SLC11A2, solute carrier family 11 member 2, 4891

N. diseases: 99; N. variants: 13
Disease: Anemia, Hypochromic Microcytic, With Iron Overload ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2673913
Disease: Anemia, Hypochromic Microcytic, With Iron Overload
Anemia, Hypochromic Microcytic, With Iron Overload 		0.630 GeneticVariation disease BEFREE Mutations in the human SLC11A2 gene coding DMT1 lead to microcytic anemia and hepatic iron overload, with unexpectedly low levels of plasma ferritin in the presence of iron stores. 21871825 2011
CUI: C2673913
Disease: Anemia, Hypochromic Microcytic, With Iron Overload
Anemia, Hypochromic Microcytic, With Iron Overload 		0.630 GermlineCausalMutation disease ORPHANET Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2). 16160008 2006
CUI: C2673913
Disease: Anemia, Hypochromic Microcytic, With Iron Overload
Anemia, Hypochromic Microcytic, With Iron Overload 		0.630 GeneticVariation disease BEFREE A novel R416C mutation in human DMT1 (SLC11A2) displays pleiotropic effects on function and causes microcytic anemia and hepatic iron overload. 16584902 2006
CUI: C2673913
Disease: Anemia, Hypochromic Microcytic, With Iron Overload
Anemia, Hypochromic Microcytic, With Iron Overload 		0.630 GeneticVariation disease BEFREE Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2). 16160008 2006
CUI: C2673913
Disease: Anemia, Hypochromic Microcytic, With Iron Overload
Anemia, Hypochromic Microcytic, With Iron Overload 		0.630 GermlineCausalMutation disease ORPHANET Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload. 16439678 2006
CUI: C2673913
Disease: Anemia, Hypochromic Microcytic, With Iron Overload
Anemia, Hypochromic Microcytic, With Iron Overload 		0.630 Biomarker disease CTD_human
CUI: C2673913
Disease: Anemia, Hypochromic Microcytic, With Iron Overload
Anemia, Hypochromic Microcytic, With Iron Overload 		0.630 CausalMutation disease CLINVAR