Details of Disease

General Information of Disease (ID: DIS12IDK)

Disease Name Atrial septal defect 2
Synonyms GATA4 atrial heart septal defect; ASD2; atrial septal defect type 2; atrial heart septal defect caused by mutation in GATA4; atrial heart septal defect type 2; atrial septal defect 2
Definition Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA4 gene.
Disease Hierarchy
DISJT76B: Atrial septal defect
DISKENQD: Structural congenital heart disease, multiple types - GATA4
DIS12IDK: Atrial septal defect 2
Disease Identifiers
MONDO ID
MONDO_0011938
MESH ID
C538263
UMLS CUI
C1842778
OMIM ID
607941
MedGen ID
334249

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GATA4 TT1VDN2 Definitive Autosomal dominant [1]
GATA4 TT1VDN2 Definitive Genetic Variation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GATA4 OTQHWAZG Definitive Autosomal dominant [1]
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References

1 Spectrum of heart disease associated with murine and human GATA4 mutation. J Mol Cell Cardiol. 2007 Dec;43(6):677-85. doi: 10.1016/j.yjmcc.2007.06.004. Epub 2007 Jun 21.
2 Disease Model of GATA4 Mutation Reveals Transcription Factor Cooperativity in Human Cardiogenesis.Cell. 2016 Dec 15;167(7):1734-1749.e22. doi: 10.1016/j.cell.2016.11.033.