Enhanced s-cone syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Enhanced S-Cone Syndrome | C1849394 | NR2E3 | Causal Pathogenic evidence from ClinVar | 10655056, 11071390, 11773633, 12963616, 15459973, 15689355, 16225923, 17438525, 18294254, 19006237, 19273793, 19898638, 21364904, 24069298, 25097241, 27032803 | ClinVar |
| NRL | Causal Pathogenic evidence from ClinVar | - | ClinVar |