Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Congenital myasthenic syndrome ib | DOK7 | disease | C1850792 | Biomarker | 0.91 | disgenet |
Congenital myasthenic syndrome ib | DOK7 | disease | C1850792 | CausalMutation | 0.91 | disgenet |
Congenital myasthenic syndrome ib | DOK7 | disease | C1850792 | GeneticVariation | 0.91 | disgenet |
Congenital myasthenic syndrome ib | GRN | disease | C1850792 | Biomarker | 0.3 | disgenet |
Congenital myasthenic syndrome ib | AGRN | disease | C1850792 | Biomarker | 0.3 | disgenet |
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