Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Aicardi-Goutieres syndrome | | ISO | RGD:732354 | 8554872 | ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar | | Aicardi-Goutieres Syndrome 3 | | ISO | RGD:732354 | 8554872 | ClinVar Annotator: match by term: Aicardi Goutieres syndrome 3 | ClinVar | | familial temporal lobe epilepsy 8 | | ISO | RGD:732354 | 8554872 | ClinVar Annotator: match by term: Epilepsy more ... | ClinVar | PMID:28492532 | intellectual disability | | ISO | RGD:732354 | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES | | ISO | RGD:732354 | 8554872 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES more ... | ClinVar | PMID:32822602 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
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Imported Annotations - PID (archival)
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Molecular Pathway Annotations
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References
References - curated
| 1. | Aksenov MY, etal., Brain Res 2003 Oct 10;987(1):1-9. |
| 2. | Beckerman R and Prives C, Cold Spring Harb Perspect Biol. 2010 Aug;2(8):a000935. doi: 10.1101/cshperspect.a000935. Epub 2010 Apr 28. |
| 3. | Bhatti S, etal., Cell Mol Life Sci. 2011 Sep;68(18):2977-3006. doi: 10.1007/s00018-011-0683-9. Epub 2011 May 2. |
| 4. | Cao X and Sudhof TC, Science. 2001 Jul 6;293(5527):115-20. |
| 5. | Carlson ES, etal., Brain Res. 2008 Aug 7. |
| 6. | Coffey K, etal., PLoS One. 2012;7(10):e45539. doi: 10.1371/journal.pone.0045539. Epub 2012 Oct 8. |
| 7. | Frank SR, etal., EMBO Rep 2003 Jun;4(6):575-80. |
| 8. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 9. | GOA data from the GO Consortium |
| 10. | Gorrini C, etal., Nature. 2007 Aug 30;448(7157):1063-7. |
| 11. | Kruse JP and Gu W, Cell. 2009 May 15;137(4):609-22. doi: 10.1016/j.cell.2009.04.050. |
| 12. | MGD data from the GO Consortium |
| 13. | Muckova K, etal., Am J Physiol Renal Physiol. 2006 Jan;290(1):F70-9. Epub 2005 Jun 28. |
| 14. | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 15. | Patani N, etal., Anticancer Res. 2011 Dec;31(12):4115-25. |
| 16. | Peserico A and Simone C, J Biomed Biotechnol. 2011;2011:371832. doi: 10.1155/2011/371832. Epub 2010 Dec 5. |
| 17. | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
| 18. | Prendergast MA, etal., Brain Res 2002 Nov 8;954(2):300-7. |
| 19. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 20. | RGD automated import pipeline for gene-chemical interactions |
| 21. | Sheridan AM, etal., Mol Cell Biol. 2001 Jul;21(14):4470-81. |
| 22. | Stante M, etal., Proc Natl Acad Sci U S A. 2009 Mar 31;106(13):5093-8. doi: 10.1073/pnas.0810869106. Epub 2009 Mar 12. |
| 23. | Stracker TH, etal., Front Genet. 2013 Mar 25;4:37. doi: 10.3389/fgene.2013.00037. eCollection 2013. |
| 24. | Tetievsky A and Horowitz M, J Appl Physiol (1985). 2010 Nov;109(5):1552-61. doi: 10.1152/japplphysiol.00469.2010. Epub 2010 Sep 2. |
| 25. | Watanabe S and Peterson CL, Cold Spring Harb Symp Quant Biol. 2010;75:35-42. doi: 10.1101/sqb.2010.75.063. Epub 2011 Apr 18. |
Additional References at PubMed
| PMID:10966108 | PMID:12464179 | PMID:12477932 | PMID:14966270 | PMID:15489334 | PMID:15944124 | PMID:16387653 | PMID:17360565 | PMID:17996965 | PMID:18397884 | PMID:22539723 | PMID:23637611 |
| PMID:24012345 | PMID:24075908 | PMID:24463511 | PMID:27454757 | PMID:30704899 |
Genomics
