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GENE - TERM ANNOTATION REPORT

CRRD ID: 12295714
Species: Canis lupus familiaris
CRRD Object: Gene
Symbol: GABRG2
Name: gamma-aminobutyric acid type A receptor subunit gamma2
Acc ID: DOID:0080422
Term: Dravet syndrome
Definition: An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24. (DO)
Definition Source(s): url:https://rarediseases.info.nih.gov/diseases/10430/dravet-syndrome "DO", url:https://www.ncbi.nlm.nih.gov/pubmed/11359211 "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 ISORGD:103960089068941ClinVarClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy

PMID:26467025, PMID:28492532
GABRG2 ISORGD:103960109068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:115824719068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:115828699068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:115830709068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:115830989068941ClinVarClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy

PMID:26467025, PMID:28492532
GABRG2 ISORGD:115841509068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:115842479068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:115843049068941ClinVarClinVar Annotator: match by term: Dravet syndrome

PMID:28492532
GABRG2 ISORGD:115844179068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:115845039068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:115848879068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:115851649068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:115854789068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:115859899068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:115861449068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:115864709068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:115866039068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:115869579068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:115874319068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:115878189068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:115893749068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:115896309068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:115904879068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:115912869068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:115919219068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:115925379068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:115930879068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:115936989068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:115946289068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:115947199068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:116450979068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:116473939068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:116480599068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:116486599068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:116506559068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:116512169068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:116517159068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:116518979068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:116519819068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:116521459068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:116538179068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:116540949068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:116558409068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:116566209068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:116569879068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:116573049068941ClinVarClinVar Annotator: match by term: Dravet syndrome

 
GABRG2 ISORGD:86403569068941ClinVarClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy

PMID:25741868, PMID:26467025, PMID:28492532
GABRG2 ISORGD:86596279068941ClinVarClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy

PMID:25741868, PMID:26467025, PMID:28492532
GABRG2 ISORGD:86596289068941ClinVarClinVar Annotator: match by term: Dravet syndrome

PMID:28492532
GABRG2 ISORGD:86596299068941ClinVarClinVar Annotator: match by term: Dravet syndrome

PMID:25741868, PMID:28492532
GABRG2 ISORGD:86911619068941ClinVarClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy

PMID:28492532
GABRG2 ISORGD:86911709068941ClinVarClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy

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.