Optic atrophy
| Disease Term | Disease ID | Gene Symbol | References | Source |
|---|---|---|---|---|
| OPTIC ATROPHY 9 | POLR3H | — | Disgenet | |
| OPTIC ATROPHY | POMGNT1 | — | Disgenet | |
| PROM1 | — | Disgenet | ||
| PROS1 | — | Disgenet | ||
| PRPH2 | — | Disgenet | ||
| RAB28 | — | Disgenet | ||
| RB1 | — | Disgenet | ||
| RBP3 | — | Disgenet | ||
| RDH11 | — | Disgenet | ||
| RDH12 | — | Disgenet | ||
| RDH5 | — | Disgenet | ||
| REEP6 | — | Disgenet | ||
| RGR | — | Disgenet | ||
| RGS9 | — | Disgenet | ||
| RHO | — | Disgenet | ||
| RLBP1 | — | Disgenet | ||
| ROM1 | — | Disgenet | ||
| RP1 | — | Disgenet | ||
| RP1L1 | — | Disgenet | ||
| RP9 | — | Disgenet | ||
| RPGR | — | Disgenet | ||
| RPGRIP1 | — | Disgenet | ||
| RPGRIP1L | — | Disgenet | ||
| RTN4IP1 | — | Disgenet | ||
| SAMD11 | — | Disgenet | ||
| SCAPER | — | Disgenet | ||
| SCLT1 | — | Disgenet | ||
| SEMA4A | — | Disgenet | ||
| SEMA6B | — | Disgenet | ||
| SERPINA12 | GWAS catalog | |||
| SERPINA4 | GWAS catalog | |||
| SLBP | CTD Disgenet | |||
| SLC24A1 | — | Disgenet | ||
| SLC25A46 | CTD Disgenet | |||
| SLC7A14 | — | Disgenet | ||
| SNAP25 | — | Disgenet | ||
| SPATA7 | — | Disgenet | ||
| SPG7 | — | Disgenet | ||
| SSBP1 | — | Disgenet | ||
| TBCD | CTD Disgenet | |||
| TMEM126A | Disgenet GenCC | |||
| OPTIC ATROPHY POLYNEUROPATHY DEAFNESS | PRPS1 | — | CTD | |
| AUTOSOMAL RECESSIVE ISOLATED OPTIC ATROPHY | RTN4IP1 | Disgenet Orphanet | ||
| OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES | RTN4IP1 | — | CTD HPO | |
| OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, INTELLECTUAL DISABILITY, AND SEIZURES | RTN4IP1 | ClinVar Disgenet | ||
| OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES | RTN4IP1 | — | Disgenet | |
| AUTOSOMAL RECESSIVE OPTIC ATROPHY | RTN4IP1 | GenCC | ||
| AUTOSOMAL DOMINANT OPTIC ATROPHY | SPG7 | Disgenet | ||
| OPTIC ATROPHY 13 WITH RETINAL AND FOVEAL ABNORMALITIES | SSBP1 | ClinGen ClinVar Disgenet GWAS catalog HPO | ||
| AUTOSOMAL RECESSIVE OPTIC ATROPHY TYPE 7 | TMEM126A | — | Disgenet |