| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Smith-McCort Dysplasia | DYM | disease | C1846431 | GeneticVariation | 0.82 | orphanet , disgenet |
| Smith-McCort Dysplasia | DYM | disease | C1846431 | Biomarker | 0.82 | orphanet , disgenet |
| Smith-McCort Dysplasia | DYM | disease | C1846431 | GermlineCausalMutation | 0.82 | orphanet , disgenet |
| Smith-McCort Dysplasia | RAB33B | disease | C1846431 | GeneticVariation | 0.32 | orphanet , disgenet |
| Smith-McCort Dysplasia | RAB33B | disease | C1846431 | GermlineCausalMutation | 0.32 | orphanet , disgenet |
| Smith-McCort Dysplasia | CXCL17 | disease | C1846431 | GeneticVariation | 0.01 | disgenet |
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