Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autism spectrum disorder | | ISO | GABBR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar | PMID:25741868 | congenital disorder of glycosylation Ii | | ISO | GABBR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I | ClinVar | PMID:20813212 and PMID:28492532 | congenital disorder of glycosylation type II | | ISO | GABBR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: CDG Ii | ClinVar | PMID:20813212 and PMID:28492532 | congenital myasthenic syndrome 14 | | ISO | GABBR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myasthenic syndrome more ... | ClinVar | PMID:20813212 and PMID:28492532 | developmental and epileptic encephalopathy 59 | | ISO | GABBR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 59 | ClinVar | PMID:25262651 more ... | epilepsy | | ISO | GABBR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | PMID:28492532 | Generalized Epilepsy | | ISO | GABBR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar | PMID:16199547 more ... | genetic disease | | ISO | GABBR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 more ... | intellectual disability | | ISO | GABBR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 | nephronophthisis | | ISO | GABBR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Nephronophthisis | ClinVar | PMID:12872123 and PMID:28492532 | Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills | | ISO | GABBR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with poor language and loss of hand skills | ClinVar | PMID:25262651 more ... | nicotine dependence | | ISO | GABBR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Tobacco addiction and susceptibility to | ClinVar | PMID:25741868 and PMID:28492532 | Rett syndrome | | ISO | GABBR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rett syndrome | ClinVar | PMID:25741868 more ... | thoracic aortic aneurysm | | ISO | GABBR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections | ClinVar | PMID:20813212 and PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene Ontology Annotations Click to see Annotation Detail View
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