Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | brain disease | | ISO | CACNA1G (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neonatal encephalopathy | ClinVar | PMID:25741868 | cerebellar ataxia | | ISO | CACNA1G (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cerebellar ataxia | ClinVar | PMID:25741868 | cerebellar ataxia type 42 | | ISO | CACNA1G (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spinocerebellar ataxia type 42 | ClinVar | PMID:25741868 more ... | Developmental Disease | | ISO | CACNA1G (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental disorder | ClinVar | PMID:25741868 | epilepsy | | ISO | CACNA1G (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | PMID:28492532 | genetic disease | | ISO | CACNA1G (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 more ... | intellectual disability | | ISO | CACNA1G (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:28492532 | juvenile myoclonic epilepsy | | ISO | CACNA1G (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Juvenile myoclonic epilepsy | ClinVar | | Neurodevelopmental Disorders | | ISO | CACNA1G (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar | PMID:25741868 and PMID:29878067 | spastic ataxia | | ISO | CACNA1G (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spastic ataxia | ClinVar | PMID:25741868 | Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits | | ISO | CACNA1G (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 more ... | trichodontoosseous syndrome | | ISO | CACNA1G (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Tricho-dento-osseous syndrome | ClinVar | PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
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Molecular Pathway Annotations Click to see Annotation Detail View
