DisGeNET - a database of gene-disease associations

GSS, glutathione synthetase, 2937

N. diseases: 73; N. variants: 20

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

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

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

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

Entrez Id:	2937
Gene Symbol:	GSS

GSS

CUI:	C0398746
Disease:

Gluthathione synthetase deficiency

0.800

CausalMutation

CLINVAR

dbSNP:

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

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

Entrez Id:	2937
Gene Symbol:	GSS

GSS

CUI:	C0398746
Disease:

Gluthathione synthetase deficiency

0.800

CausalMutation

CLINVAR

dbSNP:

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

Entrez Id:	2937
Gene Symbol:	GSS

GSS

CUI:	C0398746
Disease:

Gluthathione synthetase deficiency

0.800

CausalMutation

CLINVAR

dbSNP:

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

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

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

Entrez Id:	2937
Gene Symbol:	GSS

GSS

CUI:	C0398746
Disease:

Gluthathione synthetase deficiency

0.700

CausalMutation

CLINVAR

Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency.

15717202

2005

dbSNP:

rs121909307

Entrez Id:	2937
Gene Symbol:	GSS

GSS

CUI:	C0398746
Disease:

Gluthathione synthetase deficiency

0.700

CausalMutation

CLINVAR

Mutations in the glutathione synthetase gene cause 5-oxoprolinuria.

8896573

1996

dbSNP:

rs121909307

Entrez Id:	2937
Gene Symbol:	GSS

GSS

CUI:	C0398746
Disease:

Gluthathione synthetase deficiency

0.700

CausalMutation

CLINVAR

Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies.

25851806

2015

dbSNP:

rs121909307

Entrez Id:	2937
Gene Symbol:	GSS

GSS

CUI:	C0398746
Disease:

Gluthathione synthetase deficiency

0.700

CausalMutation

CLINVAR

Acetaminophen-induced hepatotoxicity in a glutathione synthetase-deficient patient.

17479648

2007

dbSNP:

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

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

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:

rs1325986563

Entrez Id:	2937
Gene Symbol:	GSS

GSS

CUI:	C0398746
Disease:

Gluthathione synthetase deficiency

0.700

GeneticVariation

UNIPROT

dbSNP:

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:

rs1419704426

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:

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

dbSNP:

rs148640446

Entrez Id:	2937
Gene Symbol:	GSS

GSS

CUI:	C0398746
Disease:

Gluthathione synthetase deficiency

0.700

GeneticVariation

UNIPROT

dbSNP:

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