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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:0111314
Term: idiopathic generalized epilepsy 13
Definition: An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the GABRA1 on chromosome 5q34. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11992121 "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)
GABRA1susceptibilityISORGD:7309027240710OMIM  
GABRA1 ISORGD:103975199068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

PMID:28492532
GABRA1 ISORGD:115828809068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:115837129068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:115839139068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:115849439068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:115853339068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:115855649068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

PMID:28492532
GABRA1 ISORGD:115857119068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:115865639068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:115869289068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:115870589068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:115878849068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:115881449068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:115890869068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:115893009068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:115895179068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:115905319068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:115908329068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:115913919068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:115922779068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:115926279068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:115935059068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:115944799068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:115946399068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:115951059068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:115962079068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:115962269068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:115964979068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:115968089068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:115980089068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:116491139068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:116510829068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:116523239068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:116549059068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:116563769068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:116577769068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:116597019068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:116610049068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:116627459068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:116628829068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:116636289068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:116637979068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:116639889068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:116640479068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:143991459068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

PMID:25741868
GABRA1 ISORGD:151323139068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

PMID:28492532
GABRA1 ISORGD:288889519068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:288889559068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:288892439068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:288892489068941ClinVarClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5

 
GABRA1 ISORGD:288892519068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:288895479068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:288895539068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:288924879068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:288924929068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:288924959068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:288927979068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:288928009068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:288928029068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:288928069068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:288931039068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:288931079068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:288931109068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:288931139068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:288931179068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:288931209068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:288993439068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:288993509068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:288993559068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:288993619068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:288996139068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:288996179068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:288996209068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:288996969068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:288996989068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:288998769068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:288998799068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:288998819068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:288998849068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:289030699068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:289030719068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:289030749068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:289035399068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:289035429068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:289035449068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:289035459068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:289035499068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:289038099068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:289038139068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:85947419068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

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:86001149068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

PMID:11992121, PMID:18534981, PMID:20551311
GABRA1 ISORGD:86403539068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

PMID:25741868
GABRA1 ISORGD:86403549068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

PMID:16569738, PMID:26467025, PMID:28251550, PMID:28492532
GABRA1 ISORGD:86578229068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

PMID:21714819
GABRA1 ISORGD:86578239068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

PMID:21714819
GABRA1 ISORGD:86596249068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

PMID:18414213, PMID:25741868, PMID:26467025
GABRA1 ISORGD:86596259068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

PMID:25741868
GABRA1 ISORGD:86596269068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

PMID:16530959, PMID:25741868, PMID:26467025, PMID:28492532
GABRA1 ISORGD:86911519068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:86911529068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

 
GABRA1 ISORGD:86911549068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

PMID:28492532
GABRA1 ISORGD:86911569068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

PMID:28492532
GABRA1 ISORGD:86911589068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

PMID:28492532
GABRA1 ISORGD:86911609068941ClinVarClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

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.