Cobalamin c disease
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| COBALAMIN C DISEASE | ABCD4 | Causal | — | Disgenet | |
| LMBRD1 | Causal | — | Disgenet | ||
| MMACHC | Causal | — | ClinVar Disgenet | ||
| MMADHC | Causal | — | Disgenet | ||
| DCDC2C | Unknown | — | Disgenet | ||
| HCFC1 | Unknown | — | Disgenet | ||
| PRDX1 | Unknown | — | ClinVar Disgenet | ||
| METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLC | MMACHC | Unknown | Orphanet | ||
| METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLC | MMACHC | Unknown | — | ClinGen GenCC | |
| PRDX1 | Unknown | GWAS catalog | |||
| METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE | MMACHC | Unknown | — | HPO | |
| PRDX1 | Unknown | — | HPO | ||
| METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, DIGENIC | MMACHC | Causal | — | Disgenet | |
| PRDX1 | Causal | — | Disgenet |