Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Spastic Paraplegia 5a, Autosomal Recessive | CYP7B1 | disease | C1849115 | Biomarker | 0.7 | disgenet |
Spastic Paraplegia 5a, Autosomal Recessive | CYP7B1 | disease | C1849115 | CausalMutation | 0.7 | disgenet |
Spastic Paraplegia 5a, Autosomal Recessive | CYP7B1 | disease | C1849115 | GermlineCausalMutation | 0.7 | disgenet |
Spastic Paraplegia 5a, Autosomal Recessive | CYP7B1 | disease | C1849115 | GeneticVariation | 0.7 | disgenet |
Spastic Paraplegia 5a, Autosomal Recessive | ALDH18A1 | disease | C1849115 | GeneticVariation | 0.1 | disgenet |
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