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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