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: rs267606852
rs267606852
Entrez Id: 2821
Gene Symbol: GPI
GPI
CUI: C3150730
Disease:
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		T 0.800 CausalMutation CLINVAR
dbSNP: rs267606852
rs267606852
Entrez Id: 2821
Gene Symbol: GPI
GPI
CUI: C3150730
Disease:
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		0.800 GeneticVariation UNIPROT Molecular analysis of glucose phosphate isomerase deficiency associated with hereditary hemolytic anemia. 8822954 1996
dbSNP: rs267606852
rs267606852
Entrez Id: 2821
Gene Symbol: GPI
GPI
CUI: C3150730
Disease:
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		0.800 GeneticVariation UNIPROT Study of the molecular defects in glucose phosphate isomerase-deficient patients affected by chronic hemolytic anemia. 8822952 1996
dbSNP: rs267606852
rs267606852
Entrez Id: 2821
Gene Symbol: GPI
GPI
CUI: C3150730
Disease:
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		0.800 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: rs267606852
rs267606852
Entrez Id: 2821
Gene Symbol: GPI
GPI
CUI: C3150730
Disease:
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		0.800 GeneticVariation UNIPROT DNA sequence abnormalities in human glucose 6-phosphate isomerase deficiency. 8499925 1993
dbSNP: rs267606852
rs267606852
Entrez Id: 2821
Gene Symbol: GPI
GPI
CUI: C3150730
Disease:
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		0.800 GeneticVariation UNIPROT Glucosephosphate isomerase (GPI) deficiency mutations associated with hereditary nonspherocytic hemolytic anemia (HNSHA). 9446754 1997
dbSNP: rs267606852
rs267606852
Entrez Id: 2821
Gene Symbol: GPI
GPI
CUI: C3150730
Disease:
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		0.800 GeneticVariation UNIPROT Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency. 9856489 1998
dbSNP: rs267606852
rs267606852
Entrez Id: 2821
Gene Symbol: GPI
GPI
CUI: C3150730
Disease:
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		0.800 GeneticVariation UNIPROT The characterization of gene mutations for human glucose phosphate isomerase deficiency associated with chronic hemolytic anemia. 7989588 1994