Bethlem myopathy
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| BETHLEM MUSCULAR DYSTROPHY | COL12A1 | Unknown | Orphanet | |||
| COL6A1 | Unknown | Orphanet | ||||
| COL6A2 | Unknown | Orphanet | ||||
| COL6A3 | Unknown | Orphanet | ||||
| BETHLEM MYOPATHY | COL6A2 | Causal | GWAS catalog | |||
| COL12A1 | Unknown | CTD, GWAS catalog | ||||
| COL6A1 | Unknown | CTD, GWAS catalog | ||||
| COL6A3 | Unknown | GWAS catalog | ||||
| BETHLEM MYOPATHY 1 | COL12A1 | Unknown | — | Disgenet | ||
| COL6A1 | Unknown | — | Disgenet | |||
| COL6A2 | Unknown | — | Disgenet | |||
| COL6A3 | Unknown | — | Disgenet | |||
| DMPK | Unknown | — | Disgenet | |||
| LMNA | Unknown | — | Disgenet | |||
| BETHLEM MYOPATHY 1A | COL6A1 | Causal | ClinVar, GWAS catalog, HPO | |||
| COL6A2 | Causal | — | GenCC | |||
| COL6A3 | Causal | — | GenCC | |||
| BETHLEM MYOPATHY 1B | COL6A2 | Causal | ClinVar, Disgenet, HPO | |||
| BETHLEM MYOPATHY 1C | COL6A3 | Causal | ClinVar, Disgenet, HPO | |||
| BETHLEM MYOPATHY 2 | COL12A1 | Causal | ClinVar, Disgenet, GWAS catalog, GenCC, HPO |