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GENE - TERM ANNOTATION REPORT

RGD ID: 12646639
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Cacna1h
Name: calcium voltage-gated channel subunit alpha1 H
Acc ID: DOID:1827
Term: idiopathic generalized epilepsy
Definition: An epilepsy syndrome that is characterized by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Epilepsy "DO" "DO", http://en.wikipedia.org/wiki/Generalized_epilepsy "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)
Cacna1h ISOCACNA1H (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Generalised epilepsy | ClinVar Annotator: match by term: Idiopathic generalized epilepsyPMID:12891677 PMID:14729682 PMID:15048902 PMID:15852375 PMID:15888660 PMID:16199547 PMID:16529636 PMID:16754686 PMID:17576681 PMID:17696120 PMID:21099341 PMID:23757202 PMID:24277868 PMID:24972929 PMID:25640679 PMID:25741868 PMID:25773295 PMID:25907736 PMID:26467025 PMID:26587300 PMID:26706850 PMID:27066544 PMID:27148582 PMID:27331657 PMID:27729216 PMID:28166811 PMID:28488083 PMID:28492532 PMID:28842445 PMID:30860130 PMID:31070086 PMID:31130284 PMID:31139143 PMID:31651342 PMID:32227660 PMID:33083721 PMID:9536098
Cacna1h ISOCACNA1H (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Idiopathic generalized epilepsyPMID:12891677 PMID:14729682 PMID:15048902 PMID:15852375 PMID:15888660 PMID:16199547 PMID:16529636 PMID:16754686 PMID:17576681 PMID:17696120 PMID:21099341 PMID:21703448 PMID:23757202 PMID:24277868 PMID:24972929 PMID:25640679 PMID:25741868 PMID:25773295 PMID:25907736 PMID:26467025 PMID:26587300 PMID:26706850 PMID:27066544 PMID:27148582 PMID:27331657 PMID:27729216 PMID:28166811 PMID:28488083 PMID:28492532 PMID:28842445 PMID:30860130 PMID:31070086 PMID:31130284 PMID:31139143 PMID:31651342 PMID:32165824 PMID:32227660 PMID:33083721 PMID:33478561 PMID:35910327 PMID:36397158 PMID:9536098
Cacna1h ISOCACNA1H (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Idiopathic generalized epilepsyPMID:12891677 PMID:14729682 PMID:15048902 PMID:15852375 PMID:15888660 PMID:16199547 PMID:16529636 PMID:16754686 PMID:17576681 PMID:17696120 PMID:21099341 PMID:21703448 PMID:23757202 PMID:24277868 PMID:24972929 PMID:25640679 PMID:25741868 PMID:25773295 PMID:25907736 PMID:26467025 PMID:26587300 PMID:26706850 PMID:27066544 PMID:27148582 PMID:27331657 PMID:27729216 PMID:28166811 PMID:28488083 PMID:28492532 PMID:28842445 PMID:30860130 PMID:31070086 PMID:31130284 PMID:31139143 PMID:31651342 PMID:32227660 PMID:33083721 PMID:33478561 PMID:35910327 PMID:36397158 PMID:9536098
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