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obsolete Matthew-Wood syndrome
Summary
- Definition
- A syndrome that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect.
External Links
- Disease Ontology
- DOID:0050819
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5049 | PAFAH1B2 | platelet activating factor acetylhydrolase 1b catalytic subunit 2 | |
| 5223 | PGAM1 | phosphoglycerate mutase 1 | |
| 5226 | PGD | phosphogluconate dehydrogenase | |
| 5230 | PGK1 | phosphoglycerate kinase 1 | |
| 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 | |
| 5315 | PKM | pyruvate kinase M1/2 | |
| 5329 | PLAUR | plasminogen activator, urokinase receptor |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P16444 | Dipeptidase 1 | |
| P17931 | Galectin-3 | |
| P18669 | Phosphoglycerate mutase 1 | |
| P18827 | Syndecan-1 | |
| P19320 | Vascular cell adhesion protein 1 | |
| P19367 | Hexokinase-1 | |
| P19835 | Bile salt-activated lipase | |
| P20815 | Cytochrome P450 3A5 | |
| P21217 | 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase FUT3 | |
| P21589 | 5'-nucleotidase |
