Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
| 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 |
Related Glycoprotein
