Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
1.000 CausalMutation CLINVAR SLC39A4 mutations have been demonstrated in several acrodermatitis enteropathica families, and in this study we have examined two Japanese acrodermatitis enteropathica families for SLC39A4 mutations. 12787121

2003

Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
1.000 Biomarker BEFREE Mutation spectrum of human SLC39A4 in a panel of patients with acrodermatitis enteropathica. 12955721

2004

Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
1.000 CausalMutation CLINVAR The chromosomal location and expression of SLC39A4, together with mutational analysis of eight families affected with acrodermatitis enteropathica, suggest that SLC39A4 is centrally involved in the pathogenesis of this condition. 12068297

2002

Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
1.000 CausalMutation CLINVAR Homozygosity mapping places the acrodermatitis enteropathica gene on chromosomal region 8q24.3. 11254458

2001

Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
1.000 CausalMutation CLINVAR Altered selectivity in an Arabidopsis metal transporter. 11035780

2000

Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
1.000 Biomarker CTD_human Identification of SLC39A4, a gene involved in acrodermatitis enteropathica. 12068297

2002

Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
1.000 GeneticVariation UNIPROT Complete sequencing and characterization of 21,243 full-length human cDNAs. 14702039

2004

Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
1.000 GeneticVariation BEFREE Mutations in the SLC39A4 gene are responsible for acrodermatitis enteropathica. 16889938

2007

Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
1.000 Biomarker BEFREE A mouse model of acrodermatitis enteropathica: loss of intestine zinc transporter ZIP4 (Slc39a4) disrupts the stem cell niche and intestine integrity. 22737083

2012

Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
1.000 Biomarker CTD_human The ZIP5 gene encodes a protein closely related to ZIP4, a zinc transporter mutated in the human genetic disorder acrodermatitis enteropathica. 15358787

2005

Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
1.000 GeneticVariation UNIPROT SLC39A4 mutations have been demonstrated in several acrodermatitis enteropathica families, and in this study we have examined two Japanese acrodermatitis enteropathica families for SLC39A4 mutations. 12787121

2003

Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
1.000 GeneticVariation UNIPROT The chromosomal location and expression of SLC39A4, together with mutational analysis of eight families affected with acrodermatitis enteropathica, suggest that SLC39A4 is centrally involved in the pathogenesis of this condition. 12068297

2002

Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
1.000 GeneticVariation BEFREE In this article, we identify a gene, SLC39A4, located in the candidate region and, in patients with AE, document mutations that likely lead to the disease. 12032886

2002

Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
1.000 Biomarker CTD_human Acrodermatitis enteropathica mutations affect transport activity, localization and zinc-responsive trafficking of the mouse ZIP4 zinc transporter. 14709598

2004

Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
1.000 CausalMutation CLINVAR Novel SLC39A4 mutations in acrodermatitis enteropathica. 12787121

2003

Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
1.000 Biomarker BEFREE Identification of SLC39A4, a gene involved in acrodermatitis enteropathica. 12068297

2002

Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
1.000 GeneticVariation BEFREE Novel SLC39A4 mutations in acrodermatitis enteropathica. 12787121

2003

Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
1.000 GeneticVariation BEFREE Congenital zinc deficiency from mutations of the SLC39A4 gene as the genetic background of acrodermatitis enteropathica. 21165302

2011

Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
1.000 GeneticVariation UNIPROT Novel SLC39A4 mutations in acrodermatitis enteropathica. 12787121

2003

Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
1.000 GeneticVariation BEFREE One novel homozygous mutation of SLC39A4 gene in a Chinese patient with acrodermatitis enteropathica. 20300938

2010

Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
1.000 Biomarker CTD_human The human Zip4 gene (Slc39a4) is mutated in the rare recessive genetic disorder of zinc metabolism acrodermatitis enteropathica, but the physiological functions of Zip4 are not well understood. 17483098

2007

Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
1.000 GeneticVariation BEFREE The possible functional effect of the Leu372Val substitution, together with two pathological mutations at the same codon (Leu372Pro and Leu372Arg) that cause acrodermatitis enteropathica (a disease phenotype characterized by extreme zinc deficiency), was investigated by transient overexpression of human ZIP4 protein in HeLa cells. 24586184

2014

Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
1.000 Biomarker CTD_human The chromosomal location and expression of SLC39A4, together with mutational analysis of eight families affected with acrodermatitis enteropathica, suggest that SLC39A4 is centrally involved in the pathogenesis of this condition. 12068297

2002

Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
1.000 GeneticVariation BEFREE Novel proteolytic processing of the ectodomain of the zinc transporter ZIP4 (SLC39A4) during zinc deficiency is inhibited by acrodermatitis enteropathica mutations. 18936158

2009

Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
1.000 Biomarker CTD_human The human ZIP4 gene (SLC39A4) was identified because of its association with acrodermatitis enteropathica (AE), a genetic disorder of zinc absorption. 14709598

2004