×
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
Enzymopathy
0.400
Biomarker
GENOMICS_ENGLAND
Glucose-6-phosphate dehydrogenase deficiency.
18177777 2008
×
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
Enzymopathy
0.400
Biomarker
GENOMICS_ENGLAND
DNA sequence abnormalities of human glucose-6-phosphate dehydrogenase variants.
1999409 1991
×
Entrez Id: 7167
Gene Symbol: TPI1
TPI1
Enzymopathy
0.330
Biomarker
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
Enzymopathy
0.330
Biomarker
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
Enzymopathy
0.310
Biomarker
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
Enzymopathy
0.310
Biomarker
GENOMICS_ENGLAND
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria.
8896573 1996
×
Entrez Id: 9493
Gene Symbol: KIF23
KIF23
Enzymopathy
0.300
Biomarker
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
Enzymopathy
0.300
Biomarker
GENOMICS_ENGLAND
The molecular basis of a case of gamma-glutamylcysteine synthetase deficiency.
10515893 1999
×
Entrez Id: 2729
Gene Symbol: GCLC
GCLC
Enzymopathy
0.300
Biomarker
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
Enzymopathy
0.300
Biomarker
GENOMICS_ENGLAND
Mutations in pyruvate kinase.
8664896 1996
×
Entrez Id: 226
Gene Symbol: ALDOA
ALDOA
Enzymopathy
0.300
Biomarker
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
Enzymopathy
0.300
Biomarker
GENOMICS_ENGLAND
Hereditary spherocytic anemia with deletion of the short arm of chromosome 8.
8533822 1995
×
Entrez Id: 2936
Gene Symbol: GSR
GSR
Enzymopathy
0.300
Biomarker
GENOMICS_ENGLAND
Hereditary spherocytic anemia with deletion of the short arm of chromosome 8.
8533822 1995
×
Entrez Id: 3098
Gene Symbol: HK1
HK1
Enzymopathy
0.300
Biomarker
GENOMICS_ENGLAND
Hexokinase mutations that produce nonspherocytic hemolytic anemia.
7655856 1995
×
Entrez Id: 5313
Gene Symbol: PKLR
PKLR
Enzymopathy
0.300
Biomarker
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
Enzymopathy
0.300
Biomarker
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
Enzymopathy
0.300
Biomarker
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
Enzymopathy
0.300
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 2023
Gene Symbol: ENO1
ENO1
Enzymopathy
0.300
Biomarker
GENOMICS_ENGLAND