| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| 46, XX Testicular Disorders of Sex Development | SOX9 | disease | C2936419 | Biomarker | 0.37 | disgenet |
| 46, XX Testicular Disorders of Sex Development | SOX9 | disease | C2936419 | GeneticVariation | 0.37 | disgenet |
| 46, XX Testicular Disorders of Sex Development | SOX9 | disease | C2936419 | GermlineCausalMutation | 0.37 | disgenet |
| 46, XX Testicular Disorders of Sex Development | SOX9 | disease | C2936419 | AlteredExpression | 0.37 | disgenet |
| 46, XX Testicular Disorders of Sex Development | SOX3 | disease | C2936419 | GermlineCausalMutation | 0.31 | disgenet |
| 46, XX Testicular Disorders of Sex Development | NR5A1 | disease | C2936419 | GermlineCausalMutation | 0.31 | disgenet |
| 46, XX Testicular Disorders of Sex Development | SOX3 | disease | C2936419 | AlteredExpression | 0.31 | disgenet |
| 46, XX Testicular Disorders of Sex Development | NR0B1 | disease | C2936419 | ChromosomalRearrangement | 0.31 | disgenet |
| 46, XX Testicular Disorders of Sex Development | NR0B1 | disease | C2936419 | AlteredExpression | 0.31 | disgenet |
| 46, XX Testicular Disorders of Sex Development | NR5A1 | disease | C2936419 | GeneticVariation | 0.31 | disgenet |
| 46, XX Testicular Disorders of Sex Development | SRY | disease | C2936419 | GeneticVariation | 0.1 | disgenet |
| 46, XX Testicular Disorders of Sex Development | SRY | disease | C2936419 | Biomarker | 0.1 | disgenet |
| 46, XX Testicular Disorders of Sex Development | SRY | disease | C2936419 | AlteredExpression | 0.1 | disgenet |
| 46, XX Testicular Disorders of Sex Development | RSPO1 | disease | C2936419 | GeneticVariation | 0.03 | orphanet , disgenet |
| 46, XX Testicular Disorders of Sex Development | RSPO1 | disease | C2936419 | AlteredExpression | 0.03 | orphanet , disgenet |
| 46, XX Testicular Disorders of Sex Development | AR | disease | C2936419 | GeneticVariation | 0.01 | disgenet |
| 46, XX Testicular Disorders of Sex Development | SOX10 | disease | C2936419 | Biomarker | 0.01 | disgenet |
| 46, XX Testicular Disorders of Sex Development | CDIPT | disease | C2936419 | GeneticVariation | 0.01 | disgenet |
| 46, XX Testicular Disorders of Sex Development | FOXL2 | disease | C2936419 | Biomarker | 0.01 | disgenet |
| 46, XX Testicular Disorders of Sex Development | STS | disease | C2936419 | GeneticVariation | 0.01 | disgenet |
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