Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Acute Lymphoblastic Leukemia, with Lymphomatous Features | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Lymphoblastic leukemia more ... | ClinVar | PMID:10982185 more ... | Acute Lymphoblastic Leukemia, with Lymphomatous Features | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Lymphoblastic leukemia more ... | ClinVar | PMID:16843266 more ... | acute megakaryocytic leukemia | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Acute megakaryoblastic leukemia | ClinVar | PMID:16843266 more ... | acute megakaryocytic leukemia | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Acute megakaryoblastic leukemia | ClinVar | PMID:10982185 more ... | acute megakaryocytic leukemia | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Acute megakaryoblastic leukemia | ClinVar | PMID:18397343 more ... | acute megakaryocytic leukemia | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Acute megakaryoblastic leukemia | ClinVar | PMID:16843266 more ... | acute megakaryocytic leukemia | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Acute megakaryoblastic leukemia | ClinVar | PMID:18397343 | adenoid cystic carcinoma | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Adenoid cystic carcinoma | ClinVar | | hereditary spastic paraplegia | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar | | Hydrops Fetalis | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Hydrops fetalis, non-immune | ClinVar | PMID:25741868, PMID:28492532 | Leukemoid Reaction | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Leukemoid Reaction | ClinVar | PMID:18397343 | Leukemoid Reaction | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Leukemoid Reaction | ClinVar | PMID:18397343 more ... | myeloproliferative neoplasm | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Myeloproliferative Neoplasm | ClinVar | PMID:16843266 more ... | NATURAL KILLER CELL ENTEROPATHY | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Natural killer cell enteropathy | ClinVar | | severe combined immunodeficiency | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency disease | ClinVar | PMID:19203666, PMID:28492532 | severe combined immunodeficiency | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency disease | ClinVar | PMID:17644747 more ... | severe combined immunodeficiency | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe Combined Immunodeficiency | ClinVar | PMID:18559588 | severe combined immunodeficiency | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe Combined Immunodeficiency | ClinVar | PMID:24033266 more ... | severe combined immunodeficiency | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe Combined Immune Deficiency | ClinVar | PMID:28492532 | severe combined immunodeficiency | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe Combined Immunodeficiency | ClinVar | | severe combined immunodeficiency | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe Combined Immunodeficiency | ClinVar | PMID:10900158 more ... | severe combined immunodeficiency | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe Combined Immunodeficiency | ClinVar | PMID:10900158 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:28492532 | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:17576681 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:27593409, PMID:28492532 | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:27484032, PMID:28492532 | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:24728327 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:28492532, PMID:28747913 | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:19203666, PMID:28492532 | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:10982185 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:20417861 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:16843266 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:21821710 | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:17644747 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:18397343 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:25741868, PMID:28492532 | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe immunodeficiency more ... | ClinVar | PMID:25741868 | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:24033266 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:10982185 | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:11668610 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:24728327, PMID:28492532 | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:7659163 | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:11741532 | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:7481768 | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:23384681, PMID:28492532 | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:17576681 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:19282076 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:10982185 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:26915675 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:21050946 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:11668621 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:28492532, PMID:29375547 | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:11668621 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:11741532, PMID:7659163 | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:11668621 more ... | Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative | | ISO | RGD:737593 | 8554872 | ClinVar Annotator: match by term: SCID more ... | ClinVar | PMID:25741868, PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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References
References - curated
| 1. | Ban SA, etal., J Clin Immunol. 2014 Nov;34(8):941-53. doi: 10.1007/s10875-014-0088-2. Epub 2014 Sep 10. |
| 2. | Behbod F, etal., J Immunol. 2001 Mar 15;166(6):3724-32. |
| 3. | Bergmann AK, etal., Genes Chromosomes Cancer. 2014 Apr;53(4):309-16. doi: 10.1002/gcc.22141. Epub 2014 Jan 21. |
| 4. | Bingisser RM, etal., J Immunol. 1998 Jun 15;160(12):5729-34. |
| 5. | Bixler GV, etal., BMC Med Genomics. 2011 May 15;4:40. doi: 10.1186/1755-8794-4-40. |
| 6. | Bongfen SE, etal., PLoS One. 2012;7(2):e31012. doi: 10.1371/journal.pone.0031012. Epub 2012 Feb 21. |
| 7. | Bunting KD, etal., Nat Med. 1998 Jan;4(1):58-64. |
| 8. | Degryse S, etal., Blood. 2014 Nov 13;124(20):3092-100. doi: 10.1182/blood-2014-04-566687. Epub 2014 Sep 5. |
| 9. | Elliott NE, etal., Blood. 2011 Oct 6;118(14):3911-21. doi: 10.1182/blood-2010-12-319467. Epub 2011 Aug 5. |
| 10. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 11. | Ge S, etal., Mol Med Rep. 2016 Mar;13(3):2561-9. doi: 10.3892/mmr.2016.4883. Epub 2016 Feb 8. |
| 12. | GOA data from the GO Consortium |
| 13. | Kim BH, etal., Br J Pharmacol. 2011 Sep;164(1):106-18. doi: 10.1111/j.1476-5381.2011.01353.x. |
| 14. | Kirken RA, etal., J Biol Chem. 1994 Jul 22;269(29):19136-41. |
| 15. | Kwitek AE, etal., Genome Res. 2004 Apr;14(4):750-7 |
| 16. | Macchi P, etal., Nature. 1995 Sep 7;377(6544):65-8. |
| 17. | Mahajan S, etal., J Pharmacol Exp Ther. 2015 May;353(2):405-14. doi: 10.1124/jpet.114.221176. Epub 2015 Mar 11. |
| 18. | MGD data from the GO Consortium |
| 19. | Milici AJ, etal., Arthritis Res Ther. 2008;10(1):R14. doi: 10.1186/ar2365. Epub 2008 Jan 30. |
| 20. | Mizuno M, etal., Brain Res Mol Brain Res. 1997 Feb;44(1):163-6. |
| 21. | Murray PJ J Immunol. 2007 Mar 1;178(5):2623-9. |
| 22. | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 23. | OMIM Disease Annotation Pipeline |
| 24. | Orellana DI, etal., Neurotox Res. 2005 Nov;8(3-4):295-304. |
| 25. | Pipeline to import KEGG annotations from KEGG into RGD |
| 26. | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
| 27. | Rane SG and Reddy EP, Oncogene 2002 May 13;21(21):3334-58. |
| 28. | RGD automated data pipeline |
| 29. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 30. | RGD automated import pipeline for gene-chemical interactions |
| 31. | Ross JA, etal., Leukemia. 2014 Apr;28(4):941-4. doi: 10.1038/leu.2013.309. Epub 2013 Oct 23. |
| 32. | Saini MK, etal., Eur J Cancer Prev. 2013 May;22(3):215-28. doi: 10.1097/CEJ.0b013e3283584932. |
| 33. | Sakaguchi H, etal., Nat Genet. 2013 Aug;45(8):937-41. doi: 10.1038/ng.2698. Epub 2013 Jul 7. |
| 34. | Stepkowski SM, etal., Blood. 2002 Jan 15;99(2):680-9. |
| 35. | Takahashi T and Shirasawa T, FEBS Lett 1994 Apr 4;342(2):124-8. |
| 36. | Tentative Sequence Data IDs. TIGR Gene Index, Rat Data |
| 37. | Uckun FM, etal., Blood. 2002 Jun 1;99(11):4192-9. |
| 38. | Walters DK, etal., Cancer Cell. 2006 Jul;10(1):65-75. |
| 39. | Wang G, etal., J Neuroinflammation. 2012 Jul 12;9:170. doi: 10.1186/1742-2094-9-170. |
| 40. | Xu W, etal., PLoS One. 2012;7(2):e31721. doi: 10.1371/journal.pone.0031721. Epub 2012 Feb 16. |
| 41. | Yin L, etal., J Neuroimmunol. 2014 Sep 15;274(1-2):28-37. doi: 10.1016/j.jneuroim.2014.06.022. Epub 2014 Jun 28. |
Additional References at PubMed
| PMID:7538655 | PMID:7594533 | PMID:8022486 | PMID:9498750 | PMID:9973401 | PMID:10485657 | PMID:10872802 | PMID:11909529 | PMID:16020505 | PMID:19220965 | PMID:19233270 | PMID:19414010 |
| PMID:19531027 | PMID:21414324 | PMID:22971540 | PMID:24280217 | PMID:26446793 | PMID:28473442 | PMID:30664158 | PMID:33416962 | PMID:33910370 |
Genomics
