GPI, glucose-6-phosphate isomerase, 2821

N. diseases: 218; N. variants: 33
Disease: Anemia, Hemolytic, Congenital Nonspherocytic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002882
Disease: Anemia, Hemolytic, Congenital Nonspherocytic
Anemia, Hemolytic, Congenital Nonspherocytic 		0.240 GeneticVariation disease BEFREE Glucose-6-phosphate isomerase (GPI) deficiency is very rare, but one of the most common erythroenzymopathies, causing hereditary nonspherocytic hemolytic anemia. 30585945 2019
CUI: C0002882
Disease: Anemia, Hemolytic, Congenital Nonspherocytic
Anemia, Hemolytic, Congenital Nonspherocytic 		0.240 Biomarker disease BEFREE Thirty-five patients were screened for GPI deficiency in the HNSHA patient group; some were having neurological dysfunction. 31030358 2019
CUI: C0002882
Disease: Anemia, Hemolytic, Congenital Nonspherocytic
Anemia, Hemolytic, Congenital Nonspherocytic 		0.240 Biomarker disease BEFREE Glucose-6-phosphate isomerase (GPI) deficiency cause hereditary nonspherocytic hemolytic anemia (HNSHA) of variable severity in individuals homozygous or compound heterozygous for mutations in GPI gene. 27519939 2016
CUI: C0002882
Disease: Anemia, Hemolytic, Congenital Nonspherocytic
Anemia, Hemolytic, Congenital Nonspherocytic 		0.240 GeneticVariation disease BEFREE Red cell glucose phosphate isomerase (GPI): a molecular study of three novel mutations associated with hereditary nonspherocytic hemolytic anemia. 17041899 2006
CUI: C0002882
Disease: Anemia, Hemolytic, Congenital Nonspherocytic
Anemia, Hemolytic, Congenital Nonspherocytic 		0.240 Biomarker disease MGD Glucose-6-phosphate isomerase deficiency associated with nonspherocytic hemolytic anemia in the mouse: an animal model for the human disease. 8417789 1993
CUI: C0002882
Disease: Anemia, Hemolytic, Congenital Nonspherocytic
Anemia, Hemolytic, Congenital Nonspherocytic 		0.240 Biomarker disease MGD Glucose phosphate isomerase enzyme-activity mutants in Mus musculus: genetical and biochemical characterization. 2344351 1990