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GENE - TERM ANNOTATION REPORT

RGD ID: 68385
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cacnb4
Name: calcium voltage-gated channel auxiliary subunit beta 4
Acc ID: DOID:0111323
Term: idiopathic generalized epilepsy 9
Definition: An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CACNB4 on chromosome 2q23.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10762541 "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)
Cacnb4susceptibilityISOCACNB4 (Homo sapiens)7240710OMIM  
Cacnb4 ISOCACNB4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 9 | ClinVar Annotator: match by term: Epilepsy, juvenile myoclonic, susceptibility to, 6PMID:10762541 PMID:25741868 PMID:26467025 PMID:28492532
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