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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 |
|---|---|---|---|
| 29954 | POMT2 | protein O-mannosyltransferase 2 | |
| 55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | |
| 56623 | INPP5E | inositol polyphosphate-5-phosphatase E | |
| 79147 | FKRP | fukutin related protein | |
| 79644 | SRD5A3 | steroid 5 alpha-reductase 3 | |
| 84197 | POMK | protein O-mannose kinase | |
| 84892 | POMGNT2 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | |
| 85365 | ALG2 | ALG2 alpha-1,3/1,6-mannosyltransferase | |
| 145173 | B3GLCT | beta 3-glucosyltransferase | |
| 148789 | B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 |
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 |
