Details of Disease | DrugMAP

General Information of Disease (ID: DISU2NC3)

Disease Name	Congenital heart defects, multiple types, 2
Synonyms	CHTD2; TAB2 congenital heart malformation; congenital heart malformation caused by mutation in TAB2; congenital heart defects, nonsyndromic, 2; congenital heart defects, multiple types, 2
Definition	Any congenital heart malformation in which the cause of the disease is a mutation in the TAB2 gene.
Disease Hierarchy	DISMT2VZ: Cardiogenetic disease DIS7LR56: Congenital heart malformation DISWZRYW: Congenital heart defects, multiple types DISU2NC3: Congenital heart defects, multiple types, 2
Disease Identifiers	MONDO ID MONDO_0014000 UMLS CUI C3554279 OMIM ID 614980 MedGen ID 767193

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MAML3	OTZFV53Z	Strong	Genetic Variation	[1]
TAB2	OTPZK76F	Strong	Autosomal dominant	[2]
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References

1	A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations.Nat Genet. 2013 Jul;45(7):818-21. doi: 10.1038/ng.2636. Epub 2013 May 26.
2	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.