Centronuclear myopathy with fiber-type disproportion
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION | C4540345 | MAP3K20 | Causal Pathogenic evidence from ClinVar | 27816943, 30237576 | ClinVar |
| MAP3K20-AS1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |