Details of Disease | DrugMAP

General Information of Disease (ID: DISVZURG)

Disease Name	Aortic valve disease 3
Synonyms	AOVD3; AORTIC VALVE DISEASE 3
Disease Hierarchy	DISL0BRK: Familial bicuspid aortic valve DISVZURG: Aortic valve disease 3
Disease Identifiers	MONDO ID MONDO_0032783 UMLS CUI C5193127 OMIM ID 618496 MedGen ID 1681142

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ROBO4	TT3S9TY	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ROBO4	OT2Q29L9	Strong	Autosomal dominant	[1]
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References

1	ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm. Nat Genet. 2019 Jan;51(1):42-50. doi: 10.1038/s41588-018-0265-y. Epub 2018 Nov 19.