Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | POLR2A | Pig | common variable immunodeficiency | | ISO | POLR2A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Common variable immunodeficiency | ClinVar | PMID:28492532 | POLR2A | Pig | congenital myasthenic syndrome 2A | | ISO | POLR2A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A | ClinVar | PMID:28492532 | POLR2A | Pig | Developmental Disease | | ISO | POLR2A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental disorder | ClinVar | PMID:25741868 | POLR2A | Pig | dyskeratosis congenita | | ISO | POLR2A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dyskeratosis congenita | ClinVar | PMID:28492532 | POLR2A | Pig | genetic disease | | ISO | POLR2A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:19344873 more ... | POLR2A | Pig | intellectual disability | | ISO | POLR2A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability and mild | ClinVar | | POLR2A | Pig | Li-Fraumeni syndrome | | ISO | POLR2A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar | PMID:20522432 more ... | POLR2A | Pig | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES | | ISO | POLR2A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:19344873 more ... | POLR2A | Pig | Neurodevelopmental Disorders | | ISO | POLR2A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:24033266 and PMID:25741868 | POLR2A | Pig | very long chain acyl-CoA dehydrogenase deficiency | | ISO | POLR2A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency | ClinVar | PMID:11590124 more ... | POLR2A | Pig | Weissenbacher-Zweymuller syndrome | | ISO | POLR2A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glossoptosis more ... | ClinVar | | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 |
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 - OMIM
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
Cellular Component
Molecular Function
Molecular Pathway Annotations Click to see Annotation Detail View
