Details of Disease | DrugMAP

General Information of Disease (ID: DISJ5HRM)

Disease Name	Short QT syndrome 7
Disease Hierarchy	DISOI9X1: Short QT syndrome DISJ5HRM: Short QT syndrome 7
Disease Identifiers	MONDO ID MONDO_0859368 UMLS CUI C5774304 OMIM ID 620231 MedGen ID 1824077

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC4A3	DT4X2AH	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC4A3	OTXIRX39	Strong	Autosomal dominant	[1]
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References

1	Loss-of-activity-mutation in the cardiac chloride-bicarbonate exchanger AE3 causes short QT syndrome. Nat Commun. 2017 Nov 22;8(1):1696. doi: 10.1038/s41467-017-01630-0.