Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | atypical hemolytic-uremic syndrome | | ISO | THBD (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10460600 more ... | atypical hemolytic-uremic syndrome | | ISO | THBD (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10460600 more ... | atypical hemolytic-uremic syndrome | | ISO | THBD (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10460600 more ... | genetic disease | | ISO | THBD (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | hemorrhagic disease | | ISO | THBD (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormal bleeding | ClinVar | PMID:25741868 more ... | kidney disease | | ISO | THBD (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10460600 more ... | thrombocytopenia | | ISO | THBD (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Thrombocytopenia | ClinVar | PMID:25741868 and PMID:28492532 | thrombophilia due to thrombomodulin defect | | ISO | THBD (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10195941 more ... | thrombosis | | ISO | THBD (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Thrombus | ClinVar | PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Increased thrombin-activatable fibrinolysis inhibitor and decreased tissue factor pathway inhibitor and thrombomodulin levels in children with hypothyroidism. | Alioglu B, etal., J Clin Res Pediatr Endocrinol. 2012 Sep;4(3):146-50. doi: 10.4274/Jcrpe.652. |
| 2. | Relationship between plasma soluble thrombomodulin levels and insulin resistance syndrome in type 2 diabetes: a comparison with von Willebrand factor. | Aso Y, etal., Exp Clin Endocrinol Diabetes. 2001;109(4):210-6. |
| 3. | Inflammation, TNFalpha and endothelial dysfunction link lenalidomide to venous thrombosis in chronic lymphocytic leukemia. | Aue G, etal., Am J Hematol. 2011 Oct;86(10):835-40. doi: 10.1002/ajh.22114. Epub 2011 Aug 2. |
| 4. | Decrease in circulating endothelial cell adhesion molecule and thrombomodulin levels during oral iloprost treatment in rheumatoid arthritis patients: preliminary results. | Boehme MW, etal., Rheumatol Int. 2006 Feb;26(4):340-7. Epub 2005 Feb 8. |
| 5. | Cholinesterase inhibitors exert a protective effect on endothelial damage in Alzheimer disease patients. | Borroni B, etal., J Neurol Sci. 2005 Mar 15;229-230:211-3. Epub 2004 Dec 8. |
| 6. | Increased immunohistochemical expression of thrombomodulin at placental perivascular myofibroblast in severe preeclampsia (PE). | Bosco C, etal., Histol Histopathol. 2005 Oct;20(4):1045-55. |
| 7. | Mechanisms of anticoagulant and cytoprotective actions of the protein C pathway. | Bouwens EA, etal., J Thromb Haemost. 2013 Jun;11 Suppl 1:242-53. doi: 10.1111/jth.12247. |
| 8. | Expression patterns of adhesion receptors in the developing mouse lung: functional implications. | Buck CA, etal., Cell Adhes Commun 1996 Aug;4(2):69-87. |
| 9. | The association of idiopathic recurrent pregnancy loss with polymorphisms in hemostasis-related genes. | Cao Y, etal., Gene. 2013 Nov 10;530(2):248-52. doi: 10.1016/j.gene.2013.07.080. Epub 2013 Aug 14. |
| 10. | Thrombomodulin Ala455Val Polymorphism and the risk of cerebral infarction in a biracial population: the Stroke Prevention in Young Women Study. | Cole JW, etal., BMC Neurol. 2004 Dec 1;4(1):21. |
| 11. | Plasma biomarker profiles in acute exacerbation of idiopathic pulmonary fibrosis. | Collard HR, etal., Am J Physiol Lung Cell Mol Physiol. 2010 Jul;299(1):L3-7. Epub 2010 Apr 23. |
| 12. | Alterations in endothelial thrombomodulin expression in zymosan-induced lung injury. | Cone JB, etal., J Trauma. 2003 Apr;54(4):731-6; discussion 736. |
| 13. | Upregulation of Inflammatory Mediators in End-Stage Renal Disease as Measured Using Biochip Array Technology. | Davis R, etal., Clin Appl Thromb Hemost. 2011 Aug 25. |
| 14. | Erectile and endothelial dysfunction in Type II diabetes: a possible link. | De Angelis L, etal., Diabetologia. 2001 Sep;44(9):1155-60. |
| 15. | Thrombomodulin mutations in atypical hemolytic-uremic syndrome. | Delvaeye M, etal., N Engl J Med. 2009 Jul 23;361(4):345-57. doi: 10.1056/NEJMoa0810739. |
| 16. | Anchoring fusion thrombomodulin to the endothelial lumen protects against injury-induced lung thrombosis and inflammation. | Ding BS, etal., Am J Respir Crit Care Med. 2009 Aug 1;180(3):247-56. Epub 2009 Apr 2. |
| 17. | Serum thrombomodulin in systemic lupus erythematosus and juvenile idiopathic arthritis. | el-Gamal YM, etal., Pediatr Allergy Immunol. 2004 Jun;15(3):270-7. |
| 18. | Neuroprotective effects of recombinant thrombomodulin in controlled contusion spinal cord injury implicates thrombin signaling. | Festoff BW, etal., J Neurotrauma. 2004 Jul;21(7):907-22. |
| 19. | Prothrombotic markers in familial combined hyperlipidemia: evidence of endothelial cell activation and relation to metabolic syndrome. | Georgieva AM, etal., Atherosclerosis. 2004 Aug;175(2):345-51. |
| 20. | Neuropathologic evidence of endothelial changes in cerebral small vessel disease. | Giwa MO, etal., Neurology. 2011 Dec 14. |
| 21. | Endothelial expression of transcription factor Kruppel-like factor 2 and its vasoprotective target genes in the normal and cirrhotic rat liver. | Gracia-Sancho J, etal., Gut. 2011 Apr;60(4):517-24. Epub 2010 Nov 26. |
| 22. | In vivo and in vitro effects of the anticoagulant, thrombomodulin, on the inflammatory response in rodent models. | Hagiwara S, etal., Shock. 2010 Mar;33(3):282-8. |
| 23. | Recombinant thrombomodulin prevents heatstroke by inhibition of high-mobility group box 1 protein in sera of rats. | Hagiwara S, etal., Shock. 2010 Oct;34(4):402-6. |
| 24. | Impact of alpha-tocopherol and vitamin C on endothelial markers in rats with streptozotocin-induced diabetes. | Haidara MA, etal., Med Sci Monit. 2004 Feb;10(2):BR41-6. |
| 25. | The effects of recombinant human thrombomodulin on endotoxin-induced multiple-system organ failure in rats. | Hasegawa N, etal., Am J Respir Crit Care Med. 1996 Jun;153(6 Pt 1):1831-7. |
| 26. | Markers of endothelial cell activation in elderly men at high risk for coronary heart disease. | Hjerkinn EM, etal., Scand J Clin Lab Invest. 2005;65(3):201-9. |
| 27. | Effect of recombinant human soluble thrombomodulin on clinical outcomes of patients with coagulopathy after hematopoietic stem cell transplantation. | Ikezoe T, etal., Eur J Haematol. 2013 Nov;91(5):442-7. doi: 10.1111/ejh.12188. Epub 2013 Oct 1. |
| 28. | The thrombomodulin-protein C system is essential for the maintenance of pregnancy. | Isermann B, etal., Nat Med 2003 Mar;9(3):331-7. |
| 29. | Effects of a novel peptide derived from human thrombomodulin on endotoxin-induced uveitis in vitro and in vivo. | Jin H, etal., FEBS Lett. 2011 Nov 4;585(21):3457-64. doi: 10.1016/j.febslet.2011.10.002. Epub 2011 Oct 10. |
| 30. | Low soluble thrombomodulin activity and antigen is associated with a family history of heart disease while a high level is associated with a personal history of heart disease in type 2 diabetes. | Konstantoulas CJ, etal., Thromb Haemost. 2007 Jan;97(1):161-4. |
| 31. | Bacterial lipopolysaccharide decreases thrombomodulin expression in the sinusoidal endothelial cells of rats -- a possible mechanism of intrasinusoidal microthrombus formation and liver dysfunction. | Kume M, etal., J Hepatol. 2003 Jan;38(1):9-17. |
| 32. | Clinical significance of selected endothelial activation markers in patients with systemic lupus erythematosus. | Kuryliszyn-Moskal A, etal., J Rheumatol. 2008 Jul;35(7):1307-13. Epub 2008 May 15. |
| 33. | Zhongguo wei zhong bing ji jiu yi xue = Chinese critical care medicine = Zhongguo weizhongbing jijiuyixue | Li YP, etal., Zhongguo Wei Zhong Bing Ji Jiu Yi Xue. 2007 Jun;19(6):365-8. |
| 34. | Decreased expression of thrombomodulin is correlated with tumor cell invasiveness and poor prognosis in nonsmall cell lung cancer. | Liu PL, etal., Mol Carcinog. 2010 Oct;49(10):874-81. |
| 35. | Elevated plasma tissue-type plasminogen activator (t-PA) and soluble thrombomodulin in patients suffering from severe acute respiratory syndrome (SARS) as a possible index for prognosis and treatment strategy. | Liu ZH, etal., Biomed Environ Sci. 2005 Aug;18(4):260-4. |
| 36. | [Expression of thrombomodulin, endothelial protein C receptor in lung tissue of acute paraquat poisoned rats and intervention of sodium dimercaptopropane sulfonate]. | Lu ZQ, etal., Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi. 2009 Aug;27(8):453-6. |
| 37. | Impaired flow-mediated vasodilation, carotid artery intima-media thickening, and elevated endothelial plasma markers in obese children: the impact of cardiovascular risk factors. | Meyer AA, etal., Pediatrics. 2006 May;117(5):1560-7. |
| 38. | MGDs mouse GO annotations | MGD data from the GO Consortium |
| 39. | MGD IEA | MGD IEA |
| 40. | Hepatic expression and serum levels of thrombomodulin reflect the extent of liver injury in rats with fulminant hepatic failure and extensive hepatectomy. | Miyamoto S, etal., Hepatol Res. 2002 Mar;22(3):206-213. |
| 41. | Recombinant human soluble thrombomodulin decreases the plasma high-mobility group box-1 protein levels, whereas improving the acute liver injury and survival rates in experimental endotoxemia. | Nagato M, etal., Crit Care Med. 2009 Jul;37(7):2181-6. |
| 42. | Recombinant thrombomodulin protects mice against histone-induced lethal thromboembolism. | Nakahara M, etal., PLoS One. 2013 Sep 30;8(9):e75961. doi: 10.1371/journal.pone.0075961. eCollection 2013. |
| 43. | Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype. | Noris M, etal., Clin J Am Soc Nephrol. 2010 Oct;5(10):1844-59. doi: 10.2215/CJN.02210310. Epub 2010 Jul 1. |
| 44. | Enhanced production of endothelial microparticles with increased binding to leukocytes in patients with severe systemic inflammatory response syndrome. | Ogura H, etal., J Trauma. 2004 Apr;56(4):823-30; discussion 830-1. |
| 45. | Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
| 46. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 47. | Early embryonic expression of murine coagulation system components. | Ong K, etal., Thromb Haemost 2000 Dec;84(6):1023-30. |
| 48. | Intrarenal administration of recombinant human soluble thrombomodulin ameliorates ischaemic acute renal failure. | Ozaki T, etal., Nephrol Dial Transplant. 2008 Jan;23(1):110-9. Epub 2007 Sep 5. |
| 49. | Circulating thrombomodulin levels in familial Mediterranean fever. | Ozbalkan Z, etal., Clin Exp Rheumatol. 2006 Sep-Oct;24(5 Suppl 42):S95-8. |
| 50. | Thrombomodulin and antibeta2-glycoprotein I in stroke in children. | Pilarska E, etal., Med Sci Monit. 2010 Jul;16(7):CR348-51. |
| 51. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 52. | Human thrombomodulin knock-in mice reveal differential effects of human thrombomodulin on thrombosis and atherosclerosis. | Raife TJ, etal., Arterioscler Thromb Vasc Biol. 2011 Nov;31(11):2509-17. |
| 53. | Soluble Thrombomodulin Reduces Inflammation and Prevents Microalbuminuria Induced by Chronic Endothelial Activation in Transgenic Mice. | Rajashekhar G, etal., Am J Physiol Renal Physiol. 2011 Nov 30. |
| 54. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
| 55. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 56. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 57. | Markers for endothelial dysfunction, but not markers for oxidative stress correlate with classical risk factors and the severity of coronary artery disease. (A subgroup analysis from the Ludwigshafen Risk and Cardiovascular Health Study). | Ruef J, etal., Scand Cardiovasc J. 2006 Oct;40(5):274-9. |
| 58. | Hypertension associated with reduced plasma thrombomodulin levels and a hypercoagulable state in rats. | Sawada K, etal., Clin Exp Hypertens. 2003 Feb;25(2):73-84. |
| 59. | Crucial role of the protein C pathway in governing microvascular inflammation in inflammatory bowel disease. | Scaldaferri F, etal., J Clin Invest. 2007 Jul;117(7):1951-60. |
| 60. | Soluble thrombomodulin protects ischemic kidneys. | Sharfuddin AA, etal., J Am Soc Nephrol. 2009 Mar;20(3):524-34. Epub 2009 Jan 28. |
| 61. | Reduction expression of thrombomodulin and endothelial cell nitric oxide synthase in dermatomyositis. | Shen GL, etal., Neuropathology. 2007 Aug;27(4):309-13. |
| 62. | Age-dependent vulnerability to endotoxemia is associated with reduction of anticoagulant factors activated protein C and thrombomodulin. | Starr ME, etal., Blood. 2010 Jun 10;115(23):4886-93. Epub 2010 Mar 26. |
| 63. | The thrombomodulin analog Solulin promotes reperfusion and reduces infarct volume in a thrombotic stroke model. | Su EJ, etal., J Thromb Haemost. 2011 Jun;9(6):1174-82. doi: 10.1111/j.1538-7836.2011.04269.x. |
| 64. | Elevation of intracellular cAMP up-regulated thrombomodulin mRNA in cultured vascular endothelial cells derived from spontaneous type-II diabetes mellitus model rat. | Sunagawa M, etal., Endothelium. 2006 Sep-Oct;13(5):325-33. |
| 65. | Non-viral in vivo thrombomodulin gene transfer prevents early loss of thromboresistance of grafted veins. | Tabuchi N, etal., Eur J Cardiothorac Surg. 2004 Nov;26(5):995-1001. |
| 66. | Inhibition of allergic bronchial asthma by thrombomodulin is mediated by dendritic cells. | Takagi T, etal., Am J Respir Crit Care Med. 2011 Jan 1;183(1):31-42. Epub 2010 Aug 13. |
| 67. | Recombinant human soluble thrombomodulin prevents peripheral HMGB1-dependent hyperalgesia in rats. | Tanaka J, etal., Br J Pharmacol. 2013 Nov;170(6):1233-41. doi: 10.1111/bph.12396. |
| 68. | Evaluation of various endothelial biomarkers in ankylosing spondylitis. | Taylan A, etal., Clin Rheumatol. 2012 Jan;31(1):23-8. Epub 2011 May 10. |
| 69. | Soluble thrombomodulin as a predictor of type 2 diabetes: results from the MONICA/KORA Augsburg case-cohort study, 1984-1998. | Thorand B, etal., Diabetologia. 2007 Mar;50(3):545-8. Epub 2006 Dec 29. |
| 70. | Separation and characterization of the molecular species of thrombomodulin in the plasma of diabetic patients. | Uehara S, etal., Thromb Res. 2001 Dec 1;104(5):325-32. |
| 71. | Expression of the endothelial thrombomodulin (TM) on the ischemic rat flap model: preliminary study. | Uygur F, etal., Ann Plast Surg. 2009 Jun;62(6):693-8. |
| 72. | The lectin-like domain of thrombomodulin interferes with complement activation and protects against arthritis. | Van de Wouwer M, etal., J Thromb Haemost. 2006 Aug;4(8):1813-24. |
| 73. | Clinical and immunoserological characteristics of mixed connective tissue disease associated with pulmonary arterial hypertension. | Vegh J, etal., Scand J Immunol. 2006 Jul;64(1):69-76. |
| 74. | cDNA cloning and sequencing, gene expression, and immunolocalization of thrombomodulin in the Sprague-Dawley rat. | Wang J, etal., DNA Res 1999 Feb 26;6(1):57-62. |
| 75. | [Is soluble thrombomodulin a molecular marker of endothelial cell injury in children and adolescents with arterial hypertension?] | Wojtkielewicz K, etal., Med Wieku Rozwoj. 2006 Jul-Sep;10(3 Pt 2):893-902. |
| 76. | Treatment effects of recombinant human soluble thrombomodulin in patients with severe sepsis: a historical control study. | Yamakawa K, etal., Crit Care. 2011;15(3):R123. Epub 2011 May 11. |
| 77. | Synergistic association of metabolic syndrome and overt nephropathy with elevated asymmetric dimethylarginine in serum and impaired cutaneous microvasodilation in patients with type 2 diabetes. | Yamamoto R and Aso Y, Diabetes Care. 2006 Apr;29(4):928-30. |
| 78. | Cerebral endothelial injury in elderly patients with severe head injury measured by serum thrombomodulin and von Willebrand factor. | Yokota H, etal., Neurol Med Chir (Tokyo). 2007 Sep;47(9):383-8; discussion 388. |
| 79. | Lack of the lectin-like domain of thrombomodulin worsens Shiga toxin-associated hemolytic uremic syndrome in mice. | Zoja C, etal., J Immunol. 2012 Oct 1;189(7):3661-8. Epub 2012 Aug 31. |
| 80. | Clinical implications of serum thrombomodulin in PR3-ANCA-associated vasculitis. | Zycinska K, etal., Eur J Med Res. 2009 Dec 7;14 Suppl 4:268-70. |
Additional References at PubMed
| PMID:1372003 | PMID:2162790 | PMID:2536925 | PMID:2844823 | PMID:3036632 | PMID:7846065 | PMID:8207015 | PMID:8388220 | PMID:8389207 | PMID:8395401 | PMID:8575060 | PMID:8578517 |
| PMID:8681807 | PMID:8918245 | PMID:9063732 | PMID:9073507 | PMID:9144489 | PMID:9198243 | PMID:9548583 | PMID:9576763 | PMID:9834223 | PMID:10233896 | PMID:10349636 | PMID:10487767 |
| PMID:10550314 | PMID:10565546 | PMID:11015584 | PMID:11042159 | PMID:11066091 | PMID:11076861 | PMID:11217851 | PMID:11222138 | PMID:11387227 | PMID:11518727 | PMID:11557684 | PMID:12053176 |
| PMID:12195698 | PMID:12208873 | PMID:12477932 | PMID:12539040 | PMID:12761846 | PMID:14556079 | PMID:14592828 | PMID:14615369 | PMID:15448005 | PMID:15489334 | PMID:15769825 | PMID:16014564 |
| PMID:16141072 | PMID:16141073 | PMID:16537572 | PMID:16602821 | PMID:16844427 | PMID:17068293 | PMID:17299096 | PMID:17438064 | PMID:17848551 | PMID:17973652 | PMID:17982464 | PMID:18287559 |
| PMID:18490515 | PMID:18508817 | PMID:18599803 | PMID:19091791 | PMID:19299737 | PMID:19334288 | PMID:19687358 | PMID:20442369 | PMID:21111988 | PMID:21267068 | PMID:21308776 | PMID:21423464 |
| PMID:21685324 | PMID:21788337 | PMID:21833011 | PMID:21840881 | PMID:22323363 | PMID:22573811 | PMID:22729286 | PMID:22903729 | PMID:23014597 | PMID:23267072 | PMID:23321922 | PMID:23325830 |
| PMID:23409043 | PMID:23823180 | PMID:24136651 | PMID:24194600 | PMID:24261709 | PMID:24323314 | PMID:24368584 | PMID:25497974 | PMID:25609841 | PMID:25816372 | PMID:25860286 | PMID:26338301 |
| PMID:26457757 | PMID:26573396 | PMID:26634653 | PMID:27427915 | PMID:27590316 | PMID:27808085 | PMID:28306049 | PMID:28687614 | PMID:28737512 | PMID:28920104 | PMID:30341568 | PMID:30442679 |
| PMID:30550785 | PMID:31628891 | PMID:31676784 | PMID:32220631 | PMID:32735640 | PMID:32870264 | PMID:33028093 | PMID:33617784 | PMID:33836597 | PMID:35277184 | PMID:35364055 | PMID:35700057 |
| PMID:36030260 | PMID:36162255 |
Genomics
Comparative Map Data
| Thbd (Mus musculus - house mouse) |
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| THBD (Homo sapiens - human) |
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| Thbd (Rattus norvegicus - Norway rat) |
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| Thbd (Chinchilla lanigera - long-tailed chinchilla) |
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| THBD (Pan paniscus - bonobo/pygmy chimpanzee) |
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| THBD (Canis lupus familiaris - dog) |
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| Thbd (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| THBD (Sus scrofa - pig) |
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| THBD (Chlorocebus sabaeus - green monkey) |
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| Thbd (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Thbd
75 total Variants 
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