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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 |
|---|---|---|---|
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5476 | CTSA | cathepsin A | |
| 5660 | PSAP | prosaposin | |
| 6382 | SDC1 | syndecan 1 | |
| 6385 | SDC4 | syndecan 4 | |
| 8473 | OGT | O-linked N-acetylglucosamine (GlcNAc) transferase | |
| 9469 | CHST3 | carbohydrate sulfotransferase 3 | |
| 9791 | PTDSS1 | phosphatidylserine synthase 1 |
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 |
