| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Joubert syndrome 5 | CEP290 | disease | C1857780 | Biomarker | 0.91 | disgenet |
| Joubert syndrome 5 | CEP290 | disease | C1857780 | CausalMutation | 0.91 | disgenet |
| Joubert syndrome 5 | CEP290 | disease | C1857780 | GeneticVariation | 0.91 | disgenet |
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