| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Mainzer-Saldino Disease | IFT140 | disease | C1849437 | GeneticVariation | 0.93 | orphanet , disgenet |
| Mainzer-Saldino Disease | IFT140 | disease | C1849437 | CausalMutation | 0.93 | orphanet , disgenet |
| Mainzer-Saldino Disease | IFT140 | disease | C1849437 | Biomarker | 0.93 | orphanet , disgenet |
| Mainzer-Saldino Disease | IFT140 | disease | C1849437 | GermlineCausalMutation | 0.93 | orphanet , disgenet |
| Mainzer-Saldino Disease | IFT172 | disease | C1849437 | Biomarker | 0.51 | orphanet , disgenet |
| Mainzer-Saldino Disease | IFT172 | disease | C1849437 | GermlineCausalMutation | 0.51 | orphanet , disgenet |
| Mainzer-Saldino Disease | WDR19 | disease | C1849437 | GeneticVariation | 0.01 | disgenet |
| Mainzer-Saldino Disease | DYNC2H1 | disease | C1849437 | Biomarker | 0.01 | disgenet |
| Mainzer-Saldino Disease | IMMT | disease | C1849437 | Biomarker | 0.01 | disgenet |
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