| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| 17-Hydroxysteroid Dehydrogenase Deficiency | HSD17B3 | disease | C0268296 | GeneticVariation | 0.79 | orphanet , disgenet |
| 17-Hydroxysteroid Dehydrogenase Deficiency | HSD17B3 | disease | C0268296 | Biomarker | 0.79 | orphanet , disgenet |
| 17-Hydroxysteroid Dehydrogenase Deficiency | HSD17B3 | disease | C0268296 | CausalMutation | 0.79 | orphanet , disgenet |
| 17-Hydroxysteroid Dehydrogenase Deficiency | HSD17B3 | disease | C0268296 | GermlineCausalMutation | 0.79 | orphanet , disgenet |
| 17-Hydroxysteroid Dehydrogenase Deficiency | HSD17B7 | disease | C0268296 | Biomarker | 0.01 | disgenet |
| 17-Hydroxysteroid Dehydrogenase Deficiency | HSD17B13 | disease | C0268296 | Biomarker | 0.01 | disgenet |
| 17-Hydroxysteroid Dehydrogenase Deficiency | DHRS11 | disease | C0268296 | Biomarker | 0.01 | disgenet |
| 17-Hydroxysteroid Dehydrogenase Deficiency | DECR1 | disease | C0268296 | GeneticVariation | 0.01 | disgenet |
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