Hereditary motor and sensory neuropathy with optic atrophy
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Hereditary motor and sensory neuropathy with optic atrophy (disorder) | C0393807 | MFN2 | Causal Pathogenic evidence from ClinVar | 16437557, 20350294, 21715711, 24604904, 26085578, 27604308 | ClinVar |
| SLC25A46 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 26168012 | - |