| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Spondyloepimetaphyseal Dysplasia, Shohat Type | DDRGK1 | disease | C1865185 | GermlineCausalMutation | 0.41 | disgenet |
| Spondyloepimetaphyseal Dysplasia, Shohat Type | DDRGK1 | disease | C1865185 | CausalMutation | 0.41 | disgenet |
| Spondyloepimetaphyseal Dysplasia, Shohat Type | DDRGK1 | disease | C1865185 | GeneticVariation | 0.41 | disgenet |
| Spondyloepimetaphyseal Dysplasia, Shohat Type | COL2A1 | disease | C1865185 | Biomarker | 0.01 | disgenet |
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