Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Spinocerebellar ataxia 8 ATXN8 disease C1837454 GeneticVariation 0.67 orphanet , disgenet
Spinocerebellar ataxia 8 ATXN8 disease C1837454 GermlineCausalMutation 0.67 orphanet , disgenet
Spinocerebellar ataxia 8 ATXN8 disease C1837454 AlteredExpression 0.67 orphanet , disgenet
Spinocerebellar ataxia 8 ATXN8 disease C1837454 Biomarker 0.67 orphanet , disgenet
Spinocerebellar ataxia 8 ATXN8OS disease C1837454 AlteredExpression 0.6 orphanet , disgenet
Spinocerebellar ataxia 8 ATXN8OS disease C1837454 GeneticVariation 0.6 orphanet , disgenet
Spinocerebellar ataxia 8 ATXN8OS disease C1837454 Biomarker 0.6 orphanet , disgenet
Spinocerebellar ataxia 8 ATXN8OS disease C1837454 GermlineCausalMutation 0.6 orphanet , disgenet
Spinocerebellar ataxia 8 TWNK disease C1837454 GeneticVariation 0.08 disgenet
Spinocerebellar ataxia 8 TWNK disease C1837454 Biomarker 0.08 disgenet
Spinocerebellar ataxia 8 TWNK disease C1837454 AlteredExpression 0.08 disgenet
Spinocerebellar ataxia 8 RAN disease C1837454 Biomarker 0.04 disgenet
Spinocerebellar ataxia 8 KLHL1 disease C1837454 AlteredExpression 0.03 disgenet
Spinocerebellar ataxia 8 KLHL1 disease C1837454 Biomarker 0.03 disgenet
Spinocerebellar ataxia 8 PCYT1A disease C1837454 Biomarker 0.02 disgenet
Spinocerebellar ataxia 8 C9orf72 disease C1837454 GeneticVariation 0.02 disgenet
Spinocerebellar ataxia 8 CERNA3 disease C1837454 Biomarker 0.02 disgenet
Spinocerebellar ataxia 8 SLC6A11 disease C1837454 AlteredExpression 0.01 disgenet
Spinocerebellar ataxia 8 ATXN10 disease C1837454 GeneticVariation 0.01 disgenet
Spinocerebellar ataxia 8 BEAN1 disease C1837454 GeneticVariation 0.01 disgenet
Spinocerebellar ataxia 8 MBNL1 disease C1837454 Biomarker 0.01 disgenet
Spinocerebellar ataxia 8 ACTB disease C1837454 Biomarker 0.01 disgenet
Spinocerebellar ataxia 8 CACNA1A disease C1837454 Biomarker 0.01 disgenet
Spinocerebellar ataxia 8 AR disease C1837454 GeneticVariation 0.01 disgenet
Spinocerebellar ataxia 8 PPP2R2B disease C1837454 GeneticVariation 0.01 disgenet
Spinocerebellar ataxia 8 EIF3F disease C1837454 Biomarker 0.01 disgenet
Spinocerebellar ataxia 8 TK2 disease C1837454 GeneticVariation 0.01 disgenet
Spinocerebellar ataxia 8 SYNE1 disease C1837454 GeneticVariation 0.01 disgenet
Spinocerebellar ataxia 8 PDYN disease C1837454 Biomarker 0.01 disgenet
Spinocerebellar ataxia 8 CELF1 disease C1837454 AlteredExpression 0.01 disgenet
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