| Gene | Associated with OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY in | Link to HGNC | Cytogenetic band | Number of associated diseases | Associated diseases |
|---|---|---|---|---|---|
| OPA1 | ClinVar, OMIM, HUMSAVAR | HGNC link | 3q29 | 6 | PS256300, 210000, PS165500, PS603041, 125250, 606657 |