| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Tight skin contracture syndrome, lethal | LMNA | disease | C0406585 | Biomarker | 0.7 | disgenet |
| Tight skin contracture syndrome, lethal | ZMPSTE24 | disease | C0406585 | GermlineCausalMutation | 0.7 | disgenet |
| Tight skin contracture syndrome, lethal | LMNA | disease | C0406585 | CausalMutation | 0.7 | disgenet |
| Tight skin contracture syndrome, lethal | ZMPSTE24 | disease | C0406585 | CausalMutation | 0.7 | disgenet |
| Tight skin contracture syndrome, lethal | LMNA | disease | C0406585 | GermlineCausalMutation | 0.7 | disgenet |
| Tight skin contracture syndrome, lethal | ZMPSTE24 | disease | C0406585 | Biomarker | 0.7 | disgenet |
| Tight skin contracture syndrome, lethal | SLC27A4 | disease | C0406585 | Biomarker | 0.2 | disgenet |
| Tight skin contracture syndrome, lethal | FST | disease | C0406585 | Biomarker | 0.2 | disgenet |
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