Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Optic Atrophy, Hereditary, Leber ND6 disease C0917796 GeneticVariation 0.9 disgenet
Optic Atrophy, Hereditary, Leber ND6 disease C0917796 CausalMutation 0.9 disgenet
Optic Atrophy, Hereditary, Leber ND6 disease C0917796 Biomarker 0.9 disgenet
Optic Atrophy, Hereditary, Leber ND4 disease C0917796 CausalMutation 0.7 disgenet
Optic Atrophy, Hereditary, Leber ND4 disease C0917796 Biomarker 0.7 disgenet
Optic Atrophy, Hereditary, Leber ND1 disease C0917796 GeneticVariation 0.7 disgenet
Optic Atrophy, Hereditary, Leber ND1 disease C0917796 Biomarker 0.7 disgenet
Optic Atrophy, Hereditary, Leber ND1 disease C0917796 CausalMutation 0.7 disgenet
Optic Atrophy, Hereditary, Leber ND4 disease C0917796 GeneticVariation 0.7 disgenet
Optic Atrophy, Hereditary, Leber ND5 disease C0917796 AlteredExpression 0.68 disgenet
Optic Atrophy, Hereditary, Leber ND5 disease C0917796 CausalMutation 0.68 disgenet
Optic Atrophy, Hereditary, Leber ND5 disease C0917796 GeneticVariation 0.68 disgenet
Optic Atrophy, Hereditary, Leber ND5 disease C0917796 Biomarker 0.68 disgenet
Optic Atrophy, Hereditary, Leber ATP6 disease C0917796 GeneticVariation 0.65 disgenet
Optic Atrophy, Hereditary, Leber ND4L disease C0917796 CausalMutation 0.65 disgenet
Optic Atrophy, Hereditary, Leber ND4L disease C0917796 Biomarker 0.65 disgenet
Optic Atrophy, Hereditary, Leber ATP6 disease C0917796 Biomarker 0.65 disgenet
Optic Atrophy, Hereditary, Leber ND4L disease C0917796 GeneticVariation 0.65 disgenet
Optic Atrophy, Hereditary, Leber CYTB disease C0917796 GeneticVariation 0.64 disgenet
Optic Atrophy, Hereditary, Leber CYTB disease C0917796 Biomarker 0.64 disgenet
Optic Atrophy, Hereditary, Leber CYTB disease C0917796 AlteredExpression 0.64 disgenet
Optic Atrophy, Hereditary, Leber COX3 disease C0917796 CausalMutation 0.61 disgenet
Optic Atrophy, Hereditary, Leber COX3 disease C0917796 Biomarker 0.61 disgenet
Optic Atrophy, Hereditary, Leber COX3 disease C0917796 GeneticVariation 0.61 disgenet
Optic Atrophy, Hereditary, Leber ND2 disease C0917796 CausalMutation 0.6 disgenet
Optic Atrophy, Hereditary, Leber ND2 disease C0917796 GeneticVariation 0.6 disgenet
Optic Atrophy, Hereditary, Leber ND2 disease C0917796 Biomarker 0.6 disgenet
Optic Atrophy, Hereditary, Leber RPE65 disease C0917796 Biomarker 0.52 disgenet
Optic Atrophy, Hereditary, Leber NDUFS2 disease C0917796 CausalMutation 0.4 orphanet , disgenet
Optic Atrophy, Hereditary, Leber NDUFS2 disease C0917796 GermlineCausalMutation 0.4 orphanet , disgenet
Optic Atrophy, Hereditary, Leber LRAT disease C0917796 Biomarker 0.3 disgenet
Optic Atrophy, Hereditary, Leber COX1 disease C0917796 GeneticVariation 0.3 disgenet
Optic Atrophy, Hereditary, Leber IL1A disease C0917796 Biomarker 0.3 disgenet
Optic Atrophy, Hereditary, Leber IL1B disease C0917796 Biomarker 0.3 disgenet
Optic Atrophy, Hereditary, Leber OPA1 disease C0917796 Biomarker 0.1 disgenet
Optic Atrophy, Hereditary, Leber OPA1 disease C0917796 GeneticVariation 0.1 disgenet
Optic Atrophy, Hereditary, Leber CPLX1 disease C0917796 Biomarker 0.1 disgenet
Optic Atrophy, Hereditary, Leber OPA1 disease C0917796 AlteredExpression 0.1 disgenet
Optic Atrophy, Hereditary, Leber TBC1D24 disease C0917796 Biomarker 0.1 disgenet
Optic Atrophy, Hereditary, Leber CEP290 disease C0917796 Biomarker 0.03 disgenet
Optic Atrophy, Hereditary, Leber PARL disease C0917796 GeneticVariation 0.03 disgenet
Optic Atrophy, Hereditary, Leber NDUFA1 disease C0917796 GeneticVariation 0.03 disgenet
Optic Atrophy, Hereditary, Leber OPA3 disease C0917796 GeneticVariation 0.03 disgenet
Optic Atrophy, Hereditary, Leber MFN2 disease C0917796 GeneticVariation 0.02 disgenet
Optic Atrophy, Hereditary, Leber SOD2 disease C0917796 Biomarker 0.02 disgenet
Optic Atrophy, Hereditary, Leber FXN disease C0917796 Biomarker 0.02 disgenet
Optic Atrophy, Hereditary, Leber FXN disease C0917796 GeneticVariation 0.02 disgenet
Optic Atrophy, Hereditary, Leber PLXNA2 disease C0917796 Biomarker 0.02 disgenet
Optic Atrophy, Hereditary, Leber MFN2 disease C0917796 Biomarker 0.02 disgenet
Optic Atrophy, Hereditary, Leber CRYZ disease C0917796 Biomarker 0.02 disgenet
Optic Atrophy, Hereditary, Leber NPTX2 disease C0917796 GeneticVariation 0.02 disgenet
Optic Atrophy, Hereditary, Leber CRYZ disease C0917796 GeneticVariation 0.02 disgenet
Optic Atrophy, Hereditary, Leber ABCA4 disease C0917796 Biomarker 0.01 disgenet
Optic Atrophy, Hereditary, Leber BNIP3 disease C0917796 AlteredExpression 0.01 disgenet
Optic Atrophy, Hereditary, Leber MAS1 disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber AR disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber OPTN disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber GRIA1 disease C0917796 Biomarker 0.01 disgenet
Optic Atrophy, Hereditary, Leber ACTB disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber COX5A disease C0917796 Biomarker 0.01 disgenet
Optic Atrophy, Hereditary, Leber AMD1 disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber CASP3 disease C0917796 AlteredExpression 0.01 disgenet
Optic Atrophy, Hereditary, Leber GGT1 disease C0917796 AlteredExpression 0.01 disgenet
Optic Atrophy, Hereditary, Leber AKR1B1 disease C0917796 AlteredExpression 0.01 disgenet
Optic Atrophy, Hereditary, Leber COX2 disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber ACE disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber KIF1B disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber NDUFB11 disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber GSR disease C0917796 Biomarker 0.01 disgenet
Optic Atrophy, Hereditary, Leber TRNC disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber CAT disease C0917796 AlteredExpression 0.01 disgenet
Optic Atrophy, Hereditary, Leber PGD disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber GGTLC4P disease C0917796 AlteredExpression 0.01 disgenet
Optic Atrophy, Hereditary, Leber GRM2 disease C0917796 Biomarker 0.01 disgenet
Optic Atrophy, Hereditary, Leber HLA-A disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber BNIP3L disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber ENDOG disease C0917796 Biomarker 0.01 disgenet
Optic Atrophy, Hereditary, Leber RNR2 disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber RP2 disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber SPG7 disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber TACSTD2 disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber GMCL1 disease C0917796 Biomarker 0.01 disgenet
Optic Atrophy, Hereditary, Leber GCA disease C0917796 Biomarker 0.01 disgenet
Optic Atrophy, Hereditary, Leber POTEF disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber KRT10 disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber ENO2 disease C0917796 Biomarker 0.01 disgenet
Optic Atrophy, Hereditary, Leber TIMM8A disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber CPOX disease C0917796 Biomarker 0.01 disgenet
Optic Atrophy, Hereditary, Leber SERPINA1 disease C0917796 AlteredExpression 0.01 disgenet
Optic Atrophy, Hereditary, Leber YARS2 disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber GLIS3 disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber TFPI disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber MTHFR disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber IMMT disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber ERG disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber GGT2 disease C0917796 AlteredExpression 0.01 disgenet
Optic Atrophy, Hereditary, Leber RNR1 disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber HLA-B disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber TRNF disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber GGTLC5P disease C0917796 AlteredExpression 0.01 disgenet
Optic Atrophy, Hereditary, Leber POLG disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber GCLC disease C0917796 Biomarker 0.01 disgenet
Optic Atrophy, Hereditary, Leber EPHX1 disease C0917796 Biomarker 0.01 disgenet
Optic Atrophy, Hereditary, Leber RPGRIP1 disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber TAP2 disease C0917796 AlteredExpression 0.01 disgenet
Optic Atrophy, Hereditary, Leber ADI1 disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber PHLDA2 disease C0917796 Biomarker 0.01 disgenet
Optic Atrophy, Hereditary, Leber AQP4 disease C0917796 Biomarker 0.01 disgenet
Optic Atrophy, Hereditary, Leber TP53 disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber TFAM disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber TWNK disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber EPHX1 disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber SLC26A5 disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber TRNK disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber TK2 disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber AMD1P2 disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber GRIA2 disease C0917796 Biomarker 0.01 disgenet
Optic Atrophy, Hereditary, Leber GGTLC3 disease C0917796 AlteredExpression 0.01 disgenet
Optic Atrophy, Hereditary, Leber GMCL2 disease C0917796 Biomarker 0.01 disgenet
Optic Atrophy, Hereditary, Leber COX8A disease C0917796 Biomarker 0.01 disgenet
Optic Atrophy, Hereditary, Leber RPGR disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber AIPL1 disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber SCN1A disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber ESR2 disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber MAPT disease C0917796 GeneticVariation 0.01 disgenet
Optic Atrophy, Hereditary, Leber MT-ND6 NA C0917796 NA NA orphanet
Optic Atrophy, Hereditary, Leber MT-ND5 NA C0917796 NA NA orphanet
Optic Atrophy, Hereditary, Leber MT-CYB NA C0917796 NA NA orphanet
Optic Atrophy, Hereditary, Leber MT-ND4 NA C0917796 NA NA orphanet
Optic Atrophy, Hereditary, Leber DNAJC30 NA C0917796 NA NA orphanet
Optic Atrophy, Hereditary, Leber MT-ATP6 NA C0917796 NA NA orphanet
Optic Atrophy, Hereditary, Leber MT-ND2 NA C0917796 NA NA orphanet
Optic Atrophy, Hereditary, Leber MT-CO3 NA C0917796 NA NA orphanet
Optic Atrophy, Hereditary, Leber MT-ND4L NA C0917796 NA NA orphanet
Optic Atrophy, Hereditary, Leber MT-CO1 NA C0917796 NA NA orphanet
Optic Atrophy, Hereditary, Leber MT-ND3 NA C0917796 NA NA orphanet
Optic Atrophy, Hereditary, Leber MT-ND1 NA C0917796 NA NA orphanet
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