Myofibrillar myopathy
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| MYOFIBRILLAR MYOPATHY | DES | Causal | CTD Disgenet GWAS catalog | ||
| FLNC | Causal | ClinGen Disgenet GWAS catalog | |||
| LDB3 | Causal | — | CTD Disgenet | ||
| MYOT | Causal | — | Disgenet | ||
| BAG3 | Unknown | CTD ClinGen Disgenet GWAS catalog | |||
| CRYAB | Unknown | — | Disgenet | ||
| DNAJB6 | Unknown | — | Disgenet | ||
| DNM2 | Unknown | — | Disgenet | ||
| KY | Unknown | — | CTD Disgenet | ||
| PYROXD1 | Unknown | — | CTD Disgenet | ||
| MYOFIBRILLAR MYOPATHY 1 | DES | Unknown | — | GenCC | |
| MYOFIBRILLAR MYOPATHY 10 | SVIL | Causal | ClinVar Disgenet HPO | ||
| MYOFIBRILLAR MYOPATHY 11 | UNC45B | Causal | ClinVar Disgenet GWAS catalog | ||
| MYOFIBRILLAR MYOPATHY 2 | CRYAB | Causal | ClinVar GWAS catalog | ||
| MYOFIBRILLAR MYOPATHY 3 | MYOT | Causal | ClinVar GWAS catalog | ||
| MYOFIBRILLAR MYOPATHY 4 | LDB3 | Causal | ClinVar | ||
| MYOFIBRILLAR MYOPATHY 5 | FLNC | Causal | ClinVar GenCC | ||
| MYOFIBRILLAR MYOPATHY 6 | BAG3 | Causal | — | ClinVar GenCC | |
| MYOFIBRILLAR MYOPATHY 7 | KY | Causal | ClinVar Orphanet | ||
| MYOFIBRILLAR MYOPATHY 8 | PYROXD1 | Causal | ClinGen ClinVar GWAS catalog |