|Dataset||ClinVar Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|Description||An autosomal dominant 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. (Human Disease Ontology, DOID_0050793)|
|Downloads & Tools|
1 genes associated with the short QT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
|KCNH2||potassium channel, voltage gated eag related subfamily H, member 2|