Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Leigh Disease SURF1 disease C0023264 GeneticVariation 1 orphanet , disgenet
Leigh Disease SURF1 disease C0023264 AlteredExpression 1 orphanet , disgenet
Leigh Disease NDUFS4 disease C0023264 CausalMutation 1 orphanet , disgenet
Leigh Disease SURF1 disease C0023264 CausalMutation 1 orphanet , disgenet
Leigh Disease SURF1 disease C0023264 Biomarker 1 orphanet , disgenet
Leigh Disease NDUFS4 disease C0023264 Biomarker 1 orphanet , disgenet
Leigh Disease NDUFS4 disease C0023264 AlteredExpression 1 orphanet , disgenet
Leigh Disease NDUFS4 disease C0023264 GeneticVariation 1 orphanet , disgenet
Leigh Disease COX15 disease C0023264 GeneticVariation 0.74 orphanet , disgenet
Leigh Disease COX15 disease C0023264 Biomarker 0.74 orphanet , disgenet
Leigh Disease SDHA disease C0023264 Biomarker 0.73 orphanet , disgenet
Leigh Disease SDHA disease C0023264 CausalMutation 0.73 orphanet , disgenet
Leigh Disease SDHA disease C0023264 GeneticVariation 0.73 orphanet , disgenet
Leigh Disease BCS1L disease C0023264 Biomarker 0.7 disgenet
Leigh Disease BCS1L disease C0023264 CausalMutation 0.7 disgenet
Leigh Disease NDUFS3 disease C0023264 GeneticVariation 0.64 orphanet , disgenet
Leigh Disease NDUFS3 disease C0023264 Biomarker 0.64 orphanet , disgenet
Leigh Disease NDUFS8 disease C0023264 Biomarker 0.63 orphanet , disgenet
Leigh Disease NDUFS8 disease C0023264 GeneticVariation 0.63 orphanet , disgenet
Leigh Disease TACO1 disease C0023264 Biomarker 0.61 orphanet , disgenet
Leigh Disease TACO1 disease C0023264 GeneticVariation 0.61 orphanet , disgenet
Leigh Disease COX10 disease C0023264 AlteredExpression 0.61 disgenet
Leigh Disease COX10 disease C0023264 Biomarker 0.61 disgenet
Leigh Disease NDUFS7 disease C0023264 GeneticVariation 0.55 orphanet , disgenet
Leigh Disease NDUFS7 disease C0023264 Biomarker 0.55 orphanet , disgenet
Leigh Disease NDUFS7 disease C0023264 AlteredExpression 0.55 orphanet , disgenet
Leigh Disease SCO2 disease C0023264 GeneticVariation 0.54 orphanet , disgenet
Leigh Disease SCO2 disease C0023264 Biomarker 0.54 orphanet , disgenet
Leigh Disease PET100 disease C0023264 GeneticVariation 0.52 orphanet , disgenet
Leigh Disease PET100 disease C0023264 Biomarker 0.52 orphanet , disgenet
Leigh Disease NDUFA2 disease C0023264 Biomarker 0.52 orphanet , disgenet
Leigh Disease NDUFA2 disease C0023264 GeneticVariation 0.52 orphanet , disgenet
Leigh Disease NDUFS1 disease C0023264 GeneticVariation 0.52 orphanet , disgenet
Leigh Disease NDUFS1 disease C0023264 Biomarker 0.52 orphanet , disgenet
Leigh Disease NDUFA12 disease C0023264 GeneticVariation 0.51 orphanet , disgenet
Leigh Disease NDUFA12 disease C0023264 Biomarker 0.51 orphanet , disgenet
Leigh Disease NDUFA10 disease C0023264 Biomarker 0.51 orphanet , disgenet
Leigh Disease NDUFA10 disease C0023264 GeneticVariation 0.51 orphanet , disgenet
Leigh Disease ATP6 disease C0023264 GeneticVariation 0.5 disgenet
Leigh Disease NDUFA9 disease C0023264 Biomarker 0.5 orphanet , disgenet
Leigh Disease ATP6 disease C0023264 Biomarker 0.5 disgenet
Leigh Disease ATP6 disease C0023264 CausalMutation 0.5 disgenet
Leigh Disease ND3 disease C0023264 Biomarker 0.49 disgenet
Leigh Disease ND3 disease C0023264 CausalMutation 0.49 disgenet
Leigh Disease ND3 disease C0023264 GeneticVariation 0.49 disgenet
Leigh Disease ND6 disease C0023264 CausalMutation 0.47 disgenet
Leigh Disease ND5 disease C0023264 Biomarker 0.47 disgenet
Leigh Disease ND6 disease C0023264 GeneticVariation 0.47 disgenet
Leigh Disease ND5 disease C0023264 GeneticVariation 0.47 disgenet
Leigh Disease ND5 disease C0023264 CausalMutation 0.47 disgenet
Leigh Disease ND6 disease C0023264 Biomarker 0.47 disgenet
Leigh Disease ECHS1 disease C0023264 GeneticVariation 0.44 orphanet , disgenet
Leigh Disease ECHS1 disease C0023264 Biomarker 0.44 orphanet , disgenet
Leigh Disease NDUFAF6 disease C0023264 Biomarker 0.44 orphanet , disgenet
Leigh Disease NDUFAF6 disease C0023264 GeneticVariation 0.44 orphanet , disgenet
Leigh Disease IARS2 disease C0023264 CausalMutation 0.43 disgenet
Leigh Disease IARS2 disease C0023264 GeneticVariation 0.43 disgenet
Leigh Disease IARS2 disease C0023264 Biomarker 0.43 disgenet
Leigh Disease FOXRED1 disease C0023264 CausalMutation 0.42 orphanet , disgenet
Leigh Disease FOXRED1 disease C0023264 PosttranslationalModification 0.42 orphanet , disgenet
Leigh Disease NDUFAF2 disease C0023264 CausalMutation 0.42 orphanet , disgenet
Leigh Disease NDUFAF2 disease C0023264 GeneticVariation 0.42 orphanet , disgenet
Leigh Disease NDUFAF2 disease C0023264 Biomarker 0.42 orphanet , disgenet
Leigh Disease NDUFAF2 disease C0023264 AlteredExpression 0.42 orphanet , disgenet
Leigh Disease FOXRED1 disease C0023264 Biomarker 0.42 orphanet , disgenet
Leigh Disease LRPPRC disease C0023264 GeneticVariation 0.4 disgenet
Leigh Disease LRPPRC disease C0023264 Biomarker 0.4 disgenet
Leigh Disease SLC19A3 disease C0023264 GeneticVariation 0.34 orphanet , disgenet
Leigh Disease SLC19A3 disease C0023264 Biomarker 0.34 orphanet , disgenet
Leigh Disease POLG disease C0023264 GeneticVariation 0.33 disgenet
Leigh Disease NDUFS2 disease C0023264 Biomarker 0.33 orphanet , disgenet
Leigh Disease NDUFV1 disease C0023264 Biomarker 0.33 orphanet , disgenet
Leigh Disease NDUFV1 disease C0023264 GeneticVariation 0.33 orphanet , disgenet
Leigh Disease NDUFS2 disease C0023264 GeneticVariation 0.33 orphanet , disgenet
Leigh Disease NDUFA1 disease C0023264 GeneticVariation 0.32 disgenet
Leigh Disease DLD disease C0023264 Biomarker 0.32 disgenet
Leigh Disease NDUFA1 disease C0023264 Biomarker 0.32 disgenet
Leigh Disease DLD disease C0023264 GeneticVariation 0.32 disgenet
Leigh Disease PTCD3 disease C0023264 GeneticVariation 0.31 disgenet
Leigh Disease PTCD3 disease C0023264 Biomarker 0.31 disgenet
Leigh Disease GFM2 disease C0023264 GeneticVariation 0.31 disgenet
Leigh Disease GFM1 disease C0023264 Biomarker 0.31 disgenet
Leigh Disease GFM1 disease C0023264 GeneticVariation 0.31 disgenet
Leigh Disease NARS2 disease C0023264 Biomarker 0.31 disgenet
Leigh Disease PDSS2 disease C0023264 GeneticVariation 0.31 orphanet , disgenet
Leigh Disease GFM2 disease C0023264 Biomarker 0.31 disgenet
Leigh Disease PDHA1 disease C0023264 Biomarker 0.31 orphanet , disgenet
Leigh Disease NDUFV2 disease C0023264 Biomarker 0.31 orphanet , disgenet
Leigh Disease NDUFV2 disease C0023264 GeneticVariation 0.31 orphanet , disgenet
Leigh Disease PDSS2 disease C0023264 Biomarker 0.31 orphanet , disgenet
Leigh Disease PDHA1 disease C0023264 GeneticVariation 0.31 orphanet , disgenet
Leigh Disease TTC19 disease C0023264 Biomarker 0.3 disgenet
Leigh Disease ETHE1 disease C0023264 Biomarker 0.3 disgenet
Leigh Disease UQCRQ disease C0023264 Biomarker 0.3 disgenet
Leigh Disease FARS2 disease C0023264 Biomarker 0.3 disgenet
Leigh Disease SUCLA2 disease C0023264 Biomarker 0.3 disgenet
Leigh Disease PET117 disease C0023264 Biomarker 0.3 disgenet
Leigh Disease SUCLG1 disease C0023264 Biomarker 0.3 disgenet
Leigh Disease SOD2 disease C0023264 Biomarker 0.21 disgenet
Leigh Disease SOD2 disease C0023264 AlteredExpression 0.21 disgenet
Leigh Disease PARL disease C0023264 Biomarker 0.2 disgenet
Leigh Disease ND4 disease C0023264 GeneticVariation 0.15 disgenet
Leigh Disease ND4 disease C0023264 CausalMutation 0.15 disgenet
Leigh Disease MTFMT disease C0023264 CausalMutation 0.14 orphanet , disgenet
Leigh Disease MTFMT disease C0023264 GeneticVariation 0.14 orphanet , disgenet
Leigh Disease ND1 disease C0023264 GeneticVariation 0.13 disgenet
Leigh Disease ND1 disease C0023264 CausalMutation 0.13 disgenet
Leigh Disease COX3 disease C0023264 GeneticVariation 0.12 disgenet
Leigh Disease TRNW disease C0023264 GeneticVariation 0.12 disgenet
Leigh Disease COX3 disease C0023264 CausalMutation 0.12 disgenet
Leigh Disease TRNW disease C0023264 CausalMutation 0.12 disgenet
Leigh Disease ND2 disease C0023264 GeneticVariation 0.11 disgenet
Leigh Disease MRPS34 disease C0023264 CausalMutation 0.11 disgenet
Leigh Disease ND2 disease C0023264 CausalMutation 0.11 disgenet
Leigh Disease MRPS34 disease C0023264 GeneticVariation 0.11 disgenet
Leigh Disease TRNV disease C0023264 CausalMutation 0.1 disgenet
Leigh Disease CYTB disease C0023264 CausalMutation 0.1 disgenet
Leigh Disease TRNK disease C0023264 CausalMutation 0.1 disgenet
Leigh Disease CUTC disease C0023264 GeneticVariation 0.1 disgenet
Leigh Disease TRNL1 disease C0023264 CausalMutation 0.1 disgenet
Leigh Disease EME2 disease C0023264 GeneticVariation 0.1 disgenet
Leigh Disease ATP5F1E disease C0023264 GeneticVariation 0.07 disgenet
Leigh Disease COX5A disease C0023264 GeneticVariation 0.05 disgenet
Leigh Disease COX8A disease C0023264 Biomarker 0.05 disgenet
Leigh Disease CPOX disease C0023264 GeneticVariation 0.05 disgenet
Leigh Disease CPOX disease C0023264 Biomarker 0.05 disgenet
Leigh Disease COX8A disease C0023264 GeneticVariation 0.05 disgenet
Leigh Disease COX5A disease C0023264 AlteredExpression 0.05 disgenet
Leigh Disease PTPN11 disease C0023264 Biomarker 0.05 disgenet
Leigh Disease CPOX disease C0023264 AlteredExpression 0.05 disgenet
Leigh Disease COX8A disease C0023264 AlteredExpression 0.05 disgenet
Leigh Disease COX5A disease C0023264 Biomarker 0.05 disgenet
Leigh Disease PTPN11 disease C0023264 GeneticVariation 0.05 disgenet
Leigh Disease NPTX2 disease C0023264 GeneticVariation 0.05 disgenet
Leigh Disease NPTX2 disease C0023264 Biomarker 0.05 disgenet
Leigh Disease TFPI disease C0023264 Biomarker 0.03 disgenet
Leigh Disease TBPL1 disease C0023264 GeneticVariation 0.03 disgenet
Leigh Disease PDP1 disease C0023264 Biomarker 0.03 disgenet
Leigh Disease SLC25A46 disease C0023264 GeneticVariation 0.03 disgenet
Leigh Disease TFPI disease C0023264 GeneticVariation 0.03 disgenet
Leigh Disease TYRP1 disease C0023264 GeneticVariation 0.03 disgenet
Leigh Disease PDP1 disease C0023264 GeneticVariation 0.03 disgenet
Leigh Disease HIBCH disease C0023264 Biomarker 0.03 disgenet
Leigh Disease HIBCH disease C0023264 GeneticVariation 0.03 disgenet
Leigh Disease PDHX disease C0023264 GeneticVariation 0.03 disgenet
Leigh Disease C12orf65 disease C0023264 GeneticVariation 0.02 disgenet
Leigh Disease SDHAF1 disease C0023264 GeneticVariation 0.02 disgenet
Leigh Disease COX1 disease C0023264 AlteredExpression 0.02 disgenet
Leigh Disease ATP8 disease C0023264 Biomarker 0.02 disgenet
Leigh Disease VTN disease C0023264 Biomarker 0.02 disgenet
Leigh Disease NDUFAF5 disease C0023264 GeneticVariation 0.02 orphanet , disgenet
Leigh Disease CDSN disease C0023264 Biomarker 0.02 disgenet
Leigh Disease VTN disease C0023264 GeneticVariation 0.02 disgenet
Leigh Disease COX1 disease C0023264 GeneticVariation 0.02 disgenet
Leigh Disease CDSN disease C0023264 GeneticVariation 0.02 disgenet
Leigh Disease MSH6 disease C0023264 GeneticVariation 0.01 disgenet
Leigh Disease PANK2 disease C0023264 GeneticVariation 0.01 disgenet
Leigh Disease TXNRD1 disease C0023264 Biomarker 0.01 disgenet
Leigh Disease ATP5PF disease C0023264 GeneticVariation 0.01 disgenet
Leigh Disease MRC1 disease C0023264 GeneticVariation 0.01 disgenet
Leigh Disease OGDH disease C0023264 Biomarker 0.01 disgenet
Leigh Disease MTO1 disease C0023264 GeneticVariation 0.01 disgenet
Leigh Disease NDUFS6 disease C0023264 GeneticVariation 0.01 disgenet
Leigh Disease PDHB disease C0023264 GeneticVariation 0.01 disgenet
Leigh Disease SLC25A19 disease C0023264 Biomarker 0.01 disgenet
Leigh Disease KITLG disease C0023264 Biomarker 0.01 disgenet
Leigh Disease NDUFA5 disease C0023264 GeneticVariation 0.01 disgenet
Leigh Disease FARP2 disease C0023264 Biomarker 0.01 disgenet
Leigh Disease KIDINS220 disease C0023264 Biomarker 0.01 disgenet
Leigh Disease NDUFAF3 disease C0023264 GeneticVariation 0.01 orphanet , disgenet
Leigh Disease TRMU disease C0023264 GeneticVariation 0.01 disgenet
Leigh Disease LAMA2 disease C0023264 Biomarker 0.01 disgenet
Leigh Disease TYMP disease C0023264 Biomarker 0.01 disgenet
Leigh Disease PNPT1 disease C0023264 GeneticVariation 0.01 disgenet
Leigh Disease MTOR disease C0023264 Biomarker 0.01 disgenet
Leigh Disease TIMMDC1 disease C0023264 GeneticVariation 0.01 disgenet
Leigh Disease SDHB disease C0023264 GeneticVariation 0.01 disgenet
Leigh Disease EDN1 disease C0023264 AlteredExpression 0.01 disgenet
Leigh Disease ABCA4 disease C0023264 Biomarker 0.01 disgenet
Leigh Disease ATP5MD disease C0023264 AlteredExpression 0.01 disgenet
Leigh Disease NDUFAF4 disease C0023264 GeneticVariation 0.01 disgenet
Leigh Disease TNF disease C0023264 AlteredExpression 0.01 disgenet
Leigh Disease GTPBP3 disease C0023264 GeneticVariation 0.01 disgenet
Leigh Disease SRSF2 disease C0023264 GeneticVariation 0.01 disgenet
Leigh Disease TKT disease C0023264 AlteredExpression 0.01 disgenet
Leigh Disease WLS disease C0023264 GeneticVariation 0.01 disgenet
Leigh Disease FXN disease C0023264 Biomarker 0.01 disgenet
Leigh Disease TSFM disease C0023264 GeneticVariation 0.01 disgenet
Leigh Disease ADAR disease C0023264 GeneticVariation 0.01 disgenet
Leigh Disease EMC3 disease C0023264 Biomarker 0.01 disgenet
Leigh Disease LIAS disease C0023264 GeneticVariation 0.01 disgenet
Leigh Disease URI1 disease C0023264 Biomarker 0.01 disgenet
Leigh Disease TPK1 disease C0023264 Biomarker 0.01 disgenet
Leigh Disease MARCKSL1 disease C0023264 GeneticVariation 0.01 disgenet
Leigh Disease COQ8A disease C0023264 GeneticVariation 0.01 disgenet
Leigh Disease PMS2 disease C0023264 Biomarker 0.01 disgenet
Leigh Disease ATN1 disease C0023264 Biomarker 0.01 disgenet
Leigh Disease GHR disease C0023264 Biomarker 0.01 disgenet
Leigh Disease HSD17B6 disease C0023264 Biomarker 0.01 disgenet
Leigh Disease COX4I1 disease C0023264 GeneticVariation 0.01 disgenet
Leigh Disease C19orf12 disease C0023264 GeneticVariation 0.01 disgenet
Leigh Disease COQ4 disease C0023264 GeneticVariation 0.01 disgenet
Leigh Disease GNA12 disease C0023264 Biomarker 0.01 disgenet
Leigh Disease GYG2 disease C0023264 GeneticVariation 0.01 disgenet
Leigh Disease GH1 disease C0023264 Biomarker 0.01 disgenet
Leigh Disease RNR2 disease C0023264 GeneticVariation 0.01 disgenet
Leigh Disease NF1 disease C0023264 GeneticVariation 0.01 disgenet
Leigh Disease LINC01672 disease C0023264 Biomarker 0.01 disgenet
Leigh Disease ABCC1 disease C0023264 GeneticVariation 0.01 disgenet
Leigh Disease ATP11A disease C0023264 GeneticVariation 0.01 disgenet
Leigh Disease RPS6KB1 disease C0023264 Biomarker 0.01 disgenet
Leigh Disease CRAT disease C0023264 GeneticVariation 0.01 disgenet
Leigh Disease LIPT1 disease C0023264 GeneticVariation 0.01 orphanet , disgenet
Leigh Disease RANBP2 disease C0023264 Biomarker 0.01 disgenet
Leigh Disease SLC39A8 disease C0023264 GeneticVariation 0.01 disgenet
Leigh Disease MSH2 disease C0023264 Biomarker 0.01 disgenet
Leigh Disease PGD disease C0023264 GeneticVariation 0.01 disgenet
Leigh Disease MT-ND1 NA C0023264 NA NA orphanet
Leigh Disease MT-ATP6 NA C0023264 NA NA orphanet
Leigh Disease COQ2 NA C0023264 NA NA orphanet
Leigh Disease MT-ND4 NA C0023264 NA NA orphanet
Leigh Disease MT-TV NA C0023264 NA NA orphanet
Leigh Disease MT-ND5 NA C0023264 NA NA orphanet
Leigh Disease MT-TK NA C0023264 NA NA orphanet
Leigh Disease MT-ND2 NA C0023264 NA NA orphanet
Leigh Disease NDUFA4 NA C0023264 NA NA orphanet
Leigh Disease MT-TL1 NA C0023264 NA NA orphanet
Leigh Disease NDUFB8 NA C0023264 NA NA orphanet
Leigh Disease NDUFA13 NA C0023264 NA NA orphanet
Leigh Disease MT-TW NA C0023264 NA NA orphanet
Leigh Disease MT-ND6 NA C0023264 NA NA orphanet
Leigh Disease MT-ND3 NA C0023264 NA NA orphanet
click here to return to the previous page