eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | optic atrophy 1 |
| Comorbidity | C0027765|neurological disease |
| Sentences | 2 |
| PubMedID- 20157015 | Multi-system neurological disease is common in patients with opa1 mutations. |
| PubMedID- 21112411 | Of note, there was a two- to three-fold increased risk of developing multi-system neurological disease with missense opa1 mutations located within the gtpase domain, suggesting deleterious gain-of-function mechanisms. |
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