| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Myoclonic dystonia | SGCE | disease | C1834570 | CausalMutation | 1 | orphanet , disgenet |
| Myoclonic dystonia | SGCE | disease | C1834570 | AlteredExpression | 1 | orphanet , disgenet |
| Myoclonic dystonia | SGCE | disease | C1834570 | GermlineCausalMutation | 1 | orphanet , disgenet |
| Myoclonic dystonia | SGCE | disease | C1834570 | GeneticVariation | 1 | orphanet , disgenet |
| Myoclonic dystonia | SGCE | disease | C1834570 | Biomarker | 1 | orphanet , disgenet |
| Myoclonic dystonia | DRD2 | disease | C1834570 | GeneticVariation | 0.57 | orphanet , disgenet |
| Myoclonic dystonia | DRD2 | disease | C1834570 | Biomarker | 0.57 | orphanet , disgenet |
| Myoclonic dystonia | KCTD17 | disease | C1834570 | GermlineCausalMutation | 0.51 | orphanet , disgenet |
| Myoclonic dystonia | KCTD17 | disease | C1834570 | Biomarker | 0.51 | orphanet , disgenet |
| Myoclonic dystonia | KCTD17 | disease | C1834570 | GeneticVariation | 0.51 | orphanet , disgenet |
| Myoclonic dystonia | TOR1A | disease | C1834570 | GeneticVariation | 0.39 | orphanet , disgenet |
| Myoclonic dystonia | DYT15 | disease | C1834570 | GeneticVariation | 0.32 | orphanet , disgenet |
| Myoclonic dystonia | DYT15 | disease | C1834570 | ChromosomalRearrangement | 0.32 | orphanet , disgenet |
| Myoclonic dystonia | GCH1 | disease | C1834570 | Biomarker | 0.05 | disgenet |
| Myoclonic dystonia | CACNA1B | disease | C1834570 | GeneticVariation | 0.03 | disgenet |
| Myoclonic dystonia | PRRT2 | disease | C1834570 | Biomarker | 0.01 | disgenet |
| Myoclonic dystonia | DBH | disease | C1834570 | GeneticVariation | 0.01 | disgenet |
| Myoclonic dystonia | POLR1C | disease | C1834570 | Biomarker | 0.01 | disgenet |
| Myoclonic dystonia | ADCY5 | disease | C1834570 | GeneticVariation | 0.01 | disgenet |
| Myoclonic dystonia | ATP1A3 | disease | C1834570 | Biomarker | 0.01 | disgenet |
| Myoclonic dystonia | LRP2 | disease | C1834570 | Biomarker | 0.01 | disgenet |
| Myoclonic dystonia | SLITRK1 | disease | C1834570 | GeneticVariation | 0.01 | disgenet |
| Myoclonic dystonia | MCF2L | disease | C1834570 | Biomarker | 0.01 | disgenet |
| Myoclonic dystonia | RELN | disease | C1834570 | GeneticVariation | 0.01 | disgenet |
| Myoclonic dystonia | CAMP | disease | C1834570 | GeneticVariation | 0.01 | disgenet |
| Myoclonic dystonia | NKX2-1 | disease | C1834570 | Biomarker | 0.01 | disgenet |
| Myoclonic dystonia | SGCZ | disease | C1834570 | GeneticVariation | 0.01 | disgenet |
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