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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 |
|---|---|---|---|
| 220 | ALDH1A3 | aldehyde dehydrogenase 1 family member A3 | |
| 501 | ALDH7A1 | aldehyde dehydrogenase 7 family member A1 | |
| 523 | ATP6V1A | ATPase H+ transporting V1 subunit A | |
| 1545 | CYP1B1 | cytochrome P450 family 1 subfamily B member 1 | |
| 1605 | DAG1 | dystroglycan 1 | |
| 1717 | DHCR7 | 7-dehydrocholesterol reductase | |
| 2218 | FKTN | fukutin | |
| 2619 | GAS1 | growth arrest specific 1 | |
| 5048 | PAFAH1B1 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | |
| 5631 | PRPS1 | phosphoribosyl pyrophosphate synthetase 1 |
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 |
