| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Congenital myasthenic syndrome with episodic apnea | CHAT | disease | C0393929 | CausalMutation | 0.91 | disgenet |
| Congenital myasthenic syndrome with episodic apnea | CHAT | disease | C0393929 | GeneticVariation | 0.91 | disgenet |
| Congenital myasthenic syndrome with episodic apnea | CHAT | disease | C0393929 | Biomarker | 0.91 | disgenet |
| Congenital myasthenic syndrome with episodic apnea | SLC5A7 | disease | C0393929 | Biomarker | 0.3 | disgenet |
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