Details of Disease

General Information of Disease (ID: DISWIOC6)

Disease Name Left ventricular noncompaction 7
Synonyms LVNC7; left ventricular noncompaction caused by mutation in MIB1; MIB1 left ventricular noncompaction; left ventricular noncompaction type 7; left ventricular noncompaction 7
Definition Any left ventricular noncompaction in which the cause of the disease is a mutation in the MIB1 gene.
Disease Hierarchy
DISJ4QEG: Left ventricular noncompaction
DISWIOC6: Left ventricular noncompaction 7
Disease Identifiers
MONDO ID
MONDO_0014042
UMLS CUI
C3554496
OMIM ID
615092
MedGen ID
767410

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
MIB1 OT5C404P Limited Unknown [1]
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References

1 Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy. Nat Med. 2013 Feb;19(2):193-201. doi: 10.1038/nm.3046. Epub 2013 Jan 13.