Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY | | ISO | RGD:1343470 | 7240710 | | OMIM | | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
| 3. | Subunit structure of the mammalian exocyst complex. | Kee Y, etal., Proc Natl Acad Sci U S A 1997 Dec 23;94(26):14438-43. |
| 4. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 5. | SH3BP1, an exocyst-associated RhoGAP, inactivates Rac1 at the front to drive cell motility. | Parrini MC, etal., Mol Cell. 2011 Jun 10;42(5):650-61. doi: 10.1016/j.molcel.2011.03.032. |
| 6. | GOA pipeline | RGD automated data pipeline |
| 7. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 8. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 9. | An aPKC-exocyst complex controls paxillin phosphorylation and migration through localised JNK1 activation. | Rosse C, etal., PLoS Biol. 2009 Nov;7(11):e1000235. Epub 2009 Nov 3. |
Additional References at PubMed
| PMID:12954101 | PMID:14525976 | PMID:15920473 | PMID:19946888 | PMID:24056301 | PMID:24344185 | PMID:26582389 | PMID:30053369 |
Genomics
