| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Ophthalmoplegia, Chronic Progressive External | POLG | disease | C0162674 | Biomarker | 0.5 | orphanet , disgenet |
| Ophthalmoplegia, Chronic Progressive External | POLG | disease | C0162674 | GeneticVariation | 0.5 | orphanet , disgenet |
| Ophthalmoplegia, Chronic Progressive External | TRNN | disease | C0162674 | GermlineCausalMutation | 0.4 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | TRNS1 | disease | C0162674 | GermlineCausalMutation | 0.4 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | TRNS1 | disease | C0162674 | Biomarker | 0.4 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | TRNL2 | disease | C0162674 | Biomarker | 0.4 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | TRNN | disease | C0162674 | Biomarker | 0.4 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | TRNL2 | disease | C0162674 | GermlineCausalMutation | 0.4 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | TRNL1 | disease | C0162674 | GeneticVariation | 0.4 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | TRNL1 | disease | C0162674 | Biomarker | 0.4 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | SOD2 | disease | C0162674 | AlteredExpression | 0.32 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | SOD2 | disease | C0162674 | Biomarker | 0.32 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | IL1A | disease | C0162674 | Biomarker | 0.3 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | SOD1 | disease | C0162674 | Biomarker | 0.3 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | IL1B | disease | C0162674 | Biomarker | 0.3 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | SLC25A4 | disease | C0162674 | Biomarker | 0.2 | orphanet , disgenet |
| Ophthalmoplegia, Chronic Progressive External | TWNK | disease | C0162674 | Biomarker | 0.2 | orphanet , disgenet |
| Ophthalmoplegia, Chronic Progressive External | TWNK | disease | C0162674 | GeneticVariation | 0.2 | orphanet , disgenet |
| Ophthalmoplegia, Chronic Progressive External | SLC25A4 | disease | C0162674 | GeneticVariation | 0.2 | orphanet , disgenet |
| Ophthalmoplegia, Chronic Progressive External | POLG2 | disease | C0162674 | Biomarker | 0.13 | orphanet , disgenet |
| Ophthalmoplegia, Chronic Progressive External | RRM2B | disease | C0162674 | Biomarker | 0.13 | orphanet , disgenet |
| Ophthalmoplegia, Chronic Progressive External | POLG2 | disease | C0162674 | GeneticVariation | 0.13 | orphanet , disgenet |
| Ophthalmoplegia, Chronic Progressive External | RRM2B | disease | C0162674 | GeneticVariation | 0.13 | orphanet , disgenet |
| Ophthalmoplegia, Chronic Progressive External | TYMP | disease | C0162674 | GeneticVariation | 0.12 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | TK2 | disease | C0162674 | Biomarker | 0.12 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | TYMP | disease | C0162674 | Biomarker | 0.12 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | TK2 | disease | C0162674 | GeneticVariation | 0.12 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | TOP3A | disease | C0162674 | GeneticVariation | 0.11 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | TOP3A | disease | C0162674 | Biomarker | 0.11 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | C1QBP | disease | C0162674 | Biomarker | 0.11 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | DGUOK | disease | C0162674 | Biomarker | 0.11 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | DGUOK | disease | C0162674 | GeneticVariation | 0.11 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | ATP8 | disease | C0162674 | Biomarker | 0.1 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | DNA2 | disease | C0162674 | Biomarker | 0.1 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | MGME1 | disease | C0162674 | Biomarker | 0.1 | orphanet , disgenet |
| Ophthalmoplegia, Chronic Progressive External | TRNT | disease | C0162674 | Biomarker | 0.1 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | TRNK | disease | C0162674 | Biomarker | 0.1 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | RNASEH1 | disease | C0162674 | Biomarker | 0.1 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | APTX | disease | C0162674 | Biomarker | 0.1 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | ATXN3 | disease | C0162674 | Biomarker | 0.1 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | PRPF6 | disease | C0162674 | GeneticVariation | 0.09 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | PRPF6 | disease | C0162674 | Biomarker | 0.09 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | CHMP1B | disease | C0162674 | Biomarker | 0.06 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | CHMP1B | disease | C0162674 | GeneticVariation | 0.06 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | OPA1 | disease | C0162674 | GeneticVariation | 0.02 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | TRNI | disease | C0162674 | GeneticVariation | 0.02 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | MAPKAP1 | disease | C0162674 | GeneticVariation | 0.01 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | SCO2 | disease | C0162674 | GeneticVariation | 0.01 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | RNR2 | disease | C0162674 | GeneticVariation | 0.01 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | FGF21 | disease | C0162674 | AlteredExpression | 0.01 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | PTGS2 | disease | C0162674 | Biomarker | 0.01 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | CYTB | disease | C0162674 | Biomarker | 0.01 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | RNR2 | disease | C0162674 | AlteredExpression | 0.01 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | MTCO2P12 | disease | C0162674 | Biomarker | 0.01 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | NPTX2 | disease | C0162674 | Biomarker | 0.01 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | GJB1 | disease | C0162674 | GeneticVariation | 0.01 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | POLRMT | disease | C0162674 | GeneticVariation | 0.01 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | AFG3L2 | disease | C0162674 | GeneticVariation | 0.01 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | TRNM | disease | C0162674 | GeneticVariation | 0.01 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | TYR | disease | C0162674 | GeneticVariation | 0.01 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | TNPO1 | disease | C0162674 | GeneticVariation | 0.01 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | TRNE | disease | C0162674 | GeneticVariation | 0.01 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | RPTOR | disease | C0162674 | GeneticVariation | 0.01 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | COX2 | disease | C0162674 | Biomarker | 0.01 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | SPG7 | disease | C0162674 | GeneticVariation | 0.01 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | PRIMPOL | disease | C0162674 | GeneticVariation | 0.01 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | TFAM | disease | C0162674 | GeneticVariation | 0.01 | disgenet |
| Ophthalmoplegia, Chronic Progressive External | MT-TL2 | NA | C0162674 | NA | NA | orphanet |
| Ophthalmoplegia, Chronic Progressive External | MT-TS1 | NA | C0162674 | NA | NA | orphanet |
| Ophthalmoplegia, Chronic Progressive External | MT-TL1 | NA | C0162674 | NA | NA | orphanet |
| Ophthalmoplegia, Chronic Progressive External | MT-TN | NA | C0162674 | NA | NA | orphanet |
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