aortic valve disease 2

Summary
Definition
A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22.
Super Class
autosomal dominant disease bicuspid aortic valve disease
External Links
Disease Ontology
DOID:0080334
Mondo Disease Ontology
OMIM
Related Genes
Displaying entries 1 - 10 of 39 in total
Gene ID Gene Symbol Description Source
176 ACAN aggrecan
240 ALOX5 arachidonate 5-lipoxygenase
412 STS steroid sulfatase
414 ARSD arylsulfatase D
929 CD14 CD14 molecule
1585 CYP11B2 cytochrome P450 family 11 subfamily B member 2
1591 CYP24A1 cytochrome P450 family 24 subfamily A member 1
1636 ACE angiotensin I converting enzyme
2027 ENO3 enolase 3
2215 FCGR3B Fc gamma receptor IIIb
Related Glycoprotein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024