Details of Disease

General Information of Disease (ID: DISQ692T)

Disease Name Ventricular septal defect 2
Synonyms VSD2; CITED2 ventricular septal defect (disease); ventricular septal defect 2; ventricular septal defect type 2; ventricular septal defect (disease) caused by mutation in CITED2
Definition Any ventricular septal defect in which the cause of the disease is a mutation in the CITED2 gene.
Disease Hierarchy
DISICO41: Ventricular septal defect
DISQ692T: Ventricular septal defect 2
Disease Identifiers
MONDO ID
MONDO_0013748
UMLS CUI
C3280783
OMIM ID
614431
MedGen ID
482413

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
CITED2 OT812TV7 Limited Unknown [1]
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References

1 Cardiac malformations, adrenal agenesis, neural crest defects and exencephaly in mice lacking Cited2, a new Tfap2 co-activator. Nat Genet. 2001 Dec;29(4):469-74. doi: 10.1038/ng768.