| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Congenital amegakaryocytic thrombocytopenia | MPL | disease | C1327915 | Biomarker | 1 | orphanet , disgenet |
| Congenital amegakaryocytic thrombocytopenia | MPL | disease | C1327915 | GeneticVariation | 1 | orphanet , disgenet |
| Congenital amegakaryocytic thrombocytopenia | MPL | disease | C1327915 | GermlineCausalMutation | 1 | orphanet , disgenet |
| Congenital amegakaryocytic thrombocytopenia | MPL | disease | C1327915 | CausalMutation | 1 | orphanet , disgenet |
| Congenital amegakaryocytic thrombocytopenia | MPL | disease | C1327915 | AlteredExpression | 1 | orphanet , disgenet |
| Congenital amegakaryocytic thrombocytopenia | THPO | disease | C1327915 | GeneticVariation | 0.09 | orphanet , disgenet |
| Congenital amegakaryocytic thrombocytopenia | THPO | disease | C1327915 | Biomarker | 0.09 | orphanet , disgenet |
| Congenital amegakaryocytic thrombocytopenia | THPO | disease | C1327915 | AlteredExpression | 0.09 | orphanet , disgenet |
| Congenital amegakaryocytic thrombocytopenia | RUNX1 | disease | C1327915 | GeneticVariation | 0.01 | disgenet |
| Congenital amegakaryocytic thrombocytopenia | IL3 | disease | C1327915 | GeneticVariation | 0.01 | disgenet |
| Congenital amegakaryocytic thrombocytopenia | CD34 | disease | C1327915 | Biomarker | 0.01 | disgenet |
| Congenital amegakaryocytic thrombocytopenia | HOXA11 | disease | C1327915 | GeneticVariation | 0.01 | disgenet |
| Congenital amegakaryocytic thrombocytopenia | MECOM | disease | C1327915 | Biomarker | 0.01 | disgenet |
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