Source: CURATED ×
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 GENOMICS_ENGLAND Glucose-6-phosphate dehydrogenase deficiency. 18177777 2008
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: 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: 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: 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: 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