enhanced s-cone syndrome Gene Set

Dataset OMIM Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
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://www.omim.org/entry/268100
Similar Terms
Downloads & Tools

Genes

1 genes associated with the enhanced s-cone syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

Symbol Name
NR2E3 nuclear receptor subfamily 2, group E, member 3