| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Minicore Myopathy with External Ophthalmoplegia | RYR1 | disease | C1850674 | GeneticVariation | 0.8 | orphanet , disgenet |
| Minicore Myopathy with External Ophthalmoplegia | RYR1 | disease | C1850674 | Biomarker | 0.8 | orphanet , disgenet |
| Minicore Myopathy with External Ophthalmoplegia | RYR1 | disease | C1850674 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
| Minicore Myopathy with External Ophthalmoplegia | RYR1 | disease | C1850674 | CausalMutation | 0.8 | orphanet , disgenet |
| Minicore Myopathy with External Ophthalmoplegia | MYH7 | disease | C1850674 | Biomarker | 0.11 | orphanet , disgenet |
| Minicore Myopathy with External Ophthalmoplegia | MYH7 | disease | C1850674 | GeneticVariation | 0.11 | orphanet , disgenet |
| Minicore Myopathy with External Ophthalmoplegia | TRIP4 | disease | C1850674 | Biomarker | 0.1 | disgenet |
| Minicore Myopathy with External Ophthalmoplegia | CFL2 | disease | C1850674 | Biomarker | 0.1 | disgenet |
| Minicore Myopathy with External Ophthalmoplegia | SELENON | disease | C1850674 | Biomarker | 0.08 | orphanet , disgenet |
| Minicore Myopathy with External Ophthalmoplegia | SELENON | disease | C1850674 | GeneticVariation | 0.08 | orphanet , disgenet |
| Minicore Myopathy with External Ophthalmoplegia | MEGF10 | disease | C1850674 | Biomarker | 0.02 | disgenet |
| Minicore Myopathy with External Ophthalmoplegia | MEGF10 | disease | C1850674 | GeneticVariation | 0.02 | disgenet |
| Minicore Myopathy with External Ophthalmoplegia | AICDA | disease | C1850674 | Biomarker | 0.01 | disgenet |
| Minicore Myopathy with External Ophthalmoplegia | FXR1 | disease | C1850674 | GeneticVariation | 0.01 | disgenet |
| Minicore Myopathy with External Ophthalmoplegia | TRDN | disease | C1850674 | Biomarker | 0.01 | disgenet |
| Minicore Myopathy with External Ophthalmoplegia | EGF | disease | C1850674 | GeneticVariation | 0.01 | disgenet |
| Minicore Myopathy with External Ophthalmoplegia | TTN | disease | C1850674 | GeneticVariation | 0.01 | orphanet , disgenet |
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