Distal myopathy
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| 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 |