Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Spastic paraplegia 4, autosomal dominant SPAST disease C1866855 CausalMutation 1 orphanet , disgenet
Spastic paraplegia 4, autosomal dominant SPAST disease C1866855 Biomarker 1 orphanet , disgenet
Spastic paraplegia 4, autosomal dominant SPAST disease C1866855 AlteredExpression 1 orphanet , disgenet
Spastic paraplegia 4, autosomal dominant SPAST disease C1866855 GeneticVariation 1 orphanet , disgenet
Spastic paraplegia 4, autosomal dominant SPAST disease C1866855 GermlineCausalMutation 1 orphanet , disgenet
Spastic paraplegia 4, autosomal dominant ATL1 disease C1866855 GeneticVariation 0.02 disgenet
Spastic paraplegia 4, autosomal dominant ATL1 disease C1866855 Biomarker 0.02 disgenet
Spastic paraplegia 4, autosomal dominant REEP1 disease C1866855 GeneticVariation 0.01 disgenet
Spastic paraplegia 4, autosomal dominant NIPA1 disease C1866855 GeneticVariation 0.01 disgenet
Spastic paraplegia 4, autosomal dominant HSP90B2P disease C1866855 Biomarker 0.01 disgenet
Spastic paraplegia 4, autosomal dominant IFT122 disease C1866855 GeneticVariation 0.01 disgenet
Spastic paraplegia 4, autosomal dominant SPG11 disease C1866855 GeneticVariation 0.01 disgenet
Spastic paraplegia 4, autosomal dominant SLC30A6 disease C1866855 GeneticVariation 0.01 disgenet
Spastic paraplegia 4, autosomal dominant SPG16 disease C1866855 GeneticVariation 0.01 disgenet
Spastic paraplegia 4, autosomal dominant DPY30 disease C1866855 GeneticVariation 0.01 disgenet
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