Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Spinocerebellar ataxia, autosomal recessive 1 SETX disease C1853761 Biomarker 0.8 orphanet , disgenet
Spinocerebellar ataxia, autosomal recessive 1 SETX disease C1853761 AlteredExpression 0.8 orphanet , disgenet
Spinocerebellar ataxia, autosomal recessive 1 SETX disease C1853761 GeneticVariation 0.8 orphanet , disgenet
Spinocerebellar ataxia, autosomal recessive 1 SETX disease C1853761 GermlineCausalMutation 0.8 orphanet , disgenet
Spinocerebellar ataxia, autosomal recessive 1 SETX disease C1853761 CausalMutation 0.8 orphanet , disgenet
Spinocerebellar ataxia, autosomal recessive 1 APTX disease C1853761 Biomarker 0.4 disgenet
Spinocerebellar ataxia, autosomal recessive 1 APTX disease C1853761 GeneticVariation 0.4 disgenet
Spinocerebellar ataxia, autosomal recessive 1 PIK3R5 disease C1853761 GermlineCausalMutation 0.3 orphanet , disgenet
Spinocerebellar ataxia, autosomal recessive 1 PNKP disease C1853761 GeneticVariation 0.05 disgenet
Spinocerebellar ataxia, autosomal recessive 1 PNKP disease C1853761 Biomarker 0.05 disgenet
Spinocerebellar ataxia, autosomal recessive 1 FXN disease C1853761 Biomarker 0.04 disgenet
Spinocerebellar ataxia, autosomal recessive 1 MORF4 disease C1853761 Biomarker 0.02 disgenet
Spinocerebellar ataxia, autosomal recessive 1 AFP disease C1853761 Biomarker 0.02 disgenet
Spinocerebellar ataxia, autosomal recessive 1 MORF4 disease C1853761 GeneticVariation 0.02 disgenet
Spinocerebellar ataxia, autosomal recessive 1 AFP disease C1853761 AlteredExpression 0.02 disgenet
Spinocerebellar ataxia, autosomal recessive 1 DHX16 disease C1853761 GeneticVariation 0.01 disgenet
Spinocerebellar ataxia, autosomal recessive 1 SPTBN2 disease C1853761 GeneticVariation 0.01 disgenet
Spinocerebellar ataxia, autosomal recessive 1 DDX19A disease C1853761 GeneticVariation 0.01 disgenet
Spinocerebellar ataxia, autosomal recessive 1 XRCC1 disease C1853761 Biomarker 0.01 disgenet
Spinocerebellar ataxia, autosomal recessive 1 DDX46 disease C1853761 GeneticVariation 0.01 disgenet
Spinocerebellar ataxia, autosomal recessive 1 KIF1A disease C1853761 GeneticVariation 0.01 disgenet
Spinocerebellar ataxia, autosomal recessive 1 TTPA disease C1853761 Biomarker 0.01 disgenet
Spinocerebellar ataxia, autosomal recessive 1 WASF1 disease C1853761 GeneticVariation 0.01 disgenet
Spinocerebellar ataxia, autosomal recessive 1 ALB disease C1853761 GeneticVariation 0.01 disgenet
Spinocerebellar ataxia, autosomal recessive 1 SACS disease C1853761 GeneticVariation 0.01 disgenet
Spinocerebellar ataxia, autosomal recessive 1 XRCC6P5 disease C1853761 Biomarker 0.01 disgenet
Spinocerebellar ataxia, autosomal recessive 1 CANT1 disease C1853761 GeneticVariation 0.01 disgenet
Spinocerebellar ataxia, autosomal recessive 1 ITPR1 disease C1853761 GeneticVariation 0.01 disgenet
Spinocerebellar ataxia, autosomal recessive 1 POLG disease C1853761 Biomarker 0.01 disgenet
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