Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Spondyloepimetaphyseal dysplasia, sponastrime type | TONSL | disease | C1300260 | GeneticVariation | 0.32 | orphanet , disgenet |
Spondyloepimetaphyseal dysplasia, sponastrime type | TONSL | disease | C1300260 | GermlineCausalMutation | 0.32 | orphanet , disgenet |
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