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GENE - TERM ANNOTATION REPORT

RGD ID: 12383392
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: GABRB1
Name: gamma-aminobutyric acid type A receptor subunit beta1
Acc ID: DOID:0080428
Term: developmental and epileptic encephalopathy 45
Definition: A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, severely impaired intellectual development, hypotonia, and other persistent neurologic deficits that has_material_basis_in heterozygous mutation in the GABRB1 gene on chromosome 4p13. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/31618474/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/23934111 "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)
GABRB1 ISOGABRB1 (Homo sapiens)7240710OMIM  
GABRB1 ISOGABRB1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 45 | ClinVar Annotator: match by term: GABRB1-related conditionPMID:17576681 PMID:23934111 PMID:25741868 PMID:26950270 PMID:27273810 PMID:28492532 PMID:31618474 PMID:9536098
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