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 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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.310 GeneticVariation disease UNIPROT
CUI: C0333912
Disease: Hypochromatism
Hypochromatism 		0.100 Biomarker phenotype HPO
CUI: C0855790
Disease: Decreased mean corpuscular volume
Decreased mean corpuscular volume 		0.100 Biomarker phenotype HPO
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: C1833296
Disease: FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED
FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED 		0.050 Biomarker disease BEFREE <i>In vivo</i>, a significant hypomyelination was found in DMT1 conditional knock-out mice in which DMT1 was postnatally deleted in NG2- or Sox10-positive OPCs. 30190412 2018
CUI: C0240066
Disease: Iron deficiency
Iron deficiency 		0.100 AlteredExpression disease BEFREE 2 and 6 μm ELT increased Tfr1 and Slc11a2 (iron-responsive genes involved in neuronal iron uptake) mRNA levels, indicating neuronal ID. 28005311 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
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: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		0.070 GeneticVariation disease BEFREE Iron-refractory iron deficiency anaemia (IRIDA) is a rare disorder which was linked to mutations in two genes (SLC11A2 and TMPRSS6). 22509377 2012
CUI: C0271901
Disease: Microcytic hypochromic anemia (disorder)
Microcytic hypochromic anemia (disorder) 		0.080 GeneticVariation disease BEFREE Hypochromic microcytic anemia associated with ineffective erythropoiesis caused by recessive mutations in divalent metal transporter 1 (DMT1) can be improved with high-dose erythropoietin supplementation. 22580996 2012
CUI: C0240066
Disease: Iron deficiency
Iron deficiency 		0.100 AlteredExpression disease BEFREE Nramp2 is an intestinal iron transporter, upregulated by dietary iron deficiency, which also colocalizes with transferrin in recycling endosomes. 11042033 2000
CUI: C0240066
Disease: Iron deficiency
Iron deficiency 		0.100 Biomarker disease BEFREE DMT1 and FP1 are centrally involved in iron uptake/transfer in the duodenum and in the adaptive changes of iron homeostasis to iron deficiency and overload. 11313311 2001
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: C0240066
Disease: Iron deficiency
Iron deficiency 		0.100 GeneticVariation disease BEFREE DMT-1 expression in C282Y homozygote subjects is consistent with the hypothesis of a "paradoxical" duodenal iron deficiency in hereditary hemochromatosis. 12547214 2003
CUI: C0240066
Disease: Iron deficiency
Iron deficiency 		0.100 AlteredExpression disease BEFREE DMT1 protein expression was localized in differentiated enterocytes at the villi tips in controls, whereas with iron deficiency it was observed throughout the villi. 15054143 2004
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: C0240066
Disease: Iron deficiency
Iron deficiency 		0.100 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: C0271901
Disease: Microcytic hypochromic anemia (disorder)
Microcytic hypochromic anemia (disorder) 		0.080 GeneticVariation disease BEFREE DMT1 mutations are responsible for severe hypochromic microcytic anemia in rodents and in 2 human patients described recently. 16439678 2006
CUI: C0271901
Disease: Microcytic hypochromic anemia (disorder)
Microcytic hypochromic anemia (disorder) 		0.080 Biomarker disease BEFREE DMT1 deficiency must be considered in the differential diagnosis of microcytic hypochromic anemia observed in the newborn period. 18154916 2008
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.090 GeneticVariation disease BEFREE DMT1 polymorphism and risk of Parkinson's disease. 21777657 2011
CUI: C0042961
Disease: Intestinal Volvulus
Intestinal Volvulus 		0.010 AlteredExpression disease BEFREE DMT1 was highly expressed in adult female and male B. malayi and Onchocerca volvulus. 29957332 2018
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.010 AlteredExpression disease BEFREE A decreasing tendency in the level of TF transcript and increasing tendency of SLC11A2 mRNA encoding DMT1 was observed in the blood of HD patients compared to the control subjects, but neither attained statistical significance. 26471164 2016