Bethlem myopathy
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| 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 |