SLC39A4, solute carrier family 39 member 4, 55630

N. diseases: 87; N. variants: 12
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434292
rs121434292
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease:
Acrodermatitis enteropathica 		0.810 GeneticVariation UNIPROT Clinical utility gene card for: acrodermatitis enteropathica. 22166942 2012
dbSNP: rs121434292
rs121434292
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease:
Acrodermatitis enteropathica 		0.810 GeneticVariation BEFREE To confirm the diagnosis of AE from congenital zinc deficiency, direct sequencing analysis of SLC39A4 was performed and revealed that he was compound heterozygous for a known missense mutation (Arg95Cys) and a novel splicing mutation in the donor site of intron 7 (c.1287+2T>C). 21165302 2010
dbSNP: rs121434292
rs121434292
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease:
Acrodermatitis enteropathica 		0.810 GeneticVariation UNIPROT Complete sequencing and characterization of 21,243 full-length human cDNAs. 14702039 2004
dbSNP: rs121434292
rs121434292
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease:
Acrodermatitis enteropathica 		0.810 GeneticVariation UNIPROT Novel SLC39A4 mutations in acrodermatitis enteropathica. 12787121 2003
dbSNP: rs121434292
rs121434292
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease:
Acrodermatitis enteropathica 		0.810 GeneticVariation UNIPROT A novel member of a zinc transporter family is defective in acrodermatitis enteropathica. 12032886 2002
dbSNP: rs121434292
rs121434292
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease:
Acrodermatitis enteropathica 		0.810 GeneticVariation UNIPROT Identification of SLC39A4, a gene involved in acrodermatitis enteropathica. 12068297 2002
dbSNP: rs121434292
rs121434292
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease:
Acrodermatitis enteropathica 		A 0.810 CausalMutation CLINVAR
dbSNP: rs121434287
rs121434287
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease:
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: acrodermatitis enteropathica. 22166942 2012
dbSNP: rs121434288
rs121434288
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease:
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: acrodermatitis enteropathica. 22166942 2012
dbSNP: rs121434289
rs121434289
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease:
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: acrodermatitis enteropathica. 22166942 2012
dbSNP: rs121434290
rs121434290
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease:
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: acrodermatitis enteropathica. 22166942 2012
dbSNP: rs121434291
rs121434291
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease:
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: acrodermatitis enteropathica. 22166942 2012
dbSNP: rs121434293
rs121434293
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease:
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: acrodermatitis enteropathica. 22166942 2012
dbSNP: rs121434287
rs121434287
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease:
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Complete sequencing and characterization of 21,243 full-length human cDNAs. 14702039 2004
dbSNP: rs121434288
rs121434288
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease:
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Complete sequencing and characterization of 21,243 full-length human cDNAs. 14702039 2004
dbSNP: rs121434289
rs121434289
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease:
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Complete sequencing and characterization of 21,243 full-length human cDNAs. 14702039 2004
dbSNP: rs121434290
rs121434290
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease:
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Complete sequencing and characterization of 21,243 full-length human cDNAs. 14702039 2004
dbSNP: rs121434291
rs121434291
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease:
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Complete sequencing and characterization of 21,243 full-length human cDNAs. 14702039 2004
dbSNP: rs121434293
rs121434293
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease:
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Complete sequencing and characterization of 21,243 full-length human cDNAs. 14702039 2004
dbSNP: rs121434287
rs121434287
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease:
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Novel SLC39A4 mutations in acrodermatitis enteropathica. 12787121 2003
dbSNP: rs121434288
rs121434288
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease:
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Novel SLC39A4 mutations in acrodermatitis enteropathica. 12787121 2003
dbSNP: rs121434289
rs121434289
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease:
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Novel SLC39A4 mutations in acrodermatitis enteropathica. 12787121 2003
dbSNP: rs121434290
rs121434290
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease:
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Novel SLC39A4 mutations in acrodermatitis enteropathica. 12787121 2003
dbSNP: rs121434291
rs121434291
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease:
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Novel SLC39A4 mutations in acrodermatitis enteropathica. 12787121 2003
dbSNP: rs121434293
rs121434293
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease:
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Novel SLC39A4 mutations in acrodermatitis enteropathica. 12787121 2003