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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
autosomal dominant Robinow syndrome 3
Summary
- Synonym
-
- DRS3
- Definition
- A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in the DVL3 gene on chromosome 3q27.
- Super Class
- Robinow syndrome autosomal dominant disease
External Links
- Disease Ontology
- DOID:0060767
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1634 | DCN | decorin | |
| 2348 | FOLR1 | folate receptor alpha | |
| 2597 | GAPDH | glyceraldehyde-3-phosphate dehydrogenase | |
| 2653 | GCSH | glycine cleavage system protein H | |
| 2720 | GLB1 | galactosidase beta 1 | |
| 2731 | GLDC | glycine decarboxylase | |
| 2821 | GPI | glucose-6-phosphate isomerase | |
| 3339 | HSPG2 | heparan sulfate proteoglycan 2 | |
| 4968 | OGG1 | 8-oxoguanine DNA glycosylase | |
| 5224 | PGAM2 | phosphoglycerate mutase 2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00329 | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform | |
| O95271 | Poly [ADP-ribose] polymerase tankyrase-1 | |
| O95470 | Sphingosine-1-phosphate lyase 1 | |
| P04040 | Catalase | |
| P04156 | Major prion protein | |
| P04406 | Glyceraldehyde-3-phosphate dehydrogenase | |
| P06744 | Glucose-6-phosphate isomerase | |
| P07585 | Decorin | |
| P08842 | Steryl-sulfatase | |
| P09874 | Poly [ADP-ribose] polymerase 1 |
