Disease Information | ||||||
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Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
MERRF Syndrome | TRNL1 | disease | C0162672 | GeneticVariation | 0.62 | disgenet |
MERRF Syndrome | TRNL1 | disease | C0162672 | Biomarker | 0.62 | disgenet |
MERRF Syndrome | TRNL1 | disease | C0162672 | CausalMutation | 0.62 | disgenet |
MERRF Syndrome | TRNL1 | disease | C0162672 | GermlineCausalMutation | 0.62 | disgenet |
MERRF Syndrome | TRNF | disease | C0162672 | CausalMutation | 0.6 | disgenet |
MERRF Syndrome | TRNP | disease | C0162672 | CausalMutation | 0.6 | disgenet |
MERRF Syndrome | TRNF | disease | C0162672 | GermlineCausalMutation | 0.6 | disgenet |
MERRF Syndrome | TRNF | disease | C0162672 | Biomarker | 0.6 | disgenet |
MERRF Syndrome | TRNP | disease | C0162672 | GermlineCausalMutation | 0.6 | disgenet |
MERRF Syndrome | TRNP | disease | C0162672 | Biomarker | 0.6 | disgenet |
MERRF Syndrome | TRNK | disease | C0162672 | Biomarker | 0.43 | disgenet |
MERRF Syndrome | TRNK | disease | C0162672 | GeneticVariation | 0.43 | disgenet |
MERRF Syndrome | TRNK | disease | C0162672 | CausalMutation | 0.43 | disgenet |
MERRF Syndrome | ND5 | disease | C0162672 | CausalMutation | 0.4 | disgenet |
MERRF Syndrome | ND5 | disease | C0162672 | GermlineCausalMutation | 0.4 | disgenet |
MERRF Syndrome | TRNI | disease | C0162672 | CausalMutation | 0.4 | disgenet |
MERRF Syndrome | TRNI | disease | C0162672 | Biomarker | 0.4 | disgenet |
MERRF Syndrome | TRNQ | disease | C0162672 | GeneticVariation | 0.3 | disgenet |
MERRF Syndrome | IL1B | disease | C0162672 | Biomarker | 0.3 | disgenet |
MERRF Syndrome | TRNS1 | disease | C0162672 | GermlineCausalMutation | 0.3 | disgenet |
MERRF Syndrome | IL1A | disease | C0162672 | Biomarker | 0.3 | disgenet |
MERRF Syndrome | TRNS2 | disease | C0162672 | GeneticVariation | 0.3 | disgenet |
MERRF Syndrome | RNR1 | disease | C0162672 | GeneticVariation | 0.3 | disgenet |
MERRF Syndrome | TRNH | disease | C0162672 | GermlineCausalMutation | 0.3 | disgenet |
MERRF Syndrome | TRNT | disease | C0162672 | CausalMutation | 0.1 | disgenet |
MERRF Syndrome | TK2 | disease | C0162672 | GeneticVariation | 0.03 | disgenet |
MERRF Syndrome | POLG | disease | C0162672 | GeneticVariation | 0.03 | disgenet |
MERRF Syndrome | HSPB3 | disease | C0162672 | GeneticVariation | 0.02 | disgenet |
MERRF Syndrome | HSPB1 | disease | C0162672 | GeneticVariation | 0.02 | disgenet |
MERRF Syndrome | MMP1 | disease | C0162672 | AlteredExpression | 0.02 | disgenet |
MERRF Syndrome | HSPB2 | disease | C0162672 | GeneticVariation | 0.02 | disgenet |
MERRF Syndrome | CLN3 | disease | C0162672 | GeneticVariation | 0.01 | disgenet |
MERRF Syndrome | FGF21 | disease | C0162672 | Biomarker | 0.01 | disgenet |
MERRF Syndrome | CSTB | disease | C0162672 | GeneticVariation | 0.01 | disgenet |
MERRF Syndrome | EPM2A | disease | C0162672 | GeneticVariation | 0.01 | disgenet |
MERRF Syndrome | SLC25A4 | disease | C0162672 | AlteredExpression | 0.01 | disgenet |
MERRF Syndrome | COX5A | disease | C0162672 | Biomarker | 0.01 | disgenet |
MERRF Syndrome | CPOX | disease | C0162672 | Biomarker | 0.01 | disgenet |
MERRF Syndrome | PLXNA2 | disease | C0162672 | Biomarker | 0.01 | disgenet |
MERRF Syndrome | TPP1 | disease | C0162672 | GeneticVariation | 0.01 | disgenet |
MERRF Syndrome | SPG7 | disease | C0162672 | GeneticVariation | 0.01 | disgenet |
MERRF Syndrome | TNFSF10 | disease | C0162672 | GeneticVariation | 0.01 | disgenet |
MERRF Syndrome | COQ8A | disease | C0162672 | GeneticVariation | 0.01 | disgenet |
MERRF Syndrome | RARS2 | disease | C0162672 | GeneticVariation | 0.01 | disgenet |
MERRF Syndrome | ACTB | disease | C0162672 | Biomarker | 0.01 | disgenet |
MERRF Syndrome | ATP6 | disease | C0162672 | GeneticVariation | 0.01 | disgenet |
MERRF Syndrome | AHSG | disease | C0162672 | Biomarker | 0.01 | disgenet |
MERRF Syndrome | PRKCD | disease | C0162672 | Biomarker | 0.01 | disgenet |
MERRF Syndrome | AFG3L2 | disease | C0162672 | GeneticVariation | 0.01 | disgenet |
MERRF Syndrome | CA8 | disease | C0162672 | PosttranslationalModification | 0.01 | disgenet |
MERRF Syndrome | RFX3 | disease | C0162672 | GeneticVariation | 0.01 | disgenet |
MERRF Syndrome | CLN5 | disease | C0162672 | GeneticVariation | 0.01 | disgenet |
MERRF Syndrome | COQ9 | disease | C0162672 | AlteredExpression | 0.01 | disgenet |
MERRF Syndrome | MTCO2P12 | disease | C0162672 | GeneticVariation | 0.01 | disgenet |
MERRF Syndrome | CARS2 | disease | C0162672 | Biomarker | 0.01 | disgenet |
MERRF Syndrome | SOD2 | disease | C0162672 | AlteredExpression | 0.01 | disgenet |
MERRF Syndrome | NAE1 | disease | C0162672 | Biomarker | 0.01 | disgenet |
MERRF Syndrome | COX8A | disease | C0162672 | Biomarker | 0.01 | disgenet |
MERRF Syndrome | TRMU | disease | C0162672 | AlteredExpression | 0.01 | disgenet |
MERRF Syndrome | COX2 | disease | C0162672 | GeneticVariation | 0.01 | disgenet |
MERRF Syndrome | PRPF6 | disease | C0162672 | AlteredExpression | 0.01 | disgenet |
MERRF Syndrome | OPA1 | disease | C0162672 | Biomarker | 0.01 | disgenet |
MERRF Syndrome | MT-TP | NA | C0162672 | NA | NA | orphanet |
MERRF Syndrome | MT-TS2 | NA | C0162672 | NA | NA | orphanet |
MERRF Syndrome | MT-TL1 | NA | C0162672 | NA | NA | orphanet |
MERRF Syndrome | MT-TF | NA | C0162672 | NA | NA | orphanet |
MERRF Syndrome | MT-TQ | NA | C0162672 | NA | NA | orphanet |
MERRF Syndrome | MT-TH | NA | C0162672 | NA | NA | orphanet |
MERRF Syndrome | MT-TS1 | NA | C0162672 | NA | NA | orphanet |
MERRF Syndrome | MT-ND5 | NA | C0162672 | NA | NA | orphanet |
MERRF Syndrome | MT-TK | NA | C0162672 | NA | NA | orphanet |
MERRF Syndrome | MT-RNR1 | NA | C0162672 | NA | NA | orphanet |
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