Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
MELAS Syndrome ND5 disease C0162671 GermlineCausalMutation 0.78 disgenet
MELAS Syndrome ND5 disease C0162671 GeneticVariation 0.78 disgenet
MELAS Syndrome ND5 disease C0162671 Biomarker 0.78 disgenet
MELAS Syndrome ND5 disease C0162671 CausalMutation 0.78 disgenet
MELAS Syndrome ND1 disease C0162671 Biomarker 0.74 disgenet
MELAS Syndrome ND1 disease C0162671 GermlineCausalMutation 0.74 disgenet
MELAS Syndrome ND1 disease C0162671 GeneticVariation 0.74 disgenet
MELAS Syndrome ND1 disease C0162671 CausalMutation 0.74 disgenet
MELAS Syndrome ND6 disease C0162671 Biomarker 0.71 disgenet
MELAS Syndrome ND6 disease C0162671 GeneticVariation 0.71 disgenet
MELAS Syndrome ND6 disease C0162671 GermlineCausalMutation 0.71 disgenet
MELAS Syndrome ND6 disease C0162671 CausalMutation 0.71 disgenet
MELAS Syndrome TRNW disease C0162671 GeneticVariation 0.61 disgenet
MELAS Syndrome TRNW disease C0162671 CausalMutation 0.61 disgenet
MELAS Syndrome TRNW disease C0162671 Biomarker 0.61 disgenet
MELAS Syndrome TRNS1 disease C0162671 GeneticVariation 0.61 disgenet
MELAS Syndrome TRNW disease C0162671 GermlineCausalMutation 0.61 disgenet
MELAS Syndrome TRNS1 disease C0162671 CausalMutation 0.61 disgenet
MELAS Syndrome TRNS1 disease C0162671 GermlineCausalMutation 0.61 disgenet
MELAS Syndrome TRNS1 disease C0162671 Biomarker 0.61 disgenet
MELAS Syndrome TRNF disease C0162671 GermlineCausalMutation 0.6 disgenet
MELAS Syndrome TRNQ disease C0162671 CausalMutation 0.6 disgenet
MELAS Syndrome TRNQ disease C0162671 Biomarker 0.6 disgenet
MELAS Syndrome TRNQ disease C0162671 GeneticVariation 0.6 disgenet
MELAS Syndrome COX1 disease C0162671 GermlineCausalMutation 0.6 disgenet
MELAS Syndrome TRNF disease C0162671 CausalMutation 0.6 disgenet
MELAS Syndrome COX1 disease C0162671 Biomarker 0.6 disgenet
MELAS Syndrome COX1 disease C0162671 CausalMutation 0.6 disgenet
MELAS Syndrome TRNF disease C0162671 Biomarker 0.6 disgenet
MELAS Syndrome COX2 disease C0162671 GeneticVariation 0.52 disgenet
MELAS Syndrome COX2 disease C0162671 GermlineCausalMutation 0.52 disgenet
MELAS Syndrome COX2 disease C0162671 Biomarker 0.52 disgenet
MELAS Syndrome COX3 disease C0162671 Biomarker 0.51 disgenet
MELAS Syndrome COX3 disease C0162671 GeneticVariation 0.51 disgenet
MELAS Syndrome ND4 disease C0162671 GeneticVariation 0.5 disgenet
MELAS Syndrome ND4 disease C0162671 GermlineCausalMutation 0.5 disgenet
MELAS Syndrome TRNS2 disease C0162671 GeneticVariation 0.5 disgenet
MELAS Syndrome TRNL1 disease C0162671 Biomarker 0.5 disgenet
MELAS Syndrome TRNL1 disease C0162671 GeneticVariation 0.5 disgenet
MELAS Syndrome TRNL1 disease C0162671 CausalMutation 0.5 disgenet
MELAS Syndrome TRNS2 disease C0162671 Biomarker 0.5 disgenet
MELAS Syndrome TRNC disease C0162671 CausalMutation 0.4 disgenet
MELAS Syndrome TRNH disease C0162671 GeneticVariation 0.4 disgenet
MELAS Syndrome TRNC disease C0162671 Biomarker 0.4 disgenet
MELAS Syndrome TRNK disease C0162671 CausalMutation 0.4 disgenet
MELAS Syndrome TRNV disease C0162671 GeneticVariation 0.4 disgenet
MELAS Syndrome TRNV disease C0162671 CausalMutation 0.4 disgenet
MELAS Syndrome TRNH disease C0162671 CausalMutation 0.4 disgenet
MELAS Syndrome TRNK disease C0162671 Biomarker 0.4 disgenet
MELAS Syndrome TRNV disease C0162671 Biomarker 0.4 disgenet
MELAS Syndrome CYTB disease C0162671 Biomarker 0.31 disgenet
MELAS Syndrome CYTB disease C0162671 GeneticVariation 0.31 disgenet
MELAS Syndrome SOD2 disease C0162671 Biomarker 0.31 disgenet
MELAS Syndrome SOD2 disease C0162671 AlteredExpression 0.31 disgenet
MELAS Syndrome IL1B disease C0162671 Biomarker 0.3 disgenet
MELAS Syndrome SOD1 disease C0162671 Biomarker 0.3 disgenet
MELAS Syndrome IL1A disease C0162671 Biomarker 0.3 disgenet
MELAS Syndrome ATP6 disease C0162671 GeneticVariation 0.13 disgenet
MELAS Syndrome ATP6 disease C0162671 CausalMutation 0.13 disgenet
MELAS Syndrome TRNA disease C0162671 CausalMutation 0.11 disgenet
MELAS Syndrome TRNA disease C0162671 GeneticVariation 0.11 disgenet
MELAS Syndrome TRNL2 disease C0162671 CausalMutation 0.1 disgenet
MELAS Syndrome NDUFS1 disease C0162671 GeneticVariation 0.1 disgenet
MELAS Syndrome TRNN disease C0162671 CausalMutation 0.1 disgenet
MELAS Syndrome TRNP disease C0162671 CausalMutation 0.1 disgenet
MELAS Syndrome TRNE disease C0162671 GeneticVariation 0.1 disgenet
MELAS Syndrome TRNI disease C0162671 GeneticVariation 0.1 disgenet
MELAS Syndrome POLG disease C0162671 GeneticVariation 0.07 disgenet
MELAS Syndrome POLG disease C0162671 Biomarker 0.07 disgenet
MELAS Syndrome NPTX2 disease C0162671 GeneticVariation 0.03 disgenet
MELAS Syndrome NPTX2 disease C0162671 Biomarker 0.03 disgenet
MELAS Syndrome MTCO2P12 disease C0162671 Biomarker 0.02 disgenet
MELAS Syndrome CPOX disease C0162671 Biomarker 0.02 disgenet
MELAS Syndrome MTCO2P12 disease C0162671 GeneticVariation 0.02 disgenet
MELAS Syndrome COX8A disease C0162671 Biomarker 0.02 disgenet
MELAS Syndrome COX5A disease C0162671 Biomarker 0.02 disgenet
MELAS Syndrome TWNK disease C0162671 GeneticVariation 0.02 disgenet
MELAS Syndrome TWNK disease C0162671 Biomarker 0.02 disgenet
MELAS Syndrome NDUFV1 disease C0162671 GeneticVariation 0.01 disgenet
MELAS Syndrome RERE disease C0162671 GeneticVariation 0.01 disgenet
MELAS Syndrome MAPKAP1 disease C0162671 GeneticVariation 0.01 disgenet
MELAS Syndrome SORD disease C0162671 Biomarker 0.01 disgenet
MELAS Syndrome RARS2 disease C0162671 GeneticVariation 0.01 disgenet
MELAS Syndrome FASTKD2 disease C0162671 GeneticVariation 0.01 disgenet
MELAS Syndrome ACTB disease C0162671 GeneticVariation 0.01 disgenet
MELAS Syndrome TG disease C0162671 Biomarker 0.01 disgenet
MELAS Syndrome CALB1 disease C0162671 AlteredExpression 0.01 disgenet
MELAS Syndrome PPARGC1A disease C0162671 GeneticVariation 0.01 disgenet
MELAS Syndrome ASNS disease C0162671 Biomarker 0.01 disgenet
MELAS Syndrome DDIT3 disease C0162671 Biomarker 0.01 disgenet
MELAS Syndrome RNR2 disease C0162671 AlteredExpression 0.01 disgenet
MELAS Syndrome SDHB disease C0162671 Biomarker 0.01 disgenet
MELAS Syndrome P2RX2 disease C0162671 GeneticVariation 0.01 disgenet
MELAS Syndrome COQ8A disease C0162671 GeneticVariation 0.01 disgenet
MELAS Syndrome PRPF6 disease C0162671 AlteredExpression 0.01 disgenet
MELAS Syndrome TOMM20 disease C0162671 Biomarker 0.01 disgenet
MELAS Syndrome MRM2 disease C0162671 Biomarker 0.01 disgenet
MELAS Syndrome FH disease C0162671 Biomarker 0.01 disgenet
MELAS Syndrome COL4A1 disease C0162671 GeneticVariation 0.01 disgenet
MELAS Syndrome ABL2 disease C0162671 GeneticVariation 0.01 disgenet
MELAS Syndrome LINC01672 disease C0162671 Biomarker 0.01 disgenet
MELAS Syndrome TPO disease C0162671 Biomarker 0.01 disgenet
MELAS Syndrome MTERF1 disease C0162671 GeneticVariation 0.01 disgenet
MELAS Syndrome ATXN3 disease C0162671 GeneticVariation 0.01 disgenet
MELAS Syndrome PNP disease C0162671 Biomarker 0.01 disgenet
MELAS Syndrome ND3 disease C0162671 GeneticVariation 0.01 disgenet
MELAS Syndrome SDS disease C0162671 Biomarker 0.01 disgenet
MELAS Syndrome SLC25A4 disease C0162671 AlteredExpression 0.01 disgenet
MELAS Syndrome TNFSF10 disease C0162671 GeneticVariation 0.01 disgenet
MELAS Syndrome PRSS1 disease C0162671 GeneticVariation 0.01 disgenet
MELAS Syndrome MIR27B disease C0162671 Biomarker 0.01 disgenet
MELAS Syndrome TRMU disease C0162671 AlteredExpression 0.01 disgenet
MELAS Syndrome OR10T2 disease C0162671 Biomarker 0.01 disgenet
MELAS Syndrome NDUFA1 disease C0162671 GeneticVariation 0.01 disgenet
MELAS Syndrome GLIS3 disease C0162671 GeneticVariation 0.01 disgenet
MELAS Syndrome RNR1 disease C0162671 GeneticVariation 0.01 disgenet
MELAS Syndrome GFM2 disease C0162671 GeneticVariation 0.01 disgenet
MELAS Syndrome SARDH disease C0162671 Biomarker 0.01 disgenet
MELAS Syndrome TFAM disease C0162671 AlteredExpression 0.01 disgenet
MELAS Syndrome FGF21 disease C0162671 Biomarker 0.01 disgenet
MELAS Syndrome MTOR disease C0162671 Biomarker 0.01 disgenet
MELAS Syndrome MT-ND6 NA C0162671 NA NA orphanet
MELAS Syndrome MT-TW NA C0162671 NA NA orphanet
MELAS Syndrome MT-TL1 NA C0162671 NA NA orphanet
MELAS Syndrome MT-TS2 NA C0162671 NA NA orphanet
MELAS Syndrome MT-TQ NA C0162671 NA NA orphanet
MELAS Syndrome MT-ND4 NA C0162671 NA NA orphanet
MELAS Syndrome MT-TS1 NA C0162671 NA NA orphanet
MELAS Syndrome MT-TF NA C0162671 NA NA orphanet
MELAS Syndrome MT-TH NA C0162671 NA NA orphanet
MELAS Syndrome MT-ND5 NA C0162671 NA NA orphanet
MELAS Syndrome MT-ND1 NA C0162671 NA NA orphanet
MELAS Syndrome MT-CO2 NA C0162671 NA NA orphanet
MELAS Syndrome MT-CO1 NA C0162671 NA NA orphanet
MELAS Syndrome MT-CO3 NA C0162671 NA NA orphanet
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