Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Spastic ataxia Charlevoix-Saguenay type SACS disease C1849140 GeneticVariation 0.8 orphanet , disgenet
Spastic ataxia Charlevoix-Saguenay type SACS disease C1849140 CausalMutation 0.8 orphanet , disgenet
Spastic ataxia Charlevoix-Saguenay type SACS disease C1849140 AlteredExpression 0.8 orphanet , disgenet
Spastic ataxia Charlevoix-Saguenay type SACS disease C1849140 Biomarker 0.8 orphanet , disgenet
Spastic ataxia Charlevoix-Saguenay type ANKFY1 disease C1849140 Biomarker 0.2 disgenet
Spastic ataxia Charlevoix-Saguenay type DNM1L disease C1849140 Biomarker 0.02 disgenet
Spastic ataxia Charlevoix-Saguenay type DAPK2 disease C1849140 Biomarker 0.02 disgenet
Spastic ataxia Charlevoix-Saguenay type DENR disease C1849140 Biomarker 0.02 disgenet
Spastic ataxia Charlevoix-Saguenay type CRMP1 disease C1849140 Biomarker 0.02 disgenet
Spastic ataxia Charlevoix-Saguenay type DNM1L disease C1849140 AlteredExpression 0.02 disgenet
Spastic ataxia Charlevoix-Saguenay type SGCG disease C1849140 GeneticVariation 0.02 disgenet
Spastic ataxia Charlevoix-Saguenay type UTRN disease C1849140 Biomarker 0.02 disgenet
Spastic ataxia Charlevoix-Saguenay type SPG7 disease C1849140 Biomarker 0.01 disgenet
Spastic ataxia Charlevoix-Saguenay type SLURP1 disease C1849140 Biomarker 0.01 disgenet
Spastic ataxia Charlevoix-Saguenay type AFG3L2 disease C1849140 Biomarker 0.01 disgenet
Spastic ataxia Charlevoix-Saguenay type VIM disease C1849140 Biomarker 0.01 disgenet
Spastic ataxia Charlevoix-Saguenay type SUN2 disease C1849140 Biomarker 0.01 disgenet
Spastic ataxia Charlevoix-Saguenay type LAMP2 disease C1849140 AlteredExpression 0.01 disgenet
Spastic ataxia Charlevoix-Saguenay type RIEG2 disease C1849140 Biomarker 0.01 disgenet
Spastic ataxia Charlevoix-Saguenay type COQ8A disease C1849140 GeneticVariation 0.01 disgenet
Spastic ataxia Charlevoix-Saguenay type APTX disease C1849140 GeneticVariation 0.01 disgenet
Spastic ataxia Charlevoix-Saguenay type DCPS disease C1849140 Biomarker 0.01 disgenet
Spastic ataxia Charlevoix-Saguenay type PACC1 disease C1849140 Biomarker 0.01 disgenet
Spastic ataxia Charlevoix-Saguenay type TRPS1 disease C1849140 GeneticVariation 0.01 disgenet
Spastic ataxia Charlevoix-Saguenay type P4HB disease C1849140 Biomarker 0.01 disgenet
Spastic ataxia Charlevoix-Saguenay type POLG disease C1849140 GeneticVariation 0.01 disgenet
Spastic ataxia Charlevoix-Saguenay type SETX disease C1849140 GeneticVariation 0.01 disgenet
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