GSS, glutathione synthetase, 2937

N. diseases: 73; N. variants: 20
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17309872
rs17309872
Entrez Id: 2937;55902
Gene Symbol: GSS;ACSS2
GSS;ACSS2
CUI: C0376358
Disease:
Malignant neoplasm of prostate 		0.010 GeneticVariation BEFREE Among men carrying the variant allele for thioredoxin reductase 2 (TXNRD2) rs4485648, microsomal epoxide hydrolase 1 (EPHX1) rs17309872, or myeloperoxidase (MPO) rs11079344, an increased prostate cancer risk was observed with high, compared with no, petroleum oil/petroleum distillate (OR=1.9, 95% CI: 1.1-3.2, P interaction=0.01; OR=2.1, 95% CI: 1.1-4.0, P interaction=0.01), or terbufos (OR=3.0, 95% CI: 1.5-6.0, P interaction=2.0×10(-3)) use, respectively. 21716162 2011
dbSNP: rs17309872
rs17309872
Entrez Id: 2937;55902
Gene Symbol: GSS;ACSS2
GSS;ACSS2
CUI: C0600139
Disease:
Prostate carcinoma 		0.010 GeneticVariation BEFREE Among men carrying the variant allele for thioredoxin reductase 2 (TXNRD2) rs4485648, microsomal epoxide hydrolase 1 (EPHX1) rs17309872, or myeloperoxidase (MPO) rs11079344, an increased prostate cancer risk was observed with high, compared with no, petroleum oil/petroleum distillate (OR=1.9, 95% CI: 1.1-3.2, P interaction=0.01; OR=2.1, 95% CI: 1.1-4.0, P interaction=0.01), or terbufos (OR=3.0, 95% CI: 1.5-6.0, P interaction=2.0×10(-3)) use, respectively. 21716162 2011
dbSNP: rs2273684
rs2273684
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0017654
Disease:
Glomerular Filtration Rate 		G 0.700 GeneticVariation GWASCAT Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies. 30604766 2019
dbSNP: rs2273684
rs2273684
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0017654
Disease:
Glomerular Filtration Rate 		G 0.700 GeneticVariation GWASCAT Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis. 31015462 2019
dbSNP: rs2273684
rs2273684
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0017654
Disease:
Glomerular Filtration Rate 		T 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs1296000099
rs1296000099
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		0.700 GeneticVariation UNIPROT Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency. 27581854 2016
dbSNP: rs1419704426
rs1419704426
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		0.700 GeneticVariation UNIPROT Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency. 27581854 2016
dbSNP: rs2025096
rs2025096
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0429097
Disease:
QRS complex feature 		0.700 GeneticVariation GWASCAT 52 Genetic Loci Influencing Myocardial Mass. 27659466 2016
dbSNP: rs121909307
rs121909307
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		T 0.700 CausalMutation CLINVAR Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies. 25851806 2015
dbSNP: rs2273684
rs2273684
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0005586
Disease:
Bipolar Disorder 		0.700 GeneticVariation GWASDB Replication of bipolar disorder susceptibility alleles and identification of two novel genome-wide significant associations in a new bipolar disorder case-control sample. 23070075 2013
dbSNP: rs6060124
rs6060124
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0001973
Disease:
Alcoholic Intoxication, Chronic 		0.700 GeneticVariation GWASDB A genome-wide association study of alcohol-dependence symptom counts in extended pedigrees identifies C15orf53. 23089632 2013
dbSNP: rs13041792
rs13041792
Entrez Id: 2937;57644
Gene Symbol: GSS;MYH7B
GSS;MYH7B
CUI: C1168438
Disease:
Protein C antigen measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
dbSNP: rs13041792
rs13041792
Entrez Id: 2937;57644
Gene Symbol: GSS;MYH7B
GSS;MYH7B
CUI: C0919677
Disease:
Protein C measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
dbSNP: rs17309872
rs17309872
Entrez Id: 2937;55902
Gene Symbol: GSS;ACSS2
GSS;ACSS2
CUI: C0919677
Disease:
Protein C measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
dbSNP: rs17309872
rs17309872
Entrez Id: 2937;55902
Gene Symbol: GSS;ACSS2
GSS;ACSS2
CUI: C1168438
Disease:
Protein C antigen measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
dbSNP: rs2025096
rs2025096
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0919677
Disease:
Protein C measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
dbSNP: rs2025096
rs2025096
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C1168438
Disease:
Protein C antigen measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
dbSNP: rs2236270
rs2236270
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C1168438
Disease:
Protein C antigen measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
dbSNP: rs2236270
rs2236270
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0919677
Disease:
Protein C measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
dbSNP: rs121909307
rs121909307
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		T 0.700 CausalMutation CLINVAR Acetaminophen-induced hepatotoxicity in a glutathione synthetase-deficient patient. 17479648 2007
dbSNP: rs121909307
rs121909307
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		T 0.700 CausalMutation CLINVAR Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency. 15717202 2005
dbSNP: rs1555889738
rs1555889738
Entrez Id: 2937;57644
Gene Symbol: GSS;MYH7B
GSS;MYH7B
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		T 0.700 CausalMutation CLINVAR Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency. 15717202 2005
dbSNP: rs1555889738
rs1555889738
Entrez Id: 2937;57644
Gene Symbol: GSS;MYH7B
GSS;MYH7B
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		T 0.700 CausalMutation CLINVAR Diagnostics in patients with glutathione synthetase deficiency but without mutations in the exons of the GSS gene. 14635114 2003
dbSNP: rs1296000099
rs1296000099
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		0.700 GeneticVariation UNIPROT Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction. 9215686 1997
dbSNP: rs1419704426
rs1419704426
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		0.700 GeneticVariation UNIPROT Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction. 9215686 1997