Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | 1q24 Deletion Syndrome | | ISO | RGD:1316583 | 8554872 | ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome | ClinVar | PMID:21548129 more ... | antithrombin III deficiency | | ISO | RGD:1316583 | 8554872 | ClinVar Annotator: match by term: Hereditary antithrombin deficiency | ClinVar | PMID:10361121 more ... | autoimmune lymphoproliferative syndrome | | ISO | RGD:1316583 | 8554872 | ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME more ... | ClinVar | PMID:22857792 more ... | gastrointestinal stromal tumor | | ISO | RGD:1316583 | 8554872 | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar | PMID:28492532 | genetic disease | | ISO | RGD:1316583 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | hemorrhagic disease | | ISO | RGD:1316583 | 8554872 | ClinVar Annotator: match by term: Abnormal bleeding | ClinVar | PMID:12907439 more ... | parathyroid carcinoma | | ISO | RGD:1316583 | 8554872 | ClinVar Annotator: match by term: Parathyroid carcinoma | ClinVar | PMID:28492532 | Stroke | | ISO | RGD:1316583 | 8554872 | ClinVar Annotator: match by term: Stroke | ClinVar | PMID:25741868 | Thromboembolism | | ISO | RGD:1316583 | 8554872 | ClinVar Annotator: match by term: Thromboembolism | ClinVar | PMID:1483705 more ... | tuberous sclerosis 2 | | ISO | RGD:1316583 | 8554872 | ClinVar Annotator: match by term: Tuberous sclerosis 2 | ClinVar | PMID:21264449 more ... | Venous Thrombosis | | ISO | RGD:1316583 | 8554872 | ClinVar Annotator: match by term: Deep venous thrombosis | ClinVar | PMID:1483705 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Comparison of intraperitoneal antithrombin III and heparin in experimental peritonitis. | Akman S, etal., Pediatr Nephrol. 2008 Aug;23(8):1327-30. doi: 10.1007/s00467-008-0829-7. Epub 2008 May 6. |
| 2. | Coagulopathy of childhood nephrotic syndrome--a reappraisal of the role of natural anticoagulants and fibrinolysis. | al-Mugeiren MM, etal., Haemostasis. 1996 Nov-Dec;26(6):304-10. |
| 3. | Enhancement of the coagulation system in spontaneously hypertensive and hyperlipidemic rats. | Amagasa H, etal., J Atheroscler Thromb. 2005;12(4):191-8. |
| 4. | [Effect of antithrombin-III (AT-III) on intestinal epithelium changes related to obstructive icterus: experimental study in rats] | Caglikulekci M, etal., Ann Chir. 2004 Jun;129(5):273-7. |
| 5. | Hepatic ischemia/reperfusion injury is diminished by atorvastatin in Wistar rats. | Camara-Lemarroy CR, etal., Arch Med Res. 2014 Apr;45(3):210-6. doi: 10.1016/j.arcmed.2014.02.001. Epub 2014 Apr 13. |
| 6. | Effect of diallyl trisulfide-rich garlic oil on blood coagulation and plasma activity of anticoagulation factors in rats. | Chan KC, etal., Food Chem Toxicol. 2006 Oct 20;. |
| 7. | Anticoagulatory and antiinflammatory effects of astaxanthin in diabetic rats. | Chan KC, etal., J Food Sci. 2012 Feb;77(2):H76-80. doi: 10.1111/j.1750-3841.2011.02558.x. Epub 2012 Feb 6. |
| 8. | Haemostatic imbalance following carrageenan-induced rat paw oedema. | Cicala C, etal., Eur J Pharmacol. 2007 Dec 22;577(1-3):156-61. Epub 2007 Aug 14. |
| 9. | Abnormalities of coagulation in experimental nephrotic syndrome. | Cruz C, etal., Nephron. 1994;68(4):489-96. |
| 10. | Role of antithrombin and factor XIII in leukocyte-independent plasma extravasation during endotoxemia: an intravital-microscopic study in the rat. | Czabanka M, etal., J Surg Res. 2006 Dec;136(2):219-26. Epub 2006 Feb 2. |
| 11. | Molecular basis and thrombotic manifestations of antithrombin deficiency in 15 unrelated Chinese patients. | Ding Q, etal., Thromb Res. 2013 Sep;132(3):367-73. doi: 10.1016/j.thromres.2013.07.013. Epub 2013 Aug 8. |
| 12. | Antithrombin III pretreatment reduces neutrophil recruitment into the lung and skeletal muscle tissues in the rat model of bilateral lower limb ischemia and reperfusion: a pilot study. | Duru S, etal., Acta Anaesthesiol Scand. 2005 Sep;49(8):1142-8. |
| 13. | Effects of warfarin and L-carnitine on hemostatic function and oxidative stress in streptozotocin-induced diabetic rats. | ElGendy AA and Abbas AM, J Physiol Biochem. 2014 Jun;70(2):535-46. doi: 10.1007/s13105-014-0333-4. Epub 2014 Mar 27. |
| 14. | Efficacy of antithrombin III supplementation in animal models of fulminant Escherichia coli endotoxemia or bacteremia. | Emerson TE Jr, etal., Am J Med. 1989 Sep 11;87(3B):27S-33S. |
| 15. | Effects of antithrombin III on myeloperoxidase activity, superoxide dismutase activity, and malondialdehyde levels and histopathological findings after spinal cord injury in the rat. | Erman T, etal., Neurosurgery. 2005 Apr;56(4):828-35. |
| 16. | Possible cause of primary graft non-function after orthotopic liver transplantation: a hypothesis with rat models. | Fujiwara K, etal., J Gastroenterol Hepatol. 1995;10 Suppl 1:S88-91. |
| 17. | Degree of hypercoagulability and hyperfibrinolysis is related to organ failure and prognosis after burn trauma. | Garcia-Avello A, etal., Thromb Res. 1998 Jan 15;89(2):59-64. |
| 18. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 19. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
| 20. | Development of hyperfibrinogenemia in spontaneously hypertensive and hyperlipidemic rats: a potentially useful animal model as a complication of hypertension and hyperlipidemia. | Gomibuchi H, etal., Exp Anim. 2007 Jan;56(1):1-10. |
| 21. | Ketamine reduces intestinal injury and inflammatory cell infiltration after ischemia/reperfusion in rats. | Guzman-De La Garza FJ, etal., Surg Today. 2010 Nov;40(11):1055-62. doi: 10.1007/s00595-009-4177-4. Epub 2010 Nov 3. |
| 22. | High-dose antithrombin III prevents heat stroke by attenuating systemic inflammation in rats. | Hagiwara S, etal., Inflamm Res. 2010 Jul;59(7):511-8. doi: 10.1007/s00011-009-0155-y. Epub 2010 Jan 3. |
| 23. | High dose antithrombin III inhibits HMGB1 and improves endotoxin-induced acute lung injury in rats. | Hagiwara S, etal., Intensive Care Med. 2008 Feb;34(2):361-7. Epub 2007 Oct 17. |
| 24. | Antithrombin III prevents cerulein-induced acute pancreatitis in rats. | Hagiwara S, etal., Pancreas. 2009 Oct;38(7):746-51. doi: 10.1097/MPA.0b013e3181aba9fa. |
| 25. | Antithrombin reduces ischemia/reperfusion-induced liver injury in rats by activation of cyclooxygenase-1. | Harada N, etal., Thromb Haemost. 2004 Sep;92(3):550-8. |
| 26. | Antithrombin reduces endotoxin-induced hypotension by enhancing pulmonary sensory neuron activation in rats. | Harada N, etal., Thromb Haemost. 2006 Jun;95(6):1011-8. |
| 27. | Antithrombotic activity of kininogen is mediated by inhibitory effects of domain 3 during arterial injury in vivo. | Hassan S, etal., Am J Physiol Heart Circ Physiol. 2007 Jun;292(6):H2959-65. Epub 2007 Feb 9. |
| 28. | Discovery of serum biomarkers implicated in the onset and progression of serous ovarian cancer in a rat model using iTRAQ technique. | Huang Y, etal., Eur J Obstet Gynecol Reprod Biol. 2012 Nov;165(1):96-103. doi: 10.1016/j.ejogrb.2012.06.031. Epub 2012 Jul 18. |
| 29. | Antithrombin ameliorates endotoxin-induced organ dysfunction more efficiently when combined with danaparoid sodium than with unfractionated heparin. | Iba T, etal., Intensive Care Med. 2005 Aug;31(8):1101-8. Epub 2005 Jul 2. |
| 30. | Haemostatic abnormalities persist despite glycaemic improvement by insulin therapy in lean type 2 diabetic patients. | Knobl P, etal., Thromb Haemost. 1994 Jun;71(6):692-7. |
| 31. | In vivo anticoagulant effect of ethyl pyruvate in endotoxemic rats. | Kung CW, etal., Thromb Res. 2011 Jun;127(6):582-8. Epub 2011 Mar 10. |
| 32. | Antithrombin reduces reperfusion-induced hepatic metastasis of colon cancer cells. | Kurata M, etal., World J Gastroenterol. 2006 Jan 7;12(1):60-5. |
| 33. | Antithrombin-III plasma activity during and after prolonged use of heparin in unstable angina. | Lidon RM, etal., Thromb Res. 1993 Oct 1;72(1):23-32. |
| 34. | [Effect of UC-MSCs on inflammation and thrombosis of the rats with collagen type II induced arthritis]. | Lin CM, etal., Zhonghua Xue Ye Xue Za Zhi. 2012 Mar;33(3):215-9. |
| 35. | Impact of antithrombin III on hepatic and intestinal microcirculation in experimental liver cirrhosis and bowel inflammation: an in vivo analysis. | Maksan SM, etal., World J Gastroenterol. 2005 Aug 28;11(32):4997-5001. |
| 36. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 37. | Antithrombin III injection via the portal vein suppresses liver damage. | Miyazaki M, etal., World J Gastroenterol. 2012 Apr 28;18(16):1884-91. doi: 10.3748/wjg.v18.i16.1884. |
| 38. | Blood coagulation. | Norris LA, Best Pract Res Clin Obstet Gynaecol. 2003 Jun;17(3):369-83. |
| 39. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 40. | Antithrombin Phe229Leu: a new homozygous variant leading to spontaneous antithrombin polymerization in vivo associated with severe childhood thrombosis. | Picard V, etal., Blood. 2003 Aug 1;102(3):919-25. Epub 2003 Feb 20. |
| 41. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 42. | PID Annotation Import Pipeline | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
| 43. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
| 44. | GOA pipeline | RGD automated data pipeline |
| 45. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 46. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 47. | Evidence linking familial thrombosis with a defective antithrombin III gene in two British kindreds. | Sacks SH, etal., J Med Genet. 1988 Jan;25(1):20-4. |
| 48. | Acute and severe coagulopathy in adult mice following silencing of hepatic antithrombin and protein C production. | Safdar H, etal., Blood. 2013 May 23;121(21):4413-6. doi: 10.1182/blood-2012-11-465674. Epub 2013 Apr 2. |
| 49. | Changes in coagulation and fibrinolysis of post-SARS osteonecrosis in a Chinese population. | Sun W, etal., Int Orthop. 2006 Jun;30(3):143-6. doi: 10.1007/s00264-005-0067-6. Epub 2006 Mar 18. |
| 50. | [Hematological changes and related gene mutation of post-severe acute respiratory syndrome patients with osteonecrosis]. | Sun W, etal., Zhonghua Yi Xue Za Zhi. 2006 Feb 21;86(7):442-5. |
| 51. | Purification and characterization of rat plasma antithrombin III. | Takahara H and Sinohara H, Biochim Biophys Acta. 1980 Mar 14;612(1):185-94. |
| 52. | Beneficial effects of magnolol in a rodent model of endotoxin shock. | Tsai YC, etal., Eur J Pharmacol. 2010 Sep 1;641(1):67-73. Epub 2010 May 25. |
| 53. | Changes in blood parameters and the expression of coagulation-related genes in lactating Sprague-Dawley rats. | Urasoko Y, etal., J Am Assoc Lab Anim Sci. 2012 Mar;51(2):144-9. |
| 54. | Antithrombin III/SerpinC1 insufficiency exacerbates renal ischemia/reperfusion injury. | Wang F, etal., Kidney Int. 2015 Oct;88(4):796-803. doi: 10.1038/ki.2015.176. Epub 2015 Jun 24. |
| 55. | Immunocytochemical localization of endogenous anti-thrombin III in the vasculature of rat tissues reveals locations of anticoagulantly active heparan sulfate proteoglycans. | Xu Y and Slayter HS, J Histochem Cytochem. 1994 Oct;42(10):1365-76. |
| 56. | Association and linkage analyses of restriction fragment length polymorphisms for the human renin and antithrombin III genes in essential hypertension. | Zee RY, etal., J Hypertens. 1991 Sep;9(9):825-30. |
Additional References at PubMed
| PMID:1695900 | PMID:12477932 | PMID:15853774 | PMID:16502470 | PMID:18923394 | PMID:19295486 | PMID:22516433 | PMID:23376485 | PMID:23533145 | PMID:28767184 |
Genomics
Comparative Map Data
| Serpinc1 (Rattus norvegicus - Norway rat) |
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| SERPINC1 (Homo sapiens - human) |
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| Serpinc1 (Mus musculus - house mouse) |
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| Serpinc1 (Chinchilla lanigera - long-tailed chinchilla) |
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| SERPINC1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| SERPINC1 (Canis lupus familiaris - dog) |
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| Serpinc1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| SERPINC1 (Sus scrofa - pig) |
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| SERPINC1 (Chlorocebus sabaeus - green monkey) |
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| Serpinc1 (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Serpinc1
119 total Variants 
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