| Dataset | CTD Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | disease |
| Description | Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis). (Orphanet Rare Disease Ontology, Orphanet_53540) |
| External Link | http://ctdbase.org/detail.go?type=disease&acc=MESH:C564835 |
| Similar Terms | |
| Downloads & Tools |
1 genes/proteins associated with the disease Enhanced S-Cone Syndrome from the curated CTD Gene-Disease Associations dataset.
| Symbol | Name | Standardized Value |
|---|---|---|
| NR2E3 | nuclear receptor subfamily 2, group E, member 3 | 2.88009 |
