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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