Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | congenital disorder of glycosylation type IIc | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Rambam Hasharon syndrome | ClinVar | PMID:28492532 | congenital myasthenic syndrome | | ISO | RGD:1314835 | 8554872 | ClinVar more ... | ClinVar | PMID:11791205 more ... | congenital myasthenic syndrome 11 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Congenital myasthenic syndrome 11 | ClinVar | PMID:11791205 more ... | congenital myasthenic syndrome 4C | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C | ClinVar | PMID:11791205 more ... | Developmental Disabilities | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:16931511 more ... | fetal akinesia deformation sequence syndrome | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 | ClinVar | PMID:12651869 more ... | fetal akinesia deformation sequence syndrome 1 | | ISO | RGD:1314835 | 8554872 | ClinVar more ... | ClinVar | PMID:11791205 more ... | fetal akinesia deformation sequence syndrome 1 | | ISO | RGD:1314835 | 8554872 | ClinVar more ... | ClinVar | PMID:11791205 more ... | fetal akinesia deformation sequence syndrome 2 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Fetal akinesia deformation sequence 2 | ClinVar | PMID:12651869 more ... | Hydrops Fetalis | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Hydrops fetalis | ClinVar | PMID:10449659 more ... | hypertrophic cardiomyopathy | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar | PMID:28492532 | intellectual disability | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | | myopathy | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Myopathy | ClinVar | PMID:11791205 more ... | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Glutamatergic reinnervation and assembly of glutamatergic synapses in adult rat skeletal muscle occurs at cholinergic endplates. | Francolini M, etal., J Neuropathol Exp Neurol. 2009 Oct;68(10):1103-15. |
| 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. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
| 4. | Silencing rapsyn in vivo decreases acetylcholine receptors and augments sodium channels and secondary postsynaptic membrane folding. | Martinez-Martinez P, etal., Neurobiol Dis. 2009 Jul;35(1):14-23. doi: 10.1016/j.nbd.2009.03.008. Epub 2009 Apr 1. |
| 5. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 6. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation 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. | The neuromuscular junction: selective remodeling of synaptic regulators at the nerve/muscle interface. | Witzemann V, etal., Mech Dev. 2013 Jun-Aug;130(6-8):402-11. doi: 10.1016/j.mod.2012.09.004. Epub 2012 Sep 29. |
Additional References at PubMed
| PMID:8416841 | PMID:11312299 | PMID:12388596 | PMID:12486121 | PMID:17119023 | PMID:18420419 | PMID:20053883 | PMID:27225759 |
Genomics
