| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Endplate Acetylcholinesterase Deficiency | COLQ | disease | C1864233 | GeneticVariation | 0.74 | disgenet |
| Endplate Acetylcholinesterase Deficiency | COLQ | disease | C1864233 | Biomarker | 0.74 | disgenet |
| Endplate Acetylcholinesterase Deficiency | COLQ | disease | C1864233 | CausalMutation | 0.74 | disgenet |
| Endplate Acetylcholinesterase Deficiency | COLQ | disease | C1864233 | Therapeutic | 0.74 | disgenet |
| Endplate Acetylcholinesterase Deficiency | MIR15A | disease | C1864233 | AlteredExpression | 0.01 | disgenet |
| Endplate Acetylcholinesterase Deficiency | IFNG | disease | C1864233 | Biomarker | 0.01 | disgenet |
| Endplate Acetylcholinesterase Deficiency | DHRS3 | disease | C1864233 | Biomarker | 0.01 | disgenet |
| Endplate Acetylcholinesterase Deficiency | MIR16-1 | disease | C1864233 | AlteredExpression | 0.01 | disgenet |
| Endplate Acetylcholinesterase Deficiency | DOK7 | disease | C1864233 | Biomarker | 0.01 | disgenet |
| Endplate Acetylcholinesterase Deficiency | CRP | disease | C1864233 | GeneticVariation | 0.01 | disgenet |
| Endplate Acetylcholinesterase Deficiency | IL2 | disease | C1864233 | Biomarker | 0.01 | disgenet |
| Endplate Acetylcholinesterase Deficiency | TRBV20OR9-2 | disease | C1864233 | Biomarker | 0.01 | disgenet |
| Endplate Acetylcholinesterase Deficiency | ACHE | disease | C1864233 | GeneticVariation | 0.01 | disgenet |
| Endplate Acetylcholinesterase Deficiency | DLEU2 | disease | C1864233 | AlteredExpression | 0.01 | disgenet |
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