Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Ataxia, Spinocerebellar ATXN1 disease C0087012 GeneticVariation 0.5 disgenet
Ataxia, Spinocerebellar ATXN1 disease C0087012 Biomarker 0.5 disgenet
Ataxia, Spinocerebellar ATXN1 disease C0087012 AlteredExpression 0.5 disgenet
Ataxia, Spinocerebellar ATXN7 disease C0087012 Biomarker 0.4 disgenet
Ataxia, Spinocerebellar ATXN7 disease C0087012 AlteredExpression 0.4 disgenet
Ataxia, Spinocerebellar CACNA1A disease C0087012 AlteredExpression 0.4 disgenet
Ataxia, Spinocerebellar CACNA1A disease C0087012 Biomarker 0.4 disgenet
Ataxia, Spinocerebellar ATXN7 disease C0087012 GeneticVariation 0.4 disgenet
Ataxia, Spinocerebellar CACNA1A disease C0087012 GeneticVariation 0.4 disgenet
Ataxia, Spinocerebellar ATXN2 disease C0087012 AlteredExpression 0.4 disgenet
Ataxia, Spinocerebellar ATXN2 disease C0087012 GeneticVariation 0.4 disgenet
Ataxia, Spinocerebellar ATXN2 disease C0087012 Biomarker 0.4 disgenet
Ataxia, Spinocerebellar PRKCG disease C0087012 Biomarker 0.37 disgenet
Ataxia, Spinocerebellar STUB1 disease C0087012 GeneticVariation 0.37 disgenet
Ataxia, Spinocerebellar PRKCG disease C0087012 GeneticVariation 0.37 disgenet
Ataxia, Spinocerebellar STUB1 disease C0087012 Biomarker 0.37 disgenet
Ataxia, Spinocerebellar PPP2R2B disease C0087012 GeneticVariation 0.35 disgenet
Ataxia, Spinocerebellar PPP2R2B disease C0087012 Biomarker 0.35 disgenet
Ataxia, Spinocerebellar SPTBN2 disease C0087012 Biomarker 0.34 disgenet
Ataxia, Spinocerebellar AFG3L2 disease C0087012 GeneticVariation 0.34 disgenet
Ataxia, Spinocerebellar TTBK2 disease C0087012 Biomarker 0.34 disgenet
Ataxia, Spinocerebellar SPTBN2 disease C0087012 GeneticVariation 0.34 disgenet
Ataxia, Spinocerebellar TTBK2 disease C0087012 GeneticVariation 0.34 disgenet
Ataxia, Spinocerebellar AFG3L2 disease C0087012 Biomarker 0.34 disgenet
Ataxia, Spinocerebellar CACNA1G disease C0087012 Biomarker 0.32 orphanet , disgenet
Ataxia, Spinocerebellar CACNA1G disease C0087012 GeneticVariation 0.32 orphanet , disgenet
Ataxia, Spinocerebellar WWOX disease C0087012 Biomarker 0.32 disgenet
Ataxia, Spinocerebellar WWOX disease C0087012 GeneticVariation 0.32 disgenet
Ataxia, Spinocerebellar GRM1 disease C0087012 Biomarker 0.32 disgenet
Ataxia, Spinocerebellar GRM1 disease C0087012 GeneticVariation 0.32 disgenet
Ataxia, Spinocerebellar TGM6 disease C0087012 Biomarker 0.32 orphanet , disgenet
Ataxia, Spinocerebellar TGM6 disease C0087012 GeneticVariation 0.32 orphanet , disgenet
Ataxia, Spinocerebellar ANO10 disease C0087012 GeneticVariation 0.31 disgenet
Ataxia, Spinocerebellar CCDC88C disease C0087012 GeneticVariation 0.31 orphanet , disgenet
Ataxia, Spinocerebellar ATXN1L disease C0087012 AlteredExpression 0.31 disgenet
Ataxia, Spinocerebellar ANO10 disease C0087012 Biomarker 0.31 disgenet
Ataxia, Spinocerebellar SYT14 disease C0087012 Biomarker 0.31 disgenet
Ataxia, Spinocerebellar ATXN1L disease C0087012 Therapeutic 0.31 disgenet
Ataxia, Spinocerebellar SYT14 disease C0087012 GeneticVariation 0.31 disgenet
Ataxia, Spinocerebellar TDP2 disease C0087012 GeneticVariation 0.31 disgenet
Ataxia, Spinocerebellar CCDC88C disease C0087012 Biomarker 0.31 orphanet , disgenet
Ataxia, Spinocerebellar TDP2 disease C0087012 Biomarker 0.31 disgenet
Ataxia, Spinocerebellar RBM17 disease C0087012 Biomarker 0.3 disgenet
Ataxia, Spinocerebellar VWA3B disease C0087012 Biomarker 0.3 disgenet
Ataxia, Spinocerebellar CWF19L1 disease C0087012 Biomarker 0.3 disgenet
Ataxia, Spinocerebellar GFI1 disease C0087012 Biomarker 0.3 disgenet
Ataxia, Spinocerebellar TRPC3 disease C0087012 Biomarker 0.3 orphanet , disgenet
Ataxia, Spinocerebellar FOXC1 disease C0087012 Biomarker 0.3 disgenet
Ataxia, Spinocerebellar MME disease C0087012 Biomarker 0.3 orphanet , disgenet
Ataxia, Spinocerebellar GRID2 disease C0087012 Biomarker 0.3 disgenet
Ataxia, Spinocerebellar CIC disease C0087012 Biomarker 0.3 disgenet
Ataxia, Spinocerebellar UBA5 disease C0087012 Biomarker 0.3 disgenet
Ataxia, Spinocerebellar NOP56 disease C0087012 Biomarker 0.3 orphanet , disgenet
Ataxia, Spinocerebellar SCYL1 disease C0087012 Biomarker 0.3 disgenet
Ataxia, Spinocerebellar ELOVL5 disease C0087012 Biomarker 0.3 orphanet , disgenet
Ataxia, Spinocerebellar SNX14 disease C0087012 Biomarker 0.3 disgenet
Ataxia, Spinocerebellar RUBCN disease C0087012 Biomarker 0.3 disgenet
Ataxia, Spinocerebellar POLG disease C0087012 GeneticVariation 0.11 disgenet
Ataxia, Spinocerebellar POLG disease C0087012 CausalMutation 0.11 disgenet
Ataxia, Spinocerebellar PNPLA6 disease C0087012 Biomarker 0.1 disgenet
Ataxia, Spinocerebellar ITPR1 disease C0087012 Biomarker 0.1 disgenet
Ataxia, Spinocerebellar ITPR1 disease C0087012 GeneticVariation 0.1 disgenet
Ataxia, Spinocerebellar SLC52A2 disease C0087012 Biomarker 0.1 disgenet
Ataxia, Spinocerebellar LY6E disease C0087012 Biomarker 0.1 disgenet
Ataxia, Spinocerebellar TDP1 disease C0087012 AlteredExpression 0.1 disgenet
Ataxia, Spinocerebellar PEX6 disease C0087012 Biomarker 0.1 orphanet , disgenet
Ataxia, Spinocerebellar TBP disease C0087012 Biomarker 0.1 disgenet
Ataxia, Spinocerebellar FXN disease C0087012 GeneticVariation 0.1 disgenet
Ataxia, Spinocerebellar FXN disease C0087012 Biomarker 0.1 disgenet
Ataxia, Spinocerebellar TWNK disease C0087012 Biomarker 0.1 disgenet
Ataxia, Spinocerebellar LY6E disease C0087012 GeneticVariation 0.1 disgenet
Ataxia, Spinocerebellar TDP1 disease C0087012 Biomarker 0.1 disgenet
Ataxia, Spinocerebellar TBP disease C0087012 GeneticVariation 0.1 disgenet
Ataxia, Spinocerebellar TWNK disease C0087012 GeneticVariation 0.1 disgenet
Ataxia, Spinocerebellar ATXN3 disease C0087012 Biomarker 0.1 disgenet
Ataxia, Spinocerebellar ATXN3 disease C0087012 GeneticVariation 0.1 disgenet
Ataxia, Spinocerebellar TDP1 disease C0087012 GeneticVariation 0.1 disgenet
Ataxia, Spinocerebellar ATXN8OS disease C0087012 GeneticVariation 0.09 disgenet
Ataxia, Spinocerebellar ATXN8OS disease C0087012 Biomarker 0.09 disgenet
Ataxia, Spinocerebellar ATN1 disease C0087012 GeneticVariation 0.09 disgenet
Ataxia, Spinocerebellar ATN1 disease C0087012 Biomarker 0.09 disgenet
Ataxia, Spinocerebellar ATXN10 disease C0087012 Biomarker 0.08 disgenet
Ataxia, Spinocerebellar ATXN10 disease C0087012 GeneticVariation 0.08 disgenet
Ataxia, Spinocerebellar CASP3 disease C0087012 GeneticVariation 0.07 disgenet
Ataxia, Spinocerebellar KCND3 disease C0087012 GeneticVariation 0.06 disgenet
Ataxia, Spinocerebellar KCND3 disease C0087012 Biomarker 0.06 disgenet
Ataxia, Spinocerebellar TPO disease C0087012 Biomarker 0.05 disgenet
Ataxia, Spinocerebellar TPO disease C0087012 GeneticVariation 0.05 disgenet
Ataxia, Spinocerebellar FMR1 disease C0087012 GeneticVariation 0.04 disgenet
Ataxia, Spinocerebellar APTX disease C0087012 Biomarker 0.04 disgenet
Ataxia, Spinocerebellar PLEKHG4 disease C0087012 GeneticVariation 0.04 disgenet
Ataxia, Spinocerebellar APTX disease C0087012 GeneticVariation 0.04 disgenet
Ataxia, Spinocerebellar HTT disease C0087012 Biomarker 0.04 disgenet
Ataxia, Spinocerebellar FGF14 disease C0087012 Biomarker 0.04 disgenet
Ataxia, Spinocerebellar HTT disease C0087012 GeneticVariation 0.04 disgenet
Ataxia, Spinocerebellar HTT disease C0087012 AlteredExpression 0.04 disgenet
Ataxia, Spinocerebellar FGF14 disease C0087012 AlteredExpression 0.04 disgenet
Ataxia, Spinocerebellar CANT1 disease C0087012 GeneticVariation 0.04 disgenet
Ataxia, Spinocerebellar FGF14 disease C0087012 GeneticVariation 0.04 disgenet
Ataxia, Spinocerebellar SPG7 disease C0087012 GeneticVariation 0.04 disgenet
Ataxia, Spinocerebellar SPG7 disease C0087012 Biomarker 0.04 disgenet
Ataxia, Spinocerebellar C9orf72 disease C0087012 GeneticVariation 0.03 disgenet
Ataxia, Spinocerebellar PDYN disease C0087012 GeneticVariation 0.03 disgenet
Ataxia, Spinocerebellar KCNC3 disease C0087012 GeneticVariation 0.03 disgenet
Ataxia, Spinocerebellar C9orf72 disease C0087012 Biomarker 0.03 disgenet
Ataxia, Spinocerebellar TTPA disease C0087012 Biomarker 0.02 disgenet
Ataxia, Spinocerebellar PRNP disease C0087012 GeneticVariation 0.02 disgenet
Ataxia, Spinocerebellar AR disease C0087012 AlteredExpression 0.02 disgenet
Ataxia, Spinocerebellar PRNP disease C0087012 Biomarker 0.02 disgenet
Ataxia, Spinocerebellar CAPN1 disease C0087012 GeneticVariation 0.02 disgenet
Ataxia, Spinocerebellar TTPA disease C0087012 GeneticVariation 0.02 disgenet
Ataxia, Spinocerebellar AR disease C0087012 Biomarker 0.02 disgenet
Ataxia, Spinocerebellar COQ8A disease C0087012 GeneticVariation 0.02 disgenet
Ataxia, Spinocerebellar CNTN4 disease C0087012 Biomarker 0.02 disgenet
Ataxia, Spinocerebellar JPH3 disease C0087012 Biomarker 0.02 disgenet
Ataxia, Spinocerebellar CNTN4 disease C0087012 GeneticVariation 0.02 disgenet
Ataxia, Spinocerebellar PCBP4 disease C0087012 AlteredExpression 0.01 disgenet
Ataxia, Spinocerebellar OPN1LW disease C0087012 AlteredExpression 0.01 disgenet
Ataxia, Spinocerebellar EIF4E disease C0087012 AlteredExpression 0.01 disgenet
Ataxia, Spinocerebellar TRIO disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar TTC19 disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar UCHL3 disease C0087012 AlteredExpression 0.01 disgenet
Ataxia, Spinocerebellar COQ4 disease C0087012 Biomarker 0.01 disgenet
Ataxia, Spinocerebellar ELF2 disease C0087012 AlteredExpression 0.01 disgenet
Ataxia, Spinocerebellar CRH disease C0087012 AlteredExpression 0.01 disgenet
Ataxia, Spinocerebellar NFAT5 disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar AAAS disease C0087012 Biomarker 0.01 disgenet
Ataxia, Spinocerebellar TK2 disease C0087012 Biomarker 0.01 disgenet
Ataxia, Spinocerebellar RAI1 disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar CDK20 disease C0087012 Biomarker 0.01 disgenet
Ataxia, Spinocerebellar ATP6 disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar H2AX disease C0087012 Biomarker 0.01 disgenet
Ataxia, Spinocerebellar CDKL1 disease C0087012 Biomarker 0.01 disgenet
Ataxia, Spinocerebellar ALAS2 disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar FGF3 disease C0087012 AlteredExpression 0.01 disgenet
Ataxia, Spinocerebellar KCNA1 disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar TH disease C0087012 Biomarker 0.01 disgenet
Ataxia, Spinocerebellar FGF8 disease C0087012 AlteredExpression 0.01 disgenet
Ataxia, Spinocerebellar PLA2G1B disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar NUP43 disease C0087012 Biomarker 0.01 disgenet
Ataxia, Spinocerebellar MTCL1 disease C0087012 Biomarker 0.01 disgenet
Ataxia, Spinocerebellar FMR1-IT1 disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar OGA disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar TREH disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar SNCA disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar ST8 disease C0087012 Biomarker 0.01 disgenet
Ataxia, Spinocerebellar ELOVL4 disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar PRKN disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar ATP2B3 disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar TGFB1 disease C0087012 AlteredExpression 0.01 disgenet
Ataxia, Spinocerebellar PUM1 disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar AIPL1 disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar APOE disease C0087012 Biomarker 0.01 disgenet
Ataxia, Spinocerebellar PLA2G2A disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar TOP1 disease C0087012 Biomarker 0.01 disgenet
Ataxia, Spinocerebellar VPS13D disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar F13A1 disease C0087012 Biomarker 0.01 disgenet
Ataxia, Spinocerebellar HLA-A disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar PRKACG disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar KIF1A disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar ETV1 disease C0087012 AlteredExpression 0.01 disgenet
Ataxia, Spinocerebellar AAA1 disease C0087012 Biomarker 0.01 disgenet
Ataxia, Spinocerebellar EPHB2 disease C0087012 Biomarker 0.01 disgenet
Ataxia, Spinocerebellar GUCA1A disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar IGFALS disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar GFAP disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar FGF21 disease C0087012 AlteredExpression 0.01 disgenet
Ataxia, Spinocerebellar SCN8A disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar RPE65 disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar PLA2G6 disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar NEAT1 disease C0087012 Biomarker 0.01 disgenet
Ataxia, Spinocerebellar FGF10 disease C0087012 AlteredExpression 0.01 disgenet
Ataxia, Spinocerebellar LIG4 disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar FRAXE disease C0087012 Biomarker 0.01 disgenet
Ataxia, Spinocerebellar APP disease C0087012 Biomarker 0.01 disgenet
Ataxia, Spinocerebellar MAPK1 disease C0087012 Biomarker 0.01 disgenet
Ataxia, Spinocerebellar GJB1 disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar BEAN1 disease C0087012 Biomarker 0.01 disgenet
Ataxia, Spinocerebellar LRRK2 disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar SETX disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar H3P30 disease C0087012 Biomarker 0.01 disgenet
Ataxia, Spinocerebellar SCASI disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar RPS4X disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar SOD1 disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar FGF20 disease C0087012 AlteredExpression 0.01 disgenet
Ataxia, Spinocerebellar NEFL disease C0087012 Biomarker 0.01 disgenet
Ataxia, Spinocerebellar ABCD1 disease C0087012 Biomarker 0.01 disgenet
Ataxia, Spinocerebellar PRPF8 disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar CAT disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar FGF9 disease C0087012 AlteredExpression 0.01 disgenet
Ataxia, Spinocerebellar MIR144 disease C0087012 Biomarker 0.01 disgenet
Ataxia, Spinocerebellar FGF23 disease C0087012 AlteredExpression 0.01 disgenet
Ataxia, Spinocerebellar CREBBP disease C0087012 AlteredExpression 0.01 disgenet
Ataxia, Spinocerebellar MIR29A disease C0087012 AlteredExpression 0.01 disgenet
Ataxia, Spinocerebellar PSMC6 disease C0087012 Biomarker 0.01 disgenet
Ataxia, Spinocerebellar ERDA1 disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar TMEM240 disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar FRAXA disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar COQ2 disease C0087012 Biomarker 0.01 disgenet
Ataxia, Spinocerebellar GLO1 disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar SUMF1 disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar PNKP disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar TCF4 disease C0087012 GeneticVariation 0.01 disgenet
Ataxia, Spinocerebellar PAG1 disease C0087012 AlteredExpression 0.01 disgenet
Ataxia, Spinocerebellar TPP1 NA C0087012 NA NA orphanet
Ataxia, Spinocerebellar PLD3 NA C0087012 NA NA orphanet
Ataxia, Spinocerebellar DAB1 NA C0087012 NA NA orphanet
Ataxia, Spinocerebellar FAT2 NA C0087012 NA NA orphanet
Ataxia, Spinocerebellar SCA32 NA C0087012 NA NA orphanet
Ataxia, Spinocerebellar SCA37 NA C0087012 NA NA orphanet
Ataxia, Spinocerebellar ABCB7 NA C0087012 NA NA orphanet
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