Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Spastic paraplegia 17 BSCL2 disease C2931276 GermlineCausalMutation 0.8 orphanet , disgenet
Spastic paraplegia 17 BSCL2 disease C2931276 GeneticVariation 0.8 orphanet , disgenet
Spastic paraplegia 17 BSCL2 disease C2931276 Biomarker 0.8 orphanet , disgenet
Spastic paraplegia 17 BSCL2 disease C2931276 CausalMutation 0.8 orphanet , disgenet
Spastic paraplegia 17 HNRNPUL2-BSCL2 disease C2931276 CausalMutation 0.1 disgenet
Spastic paraplegia 17 HNRNPUL2-BSCL2 disease C2931276 GeneticVariation 0.1 disgenet
Spastic paraplegia 17 GARS1 disease C2931276 Biomarker 0.02 disgenet
Spastic paraplegia 17 SPAST disease C2931276 Biomarker 0.01 disgenet
Spastic paraplegia 17 GART disease C2931276 GeneticVariation 0.01 disgenet
Spastic paraplegia 17 KIF1B disease C2931276 Biomarker 0.01 disgenet
Spastic paraplegia 17 HSPB8 disease C2931276 Biomarker 0.01 disgenet
Spastic paraplegia 17 MAD2L1BP disease C2931276 Biomarker 0.01 disgenet
Spastic paraplegia 17 SPG38 disease C2931276 Biomarker 0.01 disgenet
Spastic paraplegia 17 HSPB1 disease C2931276 Biomarker 0.01 disgenet
Spastic paraplegia 17 AIFM1 disease C2931276 Biomarker 0.01 disgenet
Spastic paraplegia 17 HSP90B2P disease C2931276 GeneticVariation 0.01 disgenet
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