Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61754634
rs61754634
GPI
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: rs61754634
rs61754634
GPI
0.800 GeneticVariation UNIPROT Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency. 9856489

1998
dbSNP: rs61754634
rs61754634
GPI
0.800 GeneticVariation UNIPROT Glucosephosphate isomerase (GPI) deficiency mutations associated with hereditary nonspherocytic hemolytic anemia (HNSHA). 9446754

1997
dbSNP: rs61754634
rs61754634
GPI
0.800 GeneticVariation UNIPROT Study of the molecular defects in glucose phosphate isomerase-deficient patients affected by chronic hemolytic anemia. 8822952

1996
dbSNP: rs61754634
rs61754634
GPI
0.800 GeneticVariation UNIPROT Molecular analysis of glucose phosphate isomerase deficiency associated with hereditary hemolytic anemia. 8822954

1996
dbSNP: rs61754634
rs61754634
GPI
0.800 GeneticVariation UNIPROT The characterization of gene mutations for human glucose phosphate isomerase deficiency associated with chronic hemolytic anemia. 7989588

1994
dbSNP: rs61754634
rs61754634
GPI
0.800 GeneticVariation UNIPROT DNA sequence abnormalities in human glucose 6-phosphate isomerase deficiency. 8499925

1993
dbSNP: rs61754634
rs61754634
GPI
T 0.800 CausalMutation CLINVAR