| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Roifman syndrome | RNU4ATAC | disease | C1846059 | CausalMutation | 0.74 | orphanet , disgenet |
| Roifman syndrome | RNU4ATAC | disease | C1846059 | Biomarker | 0.74 | orphanet , disgenet |
| Roifman syndrome | RNU4ATAC | disease | C1846059 | GermlineCausalMutation | 0.74 | orphanet , disgenet |
| Roifman syndrome | RNU4ATAC | disease | C1846059 | GeneticVariation | 0.74 | orphanet , disgenet |
| Roifman syndrome | CLASP1 | disease | C1846059 | GeneticVariation | 0.1 | disgenet |
| Roifman syndrome | CLASP1 | disease | C1846059 | CausalMutation | 0.1 | disgenet |
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