Details of Disease

General Information of Disease (ID: DIS6XRGG)

Disease Name Atrial septal defect 9
Synonyms atrial heart septal defect type 9; GATA6 atrial heart septal defect; ASD9; atrial septal defect 9; atrial heart septal defect caused by mutation in GATA6; atrial septal defect type 9
Definition Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA6 gene.
Disease Hierarchy
DISJT76B: Atrial septal defect
DISZB39O: GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes
DIS6XRGG: Atrial septal defect 9
Disease Identifiers
MONDO ID
MONDO_0013770
UMLS CUI
C3280943
OMIM ID
614475
MedGen ID
482573

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
GATA6 OTO2BC0F Definitive Autosomal dominant [1]
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References

1 A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. J Hum Genet. 2010 Oct;55(10):662-7. doi: 10.1038/jhg.2010.84. Epub 2010 Jul 15.