| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Cerebellar hypoplasia with endosteal sclerosis | POLR3B | phenotype | C1859301 | CausalMutation | 0.4 | disgenet |
| Cerebellar hypoplasia with endosteal sclerosis | POLR3B | phenotype | C1859301 | GermlineCausalMutation | 0.4 | disgenet |
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