| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Harlequin type ichthyosis | ABCA12 | disease | C0598226 | CausalMutation | 0.9 | disgenet |
| Harlequin type ichthyosis | ABCA12 | disease | C0598226 | GeneticVariation | 0.9 | disgenet |
| Harlequin type ichthyosis | ABCA12 | disease | C0598226 | Biomarker | 0.9 | disgenet |
| Harlequin type ichthyosis | ABCA12 | disease | C0598226 | GermlineCausalMutation | 0.9 | disgenet |
| Harlequin type ichthyosis | PIGA | disease | C0598226 | Biomarker | 0.2 | disgenet |
| Harlequin type ichthyosis | CST6 | disease | C0598226 | Biomarker | 0.2 | disgenet |
| Harlequin type ichthyosis | PRSS8 | disease | C0598226 | Biomarker | 0.2 | disgenet |
| Harlequin type ichthyosis | SNHG31 | disease | C0598226 | CausalMutation | 0.1 | disgenet |
| Harlequin type ichthyosis | SNHG31 | disease | C0598226 | GeneticVariation | 0.1 | disgenet |
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