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GENE - TERM ANNOTATION REPORT

RGD ID: 1305196
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Jph2
Name: junctophilin 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)
Jph2 ISOJPH2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Long QT syndromePMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532
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