PHGDH, phosphoglycerate dehydrogenase, 26227

N. diseases: 288; N. variants: 33
Disease: NEU-LAXOVA SYNDROME 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551478
Disease: NEU-LAXOVA SYNDROME 1
NEU-LAXOVA SYNDROME 1 		0.600 Biomarker disease GENOMICS_ENGLAND Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway. 25152457 2014
CUI: C4551478
Disease: NEU-LAXOVA SYNDROME 1
NEU-LAXOVA SYNDROME 1 		0.600 GeneticVariation disease UNIPROT Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH. 24836451 2014
CUI: C4551478
Disease: NEU-LAXOVA SYNDROME 1
NEU-LAXOVA SYNDROME 1 		0.600 Biomarker disease GENOMICS_ENGLAND Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH. 24836451 2014
CUI: C4551478
Disease: NEU-LAXOVA SYNDROME 1
NEU-LAXOVA SYNDROME 1 		0.600 Biomarker disease GENOMICS_ENGLAND Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH. 24836451 2014
CUI: C4551478
Disease: NEU-LAXOVA SYNDROME 1
NEU-LAXOVA SYNDROME 1 		0.600 Biomarker disease GENOMICS_ENGLAND Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway. 25152457 2014
CUI: C4551478
Disease: NEU-LAXOVA SYNDROME 1
NEU-LAXOVA SYNDROME 1 		0.600 CausalMutation disease CLINVAR Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics. 19235232 2009
CUI: C4551478
Disease: NEU-LAXOVA SYNDROME 1
NEU-LAXOVA SYNDROME 1 		0.600 Biomarker disease GENOMICS_ENGLAND Early ultrasound diagnosis of Neu-Laxova syndrome. 11494295 2001
CUI: C4551478
Disease: NEU-LAXOVA SYNDROME 1
NEU-LAXOVA SYNDROME 1 		0.600 Biomarker disease GENOMICS_ENGLAND 3-phosphoglycerate dehydrogenase deficiency in a patient with West syndrome. 11034457 2000
CUI: C4551478
Disease: NEU-LAXOVA SYNDROME 1
NEU-LAXOVA SYNDROME 1 		0.600 GeneticVariation disease CLINVAR