rs1364382189, GPI

N. diseases: 2
Disease: Glucose phosphate isomerase deficiency ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Glucose phosphate isomerase deficiency
CUI: C0398561
Disease: Glucose phosphate isomerase deficiency
0.010 GeneticVariation BEFREE 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