Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal dominant familial periodic fever | | ISO | RGD:1321258 | 8554872 | ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) | ClinVar | PMID:28492532 | developmental and epileptic encephalopathy 21 | | ISO | RGD:1321258 | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 | ClinVar | PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 1 | | ISO | RGD:1321258 | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis more ... | ClinVar | PMID:25378588, PMID:29389098 | Klippel-Feil syndrome 3 | | ISO | RGD:1321258 | 8554872 | ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant | ClinVar | PMID:28492532 | multisystem inflammatory syndrome in children | | ISO | RGD:1321258 | 8554872 | ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children | ClinVar | | peroxisome biogenesis disorder 2B | | ISO | RGD:1321258 | 8554872 | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B | ClinVar | PMID:28492532 | Temtamy syndrome | | ISO | RGD:1321258 | 8554872 | ClinVar Annotator: match by term: Temtamy syndrome | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | CD163 levels, pro- and anti-inflammatory cytokine secretion of monocytes in children with pulmonary tuberculosis. | Aktas Cetin E, etal., Pediatr Pulmonol. 2017 May;52(5):675-683. doi: 10.1002/ppul.23617. Epub 2016 Sep 29. |
| 2. | Lack of association of tumor-associated macrophages with clinical outcome in patients with classical Hodgkin's lymphoma. | Azambuja D, etal., Ann Oncol. 2012 Mar;23(3):736-742. doi: 10.1093/annonc/mdr157. Epub 2011 May 20. |
| 3. | Reduced sTWEAK and increased sCD163 levels in HIV-infected patients: modulation by antiretroviral treatment, HIV replication and HCV co-infection. | Beltrán LM, etal., PLoS One. 2014 Mar 4;9(3):e90541. doi: 10.1371/journal.pone.0090541. eCollection 2014. |
| 4. | Collagen deposition in chronic hidradenitis suppurativa: potential role for CD163+ macrophages. | Byrd AS, etal., Br J Dermatol. 2018 Sep;179(3):792-794. doi: 10.1111/bjd.16600. Epub 2018 Jun 29. |
| 5. | Expression of toll-like receptor 4 in uvea-resident tissue macrophages during endotoxin-induced uveitis. | Chen W, etal., Mol Vis. 2009;15:619-28. Epub 2009 Mar 30. |
| 6. | Iron trafficking in patients with Indian Post kala-azar dermal leishmaniasis. | Dighal A, etal., PLoS Negl Trop Dis. 2020 Feb 5;14(2):e0007991. doi: 10.1371/journal.pntd.0007991. eCollection 2020 Feb. |
| 7. | The macrophage activation marker CD163 is associated with IL28B genotype and hepatic inflammation in chronic hepatitis C virus infected patients. | Dultz G, etal., J Viral Hepat. 2016 Apr;23(4):267-73. doi: 10.1111/jvh.12488. Epub 2015 Nov 10. |
| 8. | Tissue-resident macrophages in omentum promote metastatic spread of ovarian cancer. | Etzerodt A, etal., J Exp Med. 2020 Apr 6;217(4). pii: 133611. doi: 10.1084/jem.20191869. |
| 9. | CD163 expression defines specific, IRF8-dependent, immune-modulatory macrophages in the bone marrow. | Fischer-Riepe L, etal., J Allergy Clin Immunol. 2020 Nov;146(5):1137-1151. doi: 10.1016/j.jaci.2020.02.034. Epub 2020 Mar 19. |
| 10. | Serum soluble CD163 levels in patients with influenza-associated encephalopathy. | Hasegawa S, etal., Brain Dev. 2013 Aug;35(7):626-9. doi: 10.1016/j.braindev.2012.10.005. Epub 2012 Nov 11. |
| 11. | Soluble CD163-Associated Dietary Patterns and the Risk of Metabolic Syndrome. | Hu TY, etal., Nutrients. 2019 Apr 25;11(4). pii: nu11040940. doi: 10.3390/nu11040940. |
| 12. | M2-polarized tumour-associated macrophages in stroma correlate with poor prognosis and Epstein-Barr viral infection in nasopharyngeal carcinoma. | Huang H, etal., Acta Otolaryngol. 2017 Aug;137(8):888-894. doi: 10.1080/00016489.2017.1296585. Epub 2017 Apr 10. |
| 13. | Soluble CD163, a macrophage activation marker, is independently associated with fibrosis in patients with chronic viral hepatitis B and C. | Kazankov K, etal., Hepatology. 2014 Aug;60(2):521-30. doi: 10.1002/hep.27129. Epub 2014 May 6. |
| 14. | Monocyte expression and soluble levels of the haemoglobin receptor (CD163/sCD163) and the mannose receptor (MR/sMR) in septic and critically ill non-septic ICU patients. | Kjærgaard AG, etal., PLoS One. 2014 Mar 17;9(3):e92331. doi: 10.1371/journal.pone.0092331. eCollection 2014. |
| 15. | Clinical significance of CD163⁺ tumor-associated macrophages in patients with adult T-cell leukemia/lymphoma. | Komohara Y, etal., Cancer Sci. 2013 Jul;104(7):945-51. doi: 10.1111/cas.12167. Epub 2013 May 9. |
| 16. | Levels of soluble CD163 and severity of malaria in children in Ghana. | Kusi KA, etal., Clin Vaccine Immunol. 2008 Sep;15(9):1456-60. doi: 10.1128/CVI.00506-07. Epub 2008 Jul 16. |
| 17. | Expression of CD206 and CD163 on intermediate CD14++CD16+ monocytes are increased in hemorrhagic fever with renal syndrome and are correlated with disease severity. | Li X, etal., Virus Res. 2018 Jul 15;253:92-102. doi: 10.1016/j.virusres.2018.05.021. Epub 2018 May 29. |
| 18. | Macrophage Activation Marker Soluble CD163 Associated with Fatal and Severe Ebola Virus Disease in Humans1. | McElroy AK, etal., Emerg Infect Dis. 2019 Feb;25(2):290-298. doi: 10.3201/eid2502.181326. |
| 19. | Association between the haptoglobin and heme oxygenase 1 genetic profiles and soluble CD163 in susceptibility to and severity of human malaria. | Mendonça VR, etal., Infect Immun. 2012 Apr;80(4):1445-54. doi: 10.1128/IAI.05933-11. Epub 2012 Jan 30. |
| 20. | MGDs mouse GO annotations | MGD data from the GO Consortium |
| 21. | Impaired immune functions of monocytes and macrophages in Whipple's disease. | Moos V, etal., Gastroenterology. 2010 Jan;138(1):210-20. doi: 10.1053/j.gastro.2009.07.066. Epub 2009 Aug 5. |
| 22. | CD163 favors Mycobacterium leprae survival and persistence by promoting anti-inflammatory pathways in lepromatous macrophages. | Moura DF, etal., Eur J Immunol. 2012 Nov;42(11):2925-36. doi: 10.1002/eji.201142198. Epub 2012 Sep 14. |
| 23. | Serum levels of the soluble haemoglobin scavenger receptor CD163 in MPO-ANCA-associated renal vasculitis. | Nagai M, etal., Scand J Rheumatol. 2016 Oct;45(5):397-403. doi: 10.3109/03009742.2015.1127410. Epub 2016 Apr 20. |
| 24. | 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. |
| 25. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 26. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 27. | Soluble hemoglobin-haptoglobin scavenger receptor CD163 as a lineage-specific marker in the reactive hemophagocytic syndrome. | Schaer DJ, etal., Eur J Haematol. 2005 Jan;74(1):6-10. doi: 10.1111/j.1600-0609.2004.00318.x. |
| 28. | sCD163 levels as a biomarker of disease severity in leprosy and visceral leishmaniasis. | Silva RL, etal., PLoS Negl Trop Dis. 2017 Mar 29;11(3):e0005486. doi: 10.1371/journal.pntd.0005486. eCollection 2017 Mar. |
| 29. | Expression of substance P, neurokinin-1 receptor and immune markers in the brains of individuals with HIV-associated neuropathology. | Spitsin S, etal., J Neurol Sci. 2013 Nov 15;334(1-2):18-23. doi: 10.1016/j.jns.2013.07.008. Epub 2013 Aug 2. |
| 30. | Serum levels of soluble CD163 and soluble CD14 following antibiotic therapy of patients with acute brucellosis. | Sun H, etal., J Infect Dev Ctries. 2019 Aug 31;13(8):714-719. doi: 10.3855/jidc.10602. |
| 31. | Utility of Macrophage-activated Marker CD163 for Diagnosis and Prognosis in Pulmonary Tuberculosis. | Suzuki Y, etal., Ann Am Thorac Soc. 2017 Jan;14(1):57-64. doi: 10.1513/AnnalsATS.201607-528OC. |
| 32. | Altered monocyte phenotype and dysregulated innate cytokine responses among people living with HIV and opioid-use disorder. | Underwood ML, etal., AIDS. 2020 Feb 1;34(2):177-188. doi: 10.1097/QAD.0000000000002416. |
| 33. | Cellular neuroinflammation in a lateral forceps compression model of spinal cord injury. | Vaughn CN, etal., Anat Rec (Hoboken). 2013 Aug;296(8):1229-46. doi: 10.1002/ar.22730. Epub 2013 Jun 17. |
| 34. | Association of steroid use with complicated sigmoid diverticulitis: potential role of activated CD68+/CD163+ macrophages. | von Rahden BH, etal., Langenbecks Arch Surg. 2011 Aug;396(6):759-68. doi: 10.1007/s00423-011-0797-4. Epub 2011 May 7. |
| 35. | Expression of serum sCD163 in patients with liver diseases and inflammatory disorders. | Wang J, etal., Int J Clin Exp Pathol. 2015 Jul 1;8(7):8419-25. eCollection 2015. |
| 36. | Elevated soluble CD163 plasma levels are associated with disease severity in patients with hemorrhagic fever with renal syndrome. | Wang J, etal., PLoS One. 2014 Nov 13;9(11):e112127. doi: 10.1371/journal.pone.0112127. eCollection 2014. |
| 37. | Increased CD163 expression is associated with acute-on-chronic hepatitis B liver failure. | Ye H, etal., World J Gastroenterol. 2013 May 14;19(18):2818-25. doi: 10.3748/wjg.v19.i18.2818. |
| 38. | Liver myofibroblasts up-regulate monocyte CD163 expression via PGE2 during hepatitis B induced liver failure. | Zhang M, etal., J Transl Med. 2014 Mar 6;12:60. doi: 10.1186/1479-5876-12-60. |
| 39. | Soluble Scavenger Receptor CD163 Is Associated with Severe Acute Kidney Injury in Patients with Hantaan Virus Infection. | Zhang Y, etal., Viral Immunol. 2015 May;28(4):241-6. doi: 10.1089/vim.2014.0112. Epub 2015 Mar 19. |
| 40. | Lesional accumulation of CD163+ macrophages/microglia in rat traumatic brain injury. | Zhang Z, etal., Brain Res. 2012 Jun 21;1461:102-10. doi: 10.1016/j.brainres.2012.04.038. Epub 2012 Apr 27. |
Additional References at PubMed
| PMID:10349636 | PMID:11042159 | PMID:11076861 | PMID:11217851 | PMID:11345593 | PMID:12477932 | PMID:12698011 | PMID:16141072 | PMID:16141073 | PMID:16624897 | PMID:17494075 | PMID:21267068 |
| PMID:21427223 | PMID:21873635 | PMID:22793784 | PMID:22807450 | PMID:24194600 | PMID:24275664 | PMID:26242746 | PMID:26376364 | PMID:27294203 | PMID:27318131 | PMID:27354410 | PMID:27480124 |
| PMID:27626380 | PMID:28358264 | PMID:28464519 | PMID:29457790 | PMID:29610117 | PMID:32710083 | PMID:32924185 | PMID:33004694 | PMID:33005412 | PMID:34146541 | PMID:35306602 | PMID:35338195 |
Genomics
