Details of Disease

General Information of Disease (ID: DISCFPU5)

Disease Name Atrial septal defect 3
Synonyms atrial septal defect 3; MYH6 atrial heart septal defect; atrial heart septal defect type 3; ASD3; atrial heart septal defect caused by mutation in MYH6; atrial septal defect type 3
Definition Any atrial heart septal defect in which the cause of the disease is a mutation in the MYH6 gene.
Disease Hierarchy
DISJT76B: Atrial septal defect
DISCFPU5: Atrial septal defect 3
Disease Identifiers
MONDO ID
MONDO_0013567
MESH ID
C563540
UMLS CUI
C3279790
OMIM ID
614089
MedGen ID
481420

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
MYH6 OT3YNCH1 Limited Autosomal dominant [1]
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References

1 Mutation in myosin heavy chain 6 causes atrial septal defect. Nat Genet. 2005 Apr;37(4):423-8. doi: 10.1038/ng1526. Epub 2005 Feb 27.