| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber | RYR1 | disease | C2674259 | Biomarker | 0.4 | disgenet |
| Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber | RYR1 | disease | C2674259 | CausalMutation | 0.4 | disgenet |
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