Details of Disease | DrugMAP

General Information of Disease (ID: DISD1WD5)

Disease Name	Long QT syndrome 14
Synonyms	long QT syndrome type 14; CALM1 long QT syndrome; long QT syndrome caused by mutation in CALM1; long QT syndrome 14; LQT14
Definition	Any long QT syndrome in which the cause of the disease is a mutation in the CALM1 gene.
Disease Hierarchy	DISRNNCY: Familial long QT syndrome DISD1WD5: Long QT syndrome 14
Disease Identifiers	MONDO ID MONDO_0014548 UMLS CUI C4015671 OMIM ID 616247 MedGen ID 864108

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CALM1	OTNYA92F	Definitive	Autosomal dominant	[1]
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References

1	Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry. Eur Heart J. 2019 Sep 14;40(35):2964-2975. doi: 10.1093/eurheartj/ehz311.