| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia | NKX3-2 | disease | C2750066 | GermlineCausalMutation | 0.72 | orphanet , disgenet |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia | NKX3-2 | disease | C2750066 | GeneticVariation | 0.72 | orphanet , disgenet |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia | NKX3-2 | disease | C2750066 | Biomarker | 0.72 | orphanet , disgenet |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia | NKX3-2 | disease | C2750066 | CausalMutation | 0.72 | orphanet , disgenet |
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