PHGDH, phosphoglycerate dehydrogenase, 26227

N. diseases: 288; N. variants: 33
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777770
rs587777770
Entrez Id: 26227;105378936
Gene Symbol: PHGDH;LOC105378936
PHGDH;LOC105378936
CUI: C4551478
Disease:
NEU-LAXOVA SYNDROME 1 		0.800 GeneticVariation UNIPROT Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH. 24836451 2014
dbSNP: rs121907987
rs121907987
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease:
Phosphoglycerate Dehydrogenase Deficiency 		0.800 GeneticVariation UNIPROT Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics. 19235232 2009
dbSNP: rs121907988
rs121907988
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease:
Phosphoglycerate Dehydrogenase Deficiency 		0.800 GeneticVariation UNIPROT Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics. 19235232 2009
dbSNP: rs267606947
rs267606947
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease:
Phosphoglycerate Dehydrogenase Deficiency 		0.800 GeneticVariation UNIPROT Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics. 19235232 2009
dbSNP: rs267606948
rs267606948
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease:
Phosphoglycerate Dehydrogenase Deficiency 		0.800 GeneticVariation UNIPROT Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics. 19235232 2009
dbSNP: rs267606948
rs267606948
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease:
Phosphoglycerate Dehydrogenase Deficiency 		A 0.800 CausalMutation CLINVAR Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics. 19235232 2009
dbSNP: rs121907987
rs121907987
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease:
Phosphoglycerate Dehydrogenase Deficiency 		A 0.800 CausalMutation CLINVAR V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme. 11751922 2002
dbSNP: rs121907987
rs121907987
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease:
Phosphoglycerate Dehydrogenase Deficiency 		0.800 GeneticVariation UNIPROT Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis. 11055895 2000
dbSNP: rs121907987
rs121907987
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease:
Phosphoglycerate Dehydrogenase Deficiency 		A 0.800 CausalMutation CLINVAR Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis. 11055895 2000
dbSNP: rs121907988
rs121907988
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease:
Phosphoglycerate Dehydrogenase Deficiency 		0.800 GeneticVariation UNIPROT Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis. 11055895 2000
dbSNP: rs267606947
rs267606947
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease:
Phosphoglycerate Dehydrogenase Deficiency 		0.800 GeneticVariation UNIPROT Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis. 11055895 2000
dbSNP: rs267606948
rs267606948
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease:
Phosphoglycerate Dehydrogenase Deficiency 		0.800 GeneticVariation UNIPROT Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis. 11055895 2000
dbSNP: rs121907988
rs121907988
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease:
Phosphoglycerate Dehydrogenase Deficiency 		A 0.800 CausalMutation CLINVAR
dbSNP: rs267606947
rs267606947
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease:
Phosphoglycerate Dehydrogenase Deficiency 		A 0.800 CausalMutation CLINVAR
dbSNP: rs267606947
rs267606947
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease:
Phosphoglycerate Dehydrogenase Deficiency 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs587777770
rs587777770
Entrez Id: 26227;105378936
Gene Symbol: PHGDH;LOC105378936
PHGDH;LOC105378936
CUI: C4551478
Disease:
NEU-LAXOVA SYNDROME 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs12129705
rs12129705
Entrez Id: 26227;90874
Gene Symbol: PHGDH;ZNF697
PHGDH;ZNF697
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs478093
rs478093
Entrez Id: 26227;105378937
Gene Symbol: PHGDH;LOC105378937
PHGDH;LOC105378937
CUI: C0523677
Disease:
Glycine measurement 		G 0.700 GeneticVariation GWASCAT Genetic Determinants of Circulating Glycine Levels and Risk of Coronary Artery Disease. 31070104 2019
dbSNP: rs561931
rs561931
Entrez Id: 26227;105378937
Gene Symbol: PHGDH;LOC105378937
PHGDH;LOC105378937
CUI: C0523677
Disease:
Glycine measurement 		G 0.700 GeneticVariation GWASCAT Assessing the causal association of glycine with risk of cardio-metabolic diseases. 30837465 2019
dbSNP: rs662602
rs662602
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs477992
rs477992
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1445957
Disease:
Serum total cholesterol measurement 		A 0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
dbSNP: rs10494229
rs10494229
Entrez Id: 26227;105378937
Gene Symbol: PHGDH;LOC105378937
PHGDH;LOC105378937
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs11577560
rs11577560
Entrez Id: 26227;105378937
Gene Symbol: PHGDH;LOC105378937
PHGDH;LOC105378937
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs11804606
rs11804606
Entrez Id: 26227;105378937
Gene Symbol: PHGDH;LOC105378937
PHGDH;LOC105378937
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs12023426
rs12023426
Entrez Id: 26227;105378937
Gene Symbol: PHGDH;LOC105378937
PHGDH;LOC105378937
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017