| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Deafness enamel hypoplasia nail defects | PEX1 | disease | C1856186 | GeneticVariation | 0.53 | orphanet , disgenet |
| Deafness enamel hypoplasia nail defects | PEX1 | disease | C1856186 | Biomarker | 0.53 | orphanet , disgenet |
| Deafness enamel hypoplasia nail defects | PEX1 | disease | C1856186 | GermlineCausalMutation | 0.53 | orphanet , disgenet |
| Deafness enamel hypoplasia nail defects | PEX6 | disease | C1856186 | GermlineCausalMutation | 0.51 | orphanet , disgenet |
| Deafness enamel hypoplasia nail defects | PEX6 | disease | C1856186 | Biomarker | 0.51 | orphanet , disgenet |
| Deafness enamel hypoplasia nail defects | PEX6 | disease | C1856186 | GeneticVariation | 0.51 | orphanet , disgenet |
| Deafness enamel hypoplasia nail defects | PEX26 | disease | C1856186 | Biomarker | 0.3 | disgenet |
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