Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | GABRG2 | Pig | autosomal dominant nocturnal frontal lobe epilepsy | | ISO | GABRG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar | PMID:25741868 more ... | GABRG2 | Pig | benign epilepsy with centrotemporal spikes | | ISO | GABRG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rolandic epilepsy | ClinVar | PMID:17576681 more ... | GABRG2 | Pig | benign familial infantile seizures 6 | | ISO | GABRG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar | PMID:25741868 more ... | GABRG2 | Pig | Childhood Absence Epilepsy 2 | | ISO | GABRG2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11326275 more ... | GABRG2 | Pig | developmental and epileptic encephalopathy 74 | | ISO | GABRG2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:22539854 more ... | GABRG2 | Pig | Dravet syndrome | | ISO | GABRG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy | ClinVar | | GABRG2 | Pig | epilepsy | | ISO | GABRG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | PMID:22539854 more ... | GABRG2 | Pig | epilepsy | | ISO | GABRG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizures | ClinVar | PMID:23708187 more ... | GABRG2 | Pig | esophageal atresia | | ISO | GABRG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Esophageal atresia | ClinVar | | GABRG2 | Pig | familial febrile seizures 8 | | ISO | GABRG2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11326274 more ... | GABRG2 | Pig | Familial Sudden Death | | ISO | GABRG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Sudden unexplained death in childhood | ClinVar | PMID:25741868 | GABRG2 | Pig | generalized epilepsy with febrile seizures plus | | ISO | GABRG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus | ClinVar | | GABRG2 | Pig | Generalized Epilepsy with Febrile Seizures Plus, Type 3 | | ISO | GABRG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: GEFS+, TYPE 3 | ClinVar | PMID:23708187 more ... | GABRG2 | Pig | genetic disease | | ISO | GABRG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:11326274 more ... | GABRG2 | Pig | idiopathic generalized epilepsy | | ISO | GABRG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Idiopathic generalized epilepsy | ClinVar | PMID:16718694 more ... | GABRG2 | Pig | intellectual disability | | ISO | GABRG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:23708187 more ... | GABRG2 | Pig | Lennox-Gastaut syndrome | | ISO | GABRG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lennox-Gastaut syndrome | ClinVar | PMID:22539854 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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