Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Disease, Machado-Joseph ATXN3 disease C0024408 PosttranslationalModification 0.7 orphanet , disgenet
Disease, Machado-Joseph ATXN3 disease C0024408 CausalMutation 0.7 orphanet , disgenet
Disease, Machado-Joseph ATXN3 disease C0024408 GeneticVariation 0.7 orphanet , disgenet
Disease, Machado-Joseph ATXN3 disease C0024408 Biomarker 0.7 orphanet , disgenet
Disease, Machado-Joseph ATXN3 disease C0024408 AlteredExpression 0.7 orphanet , disgenet
Disease, Machado-Joseph SLC18A2 disease C0024408 Biomarker 0.21 disgenet
Disease, Machado-Joseph SLC18A2 disease C0024408 GeneticVariation 0.21 disgenet
Disease, Machado-Joseph TH disease C0024408 Biomarker 0.2 disgenet
Disease, Machado-Joseph CACNA1A disease C0024408 GeneticVariation 0.1 disgenet
Disease, Machado-Joseph LY6E disease C0024408 GeneticVariation 0.1 disgenet
Disease, Machado-Joseph LY6E disease C0024408 Biomarker 0.1 disgenet
Disease, Machado-Joseph ATXN2 disease C0024408 AlteredExpression 0.1 disgenet
Disease, Machado-Joseph CACNA1A disease C0024408 Biomarker 0.1 disgenet
Disease, Machado-Joseph ATXN2 disease C0024408 GeneticVariation 0.1 disgenet
Disease, Machado-Joseph ATXN2 disease C0024408 Biomarker 0.1 disgenet
Disease, Machado-Joseph ATXN1 disease C0024408 Biomarker 0.1 disgenet
Disease, Machado-Joseph ATXN1 disease C0024408 GeneticVariation 0.1 disgenet
Disease, Machado-Joseph ATXN1 disease C0024408 AlteredExpression 0.1 disgenet
Disease, Machado-Joseph HTT disease C0024408 AlteredExpression 0.06 disgenet
Disease, Machado-Joseph HTT disease C0024408 Biomarker 0.06 disgenet
Disease, Machado-Joseph HTT disease C0024408 GeneticVariation 0.06 disgenet
Disease, Machado-Joseph ATXN7 disease C0024408 Biomarker 0.06 disgenet
Disease, Machado-Joseph ATXN7 disease C0024408 GeneticVariation 0.06 disgenet
Disease, Machado-Joseph FXN disease C0024408 Biomarker 0.05 disgenet
Disease, Machado-Joseph FXN disease C0024408 GeneticVariation 0.05 disgenet
Disease, Machado-Joseph BECN1 disease C0024408 Biomarker 0.05 disgenet
Disease, Machado-Joseph BECN1 disease C0024408 AlteredExpression 0.05 disgenet
Disease, Machado-Joseph APOE disease C0024408 Biomarker 0.04 disgenet
Disease, Machado-Joseph APOE disease C0024408 GeneticVariation 0.04 disgenet
Disease, Machado-Joseph VCP disease C0024408 Biomarker 0.04 disgenet
Disease, Machado-Joseph DNAJB1 disease C0024408 Biomarker 0.03 disgenet
Disease, Machado-Joseph ATN1 disease C0024408 Biomarker 0.03 disgenet
Disease, Machado-Joseph AR disease C0024408 GeneticVariation 0.03 disgenet
Disease, Machado-Joseph ATN1 disease C0024408 AlteredExpression 0.03 disgenet
Disease, Machado-Joseph AR disease C0024408 Biomarker 0.03 disgenet
Disease, Machado-Joseph ATN1 disease C0024408 GeneticVariation 0.03 disgenet
Disease, Machado-Joseph TP53 disease C0024408 Biomarker 0.03 disgenet
Disease, Machado-Joseph TBP disease C0024408 AlteredExpression 0.02 disgenet
Disease, Machado-Joseph TBP disease C0024408 Biomarker 0.02 disgenet
Disease, Machado-Joseph PNKP disease C0024408 PosttranslationalModification 0.02 disgenet
Disease, Machado-Joseph TPO disease C0024408 Biomarker 0.02 disgenet
Disease, Machado-Joseph HSPB2 disease C0024408 Biomarker 0.02 disgenet
Disease, Machado-Joseph HSPB2 disease C0024408 AlteredExpression 0.02 disgenet
Disease, Machado-Joseph PNKP disease C0024408 GeneticVariation 0.02 disgenet
Disease, Machado-Joseph TK2 disease C0024408 Biomarker 0.02 disgenet
Disease, Machado-Joseph NFE2L2 disease C0024408 Biomarker 0.02 disgenet
Disease, Machado-Joseph GFAP disease C0024408 AlteredExpression 0.02 disgenet
Disease, Machado-Joseph TPO disease C0024408 GeneticVariation 0.02 disgenet
Disease, Machado-Joseph SOD1 disease C0024408 Biomarker 0.02 disgenet
Disease, Machado-Joseph BEAN1 disease C0024408 Biomarker 0.02 disgenet
Disease, Machado-Joseph HSPB3 disease C0024408 AlteredExpression 0.02 disgenet
Disease, Machado-Joseph SLC6A3 disease C0024408 Biomarker 0.02 disgenet
Disease, Machado-Joseph CA8 disease C0024408 Biomarker 0.02 disgenet
Disease, Machado-Joseph CAST disease C0024408 Biomarker 0.02 disgenet
Disease, Machado-Joseph DNAJB1P1 disease C0024408 Biomarker 0.02 disgenet
Disease, Machado-Joseph SNCA disease C0024408 Biomarker 0.02 disgenet
Disease, Machado-Joseph ATXN8OS disease C0024408 GeneticVariation 0.02 disgenet
Disease, Machado-Joseph FUS disease C0024408 Biomarker 0.02 disgenet
Disease, Machado-Joseph CUL1 disease C0024408 AlteredExpression 0.02 disgenet
Disease, Machado-Joseph IL1RN disease C0024408 AlteredExpression 0.02 disgenet
Disease, Machado-Joseph HSPB1 disease C0024408 AlteredExpression 0.02 disgenet
Disease, Machado-Joseph HSPB3 disease C0024408 Biomarker 0.02 disgenet
Disease, Machado-Joseph HSPB1 disease C0024408 Biomarker 0.02 disgenet
Disease, Machado-Joseph TTR disease C0024408 GeneticVariation 0.02 disgenet
Disease, Machado-Joseph RORA disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph TDO2 disease C0024408 AlteredExpression 0.01 disgenet
Disease, Machado-Joseph ATG12 disease C0024408 AlteredExpression 0.01 disgenet
Disease, Machado-Joseph LAMP2 disease C0024408 AlteredExpression 0.01 disgenet
Disease, Machado-Joseph TWNK disease C0024408 GeneticVariation 0.01 disgenet
Disease, Machado-Joseph NEFL disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph SNAP29 disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph TAF4 disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph RAB1A disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph UBB disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph EFNA3 disease C0024408 AlteredExpression 0.01 disgenet
Disease, Machado-Joseph UBQLN2 disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph CA11 disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph GABPA disease C0024408 AlteredExpression 0.01 disgenet
Disease, Machado-Joseph EIF4G2 disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph PDYN disease C0024408 GeneticVariation 0.01 disgenet
Disease, Machado-Joseph MIR543 disease C0024408 AlteredExpression 0.01 disgenet
Disease, Machado-Joseph IGFALS disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph RMDN2 disease C0024408 AlteredExpression 0.01 disgenet
Disease, Machado-Joseph KITLG disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph PPP1R1B disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph PSMD2 disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph PDIK1L disease C0024408 PosttranslationalModification 0.01 disgenet
Disease, Machado-Joseph TMC3 disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph RPPH1 disease C0024408 AlteredExpression 0.01 disgenet
Disease, Machado-Joseph POU2F2 disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph BAX disease C0024408 AlteredExpression 0.01 disgenet
Disease, Machado-Joseph MSC disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph DMPK disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph BBC3 disease C0024408 AlteredExpression 0.01 disgenet
Disease, Machado-Joseph ELAVL3 disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph CST3 disease C0024408 AlteredExpression 0.01 disgenet
Disease, Machado-Joseph CREBBP disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph AVP disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph CDK5 disease C0024408 AlteredExpression 0.01 disgenet
Disease, Machado-Joseph SLC2A1 disease C0024408 GeneticVariation 0.01 disgenet
Disease, Machado-Joseph DNMT3A disease C0024408 GeneticVariation 0.01 disgenet
Disease, Machado-Joseph IL6 disease C0024408 AlteredExpression 0.01 disgenet
Disease, Machado-Joseph SERPINA3 disease C0024408 GeneticVariation 0.01 disgenet
Disease, Machado-Joseph RMDN1 disease C0024408 AlteredExpression 0.01 disgenet
Disease, Machado-Joseph HSP90B2P disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph MIR494 disease C0024408 AlteredExpression 0.01 disgenet
Disease, Machado-Joseph FBXW7 disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph PLA2G1B disease C0024408 GeneticVariation 0.01 disgenet
Disease, Machado-Joseph CFDP1 disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph RANGAP1 disease C0024408 GeneticVariation 0.01 disgenet
Disease, Machado-Joseph MIR370 disease C0024408 AlteredExpression 0.01 disgenet
Disease, Machado-Joseph TNF disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph GABARAP disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph HSP90AA1 disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph SYBU disease C0024408 AlteredExpression 0.01 disgenet
Disease, Machado-Joseph PLA2G2A disease C0024408 GeneticVariation 0.01 disgenet
Disease, Machado-Joseph SPTBN2 disease C0024408 GeneticVariation 0.01 disgenet
Disease, Machado-Joseph TSHZ1 disease C0024408 GeneticVariation 0.01 disgenet
Disease, Machado-Joseph ATG16L2 disease C0024408 AlteredExpression 0.01 disgenet
Disease, Machado-Joseph PTPN13 disease C0024408 GeneticVariation 0.01 disgenet
Disease, Machado-Joseph ASIC1 disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph GSTM2 disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph AICDA disease C0024408 GeneticVariation 0.01 disgenet
Disease, Machado-Joseph ATXN10 disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph ZUP1 disease C0024408 GeneticVariation 0.01 disgenet
Disease, Machado-Joseph HSPBP1 disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph OPTN disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph CTRL disease C0024408 AlteredExpression 0.01 disgenet
Disease, Machado-Joseph PLA2G6 disease C0024408 GeneticVariation 0.01 disgenet
Disease, Machado-Joseph PICK1 disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph IRF1 disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph MSI1 disease C0024408 AlteredExpression 0.01 disgenet
Disease, Machado-Joseph IVL disease C0024408 GeneticVariation 0.01 disgenet
Disease, Machado-Joseph HSPA4 disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph FOXO4 disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph ATM disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph MMP2 disease C0024408 AlteredExpression 0.01 disgenet
Disease, Machado-Joseph ND4 disease C0024408 AlteredExpression 0.01 disgenet
Disease, Machado-Joseph KPNA3 disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph SLC22A2 disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph ACY3 disease C0024408 AlteredExpression 0.01 disgenet
Disease, Machado-Joseph TNFRSF13C disease C0024408 AlteredExpression 0.01 disgenet
Disease, Machado-Joseph NPY disease C0024408 AlteredExpression 0.01 disgenet
Disease, Machado-Joseph HMBS disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph GEMIN4 disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph FBXO33 disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph SOD2 disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph HCRT disease C0024408 AlteredExpression 0.01 disgenet
Disease, Machado-Joseph RMDN3 disease C0024408 AlteredExpression 0.01 disgenet
Disease, Machado-Joseph FLVCR1 disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph TARDBP disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph CREB1 disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph ND1 disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph PLEKHG4 disease C0024408 GeneticVariation 0.01 disgenet
Disease, Machado-Joseph SKP1 disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph HSPB8 disease C0024408 GeneticVariation 0.01 disgenet
Disease, Machado-Joseph PAH disease C0024408 GeneticVariation 0.01 disgenet
Disease, Machado-Joseph TOR1A disease C0024408 GeneticVariation 0.01 disgenet
Disease, Machado-Joseph ARSB disease C0024408 Biomarker 0.01 disgenet
Disease, Machado-Joseph DNMT3L disease C0024408 GeneticVariation 0.01 disgenet
Disease, Machado-Joseph ACP1 disease C0024408 GeneticVariation 0.01 disgenet
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