Sarcotubular myopathy
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Limb-girdle muscular dystrophy type 2H | C0270968 | TRIM32 | Causal Pathogenic evidence from ClinVar | 11822024, 15786463, 16606853, 17994549, 21775502, 30823891 | ClinVar |
| ASTN2 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 11822024, 15786463, 21775502 | - | ||
| TRIM32-related limb-girdle muscular dystrophy R8 | 1878 | TRIM32 | Causal Pathogenic evidence from ClinVar | - | ClinVar |