	CD36	1.23
145	Autoinflammatory disease	Enrichment	MVK	1.21
146	Jeune thoracic dystrophy	Enrichment	LBR	1.19
147	Hydrops fetalis, nonimmune	Enrichment	DHCR24	1.18
148	Lipoid congenital adrenal hyperplasia	Enrichment	STAR	1.15
149	Asphyxiating thoracic dystrophy	Enrichment	LBR	1.14
150	Breast cancer	Enrichment	ABCA1	1.13
151	Non-immune hydrops fetalis	Enrichment	DHCR24	1.10
152	Connective tissue disease	Enrichment	EBP	1.09
153	Type 2 diabetes mellitus	Enrichment	LIPC	0.70
154	Microcephaly	Enrichment	NPC2	0.32
155	Hereditary retinal dystrophy	Enrichment	MVK	0.27
156	Fundus dystrophy	Enrichment	MVK	0.27

¹ WikiPathways

² PubChem

³ R&D Systems

⁴ Reactome

⁵ GeneGo (Thomson Reuters)

⁶ QIAGEN

⁷ PharmGKB

⁸ Cell Signaling Technology

⁹ Sino Biological

¹⁰ Tocris

¹¹ MalaCards

Cholesterol metabolism

Pathway Network for Cholesterol metabolism

Pathway network for the Cholesterol metabolism SuperPath

Member Pathways for Cholesterol metabolism

Pathways in the Cholesterol metabolism SuperPath

Gene overlap in member pathways for Cholesterol metabolism SuperPath

Associated Genes for Cholesterol metabolism

Associated Disorders for Cholesterol metabolism

Disorders associated with Cholesterol metabolism SuperPath

STRING Interaction Network for Cholesterol metabolism

Sources for Cholesterol metabolism