| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Epidermolysis Bullosa Simplex With Pyloric Atresia | PLEC | disease | C2677349 | CausalMutation | 0.73 | orphanet , disgenet |
| Epidermolysis Bullosa Simplex With Pyloric Atresia | PLEC | disease | C2677349 | GeneticVariation | 0.73 | orphanet , disgenet |
| Epidermolysis Bullosa Simplex With Pyloric Atresia | PLEC | disease | C2677349 | Biomarker | 0.73 | orphanet , disgenet |
| Epidermolysis Bullosa Simplex With Pyloric Atresia | PLEC | disease | C2677349 | GermlineCausalMutation | 0.73 | orphanet , disgenet |
| Epidermolysis Bullosa Simplex With Pyloric Atresia | ITGB4 | disease | C2677349 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
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