Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | High Myopia | | ISO | RGD:731607 | 8554872 | ClinVar Annotator: match by term: Severe Myopia | ClinVar | | pleomorphic xanthoastrocytoma | | ISO | RGD:731607 | 8554872 | ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma | ClinVar | PMID:28299358 | Spastic Paraparesis | | ISO | RGD:731607 | 8554872 | ClinVar Annotator: match by term: Spastic paraparesis | ClinVar | PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 |
Welcome {{ username}}
Message Center
{{ messageCount }} Messages
Watched Genes
{{$index + 1}}. {{ watchedObject.symbol }} (RGD ID:{{watchedObject.rgdId}})
Watched Ontology Terms
{{gene.symbol}}: {{ gene.description }}
|
| Save what matters to you |
| {{ loginError }} |
| Sign in with your RGD account |
| Create New Account | Recover Password |
Analyze GeneStrainQTL List |
 Gene Annotator (Functional Annotation) unavailable |
 Gene Annotator (Annotation Distribution) unavailable |
 Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable |
Gene Annotator (Functional Annotation) |
Gene Annotator (Annotation Distribution) |
Variant Visualizer (Genomic Variants) |
 InterViewer (Protein-Protein Interactions) unavailable |
 Gviewer (Genome Viewer) unavailable |
 Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable |
InterViewer (Protein-Protein Interactions) |
GViewer (Genome Viewer) |
Variant Visualizer (Damaging Variants) |
 Gene Annotator (Annotation Comparison) unavailable |
 OLGA (Gene List Generator) unavailable |
 |
Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
 MOET (Multi-Ontology Enrichement) unavailable |
 GOLF (Gene-Ortholog Location Finder) unavailable |
|
MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
|
||||||||
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
Disease Annotations
Click to see Annotation Detail View
|
|
|
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
|
|
|
References
References - curated
| 1. | Carmichael ST, etal., Exp Neurol. 2005 Jun;193(2):291-311. |
| 2. | Davies JE, etal., Eur J Neurosci. 2004 Mar;19(5):1226-42. |
| 3. | Deepa SS, etal., J Biol Chem. 2006 Jun 30;281(26):17789-800. Epub 2006 Apr 27. |
| 4. | Engel M, etal., J Comp Neurol 1996 Feb 26;366(1):34-43. |
| 5. | Forostyak S, etal., Stem Cells. 2014 Aug 11. doi: 10.1002/stem.1812. |
| 6. | Fujikawa A, etal., J Biochem. 2007 Sep;142(3):343-50. Epub 2007 Jul 23. |
| 7. | Fujikawa A, etal., J Biol Chem. 2011 Oct 28;286(43):37137-46. doi: 10.1074/jbc.M111.270140. Epub 2011 Sep 2. |
| 8. | Fukada M, etal., FEBS Lett. 2006 Jul 24;580(17):4051-6. Epub 2006 Jun 27. |
| 9. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 10. | GOA data from the GO Consortium |
| 11. | Grumet M, etal., J Biol Chem 1994 Apr 22;269(16):12142-6. |
| 12. | Hayashi N, etal., Brain Res. 2005 Jul 19;1050(1-2):163-9. |
| 13. | Hayashi N, etal., Mol Cell Neurosci. 2005 Nov;30(3):364-77. Epub 2005 Sep 16. |
| 14. | Hayashi N, etal., Neuroscience. 2005;131(2):331-48. |
| 15. | Inatani M, etal., Invest Ophthalmol Vis Sci. 2001 Jul;42(8):1930-8. |
| 16. | Jones LL, etal., Exp Neurol. 2003 Aug;182(2):399-411. |
| 17. | Katoh-Semba R, etal., Neurosci Res. 1998 Aug;31(4):273-82. |
| 18. | Kawachi H, etal., Proc Natl Acad Sci U S A. 2001 Jun 5;98(12):6593-8. Epub 2001 May 29. |
| 19. | Kurazono S, etal., Brain Res. 2001 Apr 13;898(1):36-48. |
| 20. | Kurazono S, etal., Neurosci Lett. 2001 May 25;304(3):169-72. |
| 21. | Li J, etal., Brain Res Mol Brain Res. 1998 Sep 18;60(1):77-88. |
| 22. | Maeda N and Noda M, Development. 1996 Feb;122(2):647-58. |
| 23. | Maeda N and Noda M, J Cell Biol. 1998 Jul 13;142(1):203-16. |
| 24. | Maeda N, etal., J Biol Chem. 1996 Aug 30;271(35):21446-52. |
| 25. | Maeda N, etal., J Biol Chem. 1999 Apr 30;274(18):12474-9. |
| 26. | Matsui F, etal., J Neurosci Res. 2005 Sep 15;81(6):837-45. |
| 27. | Matsui F, etal., Neuroscience 2002;112(4):773-81. |
| 28. | Maurel P, etal., Proc Natl Acad Sci U S A 1994 Mar 29;91(7):2512-6. |
| 29. | Meyer-Puttlitz B, etal., J Comp Neurol 1996 Feb 26;366(1):44-54. |
| 30. | MGD data from the GO Consortium |
| 31. | Milev P, etal., J Biol Chem 1995 Oct 20;270(42):24650-3. |
| 32. | Milev P, etal., J Biol Chem. 1998 Aug 21;273(34):21439-42. |
| 33. | Milev P, etal., J Cell Biol 1994 Dec;127(6 Pt 1):1703-15. |
| 34. | Muramatsu H, etal., J Cell Sci. 2004 Oct 15;117(Pt 22):5405-15. doi: 10.1242/jcs.01423. Epub 2004 Oct 5. |
| 35. | Naffah-Mazzacoratti MG, etal., Brain Res Bull. 1999 Nov 1;50(4):229-39. |
| 36. | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 37. | Nishiwaki T, etal., J Biochem. 1998 Mar;123(3):458-67. |
| 38. | Okamoto M, etal., Cell Tissue Res. 2001 Nov;306(2):217-29. |
| 39. | Okamoto M, etal., Exp Neurol. 2003 Nov;184(1):179-95. |
| 40. | OMIM Disease Annotation Pipeline |
| 41. | Qi M, etal., J Biol Chem. 2001 May 11;276(19):15868-75. |
| 42. | Ranjan M and Hudson LD, Mol Cell Neurosci. 1996 May;7(5):404-18. |
| 43. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 44. | RGD automated import pipeline for gene-chemical interactions |
| 45. | Robles Y, etal., Neurobiol Learn Mem. 2003 Jul;80(1):80-95. |
| 46. | Sango K, etal., Exp Neurol. 2003 Jul;182(1):1-11. |
| 47. | Tanaka M, etal., J Neurosci. 2003 Apr 1;23(7):2804-14. |
| 48. | Tanga N, etal., Glia. 2019 May;67(5):967-984. doi: 10.1002/glia.23583. Epub 2019 Jan 22. |
| 49. | Tentative Sequence Data IDs. TIGR Gene Index, Rat Data |
| 50. | Thomaidou D, etal., J Neurochem. 2001 Aug;78(4):767-78. |
| 51. | Vitellaro-Zuccarello L, etal., Neuroscience. 2008 Jan 24;151(2):452-66. Epub 2007 Nov 7. |
| 52. | Wilson MT and Snow DM, J Comp Neurol. 2000 Aug 28;424(3):532-46. |
Additional References at PubMed
| PMID:7579589 | PMID:7628014 | PMID:8889548 | PMID:9118959 | PMID:9182584 | PMID:10234020 | PMID:10706604 | PMID:10769382 | PMID:10793198 | PMID:12573468 | PMID:12700241 | PMID:12840014 |
| PMID:16452087 | PMID:16513268 | PMID:17368428 | PMID:18055543 | PMID:18713734 | PMID:19141078 | PMID:19141530 | PMID:19751804 | PMID:21969550 | PMID:24029230 | PMID:25519047 | PMID:26615567 |
| PMID:26857455 | PMID:27374750 | PMID:27445335 | PMID:28717188 |
Genomics
