| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Potocki-Lupski syndrome | RAI1 | disease | C2931246 | GeneticVariation | 0.78 | disgenet |
| Potocki-Lupski syndrome | RAI1 | disease | C2931246 | ChromosomalRearrangement | 0.78 | disgenet |
| Potocki-Lupski syndrome | RAI1 | disease | C2931246 | Biomarker | 0.78 | disgenet |
| Potocki-Lupski syndrome | FLCN | disease | C2931246 | GeneticVariation | 0.41 | disgenet |
| Potocki-Lupski syndrome | FLCN | disease | C2931246 | CausalMutation | 0.41 | disgenet |
| Potocki-Lupski syndrome | FLCN | disease | C2931246 | Biomarker | 0.41 | disgenet |
| Potocki-Lupski syndrome | MPRIP | disease | C2931246 | CausalMutation | 0.1 | disgenet |
| Potocki-Lupski syndrome | PTLS | disease | C2931246 | GeneticVariation | 0.06 | disgenet |
| Potocki-Lupski syndrome | PTLS | disease | C2931246 | Biomarker | 0.06 | disgenet |
| Potocki-Lupski syndrome | PMP22 | disease | C2931246 | GeneticVariation | 0.01 | disgenet |
| Potocki-Lupski syndrome | RASD1 | disease | C2931246 | Biomarker | 0.01 | disgenet |
| Potocki-Lupski syndrome | TCF20 | disease | C2931246 | GeneticVariation | 0.01 | disgenet |
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