Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Spastic Paraplegia 42, Autosomal Dominant SLC33A1 disease C2675528 GeneticVariation 0.71 orphanet , disgenet
Spastic Paraplegia 42, Autosomal Dominant SLC33A1 disease C2675528 GermlineCausalMutation 0.71 orphanet , disgenet
Spastic Paraplegia 42, Autosomal Dominant SLC33A1 disease C2675528 Biomarker 0.71 orphanet , disgenet
Spastic Paraplegia 42, Autosomal Dominant SLC33A1 disease C2675528 CausalMutation 0.71 orphanet , disgenet
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