| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Epidermolysis Bullosa Simplex, Autosomal Recessive | DST | disease | C1832926 | GeneticVariation | 0.32 | disgenet |
| Epidermolysis Bullosa Simplex, Autosomal Recessive | DST | disease | C1832926 | Biomarker | 0.32 | disgenet |
| Epidermolysis Bullosa Simplex, Autosomal Recessive | KRT5 | disease | C1832926 | Biomarker | 0.31 | disgenet |
| Epidermolysis Bullosa Simplex, Autosomal Recessive | KRT5 | disease | C1832926 | GeneticVariation | 0.31 | disgenet |
| Epidermolysis Bullosa Simplex, Autosomal Recessive | KRT14 | disease | C1832926 | Biomarker | 0.3 | orphanet , disgenet |
| Epidermolysis Bullosa Simplex, Autosomal Recessive | PLEC | disease | C1832926 | GeneticVariation | 0.04 | disgenet |
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