3-phosphoglycerate dehydrogenase deficiency
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| 3-Phosphoglycerate dehydrogenase deficiency | C0580190 | PHGDH | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 11055895 | - |
| 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form | 79351 | PHGDH | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |