| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Absent radii and thrombocytopenia | RBM8A | disease | C0175703 | GeneticVariation | 0.77 | orphanet , disgenet |
| Absent radii and thrombocytopenia | RBM8A | disease | C0175703 | CausalMutation | 0.77 | orphanet , disgenet |
| Absent radii and thrombocytopenia | RBM8A | disease | C0175703 | Biomarker | 0.77 | orphanet , disgenet |
| Absent radii and thrombocytopenia | RBM8A | disease | C0175703 | GermlineCausalMutation | 0.77 | orphanet , disgenet |
| Absent radii and thrombocytopenia | SMOC1 | disease | C0175703 | Biomarker | 0.2 | disgenet |
| Absent radii and thrombocytopenia | GNRHR2 | disease | C0175703 | GeneticVariation | 0.1 | disgenet |
| Absent radii and thrombocytopenia | LIX1L-AS1 | disease | C0175703 | CausalMutation | 0.1 | disgenet |
| Absent radii and thrombocytopenia | THPO | disease | C0175703 | Biomarker | 0.03 | disgenet |
| Absent radii and thrombocytopenia | HOXD11 | disease | C0175703 | Biomarker | 0.01 | disgenet |
| Absent radii and thrombocytopenia | TGFB3 | disease | C0175703 | AlteredExpression | 0.01 | disgenet |
| Absent radii and thrombocytopenia | ENG | disease | C0175703 | AlteredExpression | 0.01 | disgenet |
| Absent radii and thrombocytopenia | HOXA10 | disease | C0175703 | Biomarker | 0.01 | disgenet |
| Absent radii and thrombocytopenia | HOXA11 | disease | C0175703 | GeneticVariation | 0.01 | disgenet |
| Absent radii and thrombocytopenia | JAK2 | disease | C0175703 | PosttranslationalModification | 0.01 | disgenet |
| Absent radii and thrombocytopenia | MPL | disease | C0175703 | GeneticVariation | 0.01 | disgenet |
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