Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.100 GeneticVariation disease BEFREE Iron accumulation after SCI resulted in the upregulation of transferrin receptor (TfR) and divalent metal transporter1 (DMT1), which exacerbated the intracellular iron overload. 31518742 2019
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.100 Biomarker disease BEFREE Tfr1, Dmt1, ferritin and ferroportin1 exist in bone tissue of rats, and they may be involved in the pathological process of iron overload-induced bone lesion. 30027360 2018
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.100 Biomarker disease BEFREE An altered pattern of iron transporters with iron overload is highlighted in BPAN human fibroblasts, supporting for a role of DMT1 in NBIA. 28261264 2017
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.100 Biomarker disease BEFREE Treatment with LTCC, TTCC, DMT1 blockers, and DFO reduced cardiac iron deposit, cardiac malondialdehyde (MDA), plasma non-transferrin-bound iron, and improved heart rate variability and left ventricular (LV) function in thalassemic mice with iron overload. 22404220 2012
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.100 GeneticVariation disease 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
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.100 GeneticVariation disease BEFREE Not all DMT1 mutations lead to iron overload. 19553145 2009
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.100 GeneticVariation disease BEFREE This activity may explain the distinguishing iron overload seen in this patient in addition to microcytic anemia that is absent in parallel rodent models of DMT1 deficiency. 16023393 2006
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.100 GeneticVariation disease BEFREE We propose that DMT1(C1246T) (R416C) represents a complete loss-of-function, and that a quantitative reduction in DMT1 expression is the cause of the microcytic anemia and iron overload in the patient. 16584902 2006
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.100 GeneticVariation disease BEFREE We report a compound heterozygote for 2 new DMT1 mutations, associated with microcytic anemia from birth and progressive liver iron overload. 16439678 2006
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.100 AlteredExpression disease BEFREE The importance of DMT1 function at the level of the whole organism and the individual cell and mechanisms of its regulation on a molecular scale are only beginning to be understood; an appreciation of these process will lead to an understanding of the role of iron in various cellular processes and improved treatments for both anemia and iron-overload. 16085548 2005
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.100 GeneticVariation disease BEFREE Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload. 15459009 2005
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.100 GeneticVariation disease BEFREE We investigated whether genetic variability within the DMT1 gene may partly explain the phenotypic variability seen amongst a group of C282Y homozygotes with iron overload. 15223008 2005
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.100 AlteredExpression disease BEFREE Increased expression of DMT1 may play an important role in the pathogenesis of cirrhosis-associated hepatic iron overload. 14768003 2004
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.100 AlteredExpression disease BEFREE In conclusion, the lack of correlation between DMT1 and Ireg1 protein expression and the liver iron content suggests that elevated duodenal iron transporter expression is not required for high liver iron overload. 14618243 2004
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.100 Biomarker disease BEFREE The identification of the HFE gene and the apical iron transporter divalent metal transporter-1, DMT-1, provide a direct method to address the mechanisms of iron overload in this disease. 12547214 2003