| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Aromatase deficiency | CYP19A1 | disease | C1960539 | AlteredExpression | 0.8 | orphanet , disgenet |
| Aromatase deficiency | CYP19A1 | disease | C1960539 | CausalMutation | 0.8 | orphanet , disgenet |
| Aromatase deficiency | CYP19A1 | disease | C1960539 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
| Aromatase deficiency | CYP19A1 | disease | C1960539 | GeneticVariation | 0.8 | orphanet , disgenet |
| Aromatase deficiency | CYP19A1 | disease | C1960539 | Biomarker | 0.8 | orphanet , disgenet |
| Aromatase deficiency | BRD2 | disease | C1960539 | Biomarker | 0.02 | disgenet |
| Aromatase deficiency | ESR1 | disease | C1960539 | Biomarker | 0.01 | disgenet |
| Aromatase deficiency | SHOX | disease | C1960539 | Biomarker | 0.01 | disgenet |
| Aromatase deficiency | MAP3K1 | disease | C1960539 | GeneticVariation | 0.01 | disgenet |
| Aromatase deficiency | CYP2B6 | disease | C1960539 | GeneticVariation | 0.01 | disgenet |
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