Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | SLC6A1 | Pig | Atrioventricular Septal Defect 2 | | ISO | SLC6A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Atrioventricular septal defect more ... | ClinVar | PMID:28492532 | SLC6A1 | Pig | autism spectrum disorder | | ISO | SLC6A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar | PMID:22495306 more ... | SLC6A1 | Pig | autosomal dominant nocturnal frontal lobe epilepsy | | ISO | SLC6A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar | PMID:25865495 more ... | SLC6A1 | Pig | benign epilepsy with centrotemporal spikes | | ISO | SLC6A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rolandic epilepsy | ClinVar | PMID:25741868 more ... | SLC6A1 | Pig | Developmental Disabilities | | ISO | SLC6A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:25363768 more ... | SLC6A1 | Pig | epilepsy | | ISO | SLC6A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | PMID:25741868 more ... | SLC6A1 | Pig | genetic disease | | ISO | SLC6A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:17576681 more ... | SLC6A1 | Pig | intellectual disability | | ISO | SLC6A1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 more ... | SLC6A1 | Pig | Marfanoid Mental Retardation Syndrome, Autosomal | | ISO | SLC6A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability | ClinVar | PMID:25741868 | SLC6A1 | Pig | Myoclonic Epilepsies | | ISO | SLC6A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myoclonic-astatic epilepsy | ClinVar | PMID:17576681 more ... | SLC6A1 | Pig | Myoclonic Epilepsies | | ISO | SLC6A1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:14744863 more ... | SLC6A1 | Pig | myoclonic-atonic epilepsy | | ISO | SLC6A1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:14744863 more ... | SLC6A1 | Pig | myoclonic-atonic epilepsy | | ISO | SLC6A1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:14744863 more ... | SLC6A1 | Pig | myoclonic-atonic epilepsy | | ISO | SLC6A1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:14744863 more ... | SLC6A1 | Pig | Neurodevelopmental Disorders | | ISO | SLC6A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - MGI
Imported Disease Annotations - OMIM
Gene Ontology Annotations Click to see Annotation Detail View
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