Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Spastic paraplegia 20, autosomal recessive SPART disease C0393559 CausalMutation 0.8 orphanet , disgenet
Spastic paraplegia 20, autosomal recessive SPART disease C0393559 GermlineCausalMutation 0.8 orphanet , disgenet
Spastic paraplegia 20, autosomal recessive SPART disease C0393559 GeneticVariation 0.8 orphanet , disgenet
Spastic paraplegia 20, autosomal recessive SPART disease C0393559 Biomarker 0.8 orphanet , disgenet
Spastic paraplegia 20, autosomal recessive CYP7B1 disease C0393559 GeneticVariation 0.01 disgenet
Spastic paraplegia 20, autosomal recessive SPG11 disease C0393559 GeneticVariation 0.01 disgenet
Spastic paraplegia 20, autosomal recessive PNPLA6 disease C0393559 Biomarker 0.01 disgenet
Spastic paraplegia 20, autosomal recessive NT5E disease C0393559 Biomarker 0.01 disgenet
Spastic paraplegia 20, autosomal recessive ZFYVE26 disease C0393559 Biomarker 0.01 disgenet
Spastic paraplegia 20, autosomal recessive ERLIN2 disease C0393559 GeneticVariation 0.01 disgenet
Spastic paraplegia 20, autosomal recessive EGFR disease C0393559 Biomarker 0.01 disgenet
Spastic paraplegia 20, autosomal recessive EGF disease C0393559 Biomarker 0.01 disgenet
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