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GENE - TERM ANNOTATION REPORT

RGD ID: 12177302
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: KCNH1
Name: potassium voltage-gated channel subfamily H member 1
Acc ID: DOID:9007410
Term: Temple-Baraitser syndrome
Definition: null
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)
KCNH1 ISOKCNH1 (Homo sapiens)7240710OMIM  
KCNH1 ISOKCNH1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: KCNH1 associated disorder | ClinVar Annotator: match by term: Temple-Baraitser syndromePMID:18203178 PMID:20683999 PMID:23020937 PMID:24357613 PMID:25420144 PMID:25741868 PMID:25915598 PMID:26264464 PMID:26818738 PMID:28492532 PMID:32581362 PMID:32860008 PMID:33619735 PMID:36285361
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