Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Cacna2d2 | Squirrel | Cerebellar Atrophy with Seizures and Variable Developmental Delay | | ISO | CACNA2D2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cerebellar atrophy with seizures and variable developmental delay | ClinVar | PMID:17576681 more ... | Cacna2d2 | Squirrel | developmental and epileptic encephalopathy | | ISO | CACNA2D2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar | PMID:16199547 more ... | Cacna2d2 | Squirrel | early infantile epileptic encephalopathy | | ISO | CACNA2D2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar | PMID:16199547 more ... | Cacna2d2 | Squirrel | epilepsy | | ISO | CACNA2D2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | PMID:28492532 | Cacna2d2 | Squirrel | Generalized Epilepsy | | ISO | CACNA2D2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar | | Cacna2d2 | Squirrel | genetic disease | | ISO | CACNA2D2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:17576681 more ... | Cacna2d2 | Squirrel | primary ciliary dyskinesia | | ISO | CACNA2D2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary ciliary dyskinesia | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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