aortic valve disease 1

Summary
Definition
A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the NOTCH1 gene on chromosome 9q34.
Super Class
autosomal dominant disease bicuspid aortic valve disease
External Links
Disease Ontology
DOID:0080333
Mondo Disease Ontology
OMIM
Related Genes
Displaying entries 1 - 10 of 16 in total
Gene ID Gene Symbol Description Source
176 ACAN aggrecan
412 STS steroid sulfatase
414 ARSD arylsulfatase D
960 CD44 CD44 molecule (IN blood group)
1636 ACE angiotensin I converting enzyme
2597 GAPDH glyceraldehyde-3-phosphate dehydrogenase
3383 ICAM1 intercellular adhesion molecule 1
4907 NT5E 5'-nucleotidase ecto
5167 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
7941 PLA2G7 phospholipase A2 group VII
Displaying 1 entry
Gene ID Gene Symbol Description Source
18605 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
85496 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
31293 N Notch

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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