| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Charcot-Marie-Tooth disease, X-linked, 1 | GJB1 | disease | C0393808 | CausalMutation | 1 | orphanet , disgenet |
| Charcot-Marie-Tooth disease, X-linked, 1 | GJB1 | disease | C0393808 | Biomarker | 1 | orphanet , disgenet |
| Charcot-Marie-Tooth disease, X-linked, 1 | GJB1 | disease | C0393808 | AlteredExpression | 1 | orphanet , disgenet |
| Charcot-Marie-Tooth disease, X-linked, 1 | GJB1 | disease | C0393808 | GeneticVariation | 1 | orphanet , disgenet |
| Charcot-Marie-Tooth disease, X-linked, 1 | RNMT | disease | C0393808 | GeneticVariation | 0.04 | disgenet |
| Charcot-Marie-Tooth disease, X-linked, 1 | MPZ | disease | C0393808 | GeneticVariation | 0.04 | disgenet |
| Charcot-Marie-Tooth disease, X-linked, 1 | PMP22 | disease | C0393808 | GeneticVariation | 0.03 | disgenet |
| Charcot-Marie-Tooth disease, X-linked, 1 | PMP22 | disease | C0393808 | Biomarker | 0.03 | disgenet |
| Charcot-Marie-Tooth disease, X-linked, 1 | TTR | disease | C0393808 | GeneticVariation | 0.01 | disgenet |
| Charcot-Marie-Tooth disease, X-linked, 1 | SOX10 | disease | C0393808 | Biomarker | 0.01 | disgenet |
| Charcot-Marie-Tooth disease, X-linked, 1 | TNF | disease | C0393808 | Biomarker | 0.01 | disgenet |
| Charcot-Marie-Tooth disease, X-linked, 1 | PGK1 | disease | C0393808 | GeneticVariation | 0.01 | disgenet |
| Charcot-Marie-Tooth disease, X-linked, 1 | DMPK | disease | C0393808 | GeneticVariation | 0.01 | disgenet |
| Charcot-Marie-Tooth disease, X-linked, 1 | IL6 | disease | C0393808 | Biomarker | 0.01 | disgenet |
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