Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Spastic paraplegia 6, autosomal dominant | NIPA1 | disease | C1838192 | Biomarker | 0.73 | orphanet , disgenet |
Spastic paraplegia 6, autosomal dominant | NIPA1 | disease | C1838192 | GeneticVariation | 0.73 | orphanet , disgenet |
Spastic paraplegia 6, autosomal dominant | NIPA1 | disease | C1838192 | CausalMutation | 0.73 | orphanet , disgenet |
Spastic paraplegia 6, autosomal dominant | NIPA1 | disease | C1838192 | AlteredExpression | 0.73 | orphanet , disgenet |
Spastic paraplegia 6, autosomal dominant | NIPA1 | disease | C1838192 | GermlineCausalMutation | 0.73 | orphanet , disgenet |
Spastic paraplegia 6, autosomal dominant | SPAST | disease | C1838192 | GeneticVariation | 0.01 | disgenet |
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