| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Microcephalic osteodysplastic primordial dwarfism, type 1 | RNU4ATAC | disease | C1859452 | GeneticVariation | 0.7 | orphanet , disgenet |
| Microcephalic osteodysplastic primordial dwarfism, type 1 | RNU4ATAC | disease | C1859452 | Biomarker | 0.7 | orphanet , disgenet |
| Microcephalic osteodysplastic primordial dwarfism, type 1 | RNU4ATAC | disease | C1859452 | CausalMutation | 0.7 | orphanet , disgenet |
| Microcephalic osteodysplastic primordial dwarfism, type 1 | CLASP1 | disease | C1859452 | GeneticVariation | 0.1 | disgenet |
| Microcephalic osteodysplastic primordial dwarfism, type 1 | CLASP1 | disease | C1859452 | CausalMutation | 0.1 | disgenet |
| Microcephalic osteodysplastic primordial dwarfism, type 1 | LSM2 | disease | C1859452 | Biomarker | 0.01 | disgenet |
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