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 GeneticVariation BEFREE We report a case of AE presenting with only periorificial and acral dermatitis in which genetic testing revealed two novel compound heterozygous missense mutations for SLC39A4. 25780817

2016

Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
1.000 GeneticVariation BEFREE We describe a novel homozygous mutation, 1191insC, in SLC39A4 in a patient from Sierra Leone and suggest that AE should be considered within the differential diagnosis for acrodermatitis in children from Sierra Leone. 22082465

2012

Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
1.000 GermlineCausalMutation ORPHANET We describe a novel homozygous mutation, 1191insC, in SLC39A4 in a patient from Sierra Leone and suggest that AE should be considered within the differential diagnosis for acrodermatitis in children from Sierra Leone. 22082465

2012

Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
1.000 Biomarker CTD_human To investigate the effects of these mutations on function of the Zip4 transporter, we introduced six AE-associated missense mutations into the orthologous mouse ZIP4 gene for functional expression in cultured cells. 14709598

2004

Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
1.000 GeneticVariation BEFREE This study brings to 21 the number of reported SLC39A4 mutations in AE families. 12955721

2003

Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
1.000 Biomarker BEFREE These studies strongly suggest that wasting and lethality in acrodermatitis enteropathica patients reflects the loss-of-function of the intestine zinc transporter ZIP4, which leads to abnormal Paneth cell gene expression, disruption of the intestinal stem cell niche, and diminished function of the intestinal mucosa. 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

2004

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 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 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 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 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 Biomarker GENOMICS_ENGLAND 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 Biomarker BEFREE Recently, the basic defect in AE was found to lie in SLC39A4. 16714095

2006

Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
1.000 GeneticVariation BEFREE Recent research revealed that mutations in the SLC39A4 gene are responsible for acrodermatitis enteropathica. 20300938

2010

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

2006

Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
1.000 GeneticVariation UNIPROT 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 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 GeneticVariation BEFREE In 2002, both we and others identified the AE SLC39A4 gene located at 8q24.3, and described the first causative mutations for the disease. 19370757

2009

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

2010

Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
1.000 Biomarker BEFREE Conditional knockout of the intestinal zinc transporter Zip4 (Slc39a4) in mice creates a model of the lethal human genetic disease acrodermatitis enteropathica (AE). 24015258

2013

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 GermlineCausalMutation ORPHANET Clinical utility gene card for: acrodermatitis enteropathica. 22166942

2012

Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
1.000 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016