PHGDH, phosphoglycerate dehydrogenase, 26227

N. diseases: 288; N. variants: 33
Disease: 3-Phosphoglycerate dehydrogenase deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0580190
Disease: 3-Phosphoglycerate dehydrogenase deficiency
3-Phosphoglycerate dehydrogenase deficiency 		0.300 GermlineCausalMutation disease ORPHANET Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis. 11055895 2000