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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:1826
Term: epilepsy
Definition: A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313)
Definition Source(s): MESH:D004827, url:http://books.google.com/books?id=YXqX04Te9ioC&printsec=frontcover&source=gbs_ge_summary_r&cad=0#v=onepage&q&f=false "DO", url:http://www.merriam-webster.com/medlineplus/epilepsy "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:103960159068941ClinVarClinVar Annotator: match by term: Seizures

PMID:28492532
GABRG2 ISORGD:115824719068941ClinVarClinVar Annotator: match by term: Seizures

 
GABRG2 ISORGD:116517159068941ClinVarClinVar Annotator: match by term: Seizures

 
GABRG2 ISORGD:116538179068941ClinVarClinVar Annotator: match by term: Seizures

 
GABRG2 ISORGD:137990159068941ClinVarClinVar Annotator: match by term: Seizures

 
GABRG2 ISORGD:138290659068941ClinVarClinVar Annotator: match by term: Seizures

 
GABRG2 ISORGD:138296069068941ClinVarClinVar Annotator: match by term: Seizures

 
GABRG2 ISORGD:138305079068941ClinVarClinVar Annotator: match by term: Seizures

PMID:28492532
GABRG2 ISORGD:138305759068941ClinVarClinVar Annotator: match by term: Seizures

 
GABRG2 ISORGD:253168079068941ClinVarClinVar Annotator: match by term: Seizures

PMID:25741868
GABRG2 ISORGD:85726009068941ClinVarClinVar Annotator: match by term: Seizures

PMID:23708187, PMID:25726841, PMID:25730860, PMID:27864268, PMID:28492532, PMID:29100083, PMID:29358611
GABRG2 ISORGD:86403569068941ClinVarClinVar Annotator: match by term: Seizures

PMID:25741868, PMID:26467025, PMID:28492532
GABRG2 ISORGD:86596279068941ClinVarClinVar Annotator: match by term: Seizures

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

PMID:28492532
GABRG2 ISORGD:86596299068941ClinVarClinVar Annotator: match by term: Seizures

PMID:25741868, PMID:28492532
GABRG2 ISORGD:86911659068941ClinVarClinVar Annotator: match by term: Seizures

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.