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long QT syndrome 14
Disease Summary
Associated Targets (1)
Tclin
1
Mondo Description Any long QT syndrome in which the cause of the disease is a mutation in the CALM1 gene.
Uniprot Description A form of long QT syndrome, a heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy.
Disease Ontology Description A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM1 gene on chromosome 14q32.11.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0110655
OMIM:616247
UMLS:C4015671
MONDO:0014548
High level summary of knowledge for a disease, including descriptions and datasource references.