| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Neonatal progeroid syndrome | POLR3A | disease | C0406586 | GermlineCausalMutation | 0.72 | orphanet , disgenet |
| Neonatal progeroid syndrome | POLR3A | disease | C0406586 | CausalMutation | 0.72 | orphanet , disgenet |
| Neonatal progeroid syndrome | POLR3A | disease | C0406586 | GeneticVariation | 0.72 | orphanet , disgenet |
| Neonatal progeroid syndrome | POLR3A | disease | C0406586 | Biomarker | 0.72 | orphanet , disgenet |
| Neonatal progeroid syndrome | POLR3GL | disease | C0406586 | Biomarker | 0.01 | disgenet |
| Neonatal progeroid syndrome | LMNA | disease | C0406586 | GeneticVariation | 0.01 | disgenet |
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