Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | fetal akinesia deformation sequence syndrome 1 | | ISO | ASPM (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar | PMID:25741868 and PMID:31680123 | gastrointestinal stromal tumor | | ISO | ASPM (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar | PMID:28492532 | genetic disease | | ISO | ASPM (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:14574646 more ... | intellectual disability | | ISO | ASPM (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12355089 more ... | intellectual disability | | ISO | ASPM (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:12355089 more ... | lissencephaly | | ISO | ASPM (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lissencephaly | ClinVar | PMID:19028728 more ... | microcephaly | | ISO | ASPM (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:19028728 more ... | Nervous System Malformations | | ISO | ASPM (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormality of the nervous system | ClinVar | PMID:25741868 | parathyroid carcinoma | | ISO | ASPM (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Parathyroid carcinoma | ClinVar | PMID:28492532 | primary autosomal recessive microcephaly | | ISO | ASPM (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive primary microcephaly | ClinVar | PMID:15355437 more ... | primary autosomal recessive microcephaly 1 | | ISO | ASPM (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly 1 more ... | ClinVar | PMID:18414213 more ... | primary autosomal recessive microcephaly 5 | | ISO | ASPM (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11067780 more ... | retinitis pigmentosa 12 | | ISO | ASPM (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa 12 | ClinVar | PMID:10508521 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 Ontology Annotations Click to see Annotation Detail View
Biological Process
Cellular Component
Molecular Function