| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Mitochondrial Myopathies | FDX2 | group | C0162670 | GeneticVariation | 0.71 | disgenet |
| Mitochondrial Myopathies | FDX2 | group | C0162670 | Biomarker | 0.71 | disgenet |
| Mitochondrial Myopathies | SLC25A4 | group | C0162670 | GeneticVariation | 0.42 | orphanet , disgenet |
| Mitochondrial Myopathies | SLC25A4 | group | C0162670 | Biomarker | 0.42 | orphanet , disgenet |
| Mitochondrial Myopathies | SLC25A4 | group | C0162670 | CausalMutation | 0.42 | orphanet , disgenet |
| Mitochondrial Myopathies | TRNW | group | C0162670 | CausalMutation | 0.41 | disgenet |
| Mitochondrial Myopathies | TRNW | group | C0162670 | Biomarker | 0.41 | disgenet |
| Mitochondrial Myopathies | TRNW | group | C0162670 | GeneticVariation | 0.41 | disgenet |
| Mitochondrial Myopathies | SLC25A42 | group | C0162670 | Biomarker | 0.41 | disgenet |
| Mitochondrial Myopathies | SLC25A42 | group | C0162670 | GeneticVariation | 0.41 | disgenet |
| Mitochondrial Myopathies | RRM2B | group | C0162670 | Biomarker | 0.4 | disgenet |
| Mitochondrial Myopathies | VDAC1 | group | C0162670 | Biomarker | 0.3 | disgenet |
| Mitochondrial Myopathies | IL1B | group | C0162670 | Biomarker | 0.3 | disgenet |
| Mitochondrial Myopathies | IL1A | group | C0162670 | Biomarker | 0.3 | disgenet |
| Mitochondrial Myopathies | IL6 | group | C0162670 | Biomarker | 0.3 | disgenet |
| Mitochondrial Myopathies | TNF | group | C0162670 | Biomarker | 0.3 | disgenet |
| Mitochondrial Myopathies | CAMKMT | group | C0162670 | Biomarker | 0.3 | disgenet |
| Mitochondrial Myopathies | COX10 | group | C0162670 | Biomarker | 0.2 | disgenet |
| Mitochondrial Myopathies | ADCK2 | group | C0162670 | Biomarker | 0.2 | disgenet |
| Mitochondrial Myopathies | TK2 | group | C0162670 | Biomarker | 0.19 | disgenet |
| Mitochondrial Myopathies | TK2 | group | C0162670 | GeneticVariation | 0.19 | disgenet |
| Mitochondrial Myopathies | TK2 | group | C0162670 | AlteredExpression | 0.19 | disgenet |
| Mitochondrial Myopathies | POLG | group | C0162670 | Biomarker | 0.15 | disgenet |
| Mitochondrial Myopathies | POLG | group | C0162670 | GeneticVariation | 0.15 | disgenet |
| Mitochondrial Myopathies | TRNK | group | C0162670 | Biomarker | 0.13 | disgenet |
| Mitochondrial Myopathies | TRNK | group | C0162670 | GeneticVariation | 0.13 | disgenet |
| Mitochondrial Myopathies | CYTB | group | C0162670 | GeneticVariation | 0.13 | disgenet |
| Mitochondrial Myopathies | CYTB | group | C0162670 | Biomarker | 0.13 | disgenet |
| Mitochondrial Myopathies | DNA2 | group | C0162670 | GeneticVariation | 0.12 | disgenet |
| Mitochondrial Myopathies | DNA2 | group | C0162670 | Biomarker | 0.12 | disgenet |
| Mitochondrial Myopathies | TRNM | group | C0162670 | CausalMutation | 0.12 | disgenet |
| Mitochondrial Myopathies | TRNM | group | C0162670 | GeneticVariation | 0.12 | disgenet |
| Mitochondrial Myopathies | NDUFV1 | group | C0162670 | Biomarker | 0.11 | disgenet |
| Mitochondrial Myopathies | ND4 | group | C0162670 | Biomarker | 0.11 | disgenet |
| Mitochondrial Myopathies | PUS1 | group | C0162670 | Biomarker | 0.11 | orphanet , disgenet |
| Mitochondrial Myopathies | ISCU | group | C0162670 | GeneticVariation | 0.11 | disgenet |
| Mitochondrial Myopathies | TRNF | group | C0162670 | Biomarker | 0.11 | disgenet |
| Mitochondrial Myopathies | TYMP | group | C0162670 | Biomarker | 0.11 | disgenet |
| Mitochondrial Myopathies | NDUFA1 | group | C0162670 | Biomarker | 0.11 | disgenet |
| Mitochondrial Myopathies | PUS1 | group | C0162670 | GeneticVariation | 0.11 | orphanet , disgenet |
| Mitochondrial Myopathies | YARS2 | group | C0162670 | Biomarker | 0.11 | orphanet , disgenet |
| Mitochondrial Myopathies | ISCU | group | C0162670 | Biomarker | 0.11 | disgenet |
| Mitochondrial Myopathies | COX1 | group | C0162670 | Biomarker | 0.11 | disgenet |
| Mitochondrial Myopathies | ND4 | group | C0162670 | GeneticVariation | 0.11 | disgenet |
| Mitochondrial Myopathies | NDUFA1 | group | C0162670 | GeneticVariation | 0.11 | disgenet |
| Mitochondrial Myopathies | TWNK | group | C0162670 | Biomarker | 0.11 | disgenet |
| Mitochondrial Myopathies | ATP6 | group | C0162670 | Biomarker | 0.11 | disgenet |
| Mitochondrial Myopathies | COX2 | group | C0162670 | Biomarker | 0.11 | disgenet |
| Mitochondrial Myopathies | TRNL1 | group | C0162670 | GeneticVariation | 0.11 | disgenet |
| Mitochondrial Myopathies | TWNK | group | C0162670 | GeneticVariation | 0.11 | disgenet |
| Mitochondrial Myopathies | ATP6 | group | C0162670 | GeneticVariation | 0.11 | disgenet |
| Mitochondrial Myopathies | COX2 | group | C0162670 | GeneticVariation | 0.11 | disgenet |
| Mitochondrial Myopathies | TRNF | group | C0162670 | GeneticVariation | 0.11 | disgenet |
| Mitochondrial Myopathies | COX1 | group | C0162670 | GeneticVariation | 0.11 | disgenet |
| Mitochondrial Myopathies | TRNL1 | group | C0162670 | Biomarker | 0.11 | disgenet |
| Mitochondrial Myopathies | NDUFAF1 | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | NDUFS4 | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | TRNQ | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | TMEM126B | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | TRNA | group | C0162670 | CausalMutation | 0.1 | disgenet |
| Mitochondrial Myopathies | ND2 | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | TRNS2 | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | NDUFS6 | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | FOXRED1 | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | MSTO1 | group | C0162670 | Biomarker | 0.1 | orphanet , disgenet |
| Mitochondrial Myopathies | NDUFAF4 | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | NDUFS2 | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | ND6 | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | NDUFS8 | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | TRNC | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | ND5 | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | NDUFAF3 | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | NDUFB3 | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | AGK | group | C0162670 | Biomarker | 0.1 | orphanet , disgenet |
| Mitochondrial Myopathies | TRNS1 | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | NDUFAF5 | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | ND1 | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | DGUOK | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | NDUFV2 | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | NDUFA11 | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | COX3 | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | TIMMDC1 | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | TRNV | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | NDUFAF2 | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | PNPLA8 | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | POLG2 | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | NDUFB9 | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | TRNL2 | group | C0162670 | CausalMutation | 0.1 | disgenet |
| Mitochondrial Myopathies | NDUFA6 | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | CAV3 | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | NDUFS3 | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | ND3 | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | NDUFS1 | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | NDUFS7 | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | NDUFB10 | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | TRNH | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | NDUFB11 | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | NUBPL | group | C0162670 | Biomarker | 0.1 | disgenet |
| Mitochondrial Myopathies | GDF15 | group | C0162670 | AlteredExpression | 0.04 | disgenet |
| Mitochondrial Myopathies | CHCHD10 | group | C0162670 | GeneticVariation | 0.04 | orphanet , disgenet |
| Mitochondrial Myopathies | GDF15 | group | C0162670 | Biomarker | 0.04 | disgenet |
| Mitochondrial Myopathies | TFAM | group | C0162670 | Biomarker | 0.03 | disgenet |
| Mitochondrial Myopathies | FGF21 | group | C0162670 | Biomarker | 0.03 | disgenet |
| Mitochondrial Myopathies | TFAM | group | C0162670 | AlteredExpression | 0.03 | disgenet |
| Mitochondrial Myopathies | TBPL1 | group | C0162670 | GeneticVariation | 0.02 | disgenet |
| Mitochondrial Myopathies | OPA1 | group | C0162670 | GeneticVariation | 0.02 | disgenet |
| Mitochondrial Myopathies | OPA1 | group | C0162670 | Biomarker | 0.02 | disgenet |
| Mitochondrial Myopathies | TYRP1 | group | C0162670 | GeneticVariation | 0.02 | disgenet |
| Mitochondrial Myopathies | SLC25A5 | group | C0162670 | GeneticVariation | 0.01 | disgenet |
| Mitochondrial Myopathies | IFI30 | group | C0162670 | Biomarker | 0.01 | disgenet |
| Mitochondrial Myopathies | SLC25A21 | group | C0162670 | GeneticVariation | 0.01 | disgenet |
| Mitochondrial Myopathies | NFU1 | group | C0162670 | GeneticVariation | 0.01 | disgenet |
| Mitochondrial Myopathies | UCN | group | C0162670 | GeneticVariation | 0.01 | disgenet |
| Mitochondrial Myopathies | TMEM65 | group | C0162670 | GeneticVariation | 0.01 | disgenet |
| Mitochondrial Myopathies | MPV17 | group | C0162670 | GeneticVariation | 0.01 | disgenet |
| Mitochondrial Myopathies | LIG4 | group | C0162670 | Biomarker | 0.01 | disgenet |
| Mitochondrial Myopathies | MIEF2 | group | C0162670 | GeneticVariation | 0.01 | disgenet |
| Mitochondrial Myopathies | MTOR | group | C0162670 | AlteredExpression | 0.01 | disgenet |
| Mitochondrial Myopathies | CPOX | group | C0162670 | Biomarker | 0.01 | disgenet |
| Mitochondrial Myopathies | PPID | group | C0162670 | AlteredExpression | 0.01 | disgenet |
| Mitochondrial Myopathies | DHDDS | group | C0162670 | Biomarker | 0.01 | disgenet |
| Mitochondrial Myopathies | MTCO2P12 | group | C0162670 | GeneticVariation | 0.01 | disgenet |
| Mitochondrial Myopathies | OGG1 | group | C0162670 | Biomarker | 0.01 | disgenet |
| Mitochondrial Myopathies | PPIF | group | C0162670 | AlteredExpression | 0.01 | disgenet |
| Mitochondrial Myopathies | CHCHD2 | group | C0162670 | GeneticVariation | 0.01 | disgenet |
| Mitochondrial Myopathies | TMEM70 | group | C0162670 | GeneticVariation | 0.01 | orphanet , disgenet |
| Mitochondrial Myopathies | COX8A | group | C0162670 | Biomarker | 0.01 | disgenet |
| Mitochondrial Myopathies | SARS2 | group | C0162670 | GeneticVariation | 0.01 | disgenet |
| Mitochondrial Myopathies | CS | group | C0162670 | Biomarker | 0.01 | disgenet |
| Mitochondrial Myopathies | MET | group | C0162670 | GeneticVariation | 0.01 | disgenet |
| Mitochondrial Myopathies | GAA | group | C0162670 | Biomarker | 0.01 | disgenet |
| Mitochondrial Myopathies | COX5A | group | C0162670 | Biomarker | 0.01 | disgenet |
| Mitochondrial Myopathies | BCL2 | group | C0162670 | AlteredExpression | 0.01 | disgenet |
| Mitochondrial Myopathies | TIMM22 | group | C0162670 | GeneticVariation | 0.01 | disgenet |
| Mitochondrial Myopathies | CFH | group | C0162670 | AlteredExpression | 0.01 | disgenet |
| Mitochondrial Myopathies | NAT2 | group | C0162670 | GeneticVariation | 0.01 | disgenet |
| Mitochondrial Myopathies | SOD1 | group | C0162670 | GeneticVariation | 0.01 | disgenet |
| Mitochondrial Myopathies | MT1B | group | C0162670 | Biomarker | 0.01 | disgenet |
| Mitochondrial Myopathies | MTTP | group | C0162670 | Biomarker | 0.01 | disgenet |
| Mitochondrial Myopathies | NR2C2 | group | C0162670 | Biomarker | 0.01 | disgenet |
| Mitochondrial Myopathies | PPARGC1A | group | C0162670 | AlteredExpression | 0.01 | disgenet |
| Mitochondrial Myopathies | PERM1 | group | C0162670 | Biomarker | 0.01 | disgenet |
| Mitochondrial Myopathies | MYH7 | group | C0162670 | GeneticVariation | 0.01 | disgenet |
| Mitochondrial Myopathies | FXN | group | C0162670 | GeneticVariation | 0.01 | disgenet |
| Mitochondrial Myopathies | CHPT1 | group | C0162670 | Biomarker | 0.01 | disgenet |
| Mitochondrial Myopathies | TAZ | group | C0162670 | GeneticVariation | 0.01 | disgenet |
| Mitochondrial Myopathies | PRPF6 | group | C0162670 | GeneticVariation | 0.01 | disgenet |
| Mitochondrial Myopathies | MT-TE | NA | C0162670 | NA | NA | orphanet |
| Mitochondrial Myopathies | TRMU | NA | C0162670 | NA | NA | orphanet |
| Mitochondrial Myopathies | MT-TT | NA | C0162670 | NA | NA | orphanet |
| Mitochondrial Myopathies | TKFC | NA | C0162670 | NA | NA | orphanet |
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