rs121909308
×
Entrez Id:
2937
Gene Symbol:
GSS
GSS
Gluthathione synthetase deficiency
A
0.800
CausalMutation
CLINVAR
rs121909309
×
Entrez Id:
2937
Gene Symbol:
GSS
GSS
Gluthathione synthetase deficiency
A
0.800
CausalMutation
CLINVAR
rs28938472
×
Entrez Id:
2937
Gene Symbol:
GSS
GSS
Gluthathione synthetase deficiency
C
0.800
CausalMutation
CLINVAR
rs1325986563
×
Entrez Id:
2937
Gene Symbol:
GSS
GSS
Gluthathione synthetase deficiency
0.700
GeneticVariation
UNIPROT
rs148640446
×
Entrez Id:
2937
Gene Symbol:
GSS
GSS
Gluthathione synthetase deficiency
0.700
GeneticVariation
UNIPROT
rs28936396
×
Entrez Id:
2937
Gene Symbol:
GSS
GSS
Gluthathione synthetase deficiency
A
0.700
CausalMutation
CLINVAR
rs28938472
×
Entrez Id:
2937
Gene Symbol:
GSS
GSS
Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to
C
0.700
CausalMutation
CLINVAR
rs75863437
×
Entrez Id:
2937
Gene Symbol:
GSS
GSS
Gluthathione synthetase deficiency
A
0.700
CausalMutation
CLINVAR
rs759253242
×
Entrez Id:
2937
Gene Symbol:
GSS
GSS
Gluthathione synthetase deficiency
0.700
GeneticVariation
UNIPROT
rs121909308
×
Entrez Id:
2937
Gene Symbol:
GSS
GSS
Gluthathione synthetase deficiency
0.800
GeneticVariation
UNIPROT
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria.
8896573
1996
rs121909309
×
Entrez Id:
2937
Gene Symbol:
GSS
GSS
Gluthathione synthetase deficiency
0.800
GeneticVariation
UNIPROT
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria.
8896573
1996
rs28938472
×
Entrez Id:
2937
Gene Symbol:
GSS
GSS
Gluthathione synthetase deficiency
0.800
GeneticVariation
UNIPROT
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria.
8896573
1996
rs121909307
×
Entrez Id:
2937
Gene Symbol:
GSS
GSS
Gluthathione synthetase deficiency
T
0.700
CausalMutation
CLINVAR
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria.
8896573
1996
rs1296000099
×
Entrez Id:
2937
Gene Symbol:
GSS
GSS
Gluthathione synthetase deficiency
0.700
GeneticVariation
UNIPROT
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria.
8896573
1996
rs1419704426
×
Entrez Id:
2937
Gene Symbol:
GSS
GSS
Gluthathione synthetase deficiency
0.700
GeneticVariation
UNIPROT
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria.
8896573
1996
rs752560204
×
Entrez Id:
2937
Gene Symbol:
GSS
GSS
Gluthathione synthetase deficiency
G
0.700
CausalMutation
CLINVAR
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria.
8896573
1996
rs121909308
×
Entrez Id:
2937
Gene Symbol:
GSS
GSS
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
rs121909309
×
Entrez Id:
2937
Gene Symbol:
GSS
GSS
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
rs28938472
×
Entrez Id:
2937
Gene Symbol:
GSS
GSS
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
rs1296000099
×
Entrez Id:
2937
Gene Symbol:
GSS
GSS
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
rs1419704426
×
Entrez Id:
2937
Gene Symbol:
GSS
GSS
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
rs1555889738
GSS;MYH7B
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
rs121909307
×
Entrez Id:
2937
Gene Symbol:
GSS
GSS
Gluthathione synthetase deficiency
T
0.700
CausalMutation
CLINVAR
Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency.
15717202
2005
rs1555889738
GSS;MYH7B
Gluthathione synthetase deficiency
T
0.700
CausalMutation
CLINVAR
Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency.
15717202
2005
rs121909307
×
Entrez Id:
2937
Gene Symbol:
GSS
GSS
Gluthathione synthetase deficiency
T
0.700
CausalMutation
CLINVAR
Acetaminophen-induced hepatotoxicity in a glutathione synthetase-deficient patient.
17479648
2007