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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Cornelia de Lange syndrome
Summary
- Synonym
-
- Brachmann de Lange syndrome
- De Lange syndrome
- Definition
- A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features.
- Super Class
- monogenic disease syndrome
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5224 | PGAM2 | phosphoglycerate mutase 2 | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5621 | PRNP | prion protein (Kanno blood group) | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 8658 | TNKS | tankyrase | |
| 8879 | SGPL1 | sphingosine-1-phosphate lyase 1 | |
| 9126 | SMC3 | structural maintenance of chromosomes 3 |
Related Glycoprotein
