| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Myotonia | SCN4A | phenotype | C0027125 | Biomarker | 0.62 | orphanet , disgenet |
| Myotonia | SCN4A | phenotype | C0027125 | CausalMutation | 0.62 | orphanet , disgenet |
| Myotonia | SCN4A | phenotype | C0027125 | GeneticVariation | 0.62 | orphanet , disgenet |
| Myotonia | DMPK | phenotype | C0027125 | Biomarker | 0.6 | disgenet |
| Myotonia | CLCN1 | phenotype | C0027125 | CausalMutation | 0.43 | disgenet |
| Myotonia | CLCN1 | phenotype | C0027125 | GeneticVariation | 0.43 | disgenet |
| Myotonia | CLCN1 | phenotype | C0027125 | Biomarker | 0.43 | disgenet |
| Myotonia | CNBP | phenotype | C0027125 | Biomarker | 0.4 | disgenet |
| Myotonia | MBNL1 | phenotype | C0027125 | Therapeutic | 0.3 | disgenet |
| Myotonia | SLC2A1 | phenotype | C0027125 | Biomarker | 0.3 | disgenet |
| Myotonia | SYNE1 | phenotype | C0027125 | Biomarker | 0.1 | disgenet |
| Myotonia | CACNA1A | phenotype | C0027125 | Biomarker | 0.1 | disgenet |
| Myotonia | EMD | phenotype | C0027125 | Biomarker | 0.1 | disgenet |
| Myotonia | LMNA | phenotype | C0027125 | Biomarker | 0.1 | disgenet |
| Myotonia | VMA21 | phenotype | C0027125 | Biomarker | 0.1 | disgenet |
| Myotonia | KCNA1 | phenotype | C0027125 | Biomarker | 0.1 | disgenet |
| Myotonia | PFKM | phenotype | C0027125 | Biomarker | 0.1 | disgenet |
| Myotonia | HINT1 | phenotype | C0027125 | Biomarker | 0.1 | disgenet |
| Myotonia | SYNE2 | phenotype | C0027125 | Biomarker | 0.1 | disgenet |
| Myotonia | FHL1 | phenotype | C0027125 | Biomarker | 0.1 | disgenet |
| Myotonia | TMEM43 | phenotype | C0027125 | Biomarker | 0.1 | disgenet |
| Myotonia | HSPG2 | phenotype | C0027125 | Biomarker | 0.1 | disgenet |
| Myotonia | LIFR | phenotype | C0027125 | Biomarker | 0.1 | disgenet |
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