| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Male Pseudohermaphroditism due to Deficiency of Testicular 17,20-Desmolase | AKR1C2 | disease | C1839840 | GeneticVariation | 0.7 | disgenet |
| Male Pseudohermaphroditism due to Deficiency of Testicular 17,20-Desmolase | AKR1C2 | disease | C1839840 | Biomarker | 0.7 | disgenet |
| Male Pseudohermaphroditism due to Deficiency of Testicular 17,20-Desmolase | AKR1C2 | disease | C1839840 | CausalMutation | 0.7 | disgenet |
| Male Pseudohermaphroditism due to Deficiency of Testicular 17,20-Desmolase | AKR1C2 | disease | C1839840 | GermlineCausalMutation | 0.7 | disgenet |
| Male Pseudohermaphroditism due to Deficiency of Testicular 17,20-Desmolase | AKR1C4 | disease | C1839840 | SusceptibilityMutation | 0.6 | disgenet |
| Male Pseudohermaphroditism due to Deficiency of Testicular 17,20-Desmolase | AKR1C4 | disease | C1839840 | GermlineModifyingMutation | 0.6 | disgenet |
| Male Pseudohermaphroditism due to Deficiency of Testicular 17,20-Desmolase | AKR1C4 | disease | C1839840 | Biomarker | 0.6 | disgenet |
| Male Pseudohermaphroditism due to Deficiency of Testicular 17,20-Desmolase | HMBOX1 | disease | C1839840 | AlteredExpression | 0.01 | disgenet |
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