| Gene | Associated with HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY in | Link to HGNC | Cytogenetic band | Number of associated diseases | Associated diseases |
|---|---|---|---|---|---|
| MTHFR | ClinVar, OMIM, HUMSAVAR | HGNC link | 1p36.22 | 5 | 181500, PS188050, 606764, 236250, 601634 |