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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 |
|---|---|---|---|
| 10159 | ATP6AP2 | ATPase H+ transporting accessory protein 2 | |
| 10682 | EBP | EBP cholestenol delta-isomerase | |
| 10724 | OGA | O-GlcNAcase | |
| 11285 | B4GALT7 | beta-1,4-galactosyltransferase 7 | |
| 23545 | ATP6V0A2 | ATPase H+ transporting V0 subunit a2 | |
| 26229 | B3GAT3 | beta-1,3-glucuronyltransferase 3 | |
| 81031 | SLC2A10 | solute carrier family 2 member 10 | |
| 84572 | GNPTG | N-acetylglucosamine-1-phosphate transferase subunit gamma | |
| 126792 | B3GALT6 | beta-1,3-galactosyltransferase 6 |
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 |
