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: C3806153
Disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1
ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1 		0.500 Biomarker disease GENOMICS_ENGLAND Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload. 15459009 2005
CUI: C3806153
Disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1
ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1 		0.500 Biomarker disease GENOMICS_ENGLAND Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload. 16439678 2006
CUI: C3806153
Disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1
ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1 		0.500 GeneticVariation disease UNIPROT Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload. 16439678 2006
CUI: C3806153
Disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1
ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1 		0.500 GeneticVariation disease UNIPROT Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload. 15459009 2005
CUI: C3806153
Disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1
ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1 		0.500 GeneticVariation disease UNIPROT Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2). 16160008 2006
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.310 GeneticVariation disease UNIPROT
CUI: C0007786
Disease: Brain Ischemia
Brain Ischemia 		0.210 Biomarker disease RGD Tanshinone IIA prevented brain iron dyshomeostasis in cerebral ischemic rats. 21325818 2011
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.210 Biomarker group RGD Up-regulation of divalent metal transporter 1 in 6-hydroxydopamine intoxication is IRE/IRP dependent. 20125122 2010
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.210 Biomarker group RGD In addition, we report that a mutation in DMT1 that impairs iron transport protects rodents against parkinsonism-inducing neurotoxins MPTP and 6-hydroxydopamine. 19011085 2008
CUI: C0002884
Disease: Hypochromic anemia
Hypochromic anemia 		0.200 Biomarker disease RGD Nramp2 is mutated in the anemic Belgrade (b) rat: evidence of a role for Nramp2 in endosomal iron transport. 9448300 1998
CUI: C0010474
Disease: Curling Ulcer
Curling Ulcer 		0.200 Biomarker disease RGD Role of iron in the pathogenesis of cysteamine-induced duodenal ulceration in rats. 19342511 2009
CUI: C0013295
Disease: Duodenal Ulcer
Duodenal Ulcer 		0.200 Biomarker disease RGD Role of iron in the pathogenesis of cysteamine-induced duodenal ulceration in rats. 19342511 2009
CUI: C0029810
Disease: Other specified iron deficiency anemias
Other specified iron deficiency anemias 		0.200 Biomarker disease RGD Olfactory uptake of manganese requires DMT1 and is enhanced by anemia. 17116743 2007
CUI: C0032285
Disease: Pneumonia
Pneumonia 		0.200 Biomarker disease RGD These combined results show that pulmonary inflammation can be modified by both DMT1 and iron status. 21278260 2011
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 GermlineCausalMutation disease ORPHANET Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload. 16439678 2006
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: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.350 Biomarker disease LHGDN Transferrin receptor co-localizes and interacts with the hemochromatosis factor (HFE) and the divalent metal transporter-1 (DMT1) in trophoblast cells. 15880641 2005
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 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 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: C0282193
Disease: Iron Overload
Iron Overload 		0.100 GeneticVariation disease LHGDN We report here the first human mutation of DMT1 identified in a female with severe hypochromic microcytic anemia and iron overload. 15459009 2005