| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Spondyloepimetaphyseal Dysplasia, Pakistani Type | PAPSS2 | disease | C2748515 | Biomarker | 0.92 | disgenet |
| Spondyloepimetaphyseal Dysplasia, Pakistani Type | PAPSS2 | disease | C2748515 | GermlineCausalMutation | 0.92 | disgenet |
| Spondyloepimetaphyseal Dysplasia, Pakistani Type | PAPSS2 | disease | C2748515 | CausalMutation | 0.92 | disgenet |
| Spondyloepimetaphyseal Dysplasia, Pakistani Type | PAPSS2 | disease | C2748515 | GeneticVariation | 0.92 | disgenet |
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