| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Ghosal Hematodiaphyseal Dysplasia | TBXAS1 | disease | C1856465 | Biomarker | 0.72 | orphanet , disgenet |
| Ghosal Hematodiaphyseal Dysplasia | TBXAS1 | disease | C1856465 | GermlineCausalMutation | 0.72 | orphanet , disgenet |
| Ghosal Hematodiaphyseal Dysplasia | TBXAS1 | disease | C1856465 | GeneticVariation | 0.72 | orphanet , disgenet |
| Ghosal Hematodiaphyseal Dysplasia | CYP2S1 | disease | C1856465 | GeneticVariation | 0.01 | disgenet |
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