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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Marfan syndrome
Summary
- Synonym
-
- Marfan's syndrome
- Definition
- A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.
- Super Class
- aortic disease connective tissue disease eye disease
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1718 | DHCR24 | 24-dehydrocholesterol reductase | |
| 2132 | EXT2 | exostosin glycosyltransferase 2 | |
| 2203 | FBP1 | fructose-bisphosphatase 1 | |
| 2215 | FCGR3B | Fc gamma receptor IIIb | |
| 2220 | FCN2 | ficolin 2 | |
| 2262 | GPC5 | glypican 5 | |
| 2524 | FUT2 | fucosyltransferase 2 (H blood group) | |
| 2619 | GAS1 | growth arrest specific 1 | |
| 2645 | GCK | glucokinase | |
| 2719 | GPC3 | glypican 3 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q07837 | Amino acid transporter heavy chain SLC3A1 | |
| Q10981 | Galactoside alpha-(1,2)-fucosyltransferase 2 | |
| Q13563 | Polycystin-2 | |
| Q14002 | Carcinoembryonic antigen-related cell adhesion molecule 7 | |
| Q14118 | Dystroglycan 1 | |
| Q15125 | 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase | |
| Q15392 | Delta(24)-sterol reductase | |
| Q15485 | Ficolin-2 | |
| Q16678 | Cytochrome P450 1B1 | |
| Q5KSL6 | Diacylglycerol kinase kappa |
