Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Cytochrome-c Oxidase Deficiencies COX10 disease C0268237 GeneticVariation 0.94 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies SCO1 disease C0268237 Biomarker 0.94 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies COX10 disease C0268237 CausalMutation 0.94 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies COX10 disease C0268237 AlteredExpression 0.94 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies SCO1 disease C0268237 GeneticVariation 0.94 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies COX10 disease C0268237 Biomarker 0.94 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies SCO1 disease C0268237 CausalMutation 0.94 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies COX10 disease C0268237 GermlineCausalMutation 0.94 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies COX8A disease C0268237 GeneticVariation 0.75 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies COX8A disease C0268237 GermlineCausalMutation 0.75 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies COX8A disease C0268237 Biomarker 0.75 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies COX8A disease C0268237 CausalMutation 0.75 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies COA8 disease C0268237 CausalMutation 0.72 disgenet
Cytochrome-c Oxidase Deficiencies COA8 disease C0268237 Biomarker 0.72 disgenet
Cytochrome-c Oxidase Deficiencies COA8 disease C0268237 GeneticVariation 0.72 disgenet
Cytochrome-c Oxidase Deficiencies COX20 disease C0268237 GermlineCausalMutation 0.71 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies COX20 disease C0268237 CausalMutation 0.71 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies COX20 disease C0268237 Biomarker 0.71 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies COX20 disease C0268237 GeneticVariation 0.71 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies COX6B1 disease C0268237 Biomarker 0.7 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies COX6B1 disease C0268237 GermlineCausalMutation 0.7 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies COX6B1 disease C0268237 GeneticVariation 0.7 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies COX14 disease C0268237 GermlineCausalMutation 0.7 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies COX14 disease C0268237 CausalMutation 0.7 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies COX14 disease C0268237 Biomarker 0.7 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies COX6B1 disease C0268237 CausalMutation 0.7 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies COX2 disease C0268237 CausalMutation 0.64 disgenet
Cytochrome-c Oxidase Deficiencies COX2 disease C0268237 GeneticVariation 0.64 disgenet
Cytochrome-c Oxidase Deficiencies COX2 disease C0268237 Biomarker 0.64 disgenet
Cytochrome-c Oxidase Deficiencies COX2 disease C0268237 GermlineCausalMutation 0.64 disgenet
Cytochrome-c Oxidase Deficiencies COX1 disease C0268237 Biomarker 0.62 disgenet
Cytochrome-c Oxidase Deficiencies COX1 disease C0268237 CausalMutation 0.62 disgenet
Cytochrome-c Oxidase Deficiencies PET100 disease C0268237 GeneticVariation 0.62 disgenet
Cytochrome-c Oxidase Deficiencies COX1 disease C0268237 GeneticVariation 0.62 disgenet
Cytochrome-c Oxidase Deficiencies COX1 disease C0268237 GermlineCausalMutation 0.62 disgenet
Cytochrome-c Oxidase Deficiencies PET100 disease C0268237 CausalMutation 0.62 disgenet
Cytochrome-c Oxidase Deficiencies PET100 disease C0268237 Biomarker 0.62 disgenet
Cytochrome-c Oxidase Deficiencies FASTKD2 disease C0268237 GeneticVariation 0.61 disgenet
Cytochrome-c Oxidase Deficiencies FASTKD2 disease C0268237 CausalMutation 0.61 disgenet
Cytochrome-c Oxidase Deficiencies FASTKD2 disease C0268237 Biomarker 0.61 disgenet
Cytochrome-c Oxidase Deficiencies SCO2 disease C0268237 AlteredExpression 0.6 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies TACO1 disease C0268237 Biomarker 0.6 disgenet
Cytochrome-c Oxidase Deficiencies TACO1 disease C0268237 GeneticVariation 0.6 disgenet
Cytochrome-c Oxidase Deficiencies SCO2 disease C0268237 GeneticVariation 0.6 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies SCO2 disease C0268237 Biomarker 0.6 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies TACO1 disease C0268237 CausalMutation 0.6 disgenet
Cytochrome-c Oxidase Deficiencies SURF1 disease C0268237 Biomarker 0.5 disgenet
Cytochrome-c Oxidase Deficiencies SURF1 disease C0268237 CausalMutation 0.5 disgenet
Cytochrome-c Oxidase Deficiencies SURF1 disease C0268237 GeneticVariation 0.5 disgenet
Cytochrome-c Oxidase Deficiencies COA3 disease C0268237 GermlineCausalMutation 0.41 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies COA3 disease C0268237 GeneticVariation 0.41 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies COA3 disease C0268237 CausalMutation 0.41 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies COX3 disease C0268237 CausalMutation 0.4 disgenet
Cytochrome-c Oxidase Deficiencies COX3 disease C0268237 GermlineCausalMutation 0.4 disgenet
Cytochrome-c Oxidase Deficiencies TRNN disease C0268237 Biomarker 0.4 disgenet
Cytochrome-c Oxidase Deficiencies TRNN disease C0268237 CausalMutation 0.4 disgenet
Cytochrome-c Oxidase Deficiencies COX5A disease C0268237 GermlineCausalMutation 0.35 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies COX5A disease C0268237 Biomarker 0.35 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies COX5A disease C0268237 GeneticVariation 0.35 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies MTCO2P12 disease C0268237 Biomarker 0.33 disgenet
Cytochrome-c Oxidase Deficiencies MTCO2P12 disease C0268237 GeneticVariation 0.33 disgenet
Cytochrome-c Oxidase Deficiencies COX15 disease C0268237 GeneticVariation 0.33 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies COX15 disease C0268237 AlteredExpression 0.33 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies COX15 disease C0268237 Biomarker 0.33 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies COA5 disease C0268237 Biomarker 0.32 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies PET117 disease C0268237 GermlineCausalMutation 0.31 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies PET117 disease C0268237 Biomarker 0.31 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies NDUFA4 disease C0268237 Biomarker 0.3 disgenet
Cytochrome-c Oxidase Deficiencies TRNS1 disease C0268237 Biomarker 0.3 disgenet
Cytochrome-c Oxidase Deficiencies TRNL1 disease C0268237 CausalMutation 0.1 disgenet
Cytochrome-c Oxidase Deficiencies HNRNPU disease C0268237 CausalMutation 0.1 disgenet
Cytochrome-c Oxidase Deficiencies KLC1 disease C0268237 CausalMutation 0.1 disgenet
Cytochrome-c Oxidase Deficiencies CPOX disease C0268237 Biomarker 0.04 disgenet
Cytochrome-c Oxidase Deficiencies CPOX disease C0268237 GeneticVariation 0.04 disgenet
Cytochrome-c Oxidase Deficiencies COA6 disease C0268237 Biomarker 0.03 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies COA6 disease C0268237 AlteredExpression 0.03 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies COA6 disease C0268237 GeneticVariation 0.03 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies GAA disease C0268237 AlteredExpression 0.02 disgenet
Cytochrome-c Oxidase Deficiencies GAA disease C0268237 Biomarker 0.02 disgenet
Cytochrome-c Oxidase Deficiencies GFM2 disease C0268237 Biomarker 0.02 disgenet
Cytochrome-c Oxidase Deficiencies LRPPRC disease C0268237 GeneticVariation 0.02 disgenet
Cytochrome-c Oxidase Deficiencies LRPPRC disease C0268237 Biomarker 0.02 disgenet
Cytochrome-c Oxidase Deficiencies COX6A2 disease C0268237 GeneticVariation 0.02 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies COA7 disease C0268237 GeneticVariation 0.02 disgenet
Cytochrome-c Oxidase Deficiencies MRRF disease C0268237 Biomarker 0.02 disgenet
Cytochrome-c Oxidase Deficiencies COX6A2 disease C0268237 Biomarker 0.02 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies PLCE1 disease C0268237 GeneticVariation 0.01 disgenet
Cytochrome-c Oxidase Deficiencies PTGS2 disease C0268237 GeneticVariation 0.01 disgenet
Cytochrome-c Oxidase Deficiencies MRPL44 disease C0268237 AlteredExpression 0.01 disgenet
Cytochrome-c Oxidase Deficiencies SIRT3 disease C0268237 Biomarker 0.01 disgenet
Cytochrome-c Oxidase Deficiencies COX4I1 disease C0268237 Biomarker 0.01 orphanet , disgenet
Cytochrome-c Oxidase Deficiencies GBE1 disease C0268237 Biomarker 0.01 disgenet
Cytochrome-c Oxidase Deficiencies ETHE1 disease C0268237 Biomarker 0.01 disgenet
Cytochrome-c Oxidase Deficiencies OTOA disease C0268237 GeneticVariation 0.01 disgenet
Cytochrome-c Oxidase Deficiencies SIRT1 disease C0268237 AlteredExpression 0.01 disgenet
Cytochrome-c Oxidase Deficiencies SOD1 disease C0268237 GeneticVariation 0.01 disgenet
Cytochrome-c Oxidase Deficiencies COX19 disease C0268237 Biomarker 0.01 disgenet
Cytochrome-c Oxidase Deficiencies PTGS1 disease C0268237 Biomarker 0.01 disgenet
Cytochrome-c Oxidase Deficiencies FARS2 disease C0268237 GeneticVariation 0.01 disgenet
Cytochrome-c Oxidase Deficiencies CHKB disease C0268237 GeneticVariation 0.01 disgenet
Cytochrome-c Oxidase Deficiencies STXBP1 disease C0268237 GeneticVariation 0.01 disgenet
Cytochrome-c Oxidase Deficiencies COX4I2 disease C0268237 Biomarker 0.01 disgenet
Cytochrome-c Oxidase Deficiencies OPA1 disease C0268237 GeneticVariation 0.01 disgenet
Cytochrome-c Oxidase Deficiencies COX7A1 disease C0268237 Biomarker 0.01 disgenet
Cytochrome-c Oxidase Deficiencies PINK1 disease C0268237 Biomarker 0.01 disgenet
Cytochrome-c Oxidase Deficiencies COX18 disease C0268237 GeneticVariation 0.01 disgenet
Cytochrome-c Oxidase Deficiencies UCN disease C0268237 GeneticVariation 0.01 disgenet
Cytochrome-c Oxidase Deficiencies SLC25A20 disease C0268237 Biomarker 0.01 disgenet
Cytochrome-c Oxidase Deficiencies COX17 disease C0268237 Biomarker 0.01 disgenet
Cytochrome-c Oxidase Deficiencies SIRT4 disease C0268237 Biomarker 0.01 disgenet
Cytochrome-c Oxidase Deficiencies COX6A1 disease C0268237 Biomarker 0.01 disgenet
Cytochrome-c Oxidase Deficiencies COX16 disease C0268237 GeneticVariation 0.01 disgenet
Cytochrome-c Oxidase Deficiencies CEP89 disease C0268237 GeneticVariation 0.01 disgenet
Cytochrome-c Oxidase Deficiencies CCS disease C0268237 GeneticVariation 0.01 disgenet
Cytochrome-c Oxidase Deficiencies EHHADH disease C0268237 GeneticVariation 0.01 disgenet
Cytochrome-c Oxidase Deficiencies HADHA disease C0268237 GeneticVariation 0.01 disgenet
Cytochrome-c Oxidase Deficiencies MT-CO1 NA C0268237 NA NA orphanet
Cytochrome-c Oxidase Deficiencies TRMU NA C0268237 NA NA orphanet
Cytochrome-c Oxidase Deficiencies MT-CO2 NA C0268237 NA NA orphanet
Cytochrome-c Oxidase Deficiencies MT-CO3 NA C0268237 NA NA orphanet
Cytochrome-c Oxidase Deficiencies MT-TE NA C0268237 NA NA orphanet
click here to return to the previous page