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GENE - TERM ANNOTATION REPORT

RGD ID: 62259
Species: Mus musculus
RGD Object: Gene
Symbol: Gabrg2
Name: gamma-aminobutyric acid type A receptor, subunit gamma 2
Acc ID: DOID:0111298
Term: familial febrile seizures 8
Definition: A familial febrile seizures that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/8730286 "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)
Gabrg2 ISOGABRG2 (Homo sapiens)7240710OMIM  
Gabrg2 ISOGABRG2 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Gabrg2 ISOGABRG2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: CONVULSIONS, FAMILIAL FEBRILE, 8 | ClinVar Annotator: match by term: Febrile seizures, familial, 8 | ClinVar Annotator: match by term: GABRG2-related conditionPMID:11326274 PMID:11326275 PMID:11748509 PMID:12097483 PMID:12117362 PMID:15342642 PMID:15470132 PMID:15866052 PMID:16510738 PMID:16924025 PMID:17148443 PMID:17576681 PMID:18094250 PMID:18414213 PMID:21714819 PMID:22539854 PMID:22750526 PMID:23708187 PMID:23935098 PMID:24407264 PMID:25726841 PMID:25730860 PMID:25731747 PMID:25741868 PMID:25741909 PMID:26467025 PMID:27730413 PMID:27864268 PMID:28460589 PMID:28492532 PMID:29100083 PMID:29358611 PMID:31175295 PMID:31216405 PMID:33391346 PMID:35359574 PMID:9536098 PMID:9894880
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