Disease Information
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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