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GENE - TERM ANNOTATION REPORT

RGD ID: 12437918
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Kcnh5
Name: potassium voltage-gated channel subfamily H member 5
Acc ID: DOID:0112202
Term: developmental and epileptic encephalopathy
Definition: An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/28276062/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/31926847/ "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)
Kcnh5 ISOKCNH5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathyPMID:16199547 PMID:17576681 PMID:23647072 PMID:24133262 PMID:25741868 PMID:28492532 PMID:31440721 PMID:32725632 PMID:35874597 PMID:36307226 PMID:9536098
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