Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Neuronopathy, Distal Hereditary Motor, Type V |
GARS1 |
disease |
C1833308 |
CausalMutation |
0.8 |
disgenet |
Neuronopathy, Distal Hereditary Motor, Type V |
GARS1 |
disease |
C1833308 |
GermlineCausalMutation |
0.8 |
disgenet |
Neuronopathy, Distal Hereditary Motor, Type V |
GARS1 |
disease |
C1833308 |
GeneticVariation |
0.8 |
disgenet |
Neuronopathy, Distal Hereditary Motor, Type V |
GARS1 |
disease |
C1833308 |
Biomarker |
0.8 |
disgenet |
Neuronopathy, Distal Hereditary Motor, Type V |
BSCL2 |
disease |
C1833308 |
GeneticVariation |
0.76 |
disgenet |
Neuronopathy, Distal Hereditary Motor, Type V |
BSCL2 |
disease |
C1833308 |
Biomarker |
0.76 |
disgenet |
Neuronopathy, Distal Hereditary Motor, Type V |
BSCL2 |
disease |
C1833308 |
CausalMutation |
0.76 |
disgenet |
Neuronopathy, Distal Hereditary Motor, Type V |
BSCL2 |
disease |
C1833308 |
GermlineCausalMutation |
0.76 |
disgenet |
Neuronopathy, Distal Hereditary Motor, Type V |
REEP1 |
disease |
C1833308 |
GermlineCausalMutation |
0.51 |
disgenet |
Neuronopathy, Distal Hereditary Motor, Type V |
REEP1 |
disease |
C1833308 |
GeneticVariation |
0.51 |
disgenet |
Neuronopathy, Distal Hereditary Motor, Type V |
REEP1 |
disease |
C1833308 |
Biomarker |
0.51 |
disgenet |
Neuronopathy, Distal Hereditary Motor, Type V |
HNRNPUL2-BSCL2 |
disease |
C1833308 |
CausalMutation |
0.1 |
disgenet |
Neuronopathy, Distal Hereditary Motor, Type V |
PNPO |
disease |
C1833308 |
CausalMutation |
0.1 |
disgenet |
Neuronopathy, Distal Hereditary Motor, Type V |
GART |
disease |
C1833308 |
GeneticVariation |
0.05 |
disgenet |
Neuronopathy, Distal Hereditary Motor, Type V |
AIFM1 |
disease |
C1833308 |
Biomarker |
0.03 |
disgenet |
Neuronopathy, Distal Hereditary Motor, Type V |
AIFM1 |
disease |
C1833308 |
GeneticVariation |
0.03 |
disgenet |
Neuronopathy, Distal Hereditary Motor, Type V |
KIF1B |
disease |
C1833308 |
Biomarker |
0.01 |
disgenet |
Neuronopathy, Distal Hereditary Motor, Type V |
BCL2A1 |
disease |
C1833308 |
Biomarker |
0.01 |
disgenet |
Neuronopathy, Distal Hereditary Motor, Type V |
MAD2L1BP |
disease |
C1833308 |
Biomarker |
0.01 |
disgenet |
Neuronopathy, Distal Hereditary Motor, Type V |
HSPB1 |
disease |
C1833308 |
Biomarker |
0.01 |
disgenet |
Neuronopathy, Distal Hereditary Motor, Type V |
HSPB8 |
disease |
C1833308 |
Biomarker |
0.01 |
disgenet |
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