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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 |
|---|---|---|---|
| 8613 | PLPP3 | phospholipid phosphatase 3 | |
| 9365 | KL | klotho | |
| 9469 | CHST3 | carbohydrate sulfotransferase 3 | |
| 23545 | ATP6V0A2 | ATPase H+ transporting V0 subunit a2 | |
| 26229 | B3GAT3 | beta-1,3-glucuronyltransferase 3 | |
| 126792 | B3GALT6 | beta-1,3-galactosyltransferase 6 |
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 |
