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GENE - TERM ANNOTATION REPORT

RGD ID: 12455013
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Kcnh1
Name: potassium voltage-gated channel subfamily H member 1
Acc ID: DOID:1059
Term: intellectual disability
Definition: A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills. (DO)
Definition Source(s): http://aaidd.org/intellectual-disability/definition#.WsPDT2VvqaU "DO" "DO", https://en.wikipedia.org/wiki/Intellectual_disability "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)
Kcnh1 ISOKCNH1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndromePMID:25741868 PMID:26264464 PMID:26818738 PMID:28492532 PMID:32581362 PMID:32860008
Kcnh1 ISOKCNH1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severePMID:23020937 PMID:25741868 PMID:26264464 PMID:26818738 PMID:28492532 PMID:32581362 PMID:32860008
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