Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Spastic Paraplegia 39, Autosomal Recessive PNPLA6 disease C2677586 CausalMutation 0.74 orphanet , disgenet
Spastic Paraplegia 39, Autosomal Recessive PNPLA6 disease C2677586 Biomarker 0.74 orphanet , disgenet
Spastic Paraplegia 39, Autosomal Recessive PNPLA6 disease C2677586 GeneticVariation 0.74 orphanet , disgenet
Spastic Paraplegia 39, Autosomal Recessive PNPLA6 disease C2677586 GermlineCausalMutation 0.74 orphanet , disgenet
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