Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1
0.300 Biomarker group GENOMICS_ENGLAND
Entrez Id: 2023
Gene Symbol: ENO1
ENO1
0.300 Biomarker group GENOMICS_ENGLAND
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 Two cases of red cell aldolase deficiency associated with hereditary hemolytic anemia in a Japanese family. 7331996 1981
Entrez Id: 9493
Gene Symbol: KIF23
KIF23
0.300 Biomarker group GENOMICS_ENGLAND [Congenital dyserythropoiesis with erythroblastic polyploidy. Report of a variety found in Argentinian Mesopotamia (author's transl)]. 7323912 1981
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: 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: 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 GENOMICS_ENGLAND DNA sequence abnormalities of human glucose-6-phosphate dehydrogenase variants. 1999409 1991
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: 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, 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 Biomarker group GENOMICS_ENGLAND Triosephosphate isomerase deficiency: repetitive occurrence of point mutation in amino acid 104 in multiple apparently unrelated families. 7485100 1995
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: 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
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: 2729
Gene Symbol: GCLC
GCLC
0.300 Biomarker group GENOMICS_ENGLAND Three cases of hereditary nonspherocytic hemolytic anemia associated with red blood cell glutathione deficiency. 8634459 1996
Entrez Id: 5313
Gene Symbol: PKLR
PKLR
0.300 Biomarker group GENOMICS_ENGLAND Mutations in pyruvate kinase. 8664896 1996
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: 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: 2729
Gene Symbol: GCLC
GCLC
0.300 Biomarker group GENOMICS_ENGLAND The molecular basis of a case of gamma-glutamylcysteine synthetase deficiency. 10515893 1999
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 Biomarker group BEFREE Glucose-6-phosphate dehydrogenase A- (G6PD A-) deficiency is a common enzymopathy in Africa that sporadically leads to manifest haemolytic anaemia. 10747271 2000