| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Pena-Shokeir syndrome type 2 | ERCC5 | disease | C2931277 | GermlineCausalMutation | 0.3 | disgenet |
| Pena-Shokeir syndrome type 2 | ERCC2 | disease | C2931277 | GermlineCausalMutation | 0.3 | disgenet |
| Pena-Shokeir syndrome type 2 | ERCC1 | disease | C2931277 | GermlineCausalMutation | 0.3 | disgenet |
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