Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Mitochondrial Encephalomyopathies TRNL1 disease C0162666 Biomarker 0.42 disgenet
Mitochondrial Encephalomyopathies TRNL1 disease C0162666 CausalMutation 0.42 disgenet
Mitochondrial Encephalomyopathies TRNL1 disease C0162666 GeneticVariation 0.42 disgenet
Mitochondrial Encephalomyopathies NDUFV2 disease C0162666 Biomarker 0.3 disgenet
Mitochondrial Encephalomyopathies NDUFS2 disease C0162666 Biomarker 0.3 disgenet
Mitochondrial Encephalomyopathies DNM1L disease C0162666 Biomarker 0.3 disgenet
Mitochondrial Encephalomyopathies TMEM70 disease C0162666 Biomarker 0.3 disgenet
Mitochondrial Encephalomyopathies SCO2 disease C0162666 Biomarker 0.3 disgenet
Mitochondrial Encephalomyopathies C12orf65 disease C0162666 Biomarker 0.3 disgenet
Mitochondrial Encephalomyopathies FOXRED1 disease C0162666 Biomarker 0.3 disgenet
Mitochondrial Encephalomyopathies CYTB disease C0162666 GeneticVariation 0.11 disgenet
Mitochondrial Encephalomyopathies CYTB disease C0162666 CausalMutation 0.11 disgenet
Mitochondrial Encephalomyopathies FBXL4 disease C0162666 GeneticVariation 0.11 disgenet
Mitochondrial Encephalomyopathies TRNR disease C0162666 CausalMutation 0.1 disgenet
Mitochondrial Encephalomyopathies FARS2 disease C0162666 GeneticVariation 0.1 disgenet
Mitochondrial Encephalomyopathies MFF disease C0162666 GeneticVariation 0.1 disgenet
Mitochondrial Encephalomyopathies MTFMT disease C0162666 CausalMutation 0.1 disgenet
Mitochondrial Encephalomyopathies TRNL2 disease C0162666 CausalMutation 0.1 disgenet
Mitochondrial Encephalomyopathies TRNW disease C0162666 CausalMutation 0.1 disgenet
Mitochondrial Encephalomyopathies ATP6 disease C0162666 GeneticVariation 0.03 disgenet
Mitochondrial Encephalomyopathies ND5 disease C0162666 GeneticVariation 0.03 disgenet
Mitochondrial Encephalomyopathies ATP6 disease C0162666 Biomarker 0.03 disgenet
Mitochondrial Encephalomyopathies VARS2 disease C0162666 GeneticVariation 0.03 disgenet
Mitochondrial Encephalomyopathies FASTKD2 disease C0162666 GeneticVariation 0.02 orphanet , disgenet
Mitochondrial Encephalomyopathies AIFM1 disease C0162666 GeneticVariation 0.02 orphanet , disgenet
Mitochondrial Encephalomyopathies COX2 disease C0162666 GeneticVariation 0.02 disgenet
Mitochondrial Encephalomyopathies TARS2 disease C0162666 GeneticVariation 0.02 disgenet
Mitochondrial Encephalomyopathies TK2 disease C0162666 GeneticVariation 0.02 disgenet
Mitochondrial Encephalomyopathies TMEM65 disease C0162666 GeneticVariation 0.01 disgenet
Mitochondrial Encephalomyopathies NDUFA1 disease C0162666 GeneticVariation 0.01 disgenet
Mitochondrial Encephalomyopathies SUCLG1 disease C0162666 GeneticVariation 0.01 disgenet
Mitochondrial Encephalomyopathies OPA1 disease C0162666 GeneticVariation 0.01 disgenet
Mitochondrial Encephalomyopathies RARS2 disease C0162666 GeneticVariation 0.01 disgenet
Mitochondrial Encephalomyopathies GUCA1A disease C0162666 GeneticVariation 0.01 disgenet
Mitochondrial Encephalomyopathies TTC19 disease C0162666 GeneticVariation 0.01 disgenet
Mitochondrial Encephalomyopathies NDUFS4 disease C0162666 Biomarker 0.01 disgenet
Mitochondrial Encephalomyopathies NDUFB11 disease C0162666 Biomarker 0.01 disgenet
Mitochondrial Encephalomyopathies SLC25A42 disease C0162666 Biomarker 0.01 disgenet
Mitochondrial Encephalomyopathies AARS2 disease C0162666 GeneticVariation 0.01 disgenet
Mitochondrial Encephalomyopathies VDAC1 disease C0162666 Biomarker 0.01 disgenet
Mitochondrial Encephalomyopathies RPE65 disease C0162666 GeneticVariation 0.01 disgenet
Mitochondrial Encephalomyopathies GFER disease C0162666 Biomarker 0.01 disgenet
Mitochondrial Encephalomyopathies TFAM disease C0162666 AlteredExpression 0.01 disgenet
Mitochondrial Encephalomyopathies RNASEH1 disease C0162666 GeneticVariation 0.01 disgenet
Mitochondrial Encephalomyopathies TRNK disease C0162666 GeneticVariation 0.01 disgenet
Mitochondrial Encephalomyopathies RERE disease C0162666 GeneticVariation 0.01 disgenet
Mitochondrial Encephalomyopathies ACAD9 disease C0162666 GeneticVariation 0.01 disgenet
Mitochondrial Encephalomyopathies SUCLA2 disease C0162666 GeneticVariation 0.01 disgenet
Mitochondrial Encephalomyopathies ABL2 disease C0162666 GeneticVariation 0.01 disgenet
Mitochondrial Encephalomyopathies COQ4 disease C0162666 GeneticVariation 0.01 disgenet
Mitochondrial Encephalomyopathies AIPL1 disease C0162666 Biomarker 0.01 disgenet
Mitochondrial Encephalomyopathies MMP1 disease C0162666 AlteredExpression 0.01 disgenet
Mitochondrial Encephalomyopathies NDUFAF4 disease C0162666 GeneticVariation 0.01 disgenet
Mitochondrial Encephalomyopathies NTF4 disease C0162666 AlteredExpression 0.01 disgenet
Mitochondrial Encephalomyopathies PRPF8 disease C0162666 GeneticVariation 0.01 disgenet
Mitochondrial Encephalomyopathies MSTN disease C0162666 AlteredExpression 0.01 disgenet
Mitochondrial Encephalomyopathies MTCO2P12 disease C0162666 GeneticVariation 0.01 disgenet
Mitochondrial Encephalomyopathies TYMP NA C0162666 NA NA orphanet
Mitochondrial Encephalomyopathies RRM2B NA C0162666 NA NA orphanet
Mitochondrial Encephalomyopathies LIG3 NA C0162666 NA NA orphanet
Mitochondrial Encephalomyopathies POLG NA C0162666 NA NA orphanet
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