GPI, glucose-6-phosphate isomerase, 2821

N. diseases: 218; N. variants: 33
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs757341382
rs757341382
Entrez Id: 2821
Gene Symbol: GPI
GPI
CUI: C3150730
Disease:
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		0.700 GeneticVariation 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
dbSNP: rs757341382
rs757341382
Entrez Id: 2821
Gene Symbol: GPI
GPI
CUI: C3150730
Disease:
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		0.700 GeneticVariation UNIPROT Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency. 9856489 1998
dbSNP: rs757341382
rs757341382
Entrez Id: 2821
Gene Symbol: GPI
GPI
CUI: C3150730
Disease:
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		0.700 GeneticVariation UNIPROT Glucosephosphate isomerase (GPI) deficiency mutations associated with hereditary nonspherocytic hemolytic anemia (HNSHA). 9446754 1997
dbSNP: rs757341382
rs757341382
Entrez Id: 2821
Gene Symbol: GPI
GPI
CUI: C3150730
Disease:
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		0.700 GeneticVariation UNIPROT Study of the molecular defects in glucose phosphate isomerase-deficient patients affected by chronic hemolytic anemia. 8822952 1996
dbSNP: rs757341382
rs757341382
Entrez Id: 2821
Gene Symbol: GPI
GPI
CUI: C3150730
Disease:
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		0.700 GeneticVariation UNIPROT Molecular analysis of glucose phosphate isomerase deficiency associated with hereditary hemolytic anemia. 8822954 1996
dbSNP: rs757341382
rs757341382
Entrez Id: 2821
Gene Symbol: GPI
GPI
CUI: C3150730
Disease:
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		0.700 GeneticVariation UNIPROT The characterization of gene mutations for human glucose phosphate isomerase deficiency associated with chronic hemolytic anemia. 7989588 1994
dbSNP: rs757341382
rs757341382
Entrez Id: 2821
Gene Symbol: GPI
GPI
CUI: C3150730
Disease:
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		0.700 GeneticVariation UNIPROT DNA sequence abnormalities in human glucose 6-phosphate isomerase deficiency. 8499925 1993