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: rs12144094
rs12144094
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C0005890
Disease:
Body Height 		C 0.700 GeneticVariation GWASCAT Defining the role of common variation in the genomic and biological architecture of adult human height. 25282103 2014
dbSNP: rs477992
rs477992
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C0201874
Disease:
Amino acids measurement 		A 0.700 GeneticVariation GWASCAT Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels. 26068415 2015
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: rs478093
rs478093
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: rs478093
rs478093
Entrez Id: 26227;105378937
Gene Symbol: PHGDH;LOC105378937
PHGDH;LOC105378937
CUI: C4049919
Disease:
Insulin Sensitivity Measurement 		G 0.700 GeneticVariation GWASCAT Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes. 23378610 2013
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: rs523395
rs523395
Entrez Id: 26227;105378936
Gene Symbol: PHGDH;LOC105378936
PHGDH;LOC105378936
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs541763
rs541763
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: 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: rs595283
rs595283
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: rs636101
rs636101
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs637868
rs637868
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1883008
Disease:
Serum Alanine Aminotransferase Measurement 		C 0.700 GeneticVariation GWASCAT Genome-Wide Study Links PNPLA3 Variant With Elevated Hepatic Transaminase After Acute Lymphoblastic Leukemia Therapy. 28090653 2017
dbSNP: rs637868
rs637868
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C0201836
Disease:
Alanine aminotransferase measurement 		C 0.700 GeneticVariation GWASCAT Genome-Wide Study Links PNPLA3 Variant With Elevated Hepatic Transaminase After Acute Lymphoblastic Leukemia Therapy. 28090653 2017
dbSNP: rs637868
rs637868
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1961102
Disease:
Precursor Cell Lymphoblastic Leukemia Lymphoma 		C 0.700 GeneticVariation GWASCAT Genome-Wide Study Links PNPLA3 Variant With Elevated Hepatic Transaminase After Acute Lymphoblastic Leukemia Therapy. 28090653 2017
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: rs666930
rs666930
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C0026769
Disease:
Multiple Sclerosis 		G 0.700 GeneticVariation GWASCAT Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. 24076602 2013
dbSNP: rs666930
rs666930
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C0678222
Disease:
Breast Carcinoma 		C 0.700 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
dbSNP: rs894079
rs894079
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C0017565
Disease:
Gingival Hemorrhage 		0.700 GeneticVariation GWASCAT The Novel ASIC2 Locus is Associated with Severe Gingival Inflammation. 28459102 2016
dbSNP: rs477992
rs477992
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C0495706
Disease:
elevated blood glucose level 		A 0.700 GeneticVariation GWASDB Human metabolic individuality in biomedical and pharmaceutical research. 21886157 2011
dbSNP: rs477992
rs477992
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C0337438
Disease:
Glucose measurement 		A 0.700 GeneticVariation GWASDB Human metabolic individuality in biomedical and pharmaceutical research. 21886157 2011
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 		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 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 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 Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis. 11055895 2000