SLC11A2, solute carrier family 11 member 2, 4891

N. diseases: 99; N. variants: 13
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
CUI: C3806153
Disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1
ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1 		0.500 GeneticVariation disease UNIPROT Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload. 16439678 2006
CUI: C3806153
Disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1
ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1 		0.500 Biomarker disease GENOMICS_ENGLAND Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload. 16439678 2006
CUI: C3806153
Disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1
ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1 		0.500 GeneticVariation disease UNIPROT Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2). 16160008 2006
CUI: C3806153
Disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1
ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1 		0.500 Biomarker disease GENOMICS_ENGLAND Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload. 15459009 2005
CUI: C3806153
Disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1
ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1 		0.500 GeneticVariation disease UNIPROT Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload. 15459009 2005
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 Biomarker disease BEFREE Hence, intestinal Dmt1 is required for the excessive iron absorption that typifies HH. 30713087 2019
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 Biomarker disease BEFREE The principal or only intestinal nonheme-iron transporter, DMT1 is a validated therapeutic target in hereditary hemochromatosis (HHC) and other iron-overload disorders. 23177986 2012
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 AlteredExpression disease BEFREE In summary, phlebotomy is associated with upregulation of DMT1(IRE) expression in HH subjects. 19892936 2010
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 AlteredExpression disease BEFREE A therapeutic approach for HH could start with a long-term reduction of iron transport by reduction of DMT-1 levels. 15896335 2005
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 GeneticVariation disease BEFREE Polymorphisms within DMT1 gene do not influence penetrance of the HH phenotype. 15223008 2005
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 AlteredExpression disease BEFREE DMT1 expression was significantly increased in HH patients who had undergone phlebotomy therapy (treated) and in patients with ID compared with controls. 15247188 2004
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 Biomarker disease BEFREE An increased duodenal expression of the iron transporters, divalent-metal-transporter-1, and ferroportin is observed in patients with iron deficiency or hereditary hemochromatosis. 12949720 2003
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 AlteredExpression disease BEFREE In HFE associated hereditary haemochromatosis, the duodenal enterocyte behaves as if iron deficient and previous reports have shown increased duodenal expression of divalent metal transporter 1 (DMT1) and iron regulated gene 1 (Ireg1) in affected subjects. 12801950 2003
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 AlteredExpression disease BEFREE In contrast, DMT-1 mRNA levels were at least twofold greater in patients with hereditary hemochromatosis and iron deficiency anemia when compared to controls (P = 0.02, P = 0.01, respectively). 12547214 2003
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 Biomarker disease CTD_human Divalent metal transporter 1 (DMT1) is a transmembrane, proton-coupled metal ion transporter that is upregulated in the duodenum of iron-deficient rodents and in hereditary hemochromatosis patients, suggesting that it may constitute a key factor in the uptake of dietary iron. 11439223 2001
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 PosttranslationalModification disease BEFREE Our study did not find evidence for the involvement of the Nramp2 gene in hereditary hemochromatosis. 11042033 2000
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 AlteredExpression disease BEFREE We investigated the expression of NRAMP-2 in patients with hereditary haemochromatosis. 10382697 1999
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia 		0.350 Biomarker disease BEFREE Initial experiments using duodenal epithelial organ cultures from intestine-specific Dmt1 knockout (KO) (Dmt1<sup>int/int</sup>) mice in the Ussing chamber established that Dmt1 is the only active iron importer during iron-deficiency anemia. 30713087 2019