Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | congenital myasthenic syndrome | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive | ClinVar | PMID:25741868 | congenital myasthenic syndrome | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar | PMID:12651869 more ... | congenital myasthenic syndrome | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar | PMID:17594401 more ... | congenital myasthenic syndrome | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar | PMID:25741868, PMID:28492532 | congenital myasthenic syndrome | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar | PMID:11791205 more ... | congenital myasthenic syndrome | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar | PMID:12651869 more ... | congenital myasthenic syndrome | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar | PMID:25741868 more ... | congenital myasthenic syndrome | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar | PMID:28492532 | congenital myasthenic syndrome | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive | ClinVar | | congenital myasthenic syndrome 11 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Myasthenic syndrome more ... | ClinVar | PMID:16931511, PMID:25741868 | congenital myasthenic syndrome 11 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Myasthenic syndrome more ... | ClinVar | PMID:11791205 more ... | congenital myasthenic syndrome 11 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Myasthenic syndrome more ... | ClinVar | PMID:16931511, PMID:25741902 | congenital myasthenic syndrome 11 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Myasthenic syndrome more ... | ClinVar | | congenital myasthenic syndrome 11 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Myasthenic syndrome more ... | ClinVar | PMID:25741868 more ... | congenital myasthenic syndrome 11 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Myasthenic syndrome more ... | ClinVar | PMID:12651869 more ... | congenital myasthenic syndrome 11 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Myasthenic syndrome more ... | ClinVar | PMID:25741868, PMID:28492532 | congenital myasthenic syndrome 11 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Myasthenic syndrome more ... | ClinVar | PMID:25741868 | congenital myasthenic syndrome 11 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Myasthenic syndrome more ... | ClinVar | PMID:28492532 | congenital myasthenic syndrome 11 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Myasthenic syndrome more ... | ClinVar | PMID:14504330, PMID:18179903 | congenital myasthenic syndrome 11 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Myasthenic syndrome more ... | ClinVar | PMID:17594401 more ... | congenital myasthenic syndrome 11 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Myasthenic syndrome more ... | ClinVar | PMID:17594401 more ... | congenital myasthenic syndrome 11 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Myasthenic syndrome more ... | ClinVar | PMID:11791205 | congenital myasthenic syndrome 11 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Myasthenic syndrome more ... | ClinVar | PMID:11791205, PMID:12730725 | congenital myasthenic syndrome 11 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Myasthenic syndrome more ... | ClinVar | PMID:12730725 | congenital myasthenic syndrome 11 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Myasthenic syndrome more ... | ClinVar | PMID:16931511 | congenital myasthenic syndrome 4C | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Myasthenic syndrome more ... | ClinVar | PMID:25741868 | 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, PMID:25741902 | fetal akinesia deformation sequence syndrome 1 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Pena-Shokeir syndrome type I | ClinVar | PMID:28492532 | fetal akinesia deformation sequence syndrome 1 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Pena-Shokeir syndrome type I | ClinVar | PMID:11791205 more ... | fetal akinesia deformation sequence syndrome 1 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Pena-Shokeir syndrome type I | ClinVar | PMID:17594401 more ... | fetal akinesia deformation sequence syndrome 1 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Pena-Shokeir syndrome type I | ClinVar | PMID:12651869 more ... | fetal akinesia deformation sequence syndrome 1 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Pena-Shokeir syndrome type I | ClinVar | PMID:15036330, PMID:28492532 | fetal akinesia deformation sequence syndrome 1 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Pena-Shokeir syndrome type I | ClinVar | PMID:17594401 more ... | fetal akinesia deformation sequence syndrome 1 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Pena-Shokeir syndrome type I | ClinVar | PMID:19620612, PMID:28492532 | fetal akinesia deformation sequence syndrome 1 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Pena-Shokeir syndrome type I | ClinVar | PMID:26467025, PMID:28492532 | fetal akinesia deformation sequence syndrome 1 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Pena-Shokeir syndrome type I | ClinVar | PMID:15482960 more ... | fetal akinesia deformation sequence syndrome 1 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Pena-Shokeir syndrome type I | ClinVar | PMID:12796535, PMID:25741868 | fetal akinesia deformation sequence syndrome 1 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Pena-Shokeir syndrome type I | ClinVar | PMID:17686188, PMID:28492532 | fetal akinesia deformation sequence syndrome 1 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Fetal akinesia sequence | ClinVar | PMID:25741868, PMID:31680123 | fetal akinesia deformation sequence syndrome 1 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Pena-Shokeir syndrome type I | ClinVar | PMID:12651869 more ... | fetal akinesia deformation sequence syndrome 1 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Pena-Shokeir syndrome type I | ClinVar | PMID:12807980 more ... | fetal akinesia deformation sequence syndrome 1 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Pena-Shokeir syndrome type I | ClinVar | PMID:14504330 more ... | fetal akinesia deformation sequence syndrome 1 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Pena-Shokeir syndrome type I | ClinVar | PMID:25741868 more ... | fetal akinesia deformation sequence syndrome 1 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Pena-Shokeir syndrome type I | ClinVar | PMID:14729848 more ... | fetal akinesia deformation sequence syndrome 1 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Pena-Shokeir syndrome type I | ClinVar | PMID:25741868 | fetal akinesia deformation sequence syndrome 1 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by OMIM:208150 | ClinVar | | fetal akinesia deformation sequence syndrome 1 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Pena-Shokeir syndrome type I | ClinVar | PMID:25741868, PMID:28492532 | fetal akinesia deformation sequence syndrome 2 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: FETAL AKINESIA DEFORMATION SEQUENCE 2 | ClinVar | PMID:18252226 | fetal akinesia deformation sequence syndrome 2 | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: FETAL AKINESIA DEFORMATION SEQUENCE 2 | ClinVar | PMID:14504330, PMID:18179903 | 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 | myopathy | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Myopathy | ClinVar | PMID:11791205 more ... | myopathy | | ISO | RGD:1314835 | 8554872 | ClinVar Annotator: match by term: Myopathy | ClinVar | PMID:16931511, PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 |
Welcome {{ username}}
Message Center
{{ messageCount }} Messages
Watched Genes
{{$index + 1}}. {{ watchedObject.symbol }} (RGD ID:{{watchedObject.rgdId}})
Watched Ontology Terms
{{gene.symbol}}: {{ gene.description }}
|
| Save what matters to you |
| {{ loginError }} |
| Sign in with your RGD account |
| Create New Account | Recover Password |
Analyze GeneStrainQTL List |
 Gene Annotator (Functional Annotation) unavailable |
 Gene Annotator (Annotation Distribution) unavailable |
 Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable |
Gene Annotator (Functional Annotation) |
Gene Annotator (Annotation Distribution) |
Variant Visualizer (Genomic Variants) |
 InterViewer (Protein-Protein Interactions) unavailable |
 Gviewer (Genome Viewer) unavailable |
 Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable |
InterViewer (Protein-Protein Interactions) |
GViewer (Genome Viewer) |
Variant Visualizer (Damaging Variants) |
 Gene Annotator (Annotation Comparison) unavailable |
 OLGA (Gene List Generator) unavailable |
 |
Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
 MOET (Multi-Ontology Enrichement) unavailable |
 GOLF (Gene-Ortholog Location Finder) unavailable |
|
MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
|
||||||||
Imported Disease Annotations - CTD
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
RGD Manual Annotations
Disease Annotations
Click to see Annotation Detail View
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
|
|
|
References
References - curated
| 1. | Francolini M, etal., J Neuropathol Exp Neurol. 2009 Oct;68(10):1103-15. |
| 2. | GOA data from the GO Consortium |
| 3. | Martinez-Martinez P, etal., Neurobiol Dis. 2009 Jul;35(1):14-23. doi: 10.1016/j.nbd.2009.03.008. Epub 2009 Apr 1. |
| 4. | MGD data from the GO Consortium |
| 5. | OMIM Disease Annotation Pipeline |
| 6. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 7. | RGD automated import pipeline for gene-chemical interactions |
| 8. | 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
