| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Spondylometaphyseal dysplasia with dentinogenesis imperfecta | TRIP11 | disease | C2745953 | CausalMutation | 0.61 | orphanet , disgenet |
| Spondylometaphyseal dysplasia with dentinogenesis imperfecta | TRIP11 | disease | C2745953 | GeneticVariation | 0.61 | orphanet , disgenet |
| Spondylometaphyseal dysplasia with dentinogenesis imperfecta | TRIP11 | disease | C2745953 | GermlineCausalMutation | 0.61 | orphanet , disgenet |
| Spondylometaphyseal dysplasia with dentinogenesis imperfecta | IFT20 | disease | C2745953 | Biomarker | 0.01 | disgenet |
| Spondylometaphyseal dysplasia with dentinogenesis imperfecta | GAL | disease | C2745953 | GeneticVariation | 0.01 | disgenet |
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