Methylcobalamin deficiency
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Methylcobalamin deficiency type cblG | 2170 | MTR | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Methylcobalamin Deficiency, CblG Type | C1855128 | MTR | Causal Pathogenic evidence from ClinVar | 8968736, 8968737, 12068375, 27604308, 28666289 | ClinVar |
| Methylcobalamin deficiency type cblE | 2169 | MTRR | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Methylcobalamin deficiency type cblDv1 | 308380 | MMADHC | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |