| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Anauxetic dysplasia | POP1 | disease | C1846796 | Biomarker | 0.53 | orphanet , disgenet |
| Anauxetic dysplasia | POP1 | disease | C1846796 | GermlineCausalMutation | 0.53 | orphanet , disgenet |
| Anauxetic dysplasia | POP1 | disease | C1846796 | GeneticVariation | 0.53 | orphanet , disgenet |
| Anauxetic dysplasia | RMRP | disease | C1846796 | CausalMutation | 0.45 | orphanet , disgenet |
| Anauxetic dysplasia | RMRP | disease | C1846796 | Biomarker | 0.45 | orphanet , disgenet |
| Anauxetic dysplasia | RMRP | disease | C1846796 | GeneticVariation | 0.45 | orphanet , disgenet |
| Anauxetic dysplasia | RMRP | disease | C1846796 | AlteredExpression | 0.45 | orphanet , disgenet |
| Anauxetic dysplasia | NEPRO | NA | C1846796 | NA | NA | orphanet |
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