Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 226
Gene Symbol: ALDOA
ALDOA
0.300 Biomarker group GENOMICS_ENGLAND Two cases of red cell aldolase deficiency associated with hereditary hemolytic anemia in a Japanese family. 7331996 1981
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: 1312
Gene Symbol: COMT
COMT
0.010 AlteredExpression group BEFREE The higher COMT activity in DS subjects may reflect a situation of general enzyme disorder only indirectly connected with trisomy of chromosome 21. 3160238 1985
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: 2023
Gene Symbol: ENO1
ENO1
0.300 Biomarker group GENOMICS_ENGLAND
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: 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; more than 300 different biochemical variants of the enzyme have been described. 2393028 1990
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) deficiency is the most common red cell enzymopathy among humans. 18043863 2008
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 Glucose-6-phosphate dehydrogenase (G6PD) is the most common form of enzymopathy. 27378307 2017
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 Biomarker group BEFREE Glucose-6-phosphate dehydrogenase (G6PD) is the most common human enzymopathy. 10364676 1999
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
0.400 Biomarker group BEFREE Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common hereditary enzyme disorder and more than 200 million people have a deficiency in this enzyme. 1418767 1992
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
0.400 Biomarker group BEFREE Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymopathy worldwide. 29929514 2018
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 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: 2539
Gene Symbol: G6PD
G6PD
0.400 Biomarker group BEFREE Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy. 12064920 2003
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
0.400 Biomarker group BEFREE Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the commonest enzymopathy worldwide. 28099116 2017
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: 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: 2539
Gene Symbol: G6PD
G6PD
0.400 Biomarker group BEFREE Glucose-6-phosphate dehydrogenase (G6PD) deficiency--the most common known enzymopathy--is associated with neonatal jaundice and hemolytic anemia usually after exposure to certain infections, foods, or medications. 20007901 2009
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
0.400 Biomarker group GENOMICS_ENGLAND Glucose-6-phosphate dehydrogenase deficiency. 18177777 2008
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
0.400 GeneticVariation group BEFREE Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common hereditary enzymopathy among Southeast Asians. 16155737 2005
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
0.400 GeneticVariation group BEFREE Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common polymorphism and enzymopathy in humans, affecting approximately 400 million people worldwide. 28583873 2017