HLPP5
MCID: HYP740
MIFTS: 49

Hyperlipoproteinemia, Type V (HLPP5)

Categories: Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Hyperlipoproteinemia, Type V

MalaCards integrated aliases for Hyperlipoproteinemia, Type V:

Name: Hyperlipoproteinemia, Type V 57 37
Hyperlipoproteinemia Type V 12 76 53 75 55 44 15 73
Familial Type 5 Hyperlipoproteinemia 12 29 6
Hyperchylomicronemia with Hyperprebetalipoproteinemia, Familial 57 53
Hyperchylomicronemia, Late-Onset 57 13
Hyperlipoproteinemia Type 5 53 59
Hyperlipemia, Combined Fat and Carbohydrate-Induced 57
Hyperlipemia Combined Fat and Carbohydrate-Induced 53
Familial Hyperlipoproteinemia Type V 12
Hyperlipidemia, Familial Combined 73
Hyperchylomicronemia Late Onset 53
Hyperlipoproteinemia, Type 5 40
Fredrickson Type V Lipaemia 12
Type V Hyperlipoproteinemia 53
Hyperlipidemia, Type V 57
Hyperlipoproteinemia 5 75
Hyperlipidemia Type V 53
Major Hyperlipidemia 59
Mixed Hyperlipidemia 73
Hyperlipemia, Mixed 57
Hyperlipemia Mixed 53
Mixed Hyperlipemia 53
Hlp Type 5 59
Hlpp5 75

Characteristics:

Orphanet epidemiological data:

59
hyperlipoproteinemia type 5
Inheritance: Multigenic/multifactorial;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hyperlipoproteinemia, type v:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 144650
Disease Ontology 12 DOID:1171
MeSH 44 D006954
NCIt 50 C35645
SNOMED-CT 68 34349009
Orphanet 59 ORPHA70470
ICD10 via Orphanet 34 E78.3
MESH via Orphanet 45 D006954
UMLS via Orphanet 74 C0020481
KEGG 37 H00157

Summaries for Hyperlipoproteinemia, Type V

UniProtKB/Swiss-Prot : 75 Hyperlipoproteinemia 5: Characterized by increased amounts of chylomicrons and very low density lipoprotein (VLDL) and decreased low density lipoprotein (LDL) and high density lipoprotein (HDL) in the plasma after a fast. Numerous conditions cause this phenotype, including insulin-dependent diabetes mellitus, contraceptive steroids, alcohol abuse, and glycogen storage disease type 1A (GSD1A).

MalaCards based summary : Hyperlipoproteinemia, Type V, also known as hyperlipoproteinemia type v, is related to xanthomatosis and tangier disease, and has symptoms including hypertriglyceridemic waist An important gene associated with Hyperlipoproteinemia, Type V is APOA5 (Apolipoprotein A5), and among its related pathways/superpathways are PPAR signaling pathway and Metabolism. The drugs Calcium, Dietary and Anticholesteremic Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and heart, and related phenotypes are diabetes mellitus and decreased hdl cholesterol concentration

Wikipedia : 76 Hyperlipidemia is abnormally elevated levels of any or all lipids or lipoproteins in the blood. It is... more...

Description from OMIM: 144650

Related Diseases for Hyperlipoproteinemia, Type V

Diseases in the Hyperlipoproteinemia, Type Iii family:

Hyperlipoproteinemia, Type Iv Hyperlipoproteinemia, Type V
Hyperlipoproteinemia, Type I Hyperlipoproteinemia, Type Id

Diseases related to Hyperlipoproteinemia, Type V via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 xanthomatosis 29.6 LPL HMGCR APOE APOB
2 tangier disease 29.4 LPL APOE APOB APOA1
3 hyperlipidemia, familial combined 29.2 LPL APOC2 APOB APOA5 APOA1
4 hypertriglyceridemia, familial 28.6 LPL INS APOE APOC2 APOB APOA5
5 recurrent acute pancreatitis 10.1 LPL APOE
6 apolipoprotein c-ii deficiency 10.1 LPL APOC2
7 xanthoma disseminatum 10.0 APOE APOB
8 hypercholesterolemia, autosomal dominant, type b 10.0 APOE APOB
9 lipoprotein glomerulopathy 10.0 APOE APOB
10 huntington disease-like 1 10.0 APOE APOB
11 endocrine pancreas disease 10.0 LPL INS
12 familial lipoprotein lipase deficiency 10.0 LPL APOC2 APOA5
13 schnyder corneal dystrophy 10.0 APOE APOB
14 hemorrhage, intracerebral 10.0 HMGCR APOE
15 sea-blue histiocyte disease 10.0 APOE APOB
16 smith-lemli-opitz syndrome 10.0 HMGCR APOE
17 pancreatitis 10.0 LPL APOC2 APOA5
18 hypertriglyceridemia, transient infantile 10.0
19 hyperlipidemia, combined, 1 10.0 LPL APOB APOA5
20 familial lcat deficiency 9.9 APOE APOA1
21 cerebral atherosclerosis 9.9 APOE APOA1
22 prediabetes syndrome 9.9 INS APOB
23 glycogen storage disease ia 9.9 LPL INS APOC2
24 defective apolipoprotein b-100 9.9 HMGCR APOE APOB
25 homozygous familial hypercholesterolemia 9.9 HMGCR APOE APOB
26 maturity-onset diabetes of the young 9.9 LPL INS APOC2
27 glucose intolerance 9.9 LPL INS APOB
28 dysbaric osteonecrosis 9.9 APOB APOA1
29 hepatic lipase deficiency 9.8 LPL APOE APOA1
30 chronic kidney failure 9.8 INS HMGCR APOB
31 vitamin e, familial isolated deficiency of 9.8 APOB APOA1
32 stroke, ischemic 9.8 HMGCR APOE APOB
33 chylomicron retention disease 9.8 APOB APOA1
34 bardet-biedl syndrome 2 9.8 LPL APOA1
35 sitosterolemia 9.8 HMGCR APOB
36 hyperlipoproteinemia, type iv 9.8 LPL APOC2 APOB APOA5
37 hypoalphalipoproteinemia, primary 9.8 LPL APOB APOA1
38 hypobetalipoproteinemia, familial, 2 9.8 APOA1 LPL APOB
39 leukodystrophy, hypomyelinating, 3 9.7 APOE APOB APOA1
40 arcus corneae 9.7 APOE APOB APOA1
41 coronary stenosis 9.7 APOE APOB APOA1
42 carotid artery disease 9.7 APOE APOB APOA1
43 fetal macrosomia 9.7 INS APOB APOA1
44 inherited metabolic disorder 9.7 INS APOB APOA1
45 acquired metabolic disease 9.7 INS APOB APOA1
46 diabetes mellitus, insulin-dependent 9.6 INS APOB APOA1
47 ischemic heart disease 9.6 LPL APOE APOB APOA1
48 hypolipoproteinemia 9.6 LPL APOE APOB APOA1
49 hyperalphalipoproteinemia 1 9.6 LPL APOE APOB APOA1
50 abetalipoproteinemia 9.6 LPL APOE APOB APOA1

Comorbidity relations with Hyperlipoproteinemia, Type V via Phenotypic Disease Network (PDN):


Benign Essential Hypertension Chronic Myocardial Ischemia
Esophagitis Hypertension, Essential
Hypothyroidism Intermediate Coronary Syndrome
Ischemic Heart Disease Mitral Valve Disease
Peripheral Vascular Disease

Graphical network of the top 20 diseases related to Hyperlipoproteinemia, Type V:



Diseases related to Hyperlipoproteinemia, Type V

Symptoms & Phenotypes for Hyperlipoproteinemia, Type V

Symptoms via clinical synopsis from OMIM:

57
Misc:
multiple causes, including insulin-dependent diabetes mellitus, contraceptive steroids, alcohol abuse, and glycogen storage disease i

Lab:
hyperlipoproteinemia v
increased chylomicrons and vldl
decreased ldl and hdl


Clinical features from OMIM:

144650

Human phenotypes related to Hyperlipoproteinemia, Type V:

32
# Description HPO Frequency HPO Source Accession
1 diabetes mellitus 32 HP:0000819
2 decreased hdl cholesterol concentration 32 HP:0003233
3 increased vldl cholesterol concentration 32 HP:0003362
4 decreased ldl cholesterol concentration 32 HP:0003563
5 increased circulating chylomicron concentration 32 HP:0012238

UMLS symptoms related to Hyperlipoproteinemia, Type V:


hypertriglyceridemic waist

GenomeRNAi Phenotypes related to Hyperlipoproteinemia, Type V according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.43 APOA1 APOA5 APOB APOE HMGCR LPL
2 Increased LDL uptake GR00340-A-1 8.8 APOA1 APOE LPL

MGI Mouse Phenotypes related to Hyperlipoproteinemia, Type V:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.61 APOA1 APOA5 APOB APOC2 APOE CREB3L3
2 liver/biliary system MP:0005370 9.1 APOA1 APOB APOE HMGCR INS LPL

Drugs & Therapeutics for Hyperlipoproteinemia, Type V

Drugs for Hyperlipoproteinemia, Type V (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Calcium, Dietary Phase 4,Phase 3,Not Applicable
2 Anticholesteremic Agents Phase 4,Phase 3,Phase 2,Not Applicable
3 Antimetabolites Phase 4,Phase 3,Phase 2,Not Applicable
4 Lipid Regulating Agents Phase 4,Phase 3,Phase 2,Not Applicable
5 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3,Not Applicable
6 Hypolipidemic Agents Phase 4,Phase 3,Phase 2,Not Applicable
7 Rosuvastatin Calcium Phase 4 147098-20-2
8 Omega 3 Fatty Acid Phase 4
9
Fenofibrate Approved Phase 3,Not Applicable 49562-28-9 3339
10
Nicotinamide Approved, Investigational Phase 3 98-92-0 936
11
Simvastatin Approved Phase 3 79902-63-9 54454
12
Ezetimibe Approved Phase 3 163222-33-1 150311
13
Niacin Approved, Investigational, Nutraceutical Phase 3 59-67-6 938
14
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
15
Torcetrapib Investigational Phase 3 262352-17-0 159325
16 Atorvastatin Calcium Phase 3,Not Applicable 134523-03-8
17 Nicotinic Acids Phase 3
18 Vitamin B3 Phase 3
19 Vitamin B Complex Phase 3
20 Vasodilator Agents Phase 3
21 Vitamin B9 Phase 3
22 Trace Elements Phase 3
23 Vitamins Phase 3
24 Micronutrients Phase 3
25 Folate Phase 3
26
Anacetrapib Investigational Phase 2 875446-37-0
27 Fenofibric acid Approved Not Applicable 42017-89-0

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Effect of Rosuvastatin on Triglyceride Levels in Mexican Hypertriglyceridemic Patients Completed NCT00473655 Phase 4 rosuvastatin
2 Efficacy Study of Daily Pro-Omega LDL for Low-Density Lipoprotein Cholesterol and Triglyceride Reduction Withdrawn NCT02069106 Phase 4
3 Lipid Efficacy and Safety in Participants With Mixed Hyperlipidemia (MK-0524B-024) Completed NCT00289900 Phase 3 MK-0524A;Atorvastatin;Simvastatin
4 Carotid B-mode Ultrasound Study to Compare Anti-Atherosclerotic Effect of Torcetrapib/Atorvastatin to Atorvastatin. Terminated NCT00134238 Phase 3 torcetrapib/atorvastatin;atorvastatin
5 Lipid Efficacy Study (0524B-022)(COMPLETED) Completed NCT00269217 Phase 3 niacin (+) laropiprant (+) simvastatin;Comparator: niacin (+) laropiprant;Comparator: simvastatin
6 Lipid Efficacy/Tolerability Study (0524A-020) Completed NCT00269204 Phase 3 niacin (+) laropiprant;ER-niacin
7 A Study to Evaluate an Investigational Drug in Patients With Mixed Hyperlipidemia (0653A-071)(COMPLETED) Completed NCT00093899 Phase 3 ezetimibe (+) simvastatin
8 Study of Ezetimibe and Fenofibrate in Patients With Mixed Hyperlipidemia (0653-036)(COMPLETED) Completed NCT00092573 Phase 3 MK0653, ezetimibe;Comparator: fenofibrate monotherapy
9 Two Investigational Drugs in Patients With Mixed Hyperlipidemia (0653-036) Completed NCT00092560 Phase 3 MK0653, ezetimibe;Comparator: fenofibrate monotherapy
10 MK0859 Dose-Ranging Study (0859-003) Terminated NCT00325455 Phase 2 MK0859
11 A Pilot Study to Evaluate the Lipid Effects of TRIA-662 Completed NCT02008084 Phase 2 TRIA-662;Placebo
12 Phase 2 Dose-Ranging Efficacy and Safety Trial of SCH 900271 in Participants With Primary Hypercholesterolemia or Mixed Hyperlipidemia (P05675) Completed NCT00941603 Phase 2 SCH 900271 15mg;SCH 900271;SCH 900271;SCH 900271;SCH 900271;Placebo
13 Comparison of the Efficacy and Safety of AtorVastatin mOnotherapy vs. Combination Atorvastatin/Fenofibric Acid Unknown status NCT01974297 Not Applicable Atorvastatin 10mg, fenofibric acid 135mg;atorvastatin 20mg

Search NIH Clinical Center for Hyperlipoproteinemia, Type V

Cochrane evidence based reviews: hyperlipoproteinemia type v

Genetic Tests for Hyperlipoproteinemia, Type V

Genetic tests related to Hyperlipoproteinemia, Type V:

# Genetic test Affiliating Genes
1 Familial Type 5 Hyperlipoproteinemia 29 APOA5

Anatomical Context for Hyperlipoproteinemia, Type V

MalaCards organs/tissues related to Hyperlipoproteinemia, Type V:

41
Liver, Kidney, Heart, Pancreas

Publications for Hyperlipoproteinemia, Type V

Articles related to Hyperlipoproteinemia, Type V:

# Title Authors Year
1
Hyperlipoproteinemia type V and apolipoprotein E4. ( 6126778 )
1982
2
Extremity amputation following radial artery cannulation in a patient with hyperlipoproteinemia type V. ( 7059036 )
1982
3
A case of xanthomatosis and hyperlipoproteinemia type V propably induced by overdosage of insulin. ( 173587 )
1975
4
Hyperlipoproteinemia type V: biochemical observations in two cases. ( 4365209 )
1974
5
Hyperlipoproteinemia type V (a case report). ( 4374435 )
1974

Variations for Hyperlipoproteinemia, Type V

ClinVar genetic disease variations for Hyperlipoproteinemia, Type V:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 APOA5 NM_052968.4(APOA5): c.415C> T (p.Gln139Ter) single nucleotide variant Pathogenic rs121917821 GRCh37 Chromosome 11, 116661530: 116661530
2 APOA5 NM_052968.4(APOA5): c.415C> T (p.Gln139Ter) single nucleotide variant Pathogenic rs121917821 GRCh38 Chromosome 11, 116790814: 116790814

Expression for Hyperlipoproteinemia, Type V

Search GEO for disease gene expression data for Hyperlipoproteinemia, Type V.

Pathways for Hyperlipoproteinemia, Type V

Pathways related to Hyperlipoproteinemia, Type V according to KEGG:

37
# Name Kegg Source Accession
1 PPAR signaling pathway hsa03320

Pathways related to Hyperlipoproteinemia, Type V according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.54 APOA1 APOA5 APOB APOC2 APOE CREB3L3
2
Show member pathways
12.58 APOA1 APOA5 HMGCR LPL
3
Show member pathways
12.33 APOA1 APOB APOC2 APOE LPL
4
Show member pathways
12.13 CREB3L3 HMGCR INS
5
Show member pathways
12.04 APOA1 APOA5 APOB APOC2 APOE CREB3L3
6
Show member pathways
12 APOA1 APOB APOE INS
7
Show member pathways
11.88 APOA1 APOB APOC2 APOE LPL
8 11.76 APOA1 APOA5 APOE
9
Show member pathways
11.65 APOA1 APOB APOE
10 11.48 APOA1 APOA5 LPL
11 11.44 HMGCR INS LPL
12
Show member pathways
11.24 APOA1 APOA5 APOB APOC2 APOE HMGCR
13
Show member pathways
11.23 APOB INS
14
Show member pathways
11.2 APOA1 APOB
15 11.19 APOA1 INS
16 10.94 APOA1 APOA5
17 10.87 APOA1 APOB

GO Terms for Hyperlipoproteinemia, Type V

Cellular components related to Hyperlipoproteinemia, Type V according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.98 APOA1 APOA5 APOB APOC2 APOE INS
2 endoplasmic reticulum lumen GO:0005788 9.8 APOA1 APOA5 APOB APOE INS
3 early endosome GO:0005769 9.78 APOA1 APOB APOC2 APOE
4 high-density lipoprotein particle GO:0034364 9.62 APOA1 APOA5 APOC2 APOE
5 intermediate-density lipoprotein particle GO:0034363 9.56 APOA1 APOB APOC2 APOE
6 extracellular vesicle GO:1903561 9.55 APOA1 APOE
7 low-density lipoprotein particle GO:0034362 9.55 APOA1 APOA5 APOB APOC2 APOE
8 clathrin-coated endocytic vesicle membrane GO:0030669 9.54 APOB APOE
9 endocytic vesicle lumen GO:0071682 9.54 APOA1 APOB APOE
10 endosome lumen GO:0031904 9.52 APOB INS
11 spherical high-density lipoprotein particle GO:0034366 9.51 APOA1 APOC2
12 discoidal high-density lipoprotein particle GO:0034365 9.46 APOA1 APOE
13 chylomicron GO:0042627 9.43 APOA1 APOA5 APOB APOC2 APOE LPL
14 very-low-density lipoprotein particle GO:0034361 9.1 APOA1 APOA5 APOB APOC2 APOE LPL
15 extracellular region GO:0005576 10.04 APOA1 APOA5 APOB APOC2 APOE INS

Biological processes related to Hyperlipoproteinemia, Type V according to GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.99 APOA1 APOA5 APOB APOE INS
2 post-translational protein modification GO:0043687 9.97 APOA1 APOA5 APOB APOE
3 steroid metabolic process GO:0008202 9.92 APOA1 APOB APOE HMGCR
4 cholesterol metabolic process GO:0008203 9.91 APOA1 APOB APOE HMGCR
5 lipid transport GO:0006869 9.91 APOA1 APOA5 APOB APOC2 APOE
6 response to drug GO:0042493 9.89 APOA1 APOC2 LPL
7 receptor-mediated endocytosis GO:0006898 9.88 APOA1 APOB APOE
8 retinoid metabolic process GO:0001523 9.87 APOA1 APOB APOC2 APOE
9 lipid catabolic process GO:0016042 9.86 APOB APOC2 LPL
10 regulation of lipid metabolic process GO:0019216 9.85 APOA1 APOA5 HMGCR
11 cholesterol biosynthetic process GO:0006695 9.83 APOA1 APOA5 APOE HMGCR
12 triglyceride metabolic process GO:0006641 9.81 APOA5 APOE LPL
13 lipoprotein metabolic process GO:0042157 9.8 APOA1 APOA5 APOB APOE
14 cholesterol homeostasis GO:0042632 9.8 APOA1 APOA5 APOB APOC2 APOE LPL
15 high-density lipoprotein particle remodeling GO:0034375 9.79 APOA1 APOC2 APOE
16 high-density lipoprotein particle assembly GO:0034380 9.78 APOA1 APOA5 APOE
17 reverse cholesterol transport GO:0043691 9.78 APOA1 APOA5 APOC2 APOE
18 triglyceride homeostasis GO:0070328 9.77 APOA1 APOA5 APOC2 APOE LPL
19 high-density lipoprotein particle clearance GO:0034384 9.76 APOA1 APOC2 APOE
20 positive regulation of lipid biosynthetic process GO:0046889 9.76 APOA1 APOA5 APOE INS
21 positive regulation of cholesterol esterification GO:0010873 9.75 APOA1 APOA5 APOE
22 chylomicron remnant clearance GO:0034382 9.73 APOB APOC2 APOE
23 phospholipid efflux GO:0033700 9.73 APOA1 APOA5 APOC2 APOE
24 regulation of cholesterol transport GO:0032374 9.72 APOA1 APOA5 APOE
25 negative regulation of MAP kinase activity GO:0043407 9.71 APOE HMGCR
26 regulation of cholesterol biosynthetic process GO:0045540 9.71 APOB HMGCR
27 lipoprotein biosynthetic process GO:0042158 9.71 APOA1 APOB APOE
28 chylomicron assembly GO:0034378 9.71 APOA1 APOB APOC2 APOE
29 cholesterol transport GO:0030301 9.7 APOA1 APOB
30 lipoprotein transport GO:0042953 9.7 APOB APOC2
31 artery morphogenesis GO:0048844 9.7 APOB APOE
32 positive regulation of nitric-oxide synthase activity GO:0051000 9.7 APOE INS
33 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.69 APOB LPL
34 fatty acid homeostasis GO:0055089 9.69 APOE INS
35 low-density lipoprotein particle remodeling GO:0034374 9.69 APOB APOE
36 positive regulation of fatty acid biosynthetic process GO:0045723 9.68 APOA5 APOC2
37 negative regulation of blood vessel diameter GO:0097756 9.68 HMGCR INS
38 positive regulation of lipoprotein lipase activity GO:0051006 9.68 APOA5 APOC2
39 positive regulation of cholesterol storage GO:0010886 9.67 APOB LPL
40 positive regulation of triglyceride catabolic process GO:0010898 9.66 APOA5 APOC2
41 regulation of Cdc42 protein signal transduction GO:0032489 9.66 APOA1 APOE
42 very-low-density lipoprotein particle clearance GO:0034447 9.65 APOB APOE
43 regulation of intestinal cholesterol absorption GO:0030300 9.65 APOA1 APOA5
44 positive regulation of dendritic spine maintenance GO:1902952 9.65 APOE INS
45 triglyceride catabolic process GO:0019433 9.65 APOA1 APOA5 APOB APOE LPL
46 lipoprotein catabolic process GO:0042159 9.64 APOB APOE
47 triglyceride-rich lipoprotein particle remodeling GO:0034370 9.64 APOA5 APOC2
48 positive regulation of very-low-density lipoprotein particle remodeling GO:0010902 9.63 APOA5 APOC2
49 cholesterol efflux GO:0033344 9.55 APOA1 APOA5 APOB APOC2 APOE
50 very-low-density lipoprotein particle remodeling GO:0034372 9.35 APOA1 APOA5 APOC2 APOE LPL

Molecular functions related to Hyperlipoproteinemia, Type V according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.83 APOC2 APOE CREB3L3 HMGCR
2 heparin binding GO:0008201 9.71 APOA5 APOB APOE LPL
3 cholesterol binding GO:0015485 9.61 APOA1 APOA5 APOE
4 phospholipid binding GO:0005543 9.56 APOA1 APOA5 APOB APOE
5 lipid binding GO:0008289 9.55 APOA1 APOA5 APOB APOC2 APOE
6 enzyme activator activity GO:0008047 9.54 APOA5 APOC2
7 lipid transporter activity GO:0005319 9.54 APOA1 APOB APOE
8 lipase binding GO:0035473 9.51 APOA5 APOB
9 low-density lipoprotein particle receptor binding GO:0050750 9.5 APOA5 APOB APOE
10 lipase inhibitor activity GO:0055102 9.49 APOA1 APOC2
11 lipoprotein particle binding GO:0071813 9.48 APOA1 APOE
12 lipoprotein lipase activator activity GO:0060230 9.46 APOA5 APOC2
13 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.13 APOA1 APOA5 APOE
14 cholesterol transporter activity GO:0017127 8.92 APOA1 APOA5 APOB APOE

Sources for Hyperlipoproteinemia, Type V

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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