Details of Disease

General Information of Disease (ID: DISGGN33)

Disease Name Cardiac arrhythmia, ankyrin-B-related
Synonyms LQT4; cardiac arrhythmia, ankyrin-b-related; ankyrin-B syndrome
Definition Editor note: we follow OMIM in making LQT4 and ANK2-related cardiac arrhythmia to be equivalent
Disease Hierarchy
DISRNNCY: Familial long QT syndrome
DISGGN33: Cardiac arrhythmia, ankyrin-B-related
Disease Identifiers
MONDO ID
MONDO_0010958
UMLS CUI
C1970119
OMIM ID
600919
MedGen ID
370181
SNOMED CT ID
764457005

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
ANK2 OTWB4R1Y Strong 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.