| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Epidermolysis Bullosa Simplex with Migratory Circinate Erythema | KRT5 | disease | C1836284 | GermlineCausalMutation | 0.62 | orphanet , disgenet |
| Epidermolysis Bullosa Simplex with Migratory Circinate Erythema | KRT5 | disease | C1836284 | CausalMutation | 0.62 | orphanet , disgenet |
| Epidermolysis Bullosa Simplex with Migratory Circinate Erythema | KRT5 | disease | C1836284 | Biomarker | 0.62 | orphanet , disgenet |
| Epidermolysis Bullosa Simplex with Migratory Circinate Erythema | KRT5 | disease | C1836284 | GeneticVariation | 0.62 | orphanet , disgenet |
| Epidermolysis Bullosa Simplex with Migratory Circinate Erythema | NAT9 | disease | C1836284 | GeneticVariation | 0.01 | disgenet |
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