Gene: GPI ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2821
Gene Symbol: GPI
GPI 		0.700 GeneticVariation disease UNIPROT Two novel mutations (p.(Ser160Pro) and p.(Arg472Cys)) causing glucose-6-phosphate isomerase deficiency are associated with erythroid dysplasia and inappropriately suppressed hepcidin. 28803808 2018
Entrez Id: 2821
Gene Symbol: GPI
GPI 		0.700 GermlineCausalMutation disease ORPHANET Hereditary non-spherocytic hemolytic anemia and severe glucose phosphate isomerase deficiency in an Indian patient homozygous for the L487F mutation in the human GPI gene. 22782259 2012
Entrez Id: 2821
Gene Symbol: GPI
GPI 		0.700 GeneticVariation disease UNIPROT Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency. 9856489 1998
Entrez Id: 2821
Gene Symbol: GPI
GPI 		0.700 GermlineCausalMutation disease ORPHANET Glucosephosphate isomerase (GPI) deficiency mutations associated with hereditary nonspherocytic hemolytic anemia (HNSHA). 9446754 1997
Entrez Id: 2821
Gene Symbol: GPI
GPI 		0.700 GeneticVariation disease UNIPROT Glucosephosphate isomerase (GPI) deficiency mutations associated with hereditary nonspherocytic hemolytic anemia (HNSHA). 9446754 1997
Entrez Id: 2821
Gene Symbol: GPI
GPI 		0.700 GeneticVariation disease UNIPROT Study of the molecular defects in glucose phosphate isomerase-deficient patients affected by chronic hemolytic anemia. 8822952 1996
Entrez Id: 2821
Gene Symbol: GPI
GPI 		0.700 GeneticVariation disease UNIPROT Molecular analysis of glucose phosphate isomerase deficiency associated with hereditary hemolytic anemia. 8822954 1996
Entrez Id: 2821
Gene Symbol: GPI
GPI 		0.700 GeneticVariation disease UNIPROT The characterization of gene mutations for human glucose phosphate isomerase deficiency associated with chronic hemolytic anemia. 7989588 1994
Entrez Id: 2821
Gene Symbol: GPI
GPI 		0.700 GeneticVariation disease UNIPROT DNA sequence abnormalities in human glucose 6-phosphate isomerase deficiency. 8499925 1993
Entrez Id: 2821
Gene Symbol: GPI
GPI 		0.700 Biomarker disease GENOMICS_ENGLAND Generalised glucosephosphate isomerase (GPI) deficiency causing haemolytic anaemia, neuromuscular symptoms and impairment of granulocytic function: a new syndrome due to a new stable GPI variant with diminished specific activity (GPI Homburg). 4076245 1985
Entrez Id: 2821
Gene Symbol: GPI
GPI 		0.700 Biomarker disease GENOMICS_ENGLAND Genetic and molecular mechanisms of the congenital defects in glucose phosphate isomerase activity: studies of four families. 411100 1977
Entrez Id: 2821
Gene Symbol: GPI
GPI 		0.700 CausalMutation disease CLINVAR
Entrez Id: 2821
Gene Symbol: GPI
GPI 		0.700 GeneticVariation disease CLINVAR
Entrez Id: 2821
Gene Symbol: GPI
GPI 		0.700 Biomarker disease CTD_human