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Standards Ontologies Notations
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
Disease Ontology
DOID:0080334
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
4000 LMNA lamin A/C
4091 SMAD6 SMAD family member 6
4313 MMP2 matrix metallopeptidase 2
79068 FTO FTO alpha-ketoglutarate dependent dioxygenase
Displaying all 3 entries
Gene ID Gene Symbol Description Source
16905 Lmna lamin A
17390 Mmp2 matrix metallopeptidase 2
26383 Fto FTO alpha-ketoglutarate dependent dioxygenase
Displaying 1 entry
Gene ID Gene Symbol Description Source
81686 Mmp2 matrix metallopeptidase 2
Displaying all 2 entries
Gene ID Gene Symbol Description Source
179991 zmp-4 Hemopexin;Peptidase metallopeptidase domain-containing protein
180351 W01F3.2 Uncharacterized protein
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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: December 9, 2024