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GENE - TERM ANNOTATION REPORT

CRRD ID: 13979116
Species: Sus scrofa
CRRD 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): url:https://www.ncbi.nlm.nih.gov/pubmed/15115768 "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)
GABRDsusceptibilityISORGD:7336817240710OMIM  
GABRD ISORGD:134821079068941ClinVarClinVar Annotator: match by term: Epilepsy, idiopathic generalized 10

PMID:25741868, PMID:26467025
GABRD ISORGD:135016929068941ClinVarClinVar Annotator: match by term: Epilepsy, idiopathic generalized 10

PMID:28492532
GABRD ISORGD:138314189068941ClinVarClinVar Annotator: match by term: Epilepsy, idiopathic generalized 10

 
GABRD ISORGD:86001139068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10

PMID:15115768, PMID:16023832, PMID:16256272, PMID:16452673, PMID:17559416, PMID:23216579, PMID:26467025, PMID:28383543, PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.