| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Ovotesticular Disorders of Sex Development | SRY | disease | C2748895 | Biomarker | 0.8 | orphanet , disgenet |
| Ovotesticular Disorders of Sex Development | SRY | disease | C2748895 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
| Ovotesticular Disorders of Sex Development | SRY | disease | C2748895 | GeneticVariation | 0.8 | orphanet , disgenet |
| Ovotesticular Disorders of Sex Development | SRY | disease | C2748895 | CausalMutation | 0.8 | orphanet , disgenet |
| Ovotesticular Disorders of Sex Development | SRY | disease | C2748895 | AlteredExpression | 0.8 | orphanet , disgenet |
| Ovotesticular Disorders of Sex Development | SOX9 | disease | C2748895 | Biomarker | 0.35 | orphanet , disgenet |
| Ovotesticular Disorders of Sex Development | SOX9 | disease | C2748895 | GeneticVariation | 0.35 | orphanet , disgenet |
| Ovotesticular Disorders of Sex Development | SOX9 | disease | C2748895 | GermlineCausalMutation | 0.35 | orphanet , disgenet |
| Ovotesticular Disorders of Sex Development | NR5A1 | disease | C2748895 | Biomarker | 0.34 | orphanet , disgenet |
| Ovotesticular Disorders of Sex Development | NR5A1 | disease | C2748895 | GermlineCausalMutation | 0.34 | orphanet , disgenet |
| Ovotesticular Disorders of Sex Development | NR5A1 | disease | C2748895 | GeneticVariation | 0.34 | orphanet , disgenet |
| Ovotesticular Disorders of Sex Development | RSPO1 | disease | C2748895 | GeneticVariation | 0.02 | disgenet |
| Ovotesticular Disorders of Sex Development | ESR2 | disease | C2748895 | Biomarker | 0.01 | disgenet |
| Ovotesticular Disorders of Sex Development | DMRT1 | disease | C2748895 | Biomarker | 0.01 | disgenet |
| Ovotesticular Disorders of Sex Development | SOX8 | disease | C2748895 | Biomarker | 0.01 | disgenet |
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