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Standards Ontologies Notations
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
Disease Ontology
DOID:0080333
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
3569 IL6 interleukin 6
4851 NOTCH1 notch receptor 1
5167 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
18128 Notch1 notch 1
18605 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
25496 Notch1 notch receptor 1
85496 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
31293 N Notch
Displaying 1 entry
Gene ID Gene Symbol Description Source
30718 notch1a notch receptor 1a
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
394367 notch1.S notch 1 receptor S homeolog Xenopus laevis (African clawed frog)
100037842 notch1 notch 1 receptor Xenopus tropicalis (tropical clawed frog)
Displaying all 3 entries
Gene ID Gene Symbol Description Source
176286 glp-1 glp-1/Notch intracellular domain
179663 enpp-1 Ectonucleotide pyrophosphatase/phosphodiesterase C27A7.1;NUC domain-containing protein
179665 C27A7.3 Ectonucleotide pyrophosphatase/phosphodiesterase C27A7.1;Ectonucleotide pyrophosphatase/phosphodiesterase C27A7.3
Displaying all 2 entries
Gene ID Gene Symbol Description Source
850391 NPP1 nucleotide diphosphatase/phosphodiesterase NPP1
856699 NPP2 nucleotide diphosphatase/phosphodiesterase NPP2
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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