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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 |
|---|---|---|---|
| 176 | ACAN | aggrecan | |
| 240 | ALOX5 | arachidonate 5-lipoxygenase | |
| 412 | STS | steroid sulfatase | |
| 414 | ARSD | arylsulfatase D | |
| 929 | CD14 | CD14 molecule | |
| 1585 | CYP11B2 | cytochrome P450 family 11 subfamily B member 2 | |
| 1591 | CYP24A1 | cytochrome P450 family 24 subfamily A member 1 | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 2027 | ENO3 | enolase 3 | |
| 2215 | FCGR3B | Fc gamma receptor IIIb |
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 |
