Details of Disease | DrugMAP

General Information of Disease (ID: DIS9I1G2)

Disease Name	Cardiac valvular defect, developmental
Synonyms	CARDIAC valvular defect, developmental; CVDD; cardiac valvular defect, developmental
Disease Hierarchy	DISQCXZX: Disorder of development or morphogenesis DIS9ITX8: Cardiac valvular defect DIS9I1G2: Cardiac valvular defect, developmental
Disease Identifiers	MONDO ID MONDO_0008913 MESH ID C565882 UMLS CUI C5774175 OMIM ID 212093 MedGen ID 1823949

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PLD1	DEB2ZMT	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PLD1	OTMVUKW6	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Congenital valvular defects associated with deleterious mutations in the PLD1 gene. J Med Genet. 2017 Apr;54(4):278-286. doi: 10.1136/jmedgenet-2016-104259. Epub 2016 Oct 31.