Eichsfeld type congenital muscular dystrophy
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Eichsfeld type congenital muscular dystrophy | C0410180 | SELENON | Causal Pathogenic evidence from ClinVar | 11528383, 12192640, 15122708, 15668457, 15792869, 16365872, 16779558, 17951086, 18713863, 19067361, 21131290, 21670436, 23217329, 23394784, 27447704 | ClinVar |
| ACTA1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 25182138 | - |