| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Epidermolytic Hyperkeratoses | KRT1 | disease | C0079153 | GermlineCausalMutation | 1 | orphanet , disgenet |
| Epidermolytic Hyperkeratoses | KRT1 | disease | C0079153 | AlteredExpression | 1 | orphanet , disgenet |
| Epidermolytic Hyperkeratoses | KRT1 | disease | C0079153 | GeneticVariation | 1 | orphanet , disgenet |
| Epidermolytic Hyperkeratoses | KRT1 | disease | C0079153 | Biomarker | 1 | orphanet , disgenet |
| Epidermolytic Hyperkeratoses | KRT1 | disease | C0079153 | CausalMutation | 1 | orphanet , disgenet |
| Epidermolytic Hyperkeratoses | KRT10 | disease | C0079153 | CausalMutation | 0.8 | orphanet , disgenet |
| Epidermolytic Hyperkeratoses | KRT10 | disease | C0079153 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
| Epidermolytic Hyperkeratoses | KRT10 | disease | C0079153 | Biomarker | 0.8 | orphanet , disgenet |
| Epidermolytic Hyperkeratoses | KRT10 | disease | C0079153 | GeneticVariation | 0.8 | orphanet , disgenet |
| Epidermolytic Hyperkeratoses | GJB3 | disease | C0079153 | Biomarker | 0.3 | disgenet |
| Epidermolytic Hyperkeratoses | GJB4 | disease | C0079153 | Biomarker | 0.3 | disgenet |
| Epidermolytic Hyperkeratoses | ERCC2 | disease | C0079153 | Biomarker | 0.3 | disgenet |
| Epidermolytic Hyperkeratoses | JUP | disease | C0079153 | Biomarker | 0.2 | disgenet |
| Epidermolytic Hyperkeratoses | KRT2 | disease | C0079153 | GeneticVariation | 0.15 | orphanet , disgenet |
| Epidermolytic Hyperkeratoses | KRT2 | disease | C0079153 | Biomarker | 0.15 | orphanet , disgenet |
| Epidermolytic Hyperkeratoses | KRT2 | disease | C0079153 | AlteredExpression | 0.15 | orphanet , disgenet |
| Epidermolytic Hyperkeratoses | TMEM99 | disease | C0079153 | CausalMutation | 0.1 | disgenet |
| Epidermolytic Hyperkeratoses | COL7A1 | disease | C0079153 | GeneticVariation | 0.1 | disgenet |
| Epidermolytic Hyperkeratoses | DSP | disease | C0079153 | Biomarker | 0.1 | disgenet |
| Epidermolytic Hyperkeratoses | KRT9 | disease | C0079153 | GeneticVariation | 0.03 | disgenet |
| Epidermolytic Hyperkeratoses | ALOXE3 | disease | C0079153 | GeneticVariation | 0.02 | disgenet |
| Epidermolytic Hyperkeratoses | FLG | disease | C0079153 | GeneticVariation | 0.02 | orphanet , disgenet |
| Epidermolytic Hyperkeratoses | FLG | disease | C0079153 | Biomarker | 0.02 | orphanet , disgenet |
| Epidermolytic Hyperkeratoses | GAL | disease | C0079153 | Biomarker | 0.01 | disgenet |
| Epidermolytic Hyperkeratoses | KRTAP5-1 | disease | C0079153 | GeneticVariation | 0.01 | disgenet |
| Epidermolytic Hyperkeratoses | TGM1 | disease | C0079153 | GeneticVariation | 0.01 | disgenet |
| Epidermolytic Hyperkeratoses | KRT126P | disease | C0079153 | GeneticVariation | 0.01 | disgenet |
| Epidermolytic Hyperkeratoses | ALOX12B | disease | C0079153 | GeneticVariation | 0.01 | disgenet |
| Epidermolytic Hyperkeratoses | GJB2 | disease | C0079153 | GeneticVariation | 0.01 | disgenet |
| Epidermolytic Hyperkeratoses | KLKB1 | disease | C0079153 | GeneticVariation | 0.01 | disgenet |
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