Details of Disease | DrugMAP

General Information of Disease (ID: DISZ5RC4)

Disease Name	Long QT syndrome 9
Synonyms	long QT syndrome 2/9, digenic; long QT syndrome 9, acquired, susceptibility to; LQT9; CAV3 long QT syndrome; long QT syndrome caused by mutation in CAV3; long QT syndrome 9; long QT syndrome type 9
Definition	Any long QT syndrome in which the cause of the disease is a mutation in the CAV3 gene.
Disease Hierarchy	DISRNNCY: Familial long QT syndrome DISZ5RC4: Long QT syndrome 9
Disease Identifiers	MONDO ID MONDO_0012736 MESH ID C567515 UMLS CUI C2678485 OMIM ID 611818 MedGen ID 395635

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
CAV3	OTWSFDB4	Moderate	Autosomal dominant	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.