Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital | | ISO | RGD:1321177 | 8554872 | ClinVar Annotator: match by OMIM:614748 | ClinVar | PMID:25810266 | Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital | | ISO | RGD:1321177 | 8554872 | ClinVar Annotator: match by term: Interstitial lung disease more ... | ClinVar | PMID:25741868 | Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital | | ISO | RGD:1321177 | 8554872 | ClinVar Annotator: match by term: Interstitial lung disease more ... | ClinVar | | Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital | | ISO | RGD:1321177 | 8554872 | ClinVar Annotator: match by OMIM:614748 | ClinVar | PMID:22512483 | Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital | | ISO | RGD:1321177 | 8554872 | ClinVar Annotator: match by OMIM:614748 | ClinVar | PMID:24088041, PMID:26633545 | osteogenesis imperfecta type 1 | | ISO | RGD:1321177 | 8554872 | ClinVar Annotator: match by term: Osteogenesis imperfecta type I | ClinVar | PMID:25944380 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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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References
References - curated
| 1. | Bryant JE, etal., J Mol Cell Cardiol. 2009 Feb;46(2):186-92. Epub 2008 Nov 7. |
| 2. | Chen CA, etal., Transl Res. 2006 Sep;148(3):134-41. |
| 3. | DeFreitas MF, etal., Neuron. 1995 Aug;15(2):333-43. |
| 4. | Dina OA, etal., Eur J Neurosci. 2004 Feb;19(3):634-42. |
| 5. | Dina OA, etal., Pain. 2005 May;115(1-2):191-203. |
| 6. | Fatemi SH Mol Psychiatry. 2005 Mar;10(3):251-7. |
| 7. | Gatlin JC, etal., Mol Biol Cell. 2006 Dec;17(12):5115-30. Epub 2006 Sep 20. |
| 8. | GOA data from the GO Consortium |
| 9. | Hynes RO Cell 2002 Sep 20;110(6):673-87. |
| 10. | Lin S, etal., J Renin Angiotensin Aldosterone Syst. 2010 Jun 4. |
| 11. | Liu S, etal., J Cell Physiol. 2010 Apr;223(1):134-42. |
| 12. | MGD data from the GO Consortium |
| 13. | Mutz D, etal., J Neurosci Res. 2006 Dec;84(8):1759-70. |
| 14. | Nosaka H, etal., J Nephrol. 2009 Jul-Aug;22(4):484-90. |
| 15. | OMIM Disease Annotation Pipeline |
| 16. | RGD automated data pipeline |
| 17. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 18. | RGD automated import pipeline for gene-chemical interactions |
| 19. | Sendag F, etal., Eur J Obstet Gynecol Reprod Biol. 2010 May;150(1):57-60. Epub 2010 Mar 1. |
| 20. | Sugisawa M, etal., J Periodontal Res. 2010 Apr;45(2):284-91. |
| 21. | Takada Y, etal., Genome Biol. 2007;8(5):215. |
| 22. | Terracio L, etal., Circ Res. 1991 Mar;68(3):734-44. |
| 23. | Tomaselli KJ, etal., Neuron. 1990 Nov;5(5):651-62. |
| 24. | Williams SJ, etal., Reprod Fertil Dev. 2010;22(4):718-32. |
Additional References at PubMed
| PMID:7534781 | PMID:9553049 | PMID:10455171 | PMID:11891657 | PMID:12591243 | PMID:12904471 | PMID:14566019 | PMID:15091337 | PMID:16459165 | PMID:16557522 | PMID:16750664 | PMID:19056867 |
| PMID:19581412 | PMID:19933311 | PMID:20563599 | PMID:21237282 | PMID:21310825 | PMID:21423176 | PMID:23154389 | PMID:23376485 | PMID:23382219 | PMID:23595732 | PMID:24220332 | PMID:24621570 |
| PMID:25063885 | PMID:28701000 |
Genomics
