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: 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: 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: rs28938472
rs28938472
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: 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: 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: 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 identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
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: 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: 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
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: 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 		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 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121909309
rs121909309
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		A 0.800 CausalMutation CLINVAR
dbSNP: rs28938472
rs28938472
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		C 0.800 CausalMutation CLINVAR
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