Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Chromosome 11, Partial Trisomy 11q | | ISO | RGD:1350722 | 8554872 | ClinVar Annotator: match by term: Distal trisomy 11q | ClinVar | PMID:25741868 | cleft lip-palate-ectodermal dysplasia syndrome | | ISO | RGD:1350722 | 8554872 | ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome | ClinVar | PMID:10932188 more ... | Dwarfism | | ISO | RGD:1350722 | 8554872 | ClinVar Annotator: match by term: Short stature | ClinVar | PMID:32581362 | Glycogen Storage Disease IB | | ISO | RGD:1350722 | 8554872 | ClinVar Annotator: match by term: Glucose-6-phosphate transport defect | ClinVar | PMID:28492532 | orofacial cleft 7 | | ISO | RGD:1350722 | 8554872 | ClinVar Annotator: match by term: Orofacial cleft 7 | ClinVar | PMID:10932188, PMID:11559849 | RASopathy | | ISO | RGD:1350722 | 8554872 | ClinVar Annotator: match by term: RASopathy | ClinVar | PMID:28492532 | schizophrenia | | ISO | RGD:1350722 | 8554872 | ClinVar Annotator: match by term: Schizophrenia | ClinVar | PMID:21681106, PMID:30208311 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | 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. |
| 2. | Temporal and spatial localization of nectin-1 and l-afadin during synaptogenesis in hippocampal neurons. | Lim ST, etal., J Comp Neurol. 2008 Mar 10;507(2):1228-44. |
| 3. | Nectin: an adhesion molecule involved in formation of synapses. | Mizoguchi A, etal., J Cell Biol. 2002 Feb 4;156(3):555-65. Epub 2002 Feb 4. |
| 4. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 5. | Evaluation of cell survival, DNA double strand breaks, and DNA synthesis during concurrent camptothecin and X-radiation treatments. | Ng CE, etal., Int J Cancer 2001 Oct 20;96(5):277-85. |
| 6. | Contacts between the commissural axons and the floor plate cells are mediated by nectins. | Okabe N, etal., Dev Biol. 2004 Sep 15;273(2):244-56. |
| 7. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 8. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 9. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 10. | Entry of herpes simplex virus type 1 into primary sensory neurons in vitro is mediated by Nectin-1/HveC. | Richart SM, etal., J Virol. 2003 Mar;77(5):3307-11. |
| 11. | Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. | Suzuki K, etal., Nat Genet. 2000 Aug;25(4):427-30. |
| 12. | Interneurite affinity is regulated by heterophilic nectin interactions in concert with the cadherin machinery. | Togashi H, etal., J Cell Biol. 2006 Jul 3;174(1):141-51. Epub 2006 Jun 26. |
Additional References at PubMed
| PMID:10225955 | PMID:11090177 | PMID:11277703 | PMID:12011057 | PMID:12438620 | PMID:12515806 | PMID:12826663 | PMID:15728677 | PMID:18703497 | PMID:21982860 | PMID:22512338 | PMID:22902367 |
| PMID:23418609 | PMID:23533177 |
Genomics
