Source: ALL
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.700 | GeneticVariation | UNIPROT | Study of the molecular defects in glucose phosphate isomerase-deficient patients affected by chronic hemolytic anemia. | 8822952 | 1996 |
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0.700 | GeneticVariation | UNIPROT | Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency. | 9856489 | 1998 |
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0.700 | GeneticVariation | UNIPROT | Molecular analysis of glucose phosphate isomerase deficiency associated with hereditary hemolytic anemia. | 8822954 | 1996 |
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0.700 | GeneticVariation | UNIPROT | Glucosephosphate isomerase (GPI) deficiency mutations associated with hereditary nonspherocytic hemolytic anemia (HNSHA). | 9446754 | 1997 |
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|
0.700 | GeneticVariation | UNIPROT | The characterization of gene mutations for human glucose phosphate isomerase deficiency associated with chronic hemolytic anemia. | 7989588 | 1994 |
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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 |
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|
0.700 | GeneticVariation | UNIPROT | DNA sequence abnormalities in human glucose 6-phosphate isomerase deficiency. | 8499925 | 1993 |