Details of Disease

General Information of Disease (ID: DISP9J6O)

Disease Name Long QT syndrome 12
Synonyms LQT12; long QT syndrome type 12; SNTA1 long QT syndrome; long QT syndrome 12; long QT syndrome caused by mutation in SNTA1
Definition Any long QT syndrome in which the cause of the disease is a mutation in the SNTA1 gene.
Disease Hierarchy
DISRNNCY: Familial long QT syndrome
DISP9J6O: Long QT syndrome 12
Disease Identifiers
MONDO ID
MONDO_0013062
MESH ID
C567842
UMLS CUI
C2751830
OMIM ID
612955
MedGen ID
442824

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
SNTA1 OTUICTGZ Limited 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.