Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis |
POLG |
disease |
C1843851 |
CausalMutation |
0.76 |
disgenet |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis |
POLG |
disease |
C1843851 |
GeneticVariation |
0.76 |
disgenet |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis |
POLG |
disease |
C1843851 |
Biomarker |
0.76 |
disgenet |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis |
POLG |
disease |
C1843851 |
GermlineCausalMutation |
0.76 |
disgenet |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis |
TWNK |
disease |
C1843851 |
GeneticVariation |
0.51 |
disgenet |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis |
TWNK |
disease |
C1843851 |
Biomarker |
0.51 |
disgenet |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis |
PRICKLE2-AS1 |
disease |
C1843851 |
CausalMutation |
0.1 |
disgenet |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis |
PRICKLE2 |
disease |
C1843851 |
CausalMutation |
0.1 |
disgenet |
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