Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal dominant Robinow syndrome 1 | | ISO | RGD:732091 | 8554872 | ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 1 | ClinVar | | autosomal dominant Robinow syndrome 1 | | ISO | RGD:732091 | 8554872 | ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 1 | ClinVar | PMID:29276006 | autosomal dominant Robinow syndrome 1 | | ISO | RGD:732091 | 8554872 | ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 1 | ClinVar | PMID:25759469 | autosomal dominant Robinow syndrome 2 | | ISO | RGD:732091 | 8554872 | ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 2 | ClinVar | PMID:29276006 | autosomal dominant Robinow syndrome 2 | | ISO | RGD:732091 | 8554872 | ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 2 | ClinVar | PMID:25759469 | autosomal dominant Robinow syndrome 3 | | ISO | RGD:732091 | 8554872 | ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 3 | ClinVar | PMID:29276006 | Dwarfism | | ISO | RGD:732091 | 8554872 | ClinVar Annotator: match by term: Short stature | ClinVar | | keratoconus | | ISO | RGD:732091 | 8554872 | ClinVar Annotator: match by term: Keratoconus | ClinVar | | omodysplasia 2 | | ISO | RGD:732091 | 8554872 | ClinVar Annotator: match by term: Autosomal dominant omodysplasia | ClinVar | | omodysplasia 2 | | ISO | RGD:732091 | 8554872 | ClinVar Annotator: match by term: Omodysplasia 2 | ClinVar | PMID:25759469 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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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Gene Ontology Annotations
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Molecular Function
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Molecular Pathway Annotations
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References
References - curated
| 1. | Ahumada A, etal., Science 2002 Dec 6;298(5600):2006-10. |
| 2. | Blankesteijn WM, etal., J Mol Cell Cardiol. 1996 May;28(5):1187-91. |
| 3. | Blankesteijn WM, etal., Nat Med. 1997 May;3(5):541-4. |
| 4. | Catherino WH, etal., Fertil Steril. 2003 Aug;80(2):282-90. |
| 5. | Chan SD, etal., J Biol Chem 1992 Dec 15;267(35):25202-7. |
| 6. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 7. | GOA data from the GO Consortium |
| 8. | Jiang F, etal., J Hepatol. 2006 Sep;45(3):401-9. Epub 2006 May 3. |
| 9. | Kaykas A, etal., Nat Cell Biol. 2004 Jan;6(1):52-8. Epub 2003 Dec 14. |
| 10. | MGD Curation, June 12, 2002 |
| 11. | MGD data from the GO Consortium |
| 12. | Milovanovic T, etal., Int J Oncol. 2004 Nov;25(5):1337-42. |
| 13. | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 14. | Nunnally AP and Parr BA, Dev Genes Evol 2004 Mar;214(3):144-8. Epub 2004 Jan 31. |
| 15. | Pipeline to import KEGG annotations from KEGG into RGD |
| 16. | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
| 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. | Roel Nusse - Howard Hughes Medical Institute and the Department of Developmental Biology at Stanford University, California, USA |
| 21. | Saitoh T, etal., Int J Oncol 2002 Jan;20(1):117-20. |
| 22. | Xavier CP, etal., Cell Signal. 2014 Jan;26(1):94-101. doi: 10.1016/j.cellsig.2013.09.016. Epub 2013 Sep 28. |
Additional References at PubMed
| PMID:10395542 | PMID:10893270 | PMID:12839624 | PMID:15809042 | PMID:18215320 | PMID:18929644 | PMID:19038973 | PMID:19388021 | PMID:20802536 | PMID:20940229 | PMID:21423176 | PMID:22510436 |
| PMID:22521824 | PMID:25120137 | PMID:27878554 | PMID:28733458 | PMID:29276006 |
Genomics
