| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant | COL7A1 | disease | C2673611 | GermlineCausalMutation | 0.6 | disgenet |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant | COL7A1 | disease | C2673611 | CausalMutation | 0.6 | disgenet |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant | COL7A1 | disease | C2673611 | Biomarker | 0.6 | disgenet |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant | MMP1 | disease | C2673611 | GermlineModifyingMutation | 0.3 | disgenet |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant | GRIP1 | disease | C2673611 | Biomarker | 0.2 | disgenet |
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