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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Leber congenital amaurosis
Summary
- Synonym
-
- LCA
- Leber's amaurosis
- Leber's congenital amaurosis
- Leber's disease
- Definition
- A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.
- Super Class
- physical disorder retinal disease
External Links
- Disease Ontology
- DOID:14791
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 131 | ADH7 | alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide | |
| 2026 | ENO2 | enolase 2 | |
| 5130 | PCYT1A | phosphate cytidylyltransferase 1A, choline | |
| 6785 | ELOVL4 | ELOVL fatty acid elongase 4 | |
| 8630 | HSD17B6 | hydroxysteroid 17-beta dehydrogenase 6 | |
| 10908 | PNPLA6 | patatin like phospholipase domain containing 6 | |
| 79888 | LPCAT1 | lysophosphatidylcholine acyltransferase 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O14756 | 17-beta-hydroxysteroid dehydrogenase type 6 | |
| P09104 | Gamma-enolase | |
| P49585 | Choline-phosphate cytidylyltransferase A | |
| Q8IY17 | Patatin-like phospholipase domain-containing protein 6 | |
| Q8NF37 | Lysophosphatidylcholine acyltransferase 1 | |
| Q9GZR5 | Very long chain fatty acid elongase 4 |
