| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 | POLG | disease | C1834846 | CausalMutation | 0.7 | disgenet |
| Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 | POLG | disease | C1834846 | GermlineCausalMutation | 0.7 | disgenet |
| Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 | POLG | disease | C1834846 | Biomarker | 0.7 | disgenet |
| Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 | POLG | disease | C1834846 | GeneticVariation | 0.7 | disgenet |
| Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 | TWNK | disease | C1834846 | GermlineCausalMutation | 0.3 | disgenet |
| Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 | POLG2 | disease | C1834846 | GermlineCausalMutation | 0.3 | disgenet |
| Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 | SLC25A4 | disease | C1834846 | GermlineCausalMutation | 0.3 | disgenet |
| Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 | RRM2B | disease | C1834846 | GermlineCausalMutation | 0.3 | disgenet |
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