| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Wrinkly skin syndrome | ATP6V0A2 | disease | C0406587 | Biomarker | 0.73 | orphanet , disgenet |
| Wrinkly skin syndrome | ATP6V0A2 | disease | C0406587 | GermlineCausalMutation | 0.73 | orphanet , disgenet |
| Wrinkly skin syndrome | ATP6V0A2 | disease | C0406587 | GeneticVariation | 0.73 | orphanet , disgenet |
| Wrinkly skin syndrome | ATP6V0A2 | disease | C0406587 | CausalMutation | 0.73 | orphanet , disgenet |
| Wrinkly skin syndrome | KMT2A | disease | C0406587 | GeneticVariation | 0.36 | disgenet |
| Wrinkly skin syndrome | KMT2A | disease | C0406587 | Biomarker | 0.36 | disgenet |
| Wrinkly skin syndrome | KMT2A | disease | C0406587 | PosttranslationalModification | 0.36 | disgenet |
| Wrinkly skin syndrome | DCAF17 | disease | C0406587 | GeneticVariation | 0.03 | disgenet |
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