| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Myopathy with Lactic Acidosis, Hereditary | ISCU | disease | C1850718 | GeneticVariation | 0.64 | orphanet , disgenet |
| Myopathy with Lactic Acidosis, Hereditary | ISCU | disease | C1850718 | Biomarker | 0.64 | orphanet , disgenet |
| Myopathy with Lactic Acidosis, Hereditary | ISCU | disease | C1850718 | CausalMutation | 0.64 | orphanet , disgenet |
| Myopathy with Lactic Acidosis, Hereditary | SRSF3 | disease | C1850718 | Biomarker | 0.01 | disgenet |
| Myopathy with Lactic Acidosis, Hereditary | PTBP1 | disease | C1850718 | Biomarker | 0.01 | disgenet |
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