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GENE - TERM ANNOTATION REPORT

RGD ID: 61855
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Gabra1
Name: gamma-aminobutyric acid type A receptor subunit alpha 1
Acc ID: DOID:0080431
Term: developmental and epileptic encephalopathy 19
Definition: A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life and mild to moderate impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA1 gene on chromosome 5q34. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/24623842 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Gabra1susceptibilityISOGABRA1 (Homo sapiens)7240710OMIM  
Gabra1 ISOGABRA1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Gabra1 ISOGABRA1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 19PMID:16718694 PMID:18414213 PMID:24623842 PMID:25741868 PMID:26467025 PMID:26918889 PMID:27353043 PMID:27521439 PMID:28492532 PMID:28554332 PMID:29389947 PMID:29655203 PMID:32047208 PMID:32238909
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