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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 |
|---|---|---|---|
| 28 | ABO | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | |
| 43 | ACHE | acetylcholinesterase (Yt blood group) | |
| 125 | ADH1B | alcohol dehydrogenase 1B (class I), beta polypeptide | |
| 126 | ADH1C | alcohol dehydrogenase 1C (class I), gamma polypeptide | |
| 176 | ACAN | aggrecan | |
| 217 | ALDH2 | aldehyde dehydrogenase 2 family member | |
| 220 | ALDH1A3 | aldehyde dehydrogenase 1 family member A3 | |
| 240 | ALOX5 | arachidonate 5-lipoxygenase | |
| 250 | ALPP | alkaline phosphatase, placental | |
| 308 | ANXA5 | annexin A5 |
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 |
