Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
0.400 Biomarker group BEFREE Glucose-6-Phosphate dehydrogenase (G6PD) deficiency is the most common enzymopathy worldwide, no reliable bedside diagnostic tests to quantify G6PD activity exist. 30388146 2018
Entrez Id: 2821
Gene Symbol: GPI
GPI
0.020 Biomarker group BEFREE Glucose phosphate isomerase (GPI) deficiency is the second most common red blood cell enzymopathy involving the glycolysis pathway.It is an autosomal recessive disorder. 31415279 2019
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
0.400 Biomarker group BEFREE Glucose-6-phosphate dehydrogenase (G6PD) deficiency, the most common enzymopathy of humans, affects over 400 million people. 7617034 1995
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
0.400 Biomarker group BEFREE Glucose-6-phosphate dehydrogenase (G6PD; E.C.1.1.1.49) deficiency is the most common human enzymopathy; nearly 400 different biochemical variants of the enzyme have been described. 7806085 1995
Entrez Id: 7167
Gene Symbol: TPI1
TPI1
0.330 GeneticVariation group BEFREE Biochemical studies demonstrate that mutation of this glycolytic enzyme gene does not result in a bioenergetic deficit, suggesting an alternate cause of enzymopathy associated with TPI impairment. 16980388 2006
Entrez Id: 7167
Gene Symbol: TPI1
TPI1
0.330 AlteredExpression group BEFREE Both parents and some other family members had moderately reduced erythrocyte TPI activity in accordance with the autosomal recessive mode of inheritance in this enzymopathy. 669702 1978
Entrez Id: 226
Gene Symbol: ALDOA
ALDOA
0.300 Biomarker group GENOMICS_ENGLAND Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A. 8598869 1996
Entrez Id: 5313
Gene Symbol: PKLR
PKLR
0.300 Biomarker group GENOMICS_ENGLAND cDNA cloning of human R-type pyruvate kinase and identification of a single amino acid substitution (Thr384----Met) affecting enzymatic stability in a pyruvate kinase variant (PK Tokyo) associated with hereditary hemolytic anemia. 1896471 1991
Entrez Id: 9493
Gene Symbol: KIF23
KIF23
0.300 Biomarker group GENOMICS_ENGLAND Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23. 23570799 2013
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
0.400 GeneticVariation group BEFREE Deficiency in glucose-6-phosphate dehydrogenase (G6PD) is the most common enzymopathy, and more than 125 different mutations causing G6PD deficiency have been identified. 12187030 2002
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
0.400 GeneticVariation group BEFREE Deficiency of glucose-6-phosphate dehydrogenase (G6PD) is an X-linked hereditary genetic defect that is the most common polymorphism and enzymopathy in humans. 27053284 2016
Entrez Id: 7167
Gene Symbol: TPI1
TPI1
0.330 Biomarker group GENOMICS_ENGLAND Distinct behavior of mutant triosephosphate isomerase in hemolysate and in isolated form: molecular basis of enzyme deficiency. 11698297 2001
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
0.400 Biomarker group GENOMICS_ENGLAND DNA sequence abnormalities of human glucose-6-phosphate dehydrogenase variants. 1999409 1991
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
0.400 GeneticVariation group BEFREE G6PD deficiency results from many different point mutations in the X-linked gene encoding G6PD and is the most common human enzymopathy. 10745013 2000
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
0.400 GeneticVariation group BEFREE G6PD deficiency, an enzymopathy affecting 7% of the world population, is caused by over 160 identified amino acid variants in glucose-6-phosphate dehydrogenase (G6PD). 28297664 2017
Entrez Id: 1666
Gene Symbol: DECR1
DECR1
0.010 Biomarker group BEFREE Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an enzymopathy in which reduced NADPH concentrations are not maintained, resulting in oxidative damage. 19937590 2009
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
0.400 Biomarker group GENOMICS_ENGLAND Glucose-6-phosphate dehydrogenase deficiency. 18177777 2008
Entrez Id: 2936
Gene Symbol: GSR
GSR
0.300 Biomarker group GENOMICS_ENGLAND Hereditary spherocytic anemia with deletion of the short arm of chromosome 8. 8533822 1995
Entrez Id: 3098
Gene Symbol: HK1
HK1
0.300 Biomarker group GENOMICS_ENGLAND Hexokinase mutations that produce nonspherocytic hemolytic anemia. 7655856 1995
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
0.010 Biomarker group BEFREE Human beta-galactosidase and alpha-neuraminidase deficient mucolipidosis [ML(gal-neur-)] is an inherited lysosomal enzymopathy which recently was designated as a sialidosis. 7076257 1982
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
0.400 GeneticVariation group BEFREE In the opposite direction and outside LCR1, IKBKG/NEMO partially overlaps G6PD, whose mutations cause a common X-linked human enzymopathy. 22121116 2012
Entrez Id: 5313
Gene Symbol: PKLR
PKLR
0.300 Biomarker group GENOMICS_ENGLAND Mutations in pyruvate kinase. 8664896 1996
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
0.400 GeneticVariation group BEFREE Mutations in the gene encoding G6PD cause the most common enzymopathy that drives hereditary nonspherocytic hemolytic anemia. 29072585 2017
Entrez Id: 2937
Gene Symbol: GSS
GSS
0.310 Biomarker group GENOMICS_ENGLAND Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. 8896573 1996
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
0.400 Biomarker group BEFREE New evidence has been presented to suggest that malaria is a selective agent for G6PD deficiency, which is the most common enzymopathy in man, and that G6PD deficiency, generally considered to be a mild and benign condition, is significantly disadvantageous in certain environmental conditions. 8760336 1996