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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
coloboma
Summary
- Synonym
-
- coloboma of eye
- coloboma of macula
- congenital ocular coloboma
- Definition
- An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.
- Super Class
- eye disease
External Links
- Disease Ontology
- DOID:12270
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | |
| 9487 | PIGL | phosphatidylinositol glycan anchor biosynthesis class L | |
| 10195 | ALG3 | ALG3 alpha-1,3- mannosyltransferase | |
| 10329 | RXYLT1 | ribitol xylosyltransferase 1 | |
| 10585 | POMT1 | protein O-mannosyltransferase 1 | |
| 10908 | PNPLA6 | patatin like phospholipase domain containing 6 | |
| 11041 | B4GAT1 | beta-1,4-glucuronyltransferase 1 | |
| 11285 | B4GALT7 | beta-1,4-galactosyltransferase 7 | |
| 29925 | GMPPB | GDP-mannose pyrophosphorylase B | |
| 29926 | GMPPA | GDP-mannose pyrophosphorylase A |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UKY4 | Protein O-mannosyl-transferase 2 | |
| Q9Y2B1 | Ribitol-5-phosphate xylosyltransferase 1 | |
| Q9Y5P6 | Mannose-1-phosphate guanyltransferase beta | |
| Q9Y6A1 | Protein O-mannosyl-transferase 1 |
