Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Ritscher-Schinzel syndrome | | ISO | RGD:1605096 | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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
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Disease Annotations
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References
References - curated
| 1. | Gallon M and Cullen PJ, Biochem Soc Trans. 2015 Feb;43(1):33-47. doi: 10.1042/BST20140290. |
| 2. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 3. | OMIM Disease Annotation Pipeline |
| 4. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 5. | RGD automated import pipeline for gene-chemical interactions |
| 6. | Zhao J and Hedera P, J Exp Neurosci. 2015 May 7;9:15-25. doi: 10.4137/JEN.S22969. eCollection 2015. |
Additional References at PubMed
| PMID:19922875 | PMID:20923837 | PMID:23676666 | PMID:24998208 | PMID:26572744 | PMID:27390154 | PMID:30061306 |
Genomics
