| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 | PLEKHG5 | disease | C1970211 | GeneticVariation | 0.7 | disgenet |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 | PLEKHG5 | disease | C1970211 | CausalMutation | 0.7 | disgenet |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 | PLEKHG5 | disease | C1970211 | GermlineCausalMutation | 0.7 | disgenet |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 | PLEKHG5 | disease | C1970211 | Biomarker | 0.7 | disgenet |
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