SLC40A1, solute carrier family 40 member 1, 30061

N. diseases: 101; N. variants: 31
Disease: HEMOCHROMATOSIS, TYPE 4 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893670
rs104893670
Entrez Id: 30061
Gene Symbol: SLC40A1
SLC40A1
CUI: C1853733
Disease:
HEMOCHROMATOSIS, TYPE 4 		0.800 GeneticVariation UNIPROT Genetic and clinical heterogeneity of ferroportin disease. 16351644 2005
dbSNP: rs104893670
rs104893670
Entrez Id: 30061
Gene Symbol: SLC40A1
SLC40A1
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
dbSNP: rs104893670
rs104893670
Entrez Id: 30061
Gene Symbol: SLC40A1
SLC40A1
CUI: C1853733
Disease:
HEMOCHROMATOSIS, TYPE 4 		0.800 GeneticVariation UNIPROT Recent advances in understanding haemochromatosis: a transition state. 15466004 2004
dbSNP: rs104893670
rs104893670
Entrez Id: 30061
Gene Symbol: SLC40A1
SLC40A1
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
dbSNP: rs104893670
rs104893670
Entrez Id: 30061
Gene Symbol: SLC40A1
SLC40A1
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
dbSNP: rs104893670
rs104893670
Entrez Id: 30061
Gene Symbol: SLC40A1
SLC40A1
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
dbSNP: rs104893670
rs104893670
Entrez Id: 30061
Gene Symbol: SLC40A1
SLC40A1
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
dbSNP: rs104893670
rs104893670
Entrez Id: 30061
Gene Symbol: SLC40A1
SLC40A1
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
dbSNP: rs104893670
rs104893670
Entrez Id: 30061
Gene Symbol: SLC40A1
SLC40A1
CUI: C1853733
Disease:
HEMOCHROMATOSIS, TYPE 4 		0.800 GeneticVariation UNIPROT Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis. 12091366 2002
dbSNP: rs104893670
rs104893670
Entrez Id: 30061
Gene Symbol: SLC40A1
SLC40A1
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
dbSNP: rs104893670
rs104893670
Entrez Id: 30061
Gene Symbol: SLC40A1
SLC40A1
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
dbSNP: rs104893670
rs104893670
Entrez Id: 30061
Gene Symbol: SLC40A1
SLC40A1
CUI: C1853733
Disease:
HEMOCHROMATOSIS, TYPE 4 		0.800 GeneticVariation UNIPROT A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. 11431687 2001
dbSNP: rs104893670
rs104893670
Entrez Id: 30061
Gene Symbol: SLC40A1
SLC40A1
CUI: C1853733
Disease:
HEMOCHROMATOSIS, TYPE 4 		0.800 GeneticVariation UNIPROT A novel mammalian iron-regulated protein involved in intracellular iron metabolism. 10747949 2000
dbSNP: rs104893670
rs104893670
Entrez Id: 30061
Gene Symbol: SLC40A1
SLC40A1
CUI: C1853733
Disease:
HEMOCHROMATOSIS, TYPE 4 		A 0.800 CausalMutation CLINVAR