MCID: FML285
MIFTS: 35

Familial Apolipoprotein C-Ii Deficiency

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Familial Apolipoprotein C-Ii Deficiency

MalaCards integrated aliases for Familial Apolipoprotein C-Ii Deficiency:

Name: Familial Apolipoprotein C-Ii Deficiency 12 15
Hyperlipoproteinemia, Type Ib 12
Hyperlipoproteinemia, Type 1b 12
Familial Apoc-Ii Deficiency 12
Hyperlipoproteinemia Type I 44
C-Ii Anapolipoproteinemia 12
Familial Apoc2 Deficiency 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111418
MeSH 44 D008072
SNOMED-CT 67 33513003
UMLS 71 C0268199 C1720779

Summaries for Familial Apolipoprotein C-Ii Deficiency

Disease Ontology : 12 A familial chylomicronemia syndrome characterized by onset in adolescence or adulthood of hypertriglyceridemia and fasting chylomicronemia that has material basis in homozygous or compound heterozygous mutation in APOC2 on chromosome 19q13.32.

MalaCards based summary : Familial Apolipoprotein C-Ii Deficiency, also known as hyperlipoproteinemia, type ib, is related to apolipoprotein c-ii deficiency and familial lipoprotein lipase deficiency. An important gene associated with Familial Apolipoprotein C-Ii Deficiency is APOC2 (Apolipoprotein C2), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. The drugs Mycophenolic acid and Miconazole have been mentioned in the context of this disorder. Related phenotypes are Decreased free cholesterol and Decreased LDL uptake

Related Diseases for Familial Apolipoprotein C-Ii Deficiency

Diseases related to Familial Apolipoprotein C-Ii Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 apolipoprotein c-ii deficiency 32.8 LPL GPIHBP1 APOC2
2 familial lipoprotein lipase deficiency 30.7 VLDLR PNLIP LPL LMF1 GPIHBP1 APOE
3 hypertriglyceridemia, familial 28.6 LPL CETP APOE APOC3 APOC2 APOB
4 hyperlipoproteinemia, type i 27.3 PNLIP MTTP LPL LMF1 GPIHBP1 CETP
5 xanthoma disseminatum 10.3 APOE APOB
6 defective apolipoprotein b-100 10.3 APOE APOB
7 apolipoprotein c-iii deficiency 10.3 LPL APOC3
8 hypercholesterolemia, familial, 2 10.3 APOE APOB
9 silent myocardial infarction 10.2 APOB APOA1
10 arcus corneae 10.2 APOB APOA1
11 platelet glycoprotein iv deficiency 10.2 LPL APOE APOB
12 xanthomatosis 10.2 LPL APOE APOB
13 cerebral atherosclerosis 10.2 APOE APOB APOA1
14 fetal macrosomia 10.1 APOB APOA1
15 peripheral artery disease 10.1 APOE APOB APOA1
16 splenomegaly 10.1
17 hypoalphalipoproteinemia 10.1 APOA2 APOA1
18 lipoprotein glomerulopathy 10.1 APOE APOB APOA2
19 parametritis 10.1 APOB APOA1
20 familial lcat deficiency 10.1 APOE APOA2 APOA1
21 sitosterolemia 10.1 MTTP APOB APOA1
22 fish-eye disease 10.1 APOA2 APOA1
23 leukodystrophy, hypomyelinating, 3 10.1 APOB APOA2 APOA1
24 hereditary amyloidosis 10.1 APOA2 APOA1
25 generalized atherosclerosis 10.1 PLA2G1B APOE APOB
26 corneal degeneration 10.0 APOB APOA1
27 developmental and epileptic encephalopathy 33 10.0 EEF1A2 EEF1A1
28 cerebrovascular disease 10.0 LPL APOE APOB APOA1
29 cholesterol ester storage disease 10.0 PNLIP GPIHBP1
30 abdominal obesity-metabolic syndrome 1 10.0 MTTP LPL APOB APOA1
31 bile acid malabsorption, primary 9.9 PNLIP MTTP
32 lipase deficiency, combined 9.9 PNLIP LPL LMF1 GPIHBP1
33 homozygous familial hypercholesterolemia 9.9 APOE APOB APOA2 APOA1
34 hepatic lipase deficiency 9.9 PNLIP LPL APOE APOA1
35 aortic atherosclerosis 9.9 LPL CETP APOE
36 amyloidosis, familial visceral 9.9 APOE APOC3 APOC2 APOA2 APOA1
37 lecithin:cholesterol acyltransferase deficiency 9.8 LPL APOE APOB APOA2 APOA1
38 acute dacryocystitis 9.8 PNLIP EEF1A1
39 chylomicron retention disease 9.8 PNLIP MTTP APOB APOA1
40 carotid artery disease 9.8 VLDLR APOE APOB APOA2 APOA1
41 pancreatitis 9.8 PNLIP LPL LMF1 APOC2 APOA5
42 non-alcoholic fatty liver disease 9.7 MTTP LPL APOE APOC3 APOB APOA1
43 acute pancreatitis 9.7 PNLIP PLA2G1B LPL APOC2
44 gallbladder disease 9.7 CETP APOE APOB APOA1
45 hyperlipoproteinemia, type v 9.7 LPL APOE APOC3 APOC2 APOB APOA5
46 coronary stenosis 9.6 LPL CETP APOE APOB APOA1
47 alzheimer disease 2 9.6 CETP APOE
48 peripheral vascular disease 9.6 CETP APOB APOA2 APOA1
49 chronic kidney disease 9.6 LPL CETP APOE APOB APOA1
50 kidney disease 9.6 CETP APOE APOC3 APOB APOA1

Graphical network of the top 20 diseases related to Familial Apolipoprotein C-Ii Deficiency:



Diseases related to Familial Apolipoprotein C-Ii Deficiency

Symptoms & Phenotypes for Familial Apolipoprotein C-Ii Deficiency

GenomeRNAi Phenotypes related to Familial Apolipoprotein C-Ii Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.65 APOC1
2 Decreased LDL uptake GR00340-A-1 8.32 LPL

MGI Mouse Phenotypes related to Familial Apolipoprotein C-Ii Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.8 APOA1 APOA2 APOA5 APOB APOC2 APOD
2 liver/biliary system MP:0005370 9.23 APOA1 APOB APOE LMF1 LPL MTTP

Drugs & Therapeutics for Familial Apolipoprotein C-Ii Deficiency

Drugs for Familial Apolipoprotein C-Ii Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 38)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mycophenolic acid Approved Phase 2, Phase 3 24280-93-1 446541
2
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
3
Clotrimazole Approved, Vet_approved Phase 2, Phase 3 23593-75-1 2812
4
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
5 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
6
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
7
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
8
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
9
Fosamprenavir Approved Phase 3 226700-79-4 131536
10
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
11 Antibiotics, Antitubercular Phase 2, Phase 3
12 Antifungal Agents Phase 2, Phase 3
13 Antitubercular Agents Phase 2, Phase 3
14 Anti-Infective Agents Phase 2, Phase 3
15 Dermatologic Agents Phase 2, Phase 3
16 Anti-Bacterial Agents Phase 2, Phase 3
17 Antirheumatic Agents Phase 2, Phase 3
18 Immunologic Factors Phase 2, Phase 3
19 Cyclosporins Phase 2, Phase 3
20 Immunosuppressive Agents Phase 2, Phase 3
21 Calcineurin Inhibitors Phase 2, Phase 3
22 Anti-Inflammatory Agents Phase 2, Phase 3
23 Hormones Phase 2, Phase 3
24 Methylprednisolone Acetate Phase 2, Phase 3
25 Hormone Antagonists Phase 2, Phase 3
26 glucocorticoids Phase 2, Phase 3
27 Antineoplastic Agents, Hormonal Phase 2, Phase 3
28 Protective Agents Phase 2, Phase 3
29 Gastrointestinal Agents Phase 2, Phase 3
30 Neuroprotective Agents Phase 2, Phase 3
31 Antiemetics Phase 2, Phase 3
32
Orlistat Approved, Investigational Phase 2 96829-58-2 3034010
33 Anti-Obesity Agents Phase 2
34 Lipid Regulating Agents Phase 2
35
Heparin Approved, Investigational 9005-49-6 772 9812414
36 Fibrinolytic Agents
37 Anticoagulants
38 calcium heparin

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 A Study to Determine the Safety and Efficacy in Lipoprotein Lipase-Deficient Subjects After Intramuscular Administration of AMT-011, an Adeno-Associated Viral Vector Expressing Human Lipoprotein LipaseS447X Unknown status NCT01109498 Phase 2, Phase 3 Mycophenolate mofetil;cyclosporine
2 ISIS 304801-CS7 The APPROACH Open Label Study Volanesorsen (ISIS 304801) An Open-Label Study of Volanesorsen Administered Subcutaneously to Patients With Familial Chylomicronemia Syndrome (FCS) Completed NCT02658175 Phase 3 Volanesorsen
3 A Randomized, Double-blind, Placebo Controlled Study to Assess Efficacy, Safety and Tolerability of LCQ908 in Subjects With Familial Chylomicronemia Syndrome Completed NCT01514461 Phase 3 LCQ908;Placebo
4 A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Study of ISIS 304801 Administered Subcutaneously to Patients With Familial Chylomicronemia Syndrome (FCS) Completed NCT02211209 Phase 3 Volanesorsen;Placebo
5 An Open-label Study to Assess the Efficacy and Safety of Alipogene Tiparvovec (AMT-011), Human LPL [S447X], Expressed by an Adeno-Associated Viral Vector After Intramuscular Administration in LPL-deficient Adult Subjects Completed NCT00891306 Phase 2, Phase 3 mycophenolate mofetil;cyclosporine;methylprednisolone
6 A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Study of AKCEA-APOCIII-LRx Administered Subcutaneously to Patients With Familial Chylomicronemia Syndrome (FCS) Recruiting NCT04568434 Phase 3 AKCEA-APOCIII-LRx;Placebo
7 An Open Label, 52-week, Safety and Tolerability Extension to a Randomized, Double-blind, Placebo Controlled Study of LCQ908 in Subjects With Familial Chylomicronemia Syndrome. Terminated NCT01589237 Phase 3 LCQ908
8 A Phase 2 Pilot Study to Assess the Safety and Efficacy of CAT-2003 in Patients With Chylomicronemia Completed NCT02098278 Phase 2 CAT-2003;Placebo
9 A Phase 2 Open-Label Study to Assess the Pharmacodynamics, Pharmacokinetics, Safety and Tolerability of AKCEA-ANGPTL3-LRx (ISIS 703802) Administered Subcutaneously to Patients With Familial Chylomicronemia Syndrome (FCS) Completed NCT03360747 Phase 2 AKCEA-ANGPTL3-LRx
10 Orlistat for the Treatment of Type I Hyperlipoproteinemia Active, not recruiting NCT02767531 Phase 2 Orlistat
11 An Open Label, Multi-centre Trial of Alipogene Tiparvovec for the Treatment of LPLD Patients Withdrawn NCT02904772 Phase 2 alipogene tiparvovec;Prednisolone;Cyclosporins;Mycophenolate mofetil
12 A Phase 1 Single and Multiple Dose-Escalating Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamic Effects of ARO-APOC3 in Adult Healthy Volunteers as Well as in Severely Hypertriglyceridemic Patients and Patients With Familial Chylomicronemia Syndrome Active, not recruiting NCT03783377 Phase 1 ARO-APOC3;sterile normal saline (0.9% NaCl)
13 A Clinical Records Review Study of the Frequency and Severity of Acute Abdominal "Pancreatitis" Episodes Reported From LPLD Subjects Previously Recruited to Clinical Studies PREPARATION-02, CT-AMT-011-01 and CT-AMT-011-02 Unknown status NCT01448577
14 Lipoprotein Lipase Enzyme Activity Assay Validation and Clinical Assessment Completed NCT02656095 Heparin
15 InFocus France Epidemiological Study of Health Burden in Major Hypertriglyceridemia Completed NCT04223908
16 Medical Complications in Familial and Multifactorial Chylomicronaemia Syndromes From a 10 Year Follow-up Linking Datasets Between Patient Medical Records and Patient Claims: the ESTHYM Study Completed NCT03912181
17 Postprandial Fatty Acid Metabolism in Subjects With Lipoprotein Lipase Deficiency Recruiting NCT04227678 Heparin
18 Glybera Registry, Long-term Safety and Efficacy Follow-up in Lipoprotein Lipase Deficient (LPLD) Patients Treated With Alipogene Tiparvovec (GLYBERA®) Active, not recruiting NCT03293810
19 BioHoFH - Biomarker for Homozygous Familial Hypercholesterolemia AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT03198897
20 Volanesorsen (ISIS 304801) Early Access Program for Patients With Familial Chylomicronemia Syndrome (FCS) Available NCT03544060 Volanesorsen
21 Prospective, Non-interventional, Non-randomised, Open-label, Adult Study to Assess the Long Term Biological Therapeutic Response to Alipogene Tiparvovec in Lipoprotein Lipase Deficiency (LPLD) and Comparing Postprandial Chylomicron Metabolism Following a Radiolabeled Meal in LPLD Subjects Previously Treated With Alipogene Tiparvovec (Studies CT-AMT-011-01 or -02) to Untreated LPLD Subjects (Study PREPARATION-02) and to Healthy Volunteers Terminated NCT01447901

Search NIH Clinical Center for Familial Apolipoprotein C-Ii Deficiency

Cochrane evidence based reviews: hyperlipoproteinemia type i

Genetic Tests for Familial Apolipoprotein C-Ii Deficiency

Anatomical Context for Familial Apolipoprotein C-Ii Deficiency

Publications for Familial Apolipoprotein C-Ii Deficiency

Articles related to Familial Apolipoprotein C-Ii Deficiency:

# Title Authors PMID Year
1
[Primary hyperchylomicronemia]. 61
24205717 2013
2
[Chylomicronemia syndrome]. 61
11905095 2002
3
Severe hypertriglyceridemia, large lipoproteins and protection against atherosclerosis. 61
3474772 1987
4
Apolipoprotein and lipoprotein concentrations in familial apolipoprotein C-II deficiency. 61
7138621 1982
5
Familial type I hyperlipoproteinemia caused by apolipoprotein C-II deficiency. 61
227429 1979

Variations for Familial Apolipoprotein C-Ii Deficiency

Expression for Familial Apolipoprotein C-Ii Deficiency

Search GEO for disease gene expression data for Familial Apolipoprotein C-Ii Deficiency.

Pathways for Familial Apolipoprotein C-Ii Deficiency

Pathways related to Familial Apolipoprotein C-Ii Deficiency according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.92 VLDLR PNLIP PLA2G1B MTTP LPL LMF1
2
Show member pathways
12.52 PNLIP LPL GPIHBP1 APOE APOC3 APOC2
3
Show member pathways
12.14 PNLIP LPL GPIHBP1 APOE APOC3 APOC2
4
Show member pathways
12.03 VLDLR PNLIP MTTP LPL LMF1 GPIHBP1
5 11.9 PLA2G1B APOE APOA5 APOA1
6
Show member pathways
11.77 MTTP LPL CETP APOE APOC3 APOC2
7
Show member pathways
11.72 APOE APOB APOA1
8 11.68 LPL APOC3 APOA5 APOA2 APOA1
9 11.44 HBS1L EEF1A2 EEF1A1
10
Show member pathways
11.38 PNLIP PLA2G1B MTTP APOB APOA1
11 11.15 APOC3 APOA5 APOA2 APOA1
12 11.03 PNLIP APOB APOA1
13 10.91 APOD APOA2 APOA1

GO Terms for Familial Apolipoprotein C-Ii Deficiency

Cellular components related to Familial Apolipoprotein C-Ii Deficiency according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 10.25 VLDLR PNLIP PLA2G1B LPL EEF1A1 CETP
2 extracellular region GO:0005576 10.24 PNLIP PLA2G1B LPL GPIHBP1 EEF1A1 CETP
3 extracellular exosome GO:0070062 10.2 HBS1L EEF1A1 CETP APOE APOD APOC3
4 early endosome GO:0005769 10 APOE APOC3 APOC2 APOB APOA5 APOA2
5 endoplasmic reticulum lumen GO:0005788 9.95 MTTP APOE APOB APOA5 APOA2 APOA1
6 high-density lipoprotein particle GO:0034364 9.76 CETP APOE APOC2 APOC1 APOB APOA5
7 low-density lipoprotein particle GO:0034362 9.72 APOE APOC2 APOB APOA5 APOA1
8 spherical high-density lipoprotein particle GO:0034366 9.71 APOC3 APOC2 APOA2 APOA1
9 endocytic vesicle lumen GO:0071682 9.67 APOE APOB APOA1
10 intermediate-density lipoprotein particle GO:0034363 9.65 APOE APOC3 APOC2 APOB APOA1
11 chylomicron GO:0042627 9.61 LPL APOE APOC3 APOC2 APOC1 APOB
12 cytoplasmic side of lysosomal membrane GO:0098574 9.54 EEF1A2 EEF1A1
13 eukaryotic translation elongation factor 1 complex GO:0005853 9.52 EEF1A2 EEF1A1
14 discoidal high-density lipoprotein particle GO:0034365 9.51 APOE APOA1
15 very-low-density lipoprotein particle GO:0034361 9.32 VLDLR LPL APOE APOC3 APOC2 APOC1

Biological processes related to Familial Apolipoprotein C-Ii Deficiency according to GeneCards Suite gene sharing:

(show top 50) (show all 72)
# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 10.11 APOE APOB APOA5 APOA2 APOA1
2 lipid catabolic process GO:0016042 10.1 PNLIP PLA2G1B LPL APOC3 APOC2 APOB
3 cellular protein metabolic process GO:0044267 10.09 APOE APOB APOA5 APOA2 APOA1
4 cholesterol metabolic process GO:0008203 10.08 VLDLR CETP APOE APOB APOA2 APOA1
5 steroid metabolic process GO:0008202 10.07 VLDLR CETP APOE APOB APOA1
6 triglyceride homeostasis GO:0070328 10.06 LPL GPIHBP1 CETP APOE APOC3 APOC2
7 chylomicron assembly GO:0034378 10.05 MTTP APOE APOC3 APOC2 APOB APOA2
8 intermembrane lipid transfer GO:0120009 10.04 MTTP CETP APOE APOB APOA2 APOA1
9 high-density lipoprotein particle remodeling GO:0034375 10.04 CETP APOE APOC3 APOC2 APOC1 APOA2
10 lipoprotein metabolic process GO:0042157 10.03 MTTP APOE APOC3 APOC1 APOB APOA5
11 receptor-mediated endocytosis GO:0006898 10.02 VLDLR APOE APOB APOA1
12 phospholipid efflux GO:0033700 10.02 APOE APOC3 APOC2 APOC1 APOA5 APOA2
13 reverse cholesterol transport GO:0043691 10.01 CETP APOE APOC3 APOC2 APOA2 APOA1
14 chylomicron remodeling GO:0034371 10.01 LPL GPIHBP1 APOE APOC3 APOC2 APOB
15 very-low-density lipoprotein particle remodeling GO:0034372 10 LPL CETP APOE APOC2 APOA5 APOA1
16 low-density lipoprotein particle remodeling GO:0034374 9.97 MTTP CETP APOE APOB APOA2
17 cholesterol efflux GO:0033344 9.97 APOE APOC3 APOC2 APOC1 APOB APOA5
18 triglyceride metabolic process GO:0006641 9.97 MTTP LPL LMF1 CETP APOE APOC3
19 triglyceride catabolic process GO:0019433 9.96 LPL APOC3 APOB APOA5
20 positive regulation of cholesterol esterification GO:0010873 9.96 APOE APOC1 APOA5 APOA2 APOA1
21 chylomicron remnant clearance GO:0034382 9.95 APOE APOC3 APOC2 APOC1 APOB
22 cholesterol transport GO:0030301 9.94 CETP APOB APOA2 APOA1
23 phosphatidylcholine metabolic process GO:0046470 9.93 PLA2G1B CETP APOA5 APOA1
24 high-density lipoprotein particle assembly GO:0034380 9.92 APOE APOA5 APOA2 APOA1
25 regulation of lipid metabolic process GO:0019216 9.91 APOA5 APOA2 APOA1
26 phospholipid metabolic process GO:0006644 9.91 PLA2G1B LPL APOA1
27 very-low-density lipoprotein particle assembly GO:0034379 9.91 MTTP APOC3 APOC1 APOB
28 retinoid metabolic process GO:0001523 9.91 PNLIP LPL GPIHBP1 APOE APOC3 APOC2
29 positive regulation of lipoprotein lipase activity GO:0051006 9.9 GPIHBP1 APOC2 APOA5 APOA1
30 cholesterol homeostasis GO:0042632 9.9 MTTP LPL GPIHBP1 CETP APOE APOC3
31 phospholipid transport GO:0015914 9.89 MTTP CETP APOA1
32 high-density lipoprotein particle clearance GO:0034384 9.89 APOE APOC2 APOA2 APOA1
33 very-low-density lipoprotein particle clearance GO:0034447 9.88 VLDLR APOE APOC1 APOB
34 translational elongation GO:0006414 9.87 HBS1L EEF1A2 EEF1A1
35 negative regulation of lipid catabolic process GO:0050995 9.86 APOC3 APOC1 APOA2
36 positive regulation of lipid biosynthetic process GO:0046889 9.86 APOE APOA5 APOA1
37 positive regulation of fatty acid biosynthetic process GO:0045723 9.86 APOC2 APOA5 APOA1
38 regulation of lipoprotein lipase activity GO:0051004 9.85 LPL LMF1 GPIHBP1
39 positive regulation of triglyceride catabolic process GO:0010898 9.85 APOC2 APOA5 APOA1
40 negative regulation of receptor-mediated endocytosis GO:0048261 9.85 APOC3 APOC2 APOC1
41 regulation of Cdc42 protein signal transduction GO:0032489 9.84 APOE APOC3 APOA1
42 negative regulation of lipid metabolic process GO:0045833 9.84 APOC3 APOC2 APOC1
43 lipoprotein biosynthetic process GO:0042158 9.83 APOE APOB APOA1
44 negative regulation of cholesterol transport GO:0032375 9.83 APOC2 APOC1 APOA2
45 negative regulation of very-low-density lipoprotein particle clearance GO:0010916 9.82 APOC3 APOC2 APOC1
46 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.82 APOC3 APOA2 APOA1
47 triglyceride-rich lipoprotein particle remodeling GO:0034370 9.81 APOC2 APOA5 APOA2
48 positive regulation of cholesterol efflux GO:0010875 9.75 APOE APOA1
49 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.74 LPL APOB
50 response to reactive oxygen species GO:0000302 9.74 APOE APOD

Molecular functions related to Familial Apolipoprotein C-Ii Deficiency according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.98 PLA2G1B LPL APOE APOA2 APOA1
2 lipid binding GO:0008289 9.96 MTTP GPIHBP1 CETP APOE APOD APOC3
3 phospholipid binding GO:0005543 9.93 APOE APOC3 APOB APOA5 APOA2 APOA1
4 heparin binding GO:0008201 9.88 LPL APOE APOB APOA5
5 cholesterol binding GO:0015485 9.85 CETP APOD APOC3 APOA5 APOA2 APOA1
6 phosphatidylcholine binding GO:0031210 9.8 CETP APOC1 APOA5 APOA2 APOA1
7 lipid transporter activity GO:0005319 9.8 MTTP APOE APOD APOB APOA2 APOA1
8 lipoprotein particle binding GO:0071813 9.73 LPL GPIHBP1 APOE APOA1
9 translation elongation factor activity GO:0003746 9.71 HBS1L EEF1A2 EEF1A1
10 low-density lipoprotein particle receptor binding GO:0050750 9.7 APOE APOB APOA5
11 apolipoprotein binding GO:0034185 9.69 VLDLR MTTP LPL
12 lipase binding GO:0035473 9.67 GPIHBP1 APOB APOA5
13 high-density lipoprotein particle receptor binding GO:0070653 9.65 APOC3 APOA2 APOA1
14 intermembrane cholesterol transfer activity GO:0120020 9.63 MTTP CETP APOE APOB APOA2 APOA1
15 high-density lipoprotein particle binding GO:0008035 9.61 APOA2 APOA1
16 lipase activity GO:0016298 9.61 PNLIP LPL
17 heparan sulfate proteoglycan binding GO:0043395 9.6 LPL APOE
18 phospholipid transporter activity GO:0005548 9.59 MTTP CETP
19 triglyceride binding GO:0017129 9.57 LPL CETP
20 lipoprotein lipase activator activity GO:0060230 9.56 APOC2 APOA5
21 apolipoprotein receptor binding GO:0034190 9.55 APOA2 APOA1
22 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.35 APOE APOC1 APOA5 APOA2 APOA1
23 lipase inhibitor activity GO:0055102 9.02 APOC3 APOC2 APOC1 APOA2 APOA1

Sources for Familial Apolipoprotein C-Ii Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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