| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Roifman-Chitayat Syndrome | PIK3CD | disease | C2750068 | GermlineCausalMutation | 0.3 | disgenet |
| Roifman-Chitayat Syndrome | KNSTRN | disease | C2750068 | GermlineCausalMutation | 0.3 | disgenet |
| Roifman-Chitayat Syndrome | ARPP21 | disease | C2750068 | GeneticVariation | 0.01 | disgenet |
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