Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | APOC3 | Human | apolipoprotein C-III deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Apolipoprotein c-III deficiency | ClinVar | PMID:24941081 | APOC3 | Human | apolipoprotein C-III deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hyperalphalipoproteinemia 2 | ClinVar | PMID:25741868 and PMID:28492532 | APOC3 | Human | apolipoprotein C-III deficiency | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Apolipoprotein c-III deficiency | ClinVar | | APOC3 | Human | apolipoprotein C-III deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hyperalphalipoproteinemia 2 | ClinVar | PMID:23701270 more ... | APOC3 | Human | apolipoprotein C-III deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hyperalphalipoproteinemia 2 | ClinVar | PMID:11060345 more ... | APOC3 | Human | apolipoprotein C-III deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Apolipoprotein c-III deficiency | ClinVar | PMID:19074352 more ... | APOC3 | Human | apolipoprotein C-III deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Apolipoprotein c-III deficiency | ClinVar | PMID:2022742 | APOC3 | Human | CD3epsilon deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: CD3epsilon deficiency | ClinVar | PMID:28492532 | APOC3 | Human | chromosome 11 partial duplication syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Distal trisomy 11q | ClinVar | PMID:25741868 | APOC3 | Human | Coronary Disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Coronary heart disease | ClinVar | PMID:23701270 more ... | APOC3 | Human | Coronary Disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Coronary heart disease | ClinVar | PMID:11060345 more ... | APOC3 | Human | Coronary Disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Coronary heart disease | ClinVar | PMID:19074352 more ... | APOC3 | Human | Coronary Disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Coronary heart disease | ClinVar | PMID:24941081 | APOC3 | Human | Dwarfism | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Short stature | ClinVar | PMID:32581362 | APOC3 | Human | immunodeficiency 17 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 17 and CD3 gamma deficient | ClinVar | PMID:28492532 | APOC3 | Human | immunodeficiency 18 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 18 | ClinVar | PMID:28492532 | APOC3 | Human | immunodeficiency 19 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 19 | ClinVar | PMID:28492532 | APOC3 | Human | inflammatory bowel disease 28 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inflammatory bowel disease 28 | ClinVar | PMID:28492532 | APOC3 | Human | intellectual disability | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | | APOC3 | Human | isolated microphthalmia 5 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar | PMID:28492532 | APOC3 | Human | myocardial infarction | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myocardial infarction and susceptibility to | ClinVar | PMID:25741868 | APOC3 | Human | nephronophthisis 15 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Nephronophthisis 15 | ClinVar | PMID:22863007 more ... | APOC3 | Human | primary hypoalphalipoproteinemia 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Apolipoprotein A-I deficiency | ClinVar | PMID:2506176 and PMID:6800349 | APOC3 | Human | RASopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RASopathy | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Apolipoprotein A-I, A-II, B, C-II, and C-III in children with insulin-dependent diabetes mellitus. | al Muhtaseb N, etal., Pediatrics. 1992 May;89(5 Pt 1):936-41. |
| 2. | The genetic association database. | Becker KG, etal., Nat Genet. 2004 May;36(5):431-2. |
| 3. | Concurrent fatty liver increases risk of hepatocellular carcinoma among patients with chronic hepatitis B. | Chan AW, etal., J Gastroenterol Hepatol. 2017 Mar;32(3):667-676. doi: 10.1111/jgh.13536. |
| 4. | Serum apolipoproteins C-I and C-III are reduced in stomach cancer patients: results from MALDI-based peptidome and immuno-based clinical assays. | Cohen M, etal., PLoS One. 2011 Jan 18;6(1):e14540. doi: 10.1371/journal.pone.0014540. |
| 5. | Complex genetic contribution of the Apo AI-CIII-AIV gene cluster to familial combined hyperlipidemia. Identification of different susceptibility haplotypes. | Dallinga-Thie GM, etal., J Clin Invest. 1997 Mar 1;99(5):953-61. |
| 6. | Impact of APOA5/A4/C3 genetic polymorphisms on lipid variables and cardiovascular disease risk in French men. | Dallongeville J, etal., Int J Cardiol. 2006 Jan 13;106(2):152-6. |
| 7. | Apolipoprotein C3 deficiency results in diet-induced obesity and aggravated insulin resistance in mice. | Duivenvoorden I, etal., Diabetes. 2005 Mar;54(3):664-71. |
| 8. | Increased apolipoprotein C-III levels associated with insulin resistance contribute to dyslipidemia in normoglycemic and diabetic subjects from a triethnic population. | Florez H, etal., Atherosclerosis. 2006 Sep;188(1):134-41. Epub 2005 Nov 18. |
| 9. | ApoC-III deficiency prevents hyperlipidemia induced by apoE overexpression. | Gerritsen G, etal., J Lipid Res. 2005 Jul;46(7):1466-73. Epub 2005 May 1. |
| 10. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
| 11. | Antisense oligonucleotide inhibition of apolipoprotein C-III reduces plasma triglycerides in rodents, nonhuman primates, and humans. | Graham MJ, etal., Circ Res. 2013 May 24;112(11):1479-90. doi: 10.1161/CIRCRESAHA.111.300367. Epub 2013 Mar 29. |
| 12. | Association of a DNA polymorphism in the apolipoprotein C-III gene with diverse hyperlipidaemic phenotypes. | Henderson HE, etal., Hum Genet. 1987 Jan;75(1):62-5. |
| 13. | Susceptibility to type 1 diabetes is associated with ApoCIII gene haplotypes. | Hokanson JE, etal., Diabetes. 2006 Mar;55(3):834-8. |
| 14. | Lowering apolipoprotein CIII delays onset of type 1 diabetes. | Holmberg R, etal., Proc Natl Acad Sci U S A. 2011 Jun 28;108(26):10685-9. doi: 10.1073/pnas.1019553108. Epub 2011 Jun 13. |
| 15. | Lipoprotein composition in insulin-dependent diabetes mellitus with chronic renal failure: effect of kidney and pancreas transplantation. | Hughes TA, etal., Metabolism. 1994 Mar;43(3):333-47. |
| 16. | Elevated levels of multiple biomarkers of Alzheimer's disease in the aqueous humor of eyes with open-angle glaucoma. | Inoue T, etal., Invest Ophthalmol Vis Sci. 2013 Aug 9;54(8):5353-8. doi: 10.1167/iovs.13-12245. |
| 17. | Role of ApoCs in lipoprotein metabolism: functional differences between ApoC1, ApoC2, and ApoC3. | Jong MC, etal., Arterioscler Thromb Vasc Biol. 1999 Mar;19(3):472-84. |
| 18. | Pattern of hyperlipoproteinemia in human nephrotic syndrome: influence of renal failure and diabetes mellitus. | Joven J, etal., Nephron. 1993;64(4):565-9. |
| 19. | Effect of bile duct obstruction on the expression of intestinal mRNA related to cholesterol and bile acid metabolism in the rat. | Kamisako T and Ogawa H, J Gastroenterol Hepatol. 2007 Jan;22(1):125-31. |
| 20. | Lack of association between genetic variations of apo A-I-C-III-A-IV gene cluster and myocardial infarction in a sample of European male: ECTIM study. | Kee F, etal., Atherosclerosis. 1999 Jul;145(1):187-95. |
| 21. | Severely modified lipoprotein properties without a change in cholesteryl ester transfer protein activity in patients with acute renal failure secondary to Hantaan virus infection. | Kim J, etal., BMB Rep. 2010 Aug;43(8):535-40. |
| 22. | Apolipoprotein C-III protein concentrations and gene polymorphisms in Type 1 diabetes: associations with microvascular disease complications in the DCCT/EDIC cohort. | Klein RL, etal., J Diabetes Complications. 2005 Jan-Feb;19(1):18-25. |
| 23. | Nihon Ronen Igakkai zasshi. Japanese journal of geriatrics | Konemori G, etal., Nippon Ronen Igakkai Zasshi. 1990 Jan;27(1):22-7. |
| 24. | Oxidative stress and inflammation in renal patients and healthy subjects. | Lee DM, etal., PLoS One. 2011;6(7):e22360. doi: 10.1371/journal.pone.0022360. Epub 2011 Jul 28. |
| 25. | Role of thyroid hormone in the expression of apolipoprotein A-IV and C-III genes in rat liver. | Lin-Lee YC, etal., J Lipid Res. 1993 Feb;34(2):249-59. |
| 26. | Serum Protein KNG1, APOC3, and PON1 as Potential Biomarkers for Yin-Deficiency-Heat Syndrome. | Liu C, etal., Evid Based Complement Alternat Med. 2016;2016:5176731. doi: 10.1155/2016/5176731. Epub 2016 Oct 24. |
| 27. | Association of Sst I polymorphism in apolipoprotein C3 gene with hypertriglyceridaemia in coronary atherosclerotic heart disease and type II diabetes mellitus in Chinese population. | Liu HK, etal., Yi Chuan Xue Bao. 2005 Jan;32(1):11-8. |
| 28. | Identification and Validation of Stage-Associated Serum Biomarkers in Colorectal Cancer Using MS-Based Procedures. | MarÃn-Vicente C, etal., Proteomics Clin Appl. 2020 Jan;14(1):e1900052. doi: 10.1002/prca.201900052. Epub 2019 Sep 18. |
| 29. | APOC3 Promoter Polymorphisms C-482T and T-455C Are Associated with the Metabolic Syndrome. | Miller M, etal., Arch Med Res. 2007 May;38(4):444-51. Epub 2007 Mar 26. |
| 30. | Serum protein oxidation and apolipoprotein CIII levels in people with systemic lupus erythematosus with and without nephritis. | Morgan PE, etal., Free Radic Res. 2007 Dec;41(12):1301-12. |
| 31. | Association of lipoprotein lipase S447X, apolipoprotein E exon 4, and apoC3 -455T>C polymorphisms on the susceptibility to diabetic nephropathy. | Ng MC, etal., Clin Genet. 2006 Jul;70(1):20-8. |
| 32. | Lipoprotein abnormalities in patients with atherosclerotic renovascular disease. | Nowakowska Fortuna E, etal., Kidney Blood Press Res. 2011;34(5):311-9. doi: 10.1159/000325648. Epub 2011 May 26. |
| 33. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 34. | Plasma apolipoprotein C-III metabolism in patients with chronic kidney disease. | Ooi EM, etal., J Lipid Res. 2011 Apr;52(4):794-800. doi: 10.1194/jlr.M011163. Epub 2011 Feb 6. |
| 35. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 36. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 37. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
| 38. | Association between the SstI polymorphism of the apolipoprotein C-III gene, glucose intolerance and cardiovascular risk in renal transplant recipients. | Rodrigo E, etal., Transplant Proc. 2002 Feb;34(1):379. |
| 39. | Isotretinoin and fenofibrate induce adiposity with distinct effect on metabolic profile in a rat model of the insulin resistance syndrome. | Sedova L, etal., Int J Obes Relat Metab Disord. 2004 May;28(5):719-25. |
| 40. | Apolipoproteins as Differentiating and Predictive Markers for Assessing Clinical Outcomes in Patients with Small Cell Lung Cancer. | Shi J, etal., Yonsei Med J. 2016 May;57(3):549-56. doi: 10.3349/ymj.2016.57.3.549. |
| 41. | Association of gene polymorphisms with coronary artery disease in individuals with or without nonfamilial hypercholesterolemia. | Shimokata K, etal., Atherosclerosis. 2004 Jan;172(1):167-73. |
| 42. | The ApoAI-CIII-AIV gene cluster and its relation to lipid levels in type 2 diabetes mellitus and coronary heart disease: determination of a novel susceptible haplotype. | Singh P, etal., Diab Vasc Dis Res. 2007 Jun;4(2):124-9. |
| 43. | Apolipoprotein C3 polymorphisms, cognitive function and diabetes in Caribbean origin Hispanics. | Smith CE, etal., PLoS One. 2009;4(5):e5465. doi: 10.1371/journal.pone.0005465. Epub 2009 May 8. |
| 44. | Diagnostic and prognostic role of serum protein peak at 6449 m/z in gastric adenocarcinoma based on mass spectrometry. | Song D, etal., Br J Cancer. 2016 Apr 12;114(8):929-38. doi: 10.1038/bjc.2016.52. Epub 2016 Mar 22. |
| 45. | Detection and identification of serum protein peak at 6648 m/z as a novel indicator in breast cancer based on mass spectrometry. | Song D, etal., Discov Med. 2017 May;23(128):283-294. |
| 46. | Androgen receptor CAG repeat polymorphism is associated with serum testosterone levels, obesity and serum leptin in men with type 2 diabetes. | Stanworth RD, etal., Eur J Endocrinol. 2008 Dec;159(6):739-46. Epub 2008 Sep 19. |
| 47. | Haplotypes of the ApoA-I/C-III/A-IV gene cluster and familial combined hyperlipidemia. | Tahvanainen E, etal., Arterioscler Thromb Vasc Biol. 1998 Nov;18(11):1810-7. |
| 48. | The usefulness of measuring body fat deposition for detecting obesity and atherogenesity in Japanese school children. | Takahashi H, etal., Acta Paediatr Jpn. 1996 Dec;38(6):634-9. |
| 49. | [Apolipoprotein C-II and C-III anomalies in normolipemic and hyperlipemic patients with chronic kidney failure]. | Tornero F, etal., Nefrologia. 2000 Jan-Feb;20(1):47-53. |
| 50. | Targeted serum glycoproteomics for the discovery of lung cancer-associated glycosylation disorders using lectin-coupled ProteinChip arrays. | Ueda K, etal., Proteomics. 2009 Apr;9(8):2182-92. doi: 10.1002/pmic.200800374. |
| 51. | Identification of potential serum biomarkers for Wilms tumor after excluding confounding effects of common systemic inflammatory factors. | Wang J, etal., Mol Biol Rep. 2012 May;39(5):5095-104. doi: 10.1007/s11033-011-1305-1. Epub 2011 Dec 8. |
| 52. | Diagnostic and prognostic significance of mRNA expressions of apolipoprotein A and C family genes in hepatitis B virus-related hepatocellular carcinoma. | Wang X, etal., J Cell Biochem. 2019 Oct;120(10):18246-18265. doi: 10.1002/jcb.29131. Epub 2019 Jun 18. |
| 53. | Genetic risk for coronary artery disease in individuals with or without type 2 diabetes. | Yamada Y, etal., Mol Genet Metab. 2004 Apr;81(4):282-90. |
| 54. | An apolipoprotein CIII marker associated with hypertriglyceridemia in Caucasians also confers increased risk in a west Japanese population. | Zeng Q, etal., Hum Genet. 1995 Apr;95(4):371-5. |
Additional References at PubMed
| PMID:182536 | PMID:1917954 | PMID:2022742 | PMID:2989400 | PMID:3095836 | PMID:3123586 | PMID:3931073 | PMID:3931677 | PMID:3935800 | PMID:3949020 | PMID:3973011 | PMID:4020294 |
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| PMID:26117401 | PMID:26228667 | PMID:26247234 | PMID:26301570 | PMID:26387083 | PMID:26435212 | PMID:26452348 | PMID:26485402 | PMID:26491253 | PMID:26516010 | PMID:26625519 | PMID:26782469 |
| PMID:26790392 | PMID:26845356 | PMID:27059980 | PMID:27068509 | PMID:27094595 | PMID:27114411 | PMID:27146844 | PMID:27226540 | PMID:27318213 | PMID:27559042 | PMID:27619170 | PMID:27624799 |
| PMID:27650930 | PMID:27713142 | PMID:27770802 | PMID:27794214 | PMID:28159868 | PMID:28159869 | PMID:28245894 | PMID:28441154 | PMID:28473441 | PMID:28635360 | PMID:28641786 | PMID:28694296 |
| PMID:28701354 | PMID:28825717 | PMID:28865324 | PMID:28887372 | PMID:29115584 | PMID:29162127 | PMID:29237685 | PMID:29348120 | PMID:29351856 | PMID:29467335 | PMID:29540426 | PMID:29547399 |
| PMID:29793175 | PMID:30021607 | PMID:30026490 | PMID:30097533 | PMID:30249512 | PMID:30255797 | PMID:30380775 | PMID:30422238 | PMID:30580564 | PMID:30602199 | PMID:31753785 | PMID:31795904 |
| PMID:31819254 | PMID:31856839 | PMID:32296183 | PMID:32324598 | PMID:32407781 | PMID:32416067 | PMID:32437778 | PMID:32473635 | PMID:32494907 | PMID:32525256 | PMID:32589506 | PMID:33058850 |
| PMID:33115242 | PMID:33294458 | PMID:33303217 | PMID:33334888 | PMID:33389539 | PMID:33477763 | PMID:33580780 | PMID:33609030 | PMID:33753020 | PMID:33934596 | PMID:33961781 | PMID:34022244 |
| PMID:34394242 | PMID:34548093 | PMID:34588185 | PMID:34688878 | PMID:34785554 | PMID:34817888 | PMID:35253629 | PMID:35488290 | PMID:35538496 | PMID:35584319 | PMID:35637531 | PMID:35941108 |
| PMID:36008556 | PMID:36040803 | PMID:36361568 | PMID:36689070 | PMID:36774506 | PMID:36855114 | PMID:36876364 | PMID:36921196 | PMID:37044204 | PMID:37343697 | PMID:37866958 | PMID:37902017 |
| PMID:37972731 | PMID:38039351 | PMID:38151342 | PMID:38232538 | PMID:38791405 | PMID:39173944 |
Genomics
Comparative Map Data
| APOC3 (Homo sapiens - human) |
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| Apoc3 (Mus musculus - house mouse) |
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| Apoc3 (Rattus norvegicus - Norway rat) |
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| Apoc3 (Chinchilla lanigera - long-tailed chinchilla) |
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| APOC3 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| APOC3 (Canis lupus familiaris - dog) |
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| Apoc3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| APOC3 (Sus scrofa - pig) |
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| APOC3 (Chlorocebus sabaeus - green monkey) |
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| Apoc3 (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in APOC3
62 total Variants 
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