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 11 - 16 of 16 in total
Gene ID Gene Symbol Description Source
8613 PLPP3 phospholipid phosphatase 3
9365 KL klotho
9469 CHST3 carbohydrate sulfotransferase 3
23545 ATP6V0A2 ATPase H+ transporting V0 subunit a2
26229 B3GAT3 beta-1,3-glucuronyltransferase 3
126792 B3GALT6 beta-1,3-galactosyltransferase 6
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