| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Epidermolysis Bullosa Simplex Superficialis | COL7A1 | disease | C1843477 | GermlineCausalMutation | 0.3 | disgenet |
| Epidermolysis Bullosa Simplex Superficialis | NECTIN1 | disease | C1843477 | AlteredExpression | 0.01 | disgenet |
| Epidermolysis Bullosa Simplex Superficialis | KHDRBS1 | disease | C1843477 | AlteredExpression | 0.01 | disgenet |
| Epidermolysis Bullosa Simplex Superficialis | DCTN4 | disease | C1843477 | AlteredExpression | 0.01 | disgenet |
| Epidermolysis Bullosa Simplex Superficialis | GTF2H1 | disease | C1843477 | AlteredExpression | 0.01 | disgenet |
| Epidermolysis Bullosa Simplex Superficialis | ATP6AP2 | disease | C1843477 | AlteredExpression | 0.01 | disgenet |
| Epidermolysis Bullosa Simplex Superficialis | SQSTM1 | disease | C1843477 | Biomarker | 0.01 | disgenet |
| Epidermolysis Bullosa Simplex Superficialis | ATG5 | disease | C1843477 | Biomarker | 0.01 | disgenet |
| Epidermolysis Bullosa Simplex Superficialis | NUP62 | disease | C1843477 | AlteredExpression | 0.01 | disgenet |
| Epidermolysis Bullosa Simplex Superficialis | ATG7 | disease | C1843477 | GeneticVariation | 0.01 | disgenet |
| Epidermolysis Bullosa Simplex Superficialis | NR1I2 | disease | C1843477 | AlteredExpression | 0.01 | disgenet |
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