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GENE - TERM ANNOTATION REPORT

RGD ID: 2247
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cacna2d1
Name: calcium voltage-gated channel auxiliary subunit alpha2delta 1
Acc ID: DOID:0050793
Term: short QT syndrome
Definition: A heart conduction disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Short_QT_syndrome "DO" "DO", http://ghr.nlm.nih.gov/condition/short-qt-syndrome "DO" "DO", http://omim.org/entry/609620?search=SHORT%20QT%20SYNDROME&highlight=syndromic%20short%20qt%20syndrome "DO" "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=51083 "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)
Cacna2d1 ISOCACNA2D1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Short QT syndromePMID:25741868 PMID:26467025 PMID:28492532
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