PHGDH, phosphoglycerate dehydrogenase, 26227

N. diseases: 288; N. variants: 33
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1866174
Disease: Phosphoglycerate Dehydrogenase Deficiency
Phosphoglycerate Dehydrogenase Deficiency 		0.700 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: C1866174
Disease: Phosphoglycerate Dehydrogenase Deficiency
Phosphoglycerate Dehydrogenase Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics. 19235232 2009
CUI: C1866174
Disease: Phosphoglycerate Dehydrogenase Deficiency
Phosphoglycerate Dehydrogenase Deficiency 		0.700 GeneticVariation disease UNIPROT Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics. 19235232 2009
CUI: C1866174
Disease: Phosphoglycerate Dehydrogenase Deficiency
Phosphoglycerate Dehydrogenase Deficiency 		0.700 CausalMutation disease CLINVAR Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics. 19235232 2009
CUI: C1866174
Disease: Phosphoglycerate Dehydrogenase Deficiency
Phosphoglycerate Dehydrogenase Deficiency 		0.700 CausalMutation disease CLINVAR V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme. 11751922 2002
CUI: C1866174
Disease: Phosphoglycerate Dehydrogenase Deficiency
Phosphoglycerate Dehydrogenase Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND 3-phosphoglycerate dehydrogenase deficiency in a patient with West syndrome. 11034457 2000
CUI: C1866174
Disease: Phosphoglycerate Dehydrogenase Deficiency
Phosphoglycerate Dehydrogenase Deficiency 		0.700 CausalMutation disease CLINVAR Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis. 11055895 2000
CUI: C1866174
Disease: Phosphoglycerate Dehydrogenase Deficiency
Phosphoglycerate Dehydrogenase Deficiency 		0.700 GeneticVariation disease UNIPROT Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis. 11055895 2000
CUI: C1866174
Disease: Phosphoglycerate Dehydrogenase Deficiency
Phosphoglycerate Dehydrogenase Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1866174
Disease: Phosphoglycerate Dehydrogenase Deficiency
Phosphoglycerate Dehydrogenase Deficiency 		0.700 Biomarker disease CTD_human
CUI: C1866174
Disease: Phosphoglycerate Dehydrogenase Deficiency
Phosphoglycerate Dehydrogenase Deficiency 		0.700 GeneticVariation disease CLINVAR
CUI: C0265218
Disease: Neu-Laxova syndrome
Neu-Laxova syndrome 		0.650 GeneticVariation disease BEFREE Biallelic pathogenic variants in either the PHGDH or PSAT1 genes have been shown to cause NLS. 30838783 2019
CUI: C0265218
Disease: Neu-Laxova syndrome
Neu-Laxova syndrome 		0.650 GeneticVariation disease BEFREE The first was a stillbirth with Neu-Laxova syndrome and a homozygous mutation in PHGDH. 26960553 2016
CUI: C0265218
Disease: Neu-Laxova syndrome
Neu-Laxova syndrome 		0.650 GeneticVariation disease BEFREE Based on previous associations of mutations in this gene with a milder NLS phenotype, as well as cases of serine deficiency, these observations lend further support to a genotype-phenotype correlation between the degree of PHGDH inactivation and disease severity. 25913727 2015
CUI: C0265218
Disease: Neu-Laxova syndrome
Neu-Laxova syndrome 		0.650 GermlineCausalMutation disease ORPHANET PHGDH encodes the first enzyme in the phosphorylated pathway of de novo serine synthesis, and complete deficiency of its mouse ortholog recapitulates many of the key features of NLS. 24836451 2014
CUI: C0265218
Disease: Neu-Laxova syndrome
Neu-Laxova syndrome 		0.650 Biomarker disease BEFREE PHGDH encodes the first enzyme in the phosphorylated pathway of de novo serine synthesis, and complete deficiency of its mouse ortholog recapitulates many of the key features of NLS. 24836451 2014
CUI: C0265218
Disease: Neu-Laxova syndrome
Neu-Laxova syndrome 		0.650 Biomarker disease BEFREE The overrepresentation of TNF-308*A, LTAlpha+252*G and HLA-DRB1*03 allele carriers was found in a subgroup of sarcoidosis patients presenting with Lofgren's syndrome (LS) by comparison with the subgroup of patients without LS (NLS; phenotype frequency LS vs NLS: 68.8 vs 37.1% for TNF-308*A, 93.8 vs 66.3% for LTA+252*G and 68.8 vs 21.3% for DRB1*03). 15713215 2005
CUI: C0265218
Disease: Neu-Laxova syndrome
Neu-Laxova syndrome 		0.650 Biomarker disease CTD_human
CUI: C0265218
Disease: Neu-Laxova syndrome
Neu-Laxova syndrome 		0.650 Biomarker disease GENOMICS_ENGLAND
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