SLC11A2, solute carrier family 11 member 2, 4891

N. diseases: 99; N. variants: 13
Disease: Microcytic hypochromic anemia (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271901
Disease: Microcytic hypochromic anemia (disorder)
Microcytic hypochromic anemia (disorder) 		0.080 GeneticVariation disease BEFREE Deficiency of the divalent metal transporter 1 (DMT1) leads to hypochromic microcytic anemia. 25562168 2014
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: C0271901
Disease: Microcytic hypochromic anemia (disorder)
Microcytic hypochromic anemia (disorder) 		0.080 GeneticVariation disease BEFREE Rare mutations in human DMT1 result in severe microcytic-hypochromic anemia. 23177986 2012
CUI: C0271901
Disease: Microcytic hypochromic anemia (disorder)
Microcytic hypochromic anemia (disorder) 		0.080 Biomarker disease BEFREE Genetic causes of hypochromic microcytic anemia include thalassemias and some rare inherited diseases such as DMT1 deficiency. 18596229 2008
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: 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 GeneticVariation disease BEFREE We report here the first human mutation of DMT1 identified in a female with severe hypochromic microcytic anemia and iron overload. 15459009 2005
CUI: C0271901
Disease: Microcytic hypochromic anemia (disorder)
Microcytic hypochromic anemia (disorder) 		0.080 GeneticVariation disease BEFREE In addition, recent observations based on positional cloning strategies in the mk/mk mouse and the Belgrade (b/b) rat rodent models of hypochromic, microcytic anemia have shown that the phenotypic abnormality in iron metabolism is associated with a mutation in the Nramp2 gene. 9808632 1998