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GENE - TERM ANNOTATION REPORT

CRRD ID: 13945562
Species: Sus scrofa
CRRD Object: Gene
Symbol: GABRA1
Name: gamma-aminobutyric acid type A receptor subunit alpha1
Acc ID: DOID:11832
Term: visual epilepsy
Definition: Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or 'seizure disorder.'
Definition Source(s): MESH:D012640
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)
GABRA1 ISORGD:135323639068941ClinVarClinVar Annotator: match by term: Seizures

PMID:11992121, PMID:16718694, PMID:20551311, PMID:21714819, PMID:22190369, PMID:23934111, PMID:24623842, PMID:24811917, PMID:26918889, PMID:27521439, PMID:9126483
GABRA1 ISORGD:136173909068941ClinVarClinVar Annotator: match by term: Seizures

PMID:28492532
GABRA1 ISORGD:136173949068941ClinVarClinVar Annotator: match by term: Seizures

PMID:28492532
GABRA1 ISORGD:138288999068941ClinVarClinVar Annotator: match by term: Seizures

 
GABRA1 ISORGD:138305729068941ClinVarClinVar Annotator: match by term: Seizures

 
GABRA1 ISORGD:138306089068941ClinVarClinVar Annotator: match by term: Seizures

 
GABRA1 ISORGD:138306709068941ClinVarClinVar Annotator: match by term: Seizures

 
GABRA1 ISORGD:138307329068941ClinVarClinVar Annotator: match by term: Seizures

PMID:28492532
GABRA1 ISORGD:85947419068941ClinVarClinVar Annotator: match by term: Seizures

PMID:11992121, PMID:16718694, PMID:20551311, PMID:21714819, PMID:22190369, PMID:23934111, PMID:24623842, PMID:24811917, PMID:25741868, PMID:26918889, PMID:27521439, PMID:28492532, PMID:9126483
GABRA1 ISORGD:86403549068941ClinVarClinVar Annotator: match by term: Seizures

PMID:16569738, PMID:26467025, PMID:28251550, PMID:28492532
GABRA1 ISORGD:86596249068941ClinVarClinVar Annotator: match by term: Seizures

PMID:18414213, PMID:25741868, PMID:26467025
GABRA1 ISORGD:86596269068941ClinVarClinVar Annotator: match by term: Seizures

PMID:16530959, PMID:25741868, PMID:26467025, PMID:28492532
GABRA1 ISORGD:86911539068941ClinVarClinVar Annotator: match by term: Seizures

PMID:28492532
GABRA1 ISORGD:86911549068941ClinVarClinVar Annotator: match by term: Seizures

PMID:28492532
GABRA1 ISORGD:86911589068941ClinVarClinVar Annotator: match by term: Seizures

PMID:28492532
GABRA1 ISORGD:86911609068941ClinVarClinVar 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.