Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | myocardial infarction | | ISO | RGD:1313932 | 8554872 | ClinVar Annotator: match by OMIM:608446 | ClinVar | PMID:17847002 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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
RGD Manual Annotations
Imported Annotations - PID (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. | Beffert U, etal., Neuron. 2005 Aug 18;47(4):567-79. |
| 2. | Helbecque N, etal., Neurobiol Aging. 2009 Feb;30(2):266-71. Epub 2007 Jul 5. |
| 3. | Hosoda A, etal., Biosci Biotechnol Biochem. 2010;74(3):677-9. Epub 2010 Mar 7. |
| 4. | Jossin Y, etal., Cereb Cortex 2003 Jun;13(6):627-33. |
| 5. | Kim DH, etal., J Biol Chem. 1996 Apr 5;271(14):8373-80. |
| 6. | Kinoshita M, etal., J Biochem. 1985 Jun;97(6):1803-6. |
| 7. | Kosacka J, etal., Neuroscience. 2009 Aug 18;162(2):282-91. Epub 2009 May 3. |
| 8. | Lieb W, etal., J Mol Med. 2008 Oct;86(10):1163-70. Epub 2008 Jul 1. |
| 9. | Ma SL, etal., Neurosci Lett. 2002 Nov 8;332(3):216-8. |
| 10. | MGD data from the GO Consortium |
| 11. | Myant NB Proc Biol Sci. 2010 Feb 7;277(1680):345-51. Epub 2009 Oct 21. |
| 12. | OMIM Disease Annotation Pipeline |
| 13. | Pathak A, etal., Cereb Cortex. 2010 Apr 5. |
| 14. | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
| 15. | Posse De Chaves EI, etal., J Biol Chem. 2000 Jun 30;275(26):19883-90. |
| 16. | Quattrocchi CC, etal., Science 2003 Aug 1;301(5633):649-53. |
| 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. | RGD comprehensive gene curation |
| 21. | Romay-Penabad Z, etal., Blood. 2011 Jan 27;117(4):1408-14. Epub 2010 Nov 30. |
| 22. | Shen GQ, etal., Am J Hum Genet. 2007 Oct;81(4):780-91. Epub 2007 Aug 31. |
| 23. | Stockinger W, etal., J Biol Chem. 1998 Nov 27;273(48):32213-21. |
| 24. | Verbrugghe P, etal., Am J Med Genet B Neuropsychiatr Genet. 2012 Jun;159B(4):392-404. doi: 10.1002/ajmg.b.32042. Epub 2012 Mar 14. |
| 25. | Verhey KJ, etal., J Cell Biol. 2001 Mar 5;152(5):959-70. |
Additional References at PubMed
| PMID:10571240 | PMID:11369809 | PMID:12526740 | PMID:15950758 | PMID:16227578 | PMID:17314095 | PMID:17330141 | PMID:18089558 | PMID:18778775 | PMID:19946888 | PMID:20711475 | PMID:21852430 |
| PMID:22761431 | PMID:23382219 | PMID:25233900 | PMID:25340851 | PMID:27653801 | PMID:29336888 |
Genomics
