Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Mitochondrial encephalopathy NDUFS1 disease C1852373 GeneticVariation 0.11 disgenet
Mitochondrial encephalopathy BCS1L disease C1852373 Biomarker 0.11 disgenet
Mitochondrial encephalopathy BCS1L disease C1852373 GeneticVariation 0.11 disgenet
Mitochondrial encephalopathy TIMM50 disease C1852373 CausalMutation 0.1 disgenet
Mitochondrial encephalopathy TRNF disease C1852373 CausalMutation 0.1 disgenet
Mitochondrial encephalopathy COX3 disease C1852373 GeneticVariation 0.1 disgenet
Mitochondrial encephalopathy TRNW disease C1852373 CausalMutation 0.1 disgenet
Mitochondrial encephalopathy SLC12A3 disease C1852373 Biomarker 0.1 disgenet
Mitochondrial encephalopathy CLCNKB disease C1852373 Biomarker 0.1 disgenet
Mitochondrial encephalopathy NDUFS4 disease C1852373 Biomarker 0.02 disgenet
Mitochondrial encephalopathy NDUFS4 disease C1852373 GeneticVariation 0.02 disgenet
Mitochondrial encephalopathy GFM1 disease C1852373 GeneticVariation 0.02 disgenet
Mitochondrial encephalopathy CRAT disease C1852373 GeneticVariation 0.01 disgenet
Mitochondrial encephalopathy TWNK disease C1852373 GeneticVariation 0.01 disgenet
Mitochondrial encephalopathy LINC01672 disease C1852373 GeneticVariation 0.01 disgenet
Mitochondrial encephalopathy NEFL disease C1852373 AlteredExpression 0.01 disgenet
Mitochondrial encephalopathy POLG disease C1852373 GeneticVariation 0.01 disgenet
Mitochondrial encephalopathy COQ8A disease C1852373 GeneticVariation 0.01 disgenet
Mitochondrial encephalopathy NUBPL disease C1852373 Biomarker 0.01 disgenet
Mitochondrial encephalopathy BCAP31 disease C1852373 Biomarker 0.01 disgenet
Mitochondrial encephalopathy ND3 disease C1852373 GeneticVariation 0.01 disgenet
Mitochondrial encephalopathy FARS2 disease C1852373 GeneticVariation 0.01 disgenet
Mitochondrial encephalopathy FBXL4 disease C1852373 GeneticVariation 0.01 disgenet
Mitochondrial encephalopathy ATP5F1A disease C1852373 Biomarker 0.01 disgenet
Mitochondrial encephalopathy PLPBP disease C1852373 GeneticVariation 0.01 disgenet
Mitochondrial encephalopathy PPARGC1A disease C1852373 Biomarker 0.01 disgenet
Mitochondrial encephalopathy LYRM7 disease C1852373 Biomarker 0.01 disgenet
Mitochondrial encephalopathy SURF1 disease C1852373 GeneticVariation 0.01 disgenet
Mitochondrial encephalopathy MICOS13 disease C1852373 GeneticVariation 0.01 disgenet
Mitochondrial encephalopathy PINK1 disease C1852373 GeneticVariation 0.01 disgenet
Mitochondrial encephalopathy DNM1L disease C1852373 Biomarker 0.01 orphanet , disgenet
Mitochondrial encephalopathy VARS2 disease C1852373 Biomarker 0.01 disgenet
Mitochondrial encephalopathy WARS2 disease C1852373 GeneticVariation 0.01 disgenet
Mitochondrial encephalopathy AIFM1 disease C1852373 GeneticVariation 0.01 disgenet
Mitochondrial encephalopathy MFF NA C1852373 NA NA orphanet
click here to return to the previous page