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Stargardt disease
Summary
- Synonym
-
- STARGARDT DISEASE 1
- Definition
- An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness.
- Super Class
- age related macular degeneration
External Links
- Disease Ontology
- DOID:0050817
- Mondo Disease Ontology
- MeSH
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5538 | PPT1 | palmitoyl-protein thioesterase 1 | |
| 6120 | RPE | ribulose-5-phosphate-3-epimerase | |
| 6785 | ELOVL4 | ELOVL fatty acid elongase 4 | |
| 10327 | AKR1A1 | aldo-keto reductase family 1 member A1 | |
| 10908 | PNPLA6 | patatin like phospholipase domain containing 6 | |
| 60506 | NYX | nyctalopin |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P14550 | Aldo-keto reductase family 1 member A1 | |
| P50897 | Palmitoyl-protein thioesterase 1 | |
| Q8IY17 | Patatin-like phospholipase domain-containing protein 6 | |
| Q96AT9 | Ribulose-phosphate 3-epimerase | |
| Q9GZR5 | Very long chain fatty acid elongase 4 | |
| Q9GZU5 | Nyctalopin |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0008059 | Aplasia/Hypoplasia of the macula |
| HP:0000610 | Abnormal choroid morphology |
| HP:0007704 | Paroxysmal involuntary eye movements |
| HP:0000505 | Visual impairment |
| HP:0011507 | Macular flecks |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0007754 | Macular dystrophy |
| HP:0007401 | Macular atrophy |
