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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