| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Myasthenic syndrome, congenital, type Id | CHRNE | disease | C1837091 | CausalMutation | 0.9 | disgenet |
| Myasthenic syndrome, congenital, type Id | CHRNE | disease | C1837091 | Biomarker | 0.9 | disgenet |
| Myasthenic syndrome, congenital, type Id | CHRNE | disease | C1837091 | GeneticVariation | 0.9 | disgenet |
| Myasthenic syndrome, congenital, type Id | RAPSN | disease | C1837091 | CausalMutation | 0.4 | disgenet |
| Myasthenic syndrome, congenital, type Id | RAPSN | disease | C1837091 | Biomarker | 0.4 | disgenet |
| Myasthenic syndrome, congenital, type Id | GFPT1 | disease | C1837091 | Biomarker | 0.3 | disgenet |
| Myasthenic syndrome, congenital, type Id | C17orf107 | disease | C1837091 | GeneticVariation | 0.1 | disgenet |
| Myasthenic syndrome, congenital, type Id | C17orf107 | disease | C1837091 | CausalMutation | 0.1 | disgenet |
| Myasthenic syndrome, congenital, type Id | MUSK | disease | C1837091 | GeneticVariation | 0.1 | disgenet |
| Myasthenic syndrome, congenital, type Id | MUSK | disease | C1837091 | CausalMutation | 0.1 | disgenet |
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