G6PD, glucose-6-phosphate dehydrogenase, 2539

N. diseases: 410; N. variants: 66
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72554665
rs72554665
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
CUI: C2720289
Disease:
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
0.800 GeneticVariation UNIPROT A Novel G6PD p. Gly 321 Val Mutation Causing Severe Hemolysis in an Indian Infant. 30988594 2019
dbSNP: rs76645461
rs76645461
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
CUI: C2720289
Disease:
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
0.800 GeneticVariation UNIPROT A Novel G6PD p. Gly 321 Val Mutation Causing Severe Hemolysis in an Indian Infant. 30988594 2019
dbSNP: rs78365220
rs78365220
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
CUI: C2720289
Disease:
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
0.800 GeneticVariation UNIPROT A Novel G6PD p. Gly 321 Val Mutation Causing Severe Hemolysis in an Indian Infant. 30988594 2019
dbSNP: rs78478128
rs78478128
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
CUI: C2720289
Disease:
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
0.800 GeneticVariation UNIPROT A Novel G6PD p. Gly 321 Val Mutation Causing Severe Hemolysis in an Indian Infant. 30988594 2019
dbSNP: rs137852340
rs137852340
Entrez Id: 2539;8517
Gene Symbol: G6PD;IKBKG
G6PD;IKBKG
CUI: C2720289
Disease:
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
C 0.800 CausalMutation CLINVAR Analysis of Glucose-6-Phosphate Dehydrogenase Genetic Polymorphism in the Hakka Population in Southern China. 30315739 2018
dbSNP: rs137852340
rs137852340
Entrez Id: 2539;8517
Gene Symbol: G6PD;IKBKG
G6PD;IKBKG
CUI: C2720289
Disease:
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
C 0.800 CausalMutation CLINVAR Newborn screening of glucose-6-phosphate dehydrogenase deficiency in Guangxi, China: determination of optimal cutoff value to identify heterozygous female neonates. 29339739 2018
dbSNP: rs76723693
rs76723693
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
CUI: C2720289
Disease:
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
G 0.800 GeneticVariation CLINVAR Biochemical Analysis of Two Single Mutants that Give Rise to a Polymorphic G6PD A-Double Mutant. 29072585 2017
dbSNP: rs76723693
rs76723693
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
CUI: C2720289
Disease:
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
G 0.800 GeneticVariation CLINVAR A patient with both methemoglobinemia and G6PD deficiency: A therapeutic conundrum. 28195434 2017
dbSNP: rs137852314
rs137852314
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
CUI: C2720289
Disease:
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
T 0.800 CausalMutation CLINVAR Molecular Analysis of Glucose-6-Phosphate Dehydrogenase Gene Mutations in Bangladeshi Individuals. 27880809 2016
dbSNP: rs137852327
rs137852327
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
CUI: C2720289
Disease:
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
T 0.800 GeneticVariation CLINVAR Functional and Biochemical Characterization of Three Recombinant Human Glucose-6-Phosphate Dehydrogenase Mutants: Zacatecas, Vanua-Lava and Viangchan. 27213370 2016
dbSNP: rs137852327
rs137852327
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
CUI: C2720289
Disease:
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
T 0.800 GeneticVariation CLINVAR Detailed functional analysis of two clinical glucose-6-phosphate dehydrogenase (G6PD) variants, G6PDViangchan and G6PDViangchan+Mahidol: Decreased stability and catalytic efficiency contribute to the clinical phenotype. 27053284 2016
dbSNP: rs137852327
rs137852327
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
CUI: C2720289
Disease:
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
T 0.800 CausalMutation CLINVAR Detailed functional analysis of two clinical glucose-6-phosphate dehydrogenase (G6PD) variants, G6PDViangchan and G6PDViangchan+Mahidol: Decreased stability and catalytic efficiency contribute to the clinical phenotype. 27053284 2016
dbSNP: rs137852327
rs137852327
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
CUI: C2720289
Disease:
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
T 0.800 CausalMutation CLINVAR Functional and Biochemical Characterization of Three Recombinant Human Glucose-6-Phosphate Dehydrogenase Mutants: Zacatecas, Vanua-Lava and Viangchan. 27213370 2016
dbSNP: rs78365220
rs78365220
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
CUI: C2720289
Disease:
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
G 0.800 CausalMutation CLINVAR Functional and Biochemical Characterization of Three Recombinant Human Glucose-6-Phosphate Dehydrogenase Mutants: Zacatecas, Vanua-Lava and Viangchan. 27213370 2016
dbSNP: rs137852327
rs137852327
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
CUI: C2720289
Disease:
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
T 0.800 GeneticVariation CLINVAR Prevalence and Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency at the China-Myanmar Border. 26226515 2015
dbSNP: rs137852327
rs137852327
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
CUI: C2720289
Disease:
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
T 0.800 GeneticVariation CLINVAR Large cohort screening of G6PD deficiency and the mutational spectrum in the Dongguan District in Southern China. 25775246 2015
dbSNP: rs398123546
rs398123546
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
CUI: C2720289
Disease:
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
A 0.800 CausalMutation CLINVAR Molecular epidemiological investigation of G6PD deficiency by a gene chip among Chinese Hakka of southern Jiangxi province. 26823837 2015
dbSNP: rs5030869
rs5030869
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
CUI: C2720289
Disease:
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
T 0.800 CausalMutation CLINVAR Molecular Characterization of G6PD Deficient Variants in Nineveh Province, Northwestern Iraq. 25548459 2015
dbSNP: rs72554665
rs72554665
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
CUI: C2720289
Disease:
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
A 0.800 CausalMutation CLINVAR Large cohort screening of G6PD deficiency and the mutational spectrum in the Dongguan District in Southern China. 25775246 2015
dbSNP: rs72554665
rs72554665
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
CUI: C2720289
Disease:
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
A 0.800 CausalMutation CLINVAR Molecular epidemiological investigation of G6PD deficiency by a gene chip among Chinese Hakka of southern Jiangxi province. 26823837 2015
dbSNP: rs72554665
rs72554665
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
CUI: C2720289
Disease:
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
0.800 GeneticVariation UNIPROT Severe G6PD Deficiency Due to a New Missense Mutation in an Infant of Northern European Descent. 26479991 2015
dbSNP: rs72554665
rs72554665
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
CUI: C2720289
Disease:
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
A 0.800 CausalMutation CLINVAR Incidence and molecular characterization of Glucose-6-Phosphate Dehydrogenase deficiency among neonates for newborn screening in Chaozhou, China. 25440321 2015
dbSNP: rs76645461
rs76645461
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
CUI: C2720289
Disease:
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
0.800 GeneticVariation UNIPROT Severe G6PD Deficiency Due to a New Missense Mutation in an Infant of Northern European Descent. 26479991 2015
dbSNP: rs78365220
rs78365220
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
CUI: C2720289
Disease:
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
0.800 GeneticVariation UNIPROT Severe G6PD Deficiency Due to a New Missense Mutation in an Infant of Northern European Descent. 26479991 2015
dbSNP: rs78478128
rs78478128
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
CUI: C2720289
Disease:
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
0.800 GeneticVariation UNIPROT Severe G6PD Deficiency Due to a New Missense Mutation in an Infant of Northern European Descent. 26479991 2015