Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | craniosynostosis | | ISO | RGD:730907 | 8554872 | ClinVar Annotator: match by term: Syndromic craniosynostosis | ClinVar | | schizophrenia | | ISO | RGD:730907 | 8554872 | ClinVar Annotator: match by term: Schizophrenia | ClinVar | PMID:21681106, PMID:30208311 | syndromic intellectual disability | | ISO | RGD:730907 | 8554872 | ClinVar Annotator: match by term: Syndromic intellectual disability | ClinVar | | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
Cellular Component
Molecular Function
Molecular Pathway Annotations Click to see Annotation Detail View
Imported Annotations - KEGG (archival)
Disease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology Annotations
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Biological Process
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Cellular Component
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Molecular Function
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References
References - curated
| 1. | Bettler B, etal., Neuron 1992 Feb;8(2):257-65. |
| 2. | Feligioni M, etal., J Neurochem. 2006 Oct;99(2):549-60. Epub 2006 Aug 11. |
| 3. | Garcia EP, etal., Neuron. 1998 Oct;21(4):727-39. |
| 4. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 5. | GOA data from the GO Consortium |
| 6. | Jiang HX, etal., J Neurosci Res. 2007 Oct;85(13):2960-70. |
| 7. | Kim M, etal., Auton Neurosci. 2008 Feb 29;138(1-2):83-90. Epub 2007 Dec 21. |
| 8. | Lomeli H, etal., FEBS Lett 1992 Jul 28;307(2):139-43. |
| 9. | Lu CR, etal., J Comp Neurol. 2005 May 30;486(2):169-78. |
| 10. | Lucifora S, etal., Pain. 2006 Jan;120(1-2):97-105. Epub 2005 Dec 15. |
| 11. | Mathern GW, etal., Neurobiol Dis. 1998 Sep;5(3):151-76. |
| 12. | MGD data from the GO Consortium |
| 13. | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 14. | Paternain AV, etal., J Neurosci. 2000 Jan 1;20(1):196-205. |
| 15. | Pipeline to import KEGG annotations from KEGG into RGD |
| 16. | Ren Z, etal., J Neurosci. 2003 Jul 23;23(16):6608-16. |
| 17. | RGD automated data pipeline |
| 18. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 19. | RGD automated import pipeline for gene-chemical interactions |
| 20. | Sander T, etal., Am J Med Genet 1997 Jul 25;74(4):416-21. |
| 21. | Santiago AR, etal., Invest Ophthalmol Vis Sci. 2006 Sep;47(9):4130-7. |
| 22. | Schiffer HH, etal., Neuron 1997 Nov;19(5):1141-6. |
| 23. | Smolders I, etal., Nat Neurosci 2002 Aug;5(8):796-804. |
| 24. | Sussman HM, etal., J Speech Hear Res. 1975 Mar;18(1):74-81. |
| 25. | Wyneken U, etal., Neuroscience. 2001;102(1):65-74. |
Additional References at PubMed
| PMID:1310861 | PMID:1321949 | PMID:1373632 | PMID:12477932 | PMID:12533602 | PMID:12954862 | PMID:15796762 | PMID:16814779 | PMID:17110338 | PMID:17174564 | PMID:22114280 | PMID:22345355 |
| PMID:22509486 | PMID:23288040 | PMID:23975096 |
Genomics
