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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
bicuspid aortic valve disease
Summary
- Synonym
-
- Familial bicuspid aortic valve
- Definition
- An aortic valve disease that is characterized by the presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives.
- Super Class
- aortic valve disease
External Links
- Disease Ontology
- DOID:0080332
- MeSH
- ORDO
- 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
| UniProt ID | Protein Name | Source |
|---|---|---|
| P51689 | Arylsulfatase D | |
| Q13093 | Platelet-activating factor acetylhydrolase | |
| Q7LGC8 | Carbohydrate sulfotransferase 3 | |
| Q96L58 | Beta-1,3-galactosyltransferase 6 | |
| Q9UEF7 | Klotho | |
| Q9Y487 | V-type proton ATPase 116 kDa subunit a 2 |
