| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Myotonia Congenita | CLCN1 | disease | C0027127 | GeneticVariation | 0.9 | disgenet |
| Myotonia Congenita | CLCN1 | disease | C0027127 | Biomarker | 0.9 | disgenet |
| Myotonia Congenita | CLCN1 | disease | C0027127 | AlteredExpression | 0.9 | disgenet |
| Myotonia Congenita | CLCN1 | disease | C0027127 | CausalMutation | 0.9 | disgenet |
| Myotonia Congenita | SCN4A | disease | C0027127 | Biomarker | 0.44 | disgenet |
| Myotonia Congenita | SCN4A | disease | C0027127 | GeneticVariation | 0.44 | disgenet |
| Myotonia Congenita | LDB3 | disease | C0027127 | Biomarker | 0.2 | disgenet |
| Myotonia Congenita | CIC | disease | C0027127 | GeneticVariation | 0.03 | disgenet |
| Myotonia Congenita | CIC | disease | C0027127 | Biomarker | 0.03 | disgenet |
| Myotonia Congenita | PRRT2 | disease | C0027127 | Biomarker | 0.01 | disgenet |
| Myotonia Congenita | DMPK | disease | C0027127 | Biomarker | 0.01 | disgenet |
| Myotonia Congenita | CLC | disease | C0027127 | GeneticVariation | 0.01 | disgenet |
| Myotonia Congenita | SLC2A1 | disease | C0027127 | Biomarker | 0.01 | disgenet |
| Myotonia Congenita | MSTN | disease | C0027127 | AlteredExpression | 0.01 | disgenet |
| Myotonia Congenita | MYL1 | NA | C0027127 | NA | NA | orphanet |
| Myotonia Congenita | CCDC78 | NA | C0027127 | NA | NA | orphanet |
| Myotonia Congenita | DYSF | NA | C0027127 | NA | NA | orphanet |
| Myotonia Congenita | AGK | NA | C0027127 | NA | NA | orphanet |
| Myotonia Congenita | KLHL40 | NA | C0027127 | NA | NA | orphanet |
| Myotonia Congenita | ACTA1 | NA | C0027127 | NA | NA | orphanet |
| Myotonia Congenita | KLHL41 | NA | C0027127 | NA | NA | orphanet |
| Myotonia Congenita | RYR1 | NA | C0027127 | NA | NA | orphanet |
| Myotonia Congenita | SLC25A4 | NA | C0027127 | NA | NA | orphanet |
| Myotonia Congenita | TKFC | NA | C0027127 | NA | NA | orphanet |
| Myotonia Congenita | LMOD3 | NA | C0027127 | NA | NA | orphanet |
| Myotonia Congenita | NEB | NA | C0027127 | NA | NA | orphanet |
| Myotonia Congenita | CNTN1 | NA | C0027127 | NA | NA | orphanet |
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