Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | AGAT deficiency | | ISO | RGD:1345114 | 8554872 | ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 |
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) |
|
||||||||
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
Imported Annotations - SMPDB
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. | Choi S, etal., Proteomics. 2014 Aug;14(16):1933-42. doi: 10.1002/pmic.201400030. Epub 2014 Jul 9. |
| 2. | De Deken X, etal., J Biol Chem 2000 Jul 28;275(30):23227-33. |
| 3. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 4. | GOA data from the GO Consortium |
| 5. | MGD data from the GO Consortium |
| 6. | Pipeline to import SMPDB annotations from SMPDB into RGD |
| 7. | RGD automated data pipeline |
| 8. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 9. | RGD automated import pipeline for gene-chemical interactions |
Additional References at PubMed
| PMID:11514595 | PMID:12538618 | PMID:15062544 | PMID:16111680 | PMID:19339556 | PMID:20233719 | PMID:20690191 | PMID:22814254 |
Genomics
