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: 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: rs267606947
rs267606947
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C4551478
Disease:
NEU-LAXOVA SYNDROME 1
A 0.700 GeneticVariation CLINVAR
dbSNP: rs587777774
rs587777774
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C4551478
Disease:
NEU-LAXOVA SYNDROME 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs587777775
rs587777775
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C4551478
Disease:
NEU-LAXOVA SYNDROME 1
C 0.700 CausalMutation CLINVAR
dbSNP: rs730882181
rs730882181
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease:
Phosphoglycerate Dehydrogenase Deficiency
A 0.700 CausalMutation CLINVAR
dbSNP: rs764618040
rs764618040
Entrez Id: 26227;105378936
Gene Symbol: PHGDH;LOC105378936
PHGDH;LOC105378936
CUI: C0543888
Disease:
Epileptic encephalopathy
T 0.700 GeneticVariation CLINVAR
dbSNP: rs764618040
rs764618040
Entrez Id: 26227;105378936
Gene Symbol: PHGDH;LOC105378936
PHGDH;LOC105378936
CUI: C0036572
Disease:
Seizures
T 0.700 GeneticVariation CLINVAR
dbSNP: rs769256568
rs769256568
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease:
Phosphoglycerate Dehydrogenase Deficiency
T 0.700 CausalMutation CLINVAR
dbSNP: rs769256568
rs769256568
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C4551478
Disease:
NEU-LAXOVA SYNDROME 1
T 0.700 CausalMutation CLINVAR
dbSNP: rs775936961
rs775936961
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C1866174
Disease:
Phosphoglycerate Dehydrogenase Deficiency
T 0.700 CausalMutation CLINVAR
dbSNP: rs886041874
rs886041874
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C0543888
Disease:
Epileptic encephalopathy
C 0.700 GeneticVariation CLINVAR
dbSNP: rs886041874
rs886041874
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C0036572
Disease:
Seizures
C 0.700 GeneticVariation CLINVAR
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: 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: 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: 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: 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: 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: 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: 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: 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