| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Epidermolysa bullosa simplex and limb girdle muscular dystrophy | PLEC | disease | C2931072 | GeneticVariation | 1 | orphanet , disgenet |
| Epidermolysa bullosa simplex and limb girdle muscular dystrophy | PLEC | disease | C2931072 | CausalMutation | 1 | orphanet , disgenet |
| Epidermolysa bullosa simplex and limb girdle muscular dystrophy | PLEC | disease | C2931072 | GermlineCausalMutation | 1 | orphanet , disgenet |
| Epidermolysa bullosa simplex and limb girdle muscular dystrophy | PLEC | disease | C2931072 | Biomarker | 1 | orphanet , disgenet |
| Epidermolysa bullosa simplex and limb girdle muscular dystrophy | NAT9 | disease | C2931072 | GeneticVariation | 0.02 | disgenet |
| Epidermolysa bullosa simplex and limb girdle muscular dystrophy | DES | disease | C2931072 | GeneticVariation | 0.02 | disgenet |
| Epidermolysa bullosa simplex and limb girdle muscular dystrophy | TBX1 | disease | C2931072 | GeneticVariation | 0.01 | disgenet |
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