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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
autosomal dominant Robinow syndrome 1
Summary
- Synonym
-
- DRS1
- Definition
- A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p.
- Super Class
- Robinow syndrome autosomal dominant disease
External Links
- Disease Ontology
- DOID:0060766
- Mondo Disease Ontology
- ORDO
- OMIM
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 11285 | B4GALT7 | beta-1,4-galactosyltransferase 7 | |
| 56994 | CHPT1 | choline phosphotransferase 1 | |
| 64132 | XYLT2 | xylosyltransferase 2 | |
| 79623 | GALNT14 | polypeptide N-acetylgalactosaminyltransferase 14 | |
| 79947 | DHDDS | dehydrodolichyl diphosphate synthase subunit |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96FL9 | Polypeptide N-acetylgalactosaminyltransferase 14 | |
| Q9H1B5 | Xylosyltransferase 2 | |
| Q9UBV7 | Beta-1,4-galactosyltransferase 7 | |
| Q9UEF7 | Klotho | |
| Q9UQE7 | Structural maintenance of chromosomes protein 3 |
