rs104893662, SLC40A1

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
HEMOCHROMATOSIS, TYPE 4
CUI: C1853733
Disease: HEMOCHROMATOSIS, TYPE 4
0.800 GeneticVariation UNIPROT Genetic and clinical heterogeneity of ferroportin disease. 16351644 2005
HEMOCHROMATOSIS, TYPE 4
CUI: C1853733
Disease: HEMOCHROMATOSIS, TYPE 4
0.800 GeneticVariation UNIPROT Recent advances in understanding haemochromatosis: a transition state. 15466004 2004
HEMOCHROMATOSIS, TYPE 4
CUI: C1853733
Disease: HEMOCHROMATOSIS, TYPE 4
0.800 GeneticVariation UNIPROT Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload. 15338274 2004
HEMOCHROMATOSIS, TYPE 4
CUI: C1853733
Disease: HEMOCHROMATOSIS, TYPE 4
0.800 GeneticVariation UNIPROT Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations. 12730114 2003
HEMOCHROMATOSIS, TYPE 4
CUI: C1853733
Disease: HEMOCHROMATOSIS, TYPE 4
0.800 GeneticVariation UNIPROT Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a large French-Canadian family. 12857562 2003
HEMOCHROMATOSIS, TYPE 4
CUI: C1853733
Disease: HEMOCHROMATOSIS, TYPE 4
0.800 GeneticVariation UNIPROT A novel mutation in ferroportin1 is associated with haemochromatosis in a Solomon Islands patient. 12865285 2003
HEMOCHROMATOSIS, TYPE 4
CUI: C1853733
Disease: HEMOCHROMATOSIS, TYPE 4
0.800 GeneticVariation UNIPROT Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis. 12091366 2002
HEMOCHROMATOSIS, TYPE 4
CUI: C1853733
Disease: HEMOCHROMATOSIS, TYPE 4
0.800 GeneticVariation UNIPROT Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3). 12406098 2002
HEMOCHROMATOSIS, TYPE 4
CUI: C1853733
Disease: HEMOCHROMATOSIS, TYPE 4
0.800 GeneticVariation UNIPROT A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4. 12123233 2002
HEMOCHROMATOSIS, TYPE 4
CUI: C1853733
Disease: HEMOCHROMATOSIS, TYPE 4
0.800 GeneticVariation UNIPROT Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3). 12091367 2002
HEMOCHROMATOSIS, TYPE 4
CUI: C1853733
Disease: HEMOCHROMATOSIS, TYPE 4
0.800 GeneticVariation UNIPROT Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. 11518736 2001
HEMOCHROMATOSIS, TYPE 4
CUI: C1853733
Disease: HEMOCHROMATOSIS, TYPE 4
0.800 GeneticVariation UNIPROT A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. 11431687 2001
HEMOCHROMATOSIS, TYPE 4
CUI: C1853733
Disease: HEMOCHROMATOSIS, TYPE 4
0.800 GeneticVariation UNIPROT A novel mammalian iron-regulated protein involved in intracellular iron metabolism. 10747949 2000
HEMOCHROMATOSIS, TYPE 4
CUI: C1853733
Disease: HEMOCHROMATOSIS, TYPE 4
0.800 CausalMutation CLINVAR
Hemochromatosis
CUI: C0018995
Disease: Hemochromatosis
0.010 GeneticVariation BEFREE Dominant hemochromatosis due to N144H mutation of SLC11A3: clinical and biological characteristics. 12547233 2003
Iron Overload
CUI: C0282193
Disease: Iron Overload
0.010 GeneticVariation BEFREE We describe here the clinical and biological characteristics of autosomal dominant form of iron overload due to the N144H mutation of the SLC11A3 gene. 12547233 2003
HEMOCHROMATOSIS, TYPE 1
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
0.010 GeneticVariation BEFREE Dominant hemochromatosis due to N144H mutation of SLC11A3: clinical and biological characteristics. 12547233 2003