| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Ectodermal Dysplasia-Skin Fragility Syndrome | PKP1 | disease | C1858302 | CausalMutation | 0.78 | orphanet , disgenet |
| Ectodermal Dysplasia-Skin Fragility Syndrome | PKP1 | disease | C1858302 | Biomarker | 0.78 | orphanet , disgenet |
| Ectodermal Dysplasia-Skin Fragility Syndrome | PKP1 | disease | C1858302 | GeneticVariation | 0.78 | orphanet , disgenet |
| Ectodermal Dysplasia-Skin Fragility Syndrome | PKP1 | disease | C1858302 | GermlineCausalMutation | 0.78 | orphanet , disgenet |
| Ectodermal Dysplasia-Skin Fragility Syndrome | DSP | disease | C1858302 | Biomarker | 0.31 | disgenet |
| Ectodermal Dysplasia-Skin Fragility Syndrome | DSP | disease | C1858302 | GeneticVariation | 0.31 | disgenet |
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