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GENE - TERM ANNOTATION REPORT

RGD ID: 1353354
Species: Homo sapiens
RGD Object: Gene
Symbol: KCNQ1
Name: potassium voltage-gated channel subfamily Q member 1
Acc ID: DOID:9003163
Term: Heart Block
Definition: Impaired conduction of cardiac impulse that can occur anywhere along the conduction pathway, such as between the SINOATRIAL NODE and the right atrium (SA block) or between atria and ventricles (AV block). Heart blocks can be classified by the duration, frequency, or completeness of conduction block. Reversibility depends on the degree of structural or functional defects.
Definition Source(s): MESH:D006327
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)
KCNQ1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Conduction disorder of the heartPMID:25741868 PMID:28492532
KCNQ1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Conduction disorder of the heartPMID:10482963 PMID:10704188 PMID:10737999 PMID:10973849 PMID:11530100 PMID:12736279 PMID:14510661 PMID:15935335 PMID:16556866 PMID:19862833 PMID:22309168 PMID:22539601 PMID:23098067 PMID:23392653 PMID:24033266 PMID:24052033 PMID:24552659 PMID:24912595 PMID:25236808 PMID:25705178 PMID:25741868 PMID:26019114 PMID:26546361 PMID:27451284 PMID:27816319 PMID:27831900 PMID:28438721 PMID:28492532 PMID:28720088 PMID:29247119 PMID:29372044 PMID:29379719 PMID:29654130 PMID:29661707 PMID:29740400 PMID:29922582 PMID:32238909 PMID:9323054
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