Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2821
Gene Symbol: GPI
GPI
0.120 Biomarker disease HPO
Entrez Id: 3098
Gene Symbol: HK1
HK1
0.110 Biomarker disease HPO
Entrez Id: 3040
Gene Symbol: HBA2
HBA2
0.100 Biomarker disease HPO
Entrez Id: 3039
Gene Symbol: HBA1
HBA1
0.100 Biomarker disease HPO
Entrez Id: 226
Gene Symbol: ALDOA
ALDOA
0.100 Biomarker disease HPO
Entrez Id: 669
Gene Symbol: BPGM
BPGM
0.100 Biomarker disease HPO
Entrez Id: 3043
Gene Symbol: HBB
HBB
0.100 Biomarker disease HPO
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
0.100 GeneticVariation disease BEFREE Glucose-6-phosphate dehydrogenase aveiro: a de novo mutation associated with chronic nonspherocytic hemolytic anemia. 10666231 2000
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
0.100 GeneticVariation disease BEFREE G6PD Sumaré is a variant causing chronic nonspherocytic hemolytic anemia. 12737938 2004
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
0.100 GeneticVariation disease BEFREE G-6-PD Guadalajara. A new mutant associated with chronic nonspherocytic hemolytic anemia. 7129446 1982
Entrez Id: 8266
Gene Symbol: UBL4A
UBL4A
0.010 GeneticVariation disease BEFREE G-6-PD Guadalajara. A new mutant associated with chronic nonspherocytic hemolytic anemia. 7129446 1982
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
0.100 GeneticVariation disease BEFREE A glucose-6-phosphate dehydrogenase (G6PD) variant was studied in a mulatto patient with chronic nonspherocytic hemolytic anemia. 7123903 1982
Entrez Id: 2821
Gene Symbol: GPI
GPI
0.120 GeneticVariation disease BEFREE A missense homozygous mutation was found inglucose-6-phosphate isomerase, GPI [c.1040G>A (p.Arg347His), rs137853583] which results in nonspherocytic hemolytic anemia. 28223188 2017
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
0.100 GeneticVariation disease BEFREE A new glucose-6-phosphate dehydrogenase (G6PD) variant associated with chronic nonspherocytic hemolytic anemia was found in a 20-year-old Japanese male who showed mild hemolysis after an upper respiratory tract infection. 3360447 1988
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
0.100 GeneticVariation disease BEFREE A new glucose-6-phosphate dehydrogenase (G6PD) variant associated with chronic nonspherocytic hemolytic anemia was discovered. 6654337 1983
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
0.100 GeneticVariation disease BEFREE A new glucose-6-phosphate dehydrogenase (G6PD) variant associated with chronic nonspherocytic hemolytic anemia was reported. 7166314 1982
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
0.100 GeneticVariation disease BEFREE A new variant of G6PD with total enzyme deficiency associated with nonspherocytic hemolytic anemia in a 60 year old Frenchman is characterized. 7450748 1980
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
0.100 GeneticVariation disease BEFREE A novel mutation in the glucose-6-phosphate dehydrogenase gene in a subject with chronic nonspherocytic hemolytic anemia--characterization of enzyme using yeast expression system and molecular modeling. 14757426 2004
Entrez Id: 3098
Gene Symbol: HK1
HK1
0.110 Biomarker disease BEFREE Among glycolytic enzyme defects, hexokinase (ATP: D-hexose 6-phosphotransferase, EC 2.7.1.1; HK) deficiency is a very rare disease where the predominant clinical effect is nonspherocytic hemolytic anemia. 7655856 1995
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
0.100 Biomarker disease BEFREE Glucose-6-phosphate dehydrogenase (G6PD) deficiency in humans causes severe disease, varying from mostly asymptomatic individuals to patients showing neonatal jaundice, acute hemolysis episodes or chronic nonspherocytic hemolytic anemia. 27213370 2016
Entrez Id: 5313
Gene Symbol: PKLR
PKLR
0.030 GeneticVariation disease BEFREE Human erythrocyte R-type pyruvate kinase deficiency (PKD) is a disorder caused by mutations in the PKLR gene that produces chronic nonspherocytic hemolytic anemia. 19755962 2009
Entrez Id: 5313
Gene Symbol: PKLR
PKLR
0.030 GeneticVariation disease BEFREE Life-threatening nonspherocytic hemolytic anemia in a patient with a null mutation in the PKLR gene and no compensatory PKM gene expression. 15870173 2005
Entrez Id: 5315
Gene Symbol: PKM
PKM
0.010 GeneticVariation disease BEFREE Life-threatening nonspherocytic hemolytic anemia in a patient with a null mutation in the PKLR gene and no compensatory PKM gene expression. 15870173 2005
Entrez Id: 2821
Gene Symbol: GPI
GPI
0.120 Biomarker disease BEFREE Molecular characteristics of red blood cell (RBC) glucose phosphate isomerase (GPI) deficiency are described in two Spanish patients with chronic nonspherocytic hemolytic anemia. 17041899 2006
Entrez Id: 4907
Gene Symbol: NT5E
NT5E
0.010 Biomarker disease BEFREE Pyrimidine-5-nucleotidase (P5'N-1) deficiency is a rare nonspherocytic hemolytic anemia due to pyrimidine nucleotide deposition within erythrocytes. 30951028 2019