Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | CACNA1B | Human | Adams-Oliver Syndrome 5 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adams-Oliver syndrome 5 | ClinVar | PMID:16025100 more ... | CACNA1B | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:16826528 more ... | CACNA1B | Human | developmental and epileptic encephalopathy 14 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 14 | ClinVar | PMID:16025100 more ... | CACNA1B | Human | dystonia 23 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dystonia 23 | ClinVar | PMID:21370267 more ... | CACNA1B | Human | dystonia 23 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dystonia 23 | ClinVar | PMID:25741868 and PMID:28492532 | CACNA1B | Human | dystonia 23 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Dystonia 23 | ClinVar | PMID:25741868 | CACNA1B | Human | epilepsy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epilepsy | ClinVar | | CACNA1B | Human | epilepsy | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | PMID:28492532 | CACNA1B | Human | Joubert syndrome 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar | PMID:16025100 more ... | CACNA1B | Human | Kleefstra syndrome 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Kleefstra syndrome 1 | ClinVar | PMID:25741868 | CACNA1B | Human | Kleefstra syndrome 1 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Kleefstra syndrome 1 | ClinVar | PMID:16826528 more ... | CACNA1B | Human | Kleefstra syndrome 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Kleefstra syndrome 1 | ClinVar | PMID:28492532 and PMID:30982612 | CACNA1B | Human | Kleefstra syndrome 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Kleefstra syndrome 1 | ClinVar | PMID:22318994 more ... | CACNA1B | Human | Kleefstra syndrome 1 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Kleefstra syndrome 1 | ClinVar | PMID:28492532 | CACNA1B | Human | Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | ClinVar | | CACNA1B | Human | Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 | CACNA1B | Human | Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | CACNA1B | Human | Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | ClinVar | PMID:28492532 | CACNA1B | Human | Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | ClinVar | PMID:30982612 | CACNA1B | Human | Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | ClinVar | PMID:25741868 more ... | CACNA1B | Human | Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: CACNA1B-related condition | ClinVar | PMID:16199547 more ... | CACNA1B | Human | Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | ClinVar | PMID:17576681 more ... | CACNA1B | Human | primary coenzyme Q10 deficiency 7 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | ClinVar | PMID:28492532 | CACNA1B | Human | Rafiq syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rafiq syndrome | ClinVar | PMID:24566669 more ... | |