DisGeNET - a database of gene-disease associations

SLC40A1, solute carrier family 40 member 1, 30061

N. diseases: 101; N. variants: 31

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs368420430

Entrez Id:	30061
Gene Symbol:	SLC40A1

SLC40A1

CUI:	C1853733
Disease:

HEMOCHROMATOSIS, TYPE 4

0.800

CausalMutation

CLINVAR

Mild iron overload in an African American man with SLC40A1 D270V.

22584997

2012

dbSNP:

rs104893662

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:

rs104893663

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:

rs104893664

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

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:

rs104893671

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:

rs104893672

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:

rs104893673

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:

rs28939076

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:

rs104893662

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:

rs104893662

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:

rs104893663

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:

rs104893663

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:

rs104893664

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:

rs104893664

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

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

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:

rs104893671

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:

rs104893671

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:

rs104893672

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:

rs104893672

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:

rs104893673

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:

rs104893673

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:

rs28939076

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:

rs28939076

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