Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
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 |
|---|---|---|---|
| 35 | ACADS | acyl-CoA dehydrogenase short chain | |
| 142 | PARP1 | poly(ADP-ribose) polymerase 1 | |
| 275 | AMT | aminomethyltransferase | |
| 410 | ARSA | arylsulfatase A | |
| 412 | STS | steroid sulfatase | |
| 414 | ARSD | arylsulfatase D | |
| 570 | BAAT | bile acid-CoA:amino acid N-acyltransferase | |
| 847 | CAT | catalase | |
| 1583 | CYP11A1 | cytochrome P450 family 11 subfamily A member 1 | |
| 1605 | DAG1 | dystroglycan 1 |
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 |
