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: rs17310467
rs17310467
Entrez Id: 2937;57644
Gene Symbol: GSS;MYH7B
GSS;MYH7B
CUI: C0919677
Disease:
Protein C measurement 		0.800 GeneticVariation GWASDB Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project. 22443383 2012
dbSNP: rs17310467
rs17310467
Entrez Id: 2937;57644
Gene Symbol: GSS;MYH7B
GSS;MYH7B
CUI: C1168438
Disease:
Protein C antigen measurement 		0.800 GeneticVariation GWASCAT Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project. 22443383 2012
dbSNP: rs17310467
rs17310467
Entrez Id: 2937;57644
Gene Symbol: GSS;MYH7B
GSS;MYH7B
CUI: C0919677
Disease:
Protein C measurement 		0.800 GeneticVariation GWASCAT Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project. 22443383 2012
dbSNP: rs17310467
rs17310467
Entrez Id: 2937;57644
Gene Symbol: GSS;MYH7B
GSS;MYH7B
CUI: C0919677
Disease:
Protein C measurement 		0.800 GeneticVariation GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
dbSNP: rs17310467
rs17310467
Entrez Id: 2937;57644
Gene Symbol: GSS;MYH7B
GSS;MYH7B
CUI: C1168438
Disease:
Protein C antigen measurement 		0.800 GeneticVariation GWASDB Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project. 22443383 2012
dbSNP: rs17310467
rs17310467
Entrez Id: 2937;57644
Gene Symbol: GSS;MYH7B
GSS;MYH7B
CUI: C1168438
Disease:
Protein C antigen measurement 		0.800 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: 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: 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: 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: 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: rs121909308
rs121909308
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		0.800 GeneticVariation UNIPROT Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. 8896573 1996
dbSNP: rs121909308
rs121909308
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		0.800 GeneticVariation UNIPROT Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency. 27581854 2016
dbSNP: rs121909308
rs121909308
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		0.800 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: rs121909308
rs121909308
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121909309
rs121909309
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		0.800 GeneticVariation UNIPROT Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency. 27581854 2016
dbSNP: rs121909309
rs121909309
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		0.800 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: rs121909309
rs121909309
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121909309
rs121909309
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		0.800 GeneticVariation UNIPROT Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. 8896573 1996
dbSNP: rs28938472
rs28938472
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		C 0.800 CausalMutation CLINVAR
dbSNP: rs28938472
rs28938472
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		0.800 GeneticVariation UNIPROT Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. 8896573 1996
dbSNP: rs28938472
rs28938472
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		0.800 GeneticVariation UNIPROT Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction. 9215686 1997