| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Muscular Dystrophy, Congenital, Megaconial Type | CHKB | disease | C1865233 | GeneticVariation | 0.93 | disgenet |
| Muscular Dystrophy, Congenital, Megaconial Type | CHKB | disease | C1865233 | CausalMutation | 0.93 | disgenet |
| Muscular Dystrophy, Congenital, Megaconial Type | CHKB | disease | C1865233 | Biomarker | 0.93 | disgenet |
| Muscular Dystrophy, Congenital, Megaconial Type | CHKB | disease | C1865233 | GermlineCausalMutation | 0.93 | disgenet |
| Muscular Dystrophy, Congenital, Megaconial Type | CHKB-CPT1B | disease | C1865233 | CausalMutation | 0.1 | disgenet |
| Muscular Dystrophy, Congenital, Megaconial Type | CHKB-CPT1B | disease | C1865233 | GeneticVariation | 0.1 | disgenet |
| Muscular Dystrophy, Congenital, Megaconial Type | CHKA | disease | C1865233 | Biomarker | 0.01 | disgenet |
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