Optic nerve hypoplasia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Optic Nerve Hypoplasia, Bilateral | C1833797 | PAX6 | Causal Pathogenic evidence from ClinVar | 2855731, 7550230, 12721955, 17148041 | ClinVar |
| ELP4 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |