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
| # | Reference Title | Reference Citation |
| 1. | Retromer and sorting nexins in endosomal sorting. | Gallon M and Cullen PJ, Biochem Soc Trans. 2015 Feb;43(1):33-47. doi: 10.1042/BST20140290. |
| 2. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | 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 | OMIM Disease Annotation Pipeline |
| 4. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 5. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 6. | Strumpellin and Spartin, Hereditary Spastic Paraplegia Proteins, are Binding Partners. | 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
