Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 22934
Gene Symbol: RPIA
RPIA
0.010 Biomarker group BEFREE Ribose 5-phosphate isomerase (RPI) deficiency is an enzymopathy of the pentose phosphate pathway. 20499043 2010
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: 51251
Gene Symbol: NT5C3A
NT5C3A
0.010 GeneticVariation group BEFREE Two new mutations of the P5'N-1 gene found in Italian patients with hereditary hemolytic anemia: the molecular basis of the red cell enzyme disorder. 16956825 2006
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: 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: 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: 2821
Gene Symbol: GPI
GPI
0.020 Biomarker group BEFREE Glucose-6-phosphate isomerase (GPI) deficiency, a genetic disorder responsible for chronic nonspherocytic hemolytic anemia, is the second most common red blood cell glycolytic enzymopathy. 28803808 2018
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: 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: 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: 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: 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: 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: 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: 2937
Gene Symbol: GSS
GSS
0.310 AlteredExpression group BEFREE The family study revealed GSH-S activity in both parents to be around half the normal level, a finding consistent with the presumed autosomal recessive mode of inheritance of this enzymopathy. 11167850 2001
Entrez Id: 2937
Gene Symbol: GSS
GSS
0.310 Biomarker group GENOMICS_ENGLAND The family study revealed GSH-S activity in both parents to be around half the normal level, a finding consistent with the presumed autosomal recessive mode of inheritance of this enzymopathy. 11167850 2001
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: 7167
Gene Symbol: TPI1
TPI1
0.330 Biomarker group BEFREE Triose phosphate isomerase (TPI) deficiency glycolytic enzymopathy is a progressive neurodegenerative condition that remains poorly understood. 18458110 2008
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 Biomarker group GENOMICS_ENGLAND Distinct behavior of mutant triosephosphate isomerase in hemolysate and in isolated form: molecular basis of enzyme deficiency. 11698297 2001