| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails | COL7A1 | disease | C0268371 | CausalMutation | 0.6 | disgenet |
| Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails | COL7A1 | disease | C0268371 | Biomarker | 0.6 | disgenet |
| Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails | COL7A1 | disease | C0268371 | GeneticVariation | 0.6 | disgenet |
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