Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Spondyloenchondrodysplasia | ACP5 | disease | C0432222 | Biomarker | 0.57 | orphanet , disgenet |
Spondyloenchondrodysplasia | ACP5 | disease | C0432222 | GermlineCausalMutation | 0.57 | orphanet , disgenet |
Spondyloenchondrodysplasia | ACP5 | disease | C0432222 | GeneticVariation | 0.57 | orphanet , disgenet |
Spondyloenchondrodysplasia | GH1 | disease | C0432222 | Biomarker | 0.01 | disgenet |
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