| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive | POLG | disease | C1850303 | Biomarker | 0.52 | orphanet , disgenet |
| Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive | POLG | disease | C1850303 | GermlineCausalMutation | 0.52 | orphanet , disgenet |
| Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive | POLG | disease | C1850303 | GeneticVariation | 0.52 | orphanet , disgenet |
| Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive | TK2 | disease | C1850303 | GeneticVariation | 0.31 | orphanet , disgenet |
| Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive | TK2 | disease | C1850303 | GermlineCausalMutation | 0.31 | orphanet , disgenet |
| Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive | RRM2B | disease | C1850303 | GeneticVariation | 0.01 | disgenet |
| Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive | SPG7 | disease | C1850303 | Biomarker | 0.01 | disgenet |
| click here to return to the previous page | ||||||