Details of Disease | DrugMAP

General Information of Disease (ID: DIS6T8T5)

Disease Name	Atrial septal defect 8
Synonyms	CITED2 atrial heart septal defect; atrial septal defect 8; ASD8; atrial heart septal defect caused by mutation in CITED2; atrial heart septal defect type 8; atrial septal defect type 8
Definition	Any atrial heart septal defect in which the cause of the disease is a mutation in the CITED2 gene.
Disease Hierarchy	DISJT76B: Atrial septal defect DIS6T8T5: Atrial septal defect 8
Disease Identifiers	MONDO ID MONDO_0013750 UMLS CUI C3280790 OMIM ID 614433 MedGen ID 482420

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	Moderate	Autosomal dominant	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.