| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Joubert syndrome 4 | NPHP1 | disease | C1846790 | GermlineCausalMutation | 0.6 | disgenet |
| Joubert syndrome 4 | NPHP1 | disease | C1846790 | Biomarker | 0.6 | disgenet |
| Joubert syndrome 4 | RPGRIP1L | disease | C1846790 | GermlineCausalMutation | 0.3 | disgenet |
| Joubert syndrome 4 | TMEM237 | disease | C1846790 | GermlineCausalMutation | 0.3 | disgenet |
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