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: 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: 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: 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: 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: 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: 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: rs764618040
rs764618040
Entrez Id: 26227;105378936
Gene Symbol: PHGDH;LOC105378936
PHGDH;LOC105378936
CUI: C0543888
Disease:
Epileptic encephalopathy 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs886041874
rs886041874
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C0543888
Disease:
Epileptic encephalopathy 		C 0.700 GeneticVariation CLINVAR
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: C0337438
Disease:
Glucose measurement 		A 0.700 GeneticVariation GWASDB Human metabolic individuality in biomedical and pharmaceutical research. 21886157 2011
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: 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: 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
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: 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: 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: rs1801955
rs1801955
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C2239176
Disease:
Liver carcinoma 		0.010 GeneticVariation BEFREE Seven polymorphisms of caspase 9 (rs2308941)C-->T and DOK2(rs2242241) T-->G, 6 of polymorphisms of EGFL3 (rs947345)A -->G, caspase 9 ( rs2308938) C-->G and PHGDH(rs1801955)T-->A, 5 of polymorphisms of E2F2(rs3218170) G-->A,4 of polymorphisms of MUTYH(rs1140507)T-->C and BNIP3L(rs1055806)G-->T, and 1 of polymorphism of TNFRSF1B (rs1061622)T-->G were detected by the chip in the tissues of 10 HCC. 16109524 2005
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: 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: rs587777770
rs587777770
Entrez Id: 26227;105378936
Gene Symbol: PHGDH;LOC105378936
PHGDH;LOC105378936
CUI: C4551478
Disease:
NEU-LAXOVA SYNDROME 1 		A 0.800 CausalMutation CLINVAR