| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant | DYNC1H1 | disease | C1834690 | GeneticVariation | 0.72 | orphanet , disgenet |
| Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant | DYNC1H1 | disease | C1834690 | GermlineCausalMutation | 0.72 | orphanet , disgenet |
| Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant | DYNC1H1 | disease | C1834690 | CausalMutation | 0.72 | orphanet , disgenet |
| Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant | DYNC1H1 | disease | C1834690 | Biomarker | 0.72 | orphanet , disgenet |
| Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant | BICD2 | disease | C1834690 | GeneticVariation | 0.01 | orphanet , disgenet |
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