Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Ataxias, Gait ATXN7 phenotype C0751837 Biomarker 0.3 disgenet
Ataxias, Gait FMR1 phenotype C0751837 GeneticVariation 0.14 disgenet
Ataxias, Gait FMR1 phenotype C0751837 AlteredExpression 0.14 disgenet
Ataxias, Gait FMR1 phenotype C0751837 Biomarker 0.14 disgenet
Ataxias, Gait CUL4B phenotype C0751837 Biomarker 0.12 disgenet
Ataxias, Gait CUL4B phenotype C0751837 GeneticVariation 0.12 disgenet
Ataxias, Gait SCYL1 phenotype C0751837 Biomarker 0.11 disgenet
Ataxias, Gait SCYL1 phenotype C0751837 GeneticVariation 0.11 disgenet
Ataxias, Gait DARS2 phenotype C0751837 GeneticVariation 0.11 disgenet
Ataxias, Gait PAK1 phenotype C0751837 GeneticVariation 0.11 disgenet
Ataxias, Gait DARS2 phenotype C0751837 CausalMutation 0.11 disgenet
Ataxias, Gait PAK1 phenotype C0751837 Biomarker 0.11 disgenet
Ataxias, Gait SETX phenotype C0751837 GeneticVariation 0.11 disgenet
Ataxias, Gait DOCK3 phenotype C0751837 Biomarker 0.11 disgenet
Ataxias, Gait ITPR1 phenotype C0751837 Biomarker 0.11 disgenet
Ataxias, Gait PRKCG phenotype C0751837 Biomarker 0.11 disgenet
Ataxias, Gait TUBB4A phenotype C0751837 Biomarker 0.11 disgenet
Ataxias, Gait SETX phenotype C0751837 Biomarker 0.11 disgenet
Ataxias, Gait PRNP phenotype C0751837 GeneticVariation 0.11 disgenet
Ataxias, Gait FXN phenotype C0751837 Biomarker 0.11 disgenet
Ataxias, Gait PNPLA6 phenotype C0751837 GeneticVariation 0.11 disgenet
Ataxias, Gait PRNP phenotype C0751837 Biomarker 0.11 disgenet
Ataxias, Gait PRKCG phenotype C0751837 GeneticVariation 0.11 disgenet
Ataxias, Gait PNPLA6 phenotype C0751837 Biomarker 0.11 disgenet
Ataxias, Gait ITPR1 phenotype C0751837 GeneticVariation 0.11 disgenet
Ataxias, Gait PPP1R15B phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait RFXAP phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait MME phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait FAT2 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait ERMARD phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait DNAJC6 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait TRNL1 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait POLG2 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait ND2 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait TRNK phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait AFG3L2 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait OPHN1 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait PLD3 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait BSCL2 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait RFXANK phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait MECP2 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait TECPR2 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait TMEM240 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait APTX phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait SIL1 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait HLA-DQB1 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait SLC2A1 phenotype C0751837 CausalMutation 0.1 disgenet
Ataxias, Gait ND1 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait TMEM106B phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait RAB11B phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait ATXN10 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait SLC9A1 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait RFC1 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait PODXL phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait HSD17B4 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait ARCN1 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait DDX3X phenotype C0751837 GeneticVariation 0.1 disgenet
Ataxias, Gait MECR phenotype C0751837 CausalMutation 0.1 disgenet
Ataxias, Gait ATP1A3 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait CAV1 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait ATP6 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait PDYN phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait ERCC8 phenotype C0751837 CausalMutation 0.1 disgenet
Ataxias, Gait UBTF phenotype C0751837 CausalMutation 0.1 disgenet
Ataxias, Gait GRID2 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait CTBP1 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait RUBCN phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait KIF1C phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait CAPN1 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait STUB1 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait TRNV phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait COA7 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait TCF4 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait CACNA1A phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait SCARB2 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait KCND3 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait RNF113A phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait EIF2S3 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait SLC18A2 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait ATCAY phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait RFX5 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait DKK1 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait MIPEP phenotype C0751837 GeneticVariation 0.1 disgenet
Ataxias, Gait ND4 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait CSF1R phenotype C0751837 CausalMutation 0.1 disgenet
Ataxias, Gait GCH1 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait TH phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait ATAD3A phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait FLVCR1 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait GTF2H5 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait DNAJC3 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait PMPCA phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait PDP1 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait LMNB2 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait TRPC3 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait SYNE1 phenotype C0751837 CausalMutation 0.1 disgenet
Ataxias, Gait ERCC2 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait CHAMP1 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait MAN2B1 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait ELOVL5 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait CACNA2D2 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait GDAP2 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait SLC19A3 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait GCH1 phenotype C0751837 GeneticVariation 0.1 disgenet
Ataxias, Gait GTF2E2 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait CCDC88C phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait SYNE1 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait PLA2G6 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait SPTBN2 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait TRNW phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait ATP6V1A phenotype C0751837 GeneticVariation 0.1 disgenet
Ataxias, Gait ADSL phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait ATXN8 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait ND6 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait WWOX phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait NUP62 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait TANGO2 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait SQSTM1 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait EEF2 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait TGM6 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait ATN1 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait SACS phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait TBP phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait GRM1 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait MARS2 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait ANO10 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait SLC25A4 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait TRIO phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait CLCN2 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait HERC1 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait CWF19L1 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait BEAN1 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait GTPBP2 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait VPS13D phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait PSAP phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait BRAT1 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait ADAR phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait POLG phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait ERCC3 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait ATXN2 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait ATXN8OS phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait GPAA1 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait MRE11 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait MPZ phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait SPG7 phenotype C0751837 CausalMutation 0.1 disgenet
Ataxias, Gait POU3F4 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait SPG7 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait TANGO2 phenotype C0751837 CausalMutation 0.1 disgenet
Ataxias, Gait MPLKIP phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait IFRD1 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait NOP56 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait TPP1 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait UBA5 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait FGF14 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait AP1S2 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait VLDLR phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait TWNK phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait SLC9A6 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait CACNA1G phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait SLC52A2 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait RRM2B phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait COQ2 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait GBA2 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait ND3 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait MAB21L1 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait KCNC3 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait UROC1 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait HTT phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait CIITA phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait RNU12 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait ELOVL4 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait PEX6 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait SYNJ1 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait PMP22 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait ND5 phenotype C0751837 Biomarker 0.1 disgenet
Ataxias, Gait ATXN3 phenotype C0751837 Biomarker 0.02 disgenet
Ataxias, Gait ATXN3 phenotype C0751837 AlteredExpression 0.02 disgenet
Ataxias, Gait RORB phenotype C0751837 Biomarker 0.01 disgenet
Ataxias, Gait CBLN1 phenotype C0751837 GeneticVariation 0.01 disgenet
Ataxias, Gait HIP1 phenotype C0751837 GeneticVariation 0.01 disgenet
Ataxias, Gait ZFYVE9 phenotype C0751837 Biomarker 0.01 disgenet
Ataxias, Gait GAD1 phenotype C0751837 AlteredExpression 0.01 disgenet
Ataxias, Gait SAR1A phenotype C0751837 Biomarker 0.01 disgenet
Ataxias, Gait ELP1 phenotype C0751837 GeneticVariation 0.01 disgenet
Ataxias, Gait TRH phenotype C0751837 Biomarker 0.01 disgenet
Ataxias, Gait SCA18 phenotype C0751837 Biomarker 0.01 disgenet
Ataxias, Gait PPP2R2B phenotype C0751837 Biomarker 0.01 disgenet
Ataxias, Gait FBXO41 phenotype C0751837 GeneticVariation 0.01 disgenet
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