Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Spastic Paraplegia 31, Autosomal Dominant | REEP1 | disease | C1853247 | CausalMutation | 0.92 | orphanet , disgenet |
Spastic Paraplegia 31, Autosomal Dominant | REEP1 | disease | C1853247 | GeneticVariation | 0.92 | orphanet , disgenet |
Spastic Paraplegia 31, Autosomal Dominant | REEP1 | disease | C1853247 | Biomarker | 0.92 | orphanet , disgenet |
Spastic Paraplegia 31, Autosomal Dominant | REEP1 | disease | C1853247 | GermlineCausalMutation | 0.92 | orphanet , disgenet |
Spastic Paraplegia 31, Autosomal Dominant | SPAST | disease | C1853247 | GeneticVariation | 0.01 | disgenet |
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