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GENE - TERM ANNOTATION REPORT

RGD ID: 61901
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Gabrd
Name: gamma-aminobutyric acid type A receptor subunit delta
Acc ID: DOID:0111292
Term: idiopathic generalized epilepsy 10
Definition: An idiopathic generalized epilepsy that has_material_basis_in variation in the GABRD on chromosome 1p36.33. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/15115768 "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)
Gabrd ISOGABRD (Homo sapiens)7240710OMIM  
Gabrd ISOGABRD (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 10 | ClinVar Annotator: match by term: GABRD-related conditionPMID:15115768 PMID:16023832 PMID:16256272 PMID:16452673 PMID:17559416 PMID:23216579 PMID:25194483 PMID:25741868 PMID:25741914 PMID:26467025 PMID:28383543 PMID:28492532 PMID:34633442
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