| Disease Term | Human Homologs | Mouse Homologs | Mouse Models | Homology Source | |||
| Neu-Laxova syndrome 1 | PHGDH* | Phgdh | Alliance of Genome Resources | ||||
| Neu-Laxova syndrome 2 | PSAT1* | Psat1 | Alliance of Genome Resources | ||||
| PHGDH deficiency | PHGDH* | Phgdh | Alliance of Genome Resources | ||||
| PSAT deficiency | PSAT1* | Psat1 | Alliance of Genome Resources | ||||
| PSPH deficiency | PSPH* | Psph | Alliance of Genome Resources | ||||