Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Adams-Oliver Syndrome 5 | | ISO | CACNA1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adams-Oliver syndrome 5 | ClinVar | PMID:16025100 more ... | autosomal dominant intellectual developmental disorder 8 | | ISO | CACNA1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:16826528 more ... | developmental and epileptic encephalopathy 14 | | ISO | CACNA1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 14 | ClinVar | PMID:16025100 more ... | dystonia 23 | | ISO | CACNA1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dystonia 23 | ClinVar | PMID:21370267 more ... | epilepsy | | ISO | CACNA1B (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | genetic disease | | ISO | CACNA1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | Joubert syndrome 1 | | ISO | CACNA1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar | PMID:16025100 more ... | Kleefstra syndrome 1 | | ISO | CACNA1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Kleefstra syndrome 1 | ClinVar | PMID:16826528 more ... | Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements | | ISO | CACNA1B (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16199547 more ... | primary coenzyme Q10 deficiency 7 | | ISO | CACNA1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | ClinVar | PMID:28492532 | Rafiq syndrome | | ISO | CACNA1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rafiq syndrome | ClinVar | PMID:24566669 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 |
Welcome {{ username}}
Message Center
{{ messageCount }} Messages
Watched Genes
{{$index + 1}}. {{ watchedObject.symbol }} (RGD ID:{{watchedObject.rgdId}})
Watched Ontology Terms
{{gene.symbol}}: {{ gene.description }}
|
| You must be logged in to use this feature |
| {{ loginError }} |
|
|
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
