| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Desmosterolosis | DHCR24 | disease | C1865596 | GeneticVariation | 0.79 | orphanet , disgenet |
| Desmosterolosis | DHCR24 | disease | C1865596 | AlteredExpression | 0.79 | orphanet , disgenet |
| Desmosterolosis | DHCR24 | disease | C1865596 | GermlineCausalMutation | 0.79 | orphanet , disgenet |
| Desmosterolosis | DHCR24 | disease | C1865596 | CausalMutation | 0.79 | orphanet , disgenet |
| Desmosterolosis | DHCR24 | disease | C1865596 | Biomarker | 0.79 | orphanet , disgenet |
| Desmosterolosis | DHCR7 | disease | C1865596 | Biomarker | 0.04 | disgenet |
| Desmosterolosis | DHCR7 | disease | C1865596 | GeneticVariation | 0.04 | disgenet |
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