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GENE - TERM ANNOTATION REPORT

RGD ID: 12715923
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Pkp2
Name: plakophilin 2
Acc ID: DOID:2843
Term: long QT syndrome
Definition: An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles). (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Long_QT_syndrome "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)
Pkp2 ISOPKP2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Long QT syndromePMID:16567567 PMID:17521752 PMID:18662195 PMID:19533476 PMID:19569224 PMID:19955750 PMID:20129281 PMID:20400443 PMID:20829228 PMID:20857253 PMID:21397041 PMID:21606390 PMID:21636032 PMID:21859740 PMID:23137101 PMID:23299917 PMID:23810883 PMID:23861362 PMID:24033266 PMID:24200904 PMID:24352520 PMID:24618965 PMID:24704780 PMID:24832006 PMID:25351510 PMID:25637381 PMID:25676813 PMID:25741868 PMID:26138720 PMID:26332594 PMID:26656175 PMID:26743238 PMID:27650965 PMID:27930701 PMID:28166282 PMID:28341588 PMID:28492532 PMID:29288195 PMID:29582136 PMID:30615648
Pkp2 ISOPKP2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Long QT syndromePMID:16567567 PMID:17521752 PMID:18662195 PMID:19533476 PMID:19569224 PMID:19955750 PMID:20129281 PMID:20400443 PMID:20829228 PMID:20857253 PMID:21397041 PMID:21606390 PMID:21636032 PMID:21859740 PMID:23137101 PMID:23299917 PMID:23810883 PMID:23861362 PMID:24033266 PMID:24200904 PMID:24352520 PMID:24618965 PMID:24704780 PMID:24832006 PMID:25351510 PMID:25637381 PMID:25676813 PMID:25741868 PMID:26138720 PMID:26332594 PMID:26656175 PMID:26743238 PMID:27650965 PMID:27930701 PMID:28166282 PMID:28341588 PMID:28492532 PMID:29288195 PMID:29582136 PMID:30615648 PMID:36178741
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