Distal myopathy
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| ADULT-ONSET DISTAL MYOPATHY DUE TO VCP MUTATION | VCP | Unknown | GWAS catalog | ||
| ADULT-ONSET FOVEOMACULAR VITELLIFORM DYSTROPHY | PRPH2 | Causal | ClinGen | ||
| BEST1 | Unknown | Disgenet | |||
| IMPG1 | Unknown | GWAS catalog | |||
| IMPG2 | Unknown | GWAS catalog | |||
| DISTAL MYOPATHIES | MYH7 | Unknown | — | CTD | |
| TTN | Unknown | CTD | |||
| DISTAL MYOPATHY 1 | MYH7 | Unknown | — | Disgenet | |
| DISTAL MYOPATHY WITH ANTERIOR TIBIAL ONSET | DYSF | Causal | ClinVar Disgenet Orphanet | ||
| DISTAL MYOPATHY WITH POSTERIOR LEG AND ANTERIOR HAND INVOLVEMENT | FLNC | Causal | — | ClinVar Disgenet GenCC | |
| DISTAL MYOPATHY WITH VOCAL CORD WEAKNESS | MATR3 | Unknown | ClinGen Disgenet | ||
| DISTAL MYOPATHY, NONAKA TYPE | GNE | Unknown | CTD | ||
| SQSTM1 | Unknown | — | CTD | ||
| DISTAL MYOPATHY, TATEYAMA TYPE | CAV3 | Causal | ClinVar GWAS catalog Orphanet | ||
| DISTAL MYOPATHY, WELANDER TYPE | SQSTM1 | Unknown | Orphanet | ||
| TIA1 | Unknown | GWAS catalog Orphanet |