Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | adenylosuccinase lyase deficiency | | ISO | CACNG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency | ClinVar | PMID:28492532 | autosomal dominant intellectual developmental disorder 10 | | ISO | CACNG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability and autosomal dominant 10 | ClinVar | PMID:21376300 and PMID:25741868 | epilepsy | | ISO | CACNG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | | genetic disease | | ISO | CACNG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 | high grade glioma | | ISO | CACNG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ependymoma | ClinVar | | Neurodevelopmental Disorders | | ISO | CACNG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - OMIM
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