| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Schneckenbecken dysplasia | SLC35D1 | disease | C0432194 | Biomarker | 0.93 | orphanet , disgenet |
| Schneckenbecken dysplasia | SLC35D1 | disease | C0432194 | GeneticVariation | 0.93 | orphanet , disgenet |
| Schneckenbecken dysplasia | SLC35D1 | disease | C0432194 | GermlineCausalMutation | 0.93 | orphanet , disgenet |
| Schneckenbecken dysplasia | SLC35D1 | disease | C0432194 | CausalMutation | 0.93 | orphanet , disgenet |
| Schneckenbecken dysplasia | INPPL1 | disease | C0432194 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
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