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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 |
|---|---|---|---|
| 1056 | CEL | carboxyl ester lipase | |
| 1087 | CEACAM7 | CEA cell adhesion molecule 7 | |
| 1119 | CHKA | choline kinase alpha | |
| 1462 | VCAN | versican | |
| 1577 | CYP3A5 | cytochrome P450 family 3 subfamily A member 5 | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 1800 | DPEP1 | dipeptidase 1 | |
| 2023 | ENO1 | enolase 1 | |
| 2194 | FASN | fatty acid synthase | |
| 2203 | FBP1 | fructose-bisphosphatase 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04156 | Major prion protein | |
| P04406 | Glyceraldehyde-3-phosphate dehydrogenase | |
| P06731 | Carcinoembryonic antigen-related cell adhesion molecule 5 | |
| P06733 | Alpha-enolase | |
| P06744 | Glucose-6-phosphate isomerase | |
| P07195 | L-lactate dehydrogenase B chain | |
| P07203 | Glutathione peroxidase 1 | |
| P07741 | Adenine phosphoribosyltransferase | |
| P09382 | Galectin-1 | |
| P09467 | Fructose-1,6-bisphosphatase 1 |
