| Dataset | MPO Gene-Phenotype Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | A coloboma of the iris. (Human Phenotype Ontology, HP_0000612) |
| External Link | http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010714 |
| Similar Terms | |
| Downloads & Tools |
7 gene mutations causing the iris coloboma phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
| Symbol | Name |
|---|---|
| CITED2 | Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 |
| GLCE | glucuronic acid epimerase |
| HS2ST1 | heparan sulfate 2-O-sulfotransferase 1 |
| JAG1 | jagged 1 |
| MYO10 | myosin X |
| NDST1 | N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 |
| SMOC1 | SPARC related modular calcium binding 1 |
