Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Angelman syndrome | | ISO | GABRB3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Angelman syndrome | ClinVar | PMID:24088041 more ... | autism spectrum disorder | | ISO | GABRB3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar | PMID:21844811 more ... | autistic disorder | | ISO | GABRB3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:21681106 more ... | Childhood Absence Epilepsy 1 | | ISO | GABRB3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11198279 more ... | Childhood Absence Epilepsy 5 | | ISO | GABRB3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:18514161 more ... | chromosome 15q11.2 deletion syndrome | | ISO | GABRB3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar | PMID:25741868 and PMID:31690835 | developmental and epileptic encephalopathy 1 | | ISO | GABRB3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 1 | ClinVar | PMID:25741868 | developmental and epileptic encephalopathy 43 | | ISO | GABRB3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11742254 more ... | Developmental Disabilities | | ISO | GABRB3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:18514161 more ... | epilepsy | | ISO | GABRB3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | PMID:20550555 more ... | Generalized Epilepsy | | ISO | GABRB3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar | PMID:25741868 more ... | genetic disease | | ISO | GABRB3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:17576681 more ... | intellectual disability | | ISO | GABRB3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 more ... | myoepithelioma | | ISO | GABRB3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myoepithelial tumor | ClinVar | | Neurodevelopmental Disorders | | ISO | GABRB3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | Prader-Willi syndrome | | ISO | GABRB3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Prader-Willi syndrome | ClinVar | PMID:28631899 | schizophrenia | | ISO | GABRB3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Schizophrenia | ClinVar | PMID:21681106 and PMID:30208311 | Sleep Initiation and Maintenance Disorders | | ISO | GABRB3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Insomnia | ClinVar | PMID:11742254 more ... | sudden infant death syndrome | | ISO | GABRB3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME | ClinVar | PMID:11742254 more ... | visual epilepsy | | ISO | GABRB3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:18514161 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
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