GPI, glucose-6-phosphate isomerase, 2821

N. diseases: 218; N. variants: 33
Disease: Nonspherocytic hemolytic anemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4025735
Disease: Nonspherocytic hemolytic anemia
Nonspherocytic hemolytic anemia 		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
CUI: C4025735
Disease: Nonspherocytic hemolytic anemia
Nonspherocytic hemolytic anemia 		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
CUI: C4025735
Disease: Nonspherocytic hemolytic anemia
Nonspherocytic hemolytic anemia 		0.120 Biomarker disease HPO