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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
External Links
- Disease Ontology
- DOID:0080334
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2271 | FH | fumarate hydratase | |
| 2597 | GAPDH | glyceraldehyde-3-phosphate dehydrogenase | |
| 2720 | GLB1 | galactosidase beta 1 | |
| 3425 | IDUA | alpha-L-iduronidase | |
| 3958 | LGALS3 | galectin 3 | |
| 3960 | LGALS4 | galectin 4 | |
| 4350 | MPG | N-methylpurine DNA glycosylase | |
| 4907 | NT5E | 5'-nucleotidase ecto | |
| 5167 | ENPP1 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P08842 | Steryl-sulfatase | |
| P10619 | Lysosomal protective protein | |
| P12821 | Angiotensin-converting enzyme | |
| P13929 | Beta-enolase | |
| P16112 | Aggrecan core protein | |
| P16278 | Beta-galactosidase | |
| P17931 | Galectin-3 | |
| P18827 | Syndecan-1 | |
| P21589 | 5'-nucleotidase | |
| P22413 | Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 |
