Coloboma
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| COLOBOMA | ACTB | Unknown | CTD | ||
| ACTG1 | Unknown | CTD | |||
| ALDH7A1 | Unknown | CTD | |||
| LAMB1 | Unknown | CTD | |||
| MYH10 | Unknown | — | GenCC | ||
| PAX6 | Unknown | — | CTD | ||
| RAX | Unknown | GWAS catalog | |||
| SALL2 | Unknown | — | CTD | ||
| SLBP | Unknown | CTD | |||
| COLOBOMA OF CHOROID AND RETINA | ABCB6 | Unknown | — | Disgenet | |
| ACTG1 | Unknown | — | Disgenet | ||
| FZD5 | Unknown | — | Disgenet | ||
| PAX6 | Unknown | — | Disgenet | ||
| SALL2 | Unknown | — | Disgenet | ||
| COLOBOMA OF LENS | ABCB6 | Unknown | — | Disgenet | |
| FZD5 | Unknown | — | Disgenet | ||
| PAX6 | Unknown | — | Disgenet | ||
| SALL2 | Unknown | — | Disgenet | ||
| COLOBOMA OF OPTIC DISC | ABCB6 | Unknown | — | Disgenet | |
| DHX37 | Unknown | — | Disgenet | ||
| ELP4 | Unknown | — | Disgenet | ||
| FZD5 | Unknown | — | Disgenet | ||
| PAX6 | Unknown | — | Disgenet | ||
| SALL2 | Unknown | — | Disgenet | ||
| COLOBOMA OF OPTIC NERVE | PAX6 | Causal | — | CTD ClinVar HPO | |
| COLOBOMA OF SUPERIOR EYELID | GLI2 | Unknown | — | Disgenet | |
| COLOBOMA OF THE RETINA | CHD7 | Unknown | — | Disgenet |