Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Spondyloepimetaphyseal dysplasia, Genevieve type | NANS | disease | C1864872 | GermlineCausalMutation | 0.7 | disgenet |
Spondyloepimetaphyseal dysplasia, Genevieve type | NANS | disease | C1864872 | GeneticVariation | 0.7 | disgenet |
Spondyloepimetaphyseal dysplasia, Genevieve type | NANS | disease | C1864872 | CausalMutation | 0.7 | disgenet |
Spondyloepimetaphyseal dysplasia, Genevieve type | NANS | disease | C1864872 | Biomarker | 0.7 | disgenet |
Spondyloepimetaphyseal dysplasia, Genevieve type | TRIM14 | disease | C1864872 | CausalMutation | 0.1 | disgenet |
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