| Disease ID | Source | Name | Description |
| 250940 | OMIM | Homocystinuria-megaloblastic anemia, cblG complementation type (HMAG) | An autosomal recessive inborn error of metabolism resulting from defects in the cobalamin-dependent pathway that converts homocysteine to methionine. It causes delayed psychomotor development, megaloblastic anemia, homocystinuria, and hypomethioninemia. The disease is caused by variants affecting the gene represented in this entry. |
| 601634 | OMIM | Neural tube defects, folate-sensitive (NTDFS) | The most common NTDs are open spina bifida (myelomeningocele) and anencephaly. Disease susceptibility is associated with variants affecting the gene represented in this entry. |