| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Schinzel-Giedion syndrome | SETBP1 | disease | C0265227 | GeneticVariation | 0.77 | orphanet , disgenet |
| Schinzel-Giedion syndrome | SETBP1 | disease | C0265227 | CausalMutation | 0.77 | orphanet , disgenet |
| Schinzel-Giedion syndrome | SETBP1 | disease | C0265227 | GermlineCausalMutation | 0.77 | orphanet , disgenet |
| Schinzel-Giedion syndrome | SETBP1 | disease | C0265227 | Biomarker | 0.77 | orphanet , disgenet |
| Schinzel-Giedion syndrome | SKI | disease | C0265227 | Biomarker | 0.3 | disgenet |
| Schinzel-Giedion syndrome | RPS6KB2 | disease | C0265227 | GeneticVariation | 0.01 | disgenet |
| Schinzel-Giedion syndrome | IL1RAPL2 | disease | C0265227 | GeneticVariation | 0.01 | disgenet |
| Schinzel-Giedion syndrome | MMP9 | disease | C0265227 | Biomarker | 0.01 | disgenet |
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