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 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 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 GeneticVariation disease BEFREE Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2). 16160008 2006
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 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 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 AlteredExpression disease BEFREE We investigated the expression of NRAMP-2 in patients with hereditary haemochromatosis. 10382697 1999
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 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 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 PosttranslationalModification disease BEFREE Our study did not find evidence for the involvement of the Nramp2 gene in hereditary hemochromatosis. 11042033 2000
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.350 GeneticVariation disease BEFREE The purpose of the present study was to analyze the coding region of the Nramp2 gene in 14 hemochromatosis probands which did not carry any HFE mutations on both chromosomes. 11042033 2000
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.350 AlteredExpression disease BEFREE In iron deficiency a coordinated upregulation of the iron transporters divalent-metal-transporter-1 and ferroportin and of duodenal-cytochrome b and hephaestin was found, whereas in patients with HFE and non-HFE-associated hemochromatosis duodenal-cytochrome b and hephaestin protein and mRNA expression were not significantly different from control subjects. 12949720 2003
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.350 Biomarker disease BEFREE These control sites may be influenced by gene therapeutic approaches; one general therapy for hemochromatosis of different etiologies is the inhibition of DMT1 synthesis by antisense-generating genes, which has been shown to markedly inhibit apical iron uptake by intestinal epithelial cells. 16629172 2006
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.350 GeneticVariation disease BEFREE These data suggest that mutations in nramp2 are not commonly associated with hemochromatosis. 9642100 1998
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
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia 		0.350 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: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia 		0.350 GeneticVariation disease BEFREE After excluding all known causes responsible for iron deficiency anaemia we searched for mutations in SLC11A2 and TMPRSS6 that could explain the severe anaemia in these children. 22509377 2012
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia 		0.350 AlteredExpression disease BEFREE Subjects with iron-deficiency anemia showed a significant increase in expression of the spliced form, DCT1(IRE) mRNA. 11897618 2002
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia 		0.350 Biomarker disease BEFREE Collectively, these observations show that intestinal DMT1 is essential for the assimilation of sufficient quantities of dietary copper to maintain systemic copper homeostasis during IDA. 30137476 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.310 Biomarker disease BEFREE A pharmacological inhibitor of DMT1 antagonized the ability of iron to promote tumor growth in a CRC mouse model and a patient-derived CRC enteroid orthotopic model. 27546461 2016
CUI: C0007786
Disease: Brain Ischemia
Brain Ischemia 		0.210 AlteredExpression disease BEFREE Our data showed that 1B/(-)IRE DMT1 expression and intracellular iron influx are early downstream responses to NF-κB/RelA activation and acetylation during brain ischemia and contribute to the pathogenesis of stroke-induced neuronal damage. 22666436 2012