| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Pretibial epidermolysis bullosa | COL7A1 | disease | C0432321 | GermlineCausalMutation | 0.75 | disgenet |
| Pretibial epidermolysis bullosa | COL7A1 | disease | C0432321 | GeneticVariation | 0.75 | disgenet |
| Pretibial epidermolysis bullosa | COL7A1 | disease | C0432321 | CausalMutation | 0.75 | disgenet |
| Pretibial epidermolysis bullosa | COL7A1 | disease | C0432321 | Biomarker | 0.75 | disgenet |
| Pretibial epidermolysis bullosa | CD151 | disease | C0432321 | Biomarker | 0.1 | disgenet |
| Pretibial epidermolysis bullosa | COL2A1 | disease | C0432321 | Biomarker | 0.1 | disgenet |
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