| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Myopathy, Centronuclear, Autosomal Recessive | BIN1 | disease | C0410204 | GermlineCausalMutation | 0.73 | orphanet , disgenet |
| Myopathy, Centronuclear, Autosomal Recessive | BIN1 | disease | C0410204 | Biomarker | 0.73 | orphanet , disgenet |
| Myopathy, Centronuclear, Autosomal Recessive | BIN1 | disease | C0410204 | CausalMutation | 0.73 | orphanet , disgenet |
| Myopathy, Centronuclear, Autosomal Recessive | BIN1 | disease | C0410204 | GeneticVariation | 0.73 | orphanet , disgenet |
| Myopathy, Centronuclear, Autosomal Recessive | SPEG | disease | C0410204 | Biomarker | 0.5 | orphanet , disgenet |
| Myopathy, Centronuclear, Autosomal Recessive | SPEG | disease | C0410204 | GermlineCausalMutation | 0.5 | orphanet , disgenet |
| Myopathy, Centronuclear, Autosomal Recessive | RYR1 | disease | C0410204 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Myopathy, Centronuclear, Autosomal Recessive | TTN | disease | C0410204 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Myopathy, Centronuclear, Autosomal Recessive | AMPH | disease | C0410204 | GeneticVariation | 0.02 | disgenet |
| Myopathy, Centronuclear, Autosomal Recessive | DNM2 | disease | C0410204 | Biomarker | 0.01 | disgenet |
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