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: 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: 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: 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: rs28938472
rs28938472
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C1856399
Disease:
Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to 		C 0.700 CausalMutation CLINVAR
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
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: 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: rs121909307
rs121909307
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		T 0.700 CausalMutation CLINVAR Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. 8896573 1996
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: 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: 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: rs1296000099
rs1296000099
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		0.700 GeneticVariation UNIPROT Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. 8896573 1996
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