SLC11A2, solute carrier family 11 member 2, 4891

N. diseases: 99; N. variants: 13
Disease: Iron Overload ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918367
rs121918367
Entrez Id: 4891
Gene Symbol: SLC11A2
SLC11A2
CUI: C0282193
Disease:
Iron Overload 		0.010 GeneticVariation BEFREE Our data confirm the major role of DMT1 in the maintenance of iron homeostasis in humans and demonstrate that the N491S mutation, through its deleterious effect on protein trafficking, contributes together with the G212V mutation to the development of anemia and hepatic iron overload. 21871825 2011