| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Bethlem myopathy | COL6A1 | disease | C1834674 | CausalMutation | 1 | orphanet , disgenet |
| Bethlem myopathy | COL6A1 | disease | C1834674 | GeneticVariation | 1 | orphanet , disgenet |
| Bethlem myopathy | COL6A1 | disease | C1834674 | Biomarker | 1 | orphanet , disgenet |
| Bethlem myopathy | COL6A3 | disease | C1834674 | GeneticVariation | 0.8 | orphanet , disgenet |
| Bethlem myopathy | COL6A3 | disease | C1834674 | Biomarker | 0.8 | orphanet , disgenet |
| Bethlem myopathy | COL6A3 | disease | C1834674 | CausalMutation | 0.8 | orphanet , disgenet |
| Bethlem myopathy | COL6A2 | disease | C1834674 | Biomarker | 0.79 | orphanet , disgenet |
| Bethlem myopathy | COL6A2 | disease | C1834674 | CausalMutation | 0.79 | orphanet , disgenet |
| Bethlem myopathy | COL6A2 | disease | C1834674 | GeneticVariation | 0.79 | orphanet , disgenet |
| Bethlem myopathy | COL12A1 | disease | C1834674 | Biomarker | 0.61 | orphanet , disgenet |
| Bethlem myopathy | COL12A1 | disease | C1834674 | GermlineCausalMutation | 0.61 | orphanet , disgenet |
| Bethlem myopathy | LMNA | disease | C1834674 | Biomarker | 0.02 | disgenet |
| Bethlem myopathy | DMD | disease | C1834674 | Biomarker | 0.02 | disgenet |
| Bethlem myopathy | ANO5 | disease | C1834674 | Biomarker | 0.02 | disgenet |
| Bethlem myopathy | DMD | disease | C1834674 | GeneticVariation | 0.02 | disgenet |
| Bethlem myopathy | DAG1 | disease | C1834674 | GeneticVariation | 0.01 | disgenet |
| Bethlem myopathy | CAPN3 | disease | C1834674 | Biomarker | 0.01 | disgenet |
| Bethlem myopathy | COL6A5 | disease | C1834674 | GeneticVariation | 0.01 | disgenet |
| Bethlem myopathy | VWF | disease | C1834674 | GeneticVariation | 0.01 | disgenet |
| Bethlem myopathy | SGCG | disease | C1834674 | Biomarker | 0.01 | disgenet |
| Bethlem myopathy | ADIPOQ | disease | C1834674 | Biomarker | 0.01 | disgenet |
| Bethlem myopathy | LEP | disease | C1834674 | AlteredExpression | 0.01 | disgenet |
| Bethlem myopathy | FKRP | disease | C1834674 | Biomarker | 0.01 | disgenet |
| Bethlem myopathy | LAMB1 | disease | C1834674 | AlteredExpression | 0.01 | disgenet |
| Bethlem myopathy | HSPG2 | disease | C1834674 | Biomarker | 0.01 | disgenet |
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