| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Epidermolysis bullosa simplex with mottled pigmentation | KRT5 | disease | C0432316 | GeneticVariation | 0.78 | orphanet , disgenet |
| Epidermolysis bullosa simplex with mottled pigmentation | KRT5 | disease | C0432316 | Biomarker | 0.78 | orphanet , disgenet |
| Epidermolysis bullosa simplex with mottled pigmentation | KRT5 | disease | C0432316 | CausalMutation | 0.78 | orphanet , disgenet |
| Epidermolysis bullosa simplex with mottled pigmentation | KRT14 | disease | C0432316 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Epidermolysis bullosa simplex with mottled pigmentation | NAT9 | disease | C0432316 | GeneticVariation | 0.03 | disgenet |
| Epidermolysis bullosa simplex with mottled pigmentation | NAT9 | disease | C0432316 | Biomarker | 0.03 | disgenet |
| Epidermolysis bullosa simplex with mottled pigmentation | KRT1 | disease | C0432316 | GeneticVariation | 0.01 | disgenet |
| Epidermolysis bullosa simplex with mottled pigmentation | EXPH5 | disease | C0432316 | Biomarker | 0.01 | disgenet |
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