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: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		0.100 Biomarker phenotype HPO
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		0.100 Biomarker phenotype HPO
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.010 AlteredExpression disease BEFREE At the mRNA level, expressions of DMT1, FPN1 and TFR1 genes were significantly increased in ALD. 24894955 2014
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 GeneticVariation disease BEFREE In this work, we searched for an association between some single nucleotide polymorphisms in the divalent metal transporter 1 (DMT1) gene intronic IVS4+44C>A (rs224589) and 3'-UTR c.2044T>C (rs2285230) and environmental factors and AMD. 22371024 2012
CUI: C0001857
Disease: AIDS related complex
AIDS related complex 		0.010 GeneticVariation disease BEFREE The present investigated the genetic association between DMT1 gene polymorphisms and risk of ARC. 30870050 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.060 Biomarker disease BEFREE The present study aims to evaluate whether Ndfip1 is involved in AD pathogenesis through mediating DMT1 degradation and iron metabolism. 29937728 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.060 Biomarker disease BEFREE These findings suggest both that DMT1 plays a critical role in ion-mediated neuropathogenesis in AD and that pharmacological blockage of DMT1 may provide novel therapeutic strategies against AD. 19679638 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.060 Biomarker disease BEFREE We conclude that in AD damage occurs in conjunction with iron accumulation, and the brain iron load associated with loss control of the brain iron metabolism related protein DMT1 and FPN1 expressions. 25575693 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.060 Biomarker disease BEFREE No other associations with AD were observed at SLC11A1 or SLC11A2, indicating no major effect of either gene for the occurrence of AD. 15644277 2005
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.060 AlteredExpression disease BEFREE Our findings suggest that the age-dependent increase in brain iron may be partly due to the age-induced increase in DMT1 expression, rather than TfR1 and Fpn1 expression, and also imply that the increased brain iron is associated with expression of the pathological hallmarks of AD and PD. 27578012 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.060 AlteredExpression disease BEFREE CP alterations in iron contents were mediated through DMT1(-IRE) and changes in ROS levels, which in turn attenuated the progression of AD through the Erk/p38 and Bcl-2/Bax signaling pathways. 28874056 2018
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.010 AlteredExpression disease BEFREE Concordant with these functional data, levels of the Tf receptor (TfR) in IMG cells were up-regulated in response to IL-4, whereas divalent metal transporter-1 (DMT1) and ferritin levels increased in response to LPS or Aβ. 29610275 2018
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 GeneticVariation disease BEFREE Our findings support an implication for iron metabolism in ALS and suggest that the genotype of the SLC11A2 gene could modulate the duration of the disease in French SALS patients. 21276595 2011
CUI: C0002871
Disease: Anemia
Anemia 		0.100 GeneticVariation disease LHGDN Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload. 16439678 2006
CUI: C0002871
Disease: Anemia
Anemia 		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: C0002871
Disease: Anemia
Anemia 		0.100 GeneticVariation disease LHGDN Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload. 15459009 2005
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease BEFREE Nramp1 regulates macrophage activation in infectious and autoimmune diseases.Nramp2 controls anaemia. 10758409 2000
CUI: C0002871
Disease: Anemia
Anemia 		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: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease LHGDN Finally, two DMT1 intronic SNPs showed positive association with RLS in patients with a history of anemia, when compared to RLS patients without anemia. 17510944 2007
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease BEFREE Finally, two DMT1 intronic SNPs showed positive association with RLS in patients with a history of anemia, when compared to RLS patients without anemia. 17510944 2007
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease BEFREE Gene mapping studies in animal mutants with anaemia due to defects in the uptake or tissue transfer of iron have yielded novel proteins involved in iron transport: DMT1 (brush border transporter of ferrous iron) in the mk/mk mouse, hephaestin (basolateral multi-copper ferroxidase) in the sex-linked anaemic mouse (sla) and ferroportin1 (basolateral iron exporter) in zebrafish weh mutants. 11005792 2000
CUI: C0002871
Disease: Anemia
Anemia 		0.100 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: C0002871
Disease: Anemia
Anemia 		0.100 AlteredExpression disease BEFREE Taken together, our studies demonstrate that decreased expression of DMT1 in intestinal mucosa leads to compromised absorption and transportation of iron and that blockade of TNF could rescue anemia and promote DMT1 expression in gut mucosa. 26572590 2015
CUI: C0002871
Disease: Anemia
Anemia 		0.100 GeneticVariation disease BEFREE By association analysis, we found that DMT1 IVS4+44-AA genotype confers a four-fold risk of developing anemia, despite of atrophy degree. 29023457 2017
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