Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Adams-Oliver Syndrome 5 | | ISO | CACNA1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adams-Oliver syndrome 5 | ClinVar | PMID:16025100 more ... | autosomal dominant intellectual developmental disorder 8 | | ISO | CACNA1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:16826528 more ... | developmental and epileptic encephalopathy 14 | | ISO | CACNA1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 14 | ClinVar | PMID:16025100 more ... | dystonia 23 | | ISO | CACNA1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dystonia 23 | ClinVar | PMID:21370267 more ... | epilepsy | | ISO | CACNA1B (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | genetic disease | | ISO | CACNA1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | Joubert syndrome 1 | | ISO | CACNA1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar | PMID:16025100 more ... | Kleefstra syndrome 1 | | ISO | CACNA1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Kleefstra syndrome 1 | ClinVar | PMID:16826528 more ... | Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements | | ISO | CACNA1B (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16199547 more ... | primary coenzyme Q10 deficiency 7 | | ISO | CACNA1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | ClinVar | PMID:28492532 | Rafiq syndrome | | ISO | CACNA1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rafiq syndrome | ClinVar | PMID:24566669 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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