Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434292
rs121434292
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
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
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.810 GeneticVariation UNIPROT A novel member of a zinc transporter family is defective in acrodermatitis enteropathica. 12032886

2002
dbSNP: rs121434292
rs121434292
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.810 GeneticVariation UNIPROT Clinical utility gene card for: acrodermatitis enteropathica. 22166942

2012
dbSNP: rs121434292
rs121434292
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.810 GeneticVariation UNIPROT Identification of SLC39A4, a gene involved in acrodermatitis enteropathica. 12068297

2002
dbSNP: rs121434292
rs121434292
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		A 0.810 CausalMutation CLINVAR

dbSNP: rs121434292
rs121434292
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.810 GeneticVariation UNIPROT Complete sequencing and characterization of 21,243 full-length human cDNAs. 14702039

2004
dbSNP: rs121434292
rs121434292
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.810 GeneticVariation UNIPROT Novel SLC39A4 mutations in acrodermatitis enteropathica. 12787121

2003
dbSNP: rs121434293
rs121434293
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Complete sequencing and characterization of 21,243 full-length human cDNAs. 14702039

2004
dbSNP: rs121434293
rs121434293
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Identification of SLC39A4, a gene involved in acrodermatitis enteropathica. 12068297

2002
dbSNP: rs121434293
rs121434293
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		G 0.800 CausalMutation CLINVAR

dbSNP: rs121434293
rs121434293
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: acrodermatitis enteropathica. 22166942

2012
dbSNP: rs121434293
rs121434293
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT A novel member of a zinc transporter family is defective in acrodermatitis enteropathica. 12032886

2002
dbSNP: rs121434293
rs121434293
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Novel SLC39A4 mutations in acrodermatitis enteropathica. 12787121

2003
dbSNP: rs121434291
rs121434291
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Novel SLC39A4 mutations in acrodermatitis enteropathica. 12787121

2003
dbSNP: rs121434291
rs121434291
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT A novel member of a zinc transporter family is defective in acrodermatitis enteropathica. 12032886

2002
dbSNP: rs121434291
rs121434291
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: acrodermatitis enteropathica. 22166942

2012
dbSNP: rs121434291
rs121434291
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Complete sequencing and characterization of 21,243 full-length human cDNAs. 14702039

2004
dbSNP: rs121434291
rs121434291
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Identification of SLC39A4, a gene involved in acrodermatitis enteropathica. 12068297

2002
dbSNP: rs121434291
rs121434291
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		T 0.800 CausalMutation CLINVAR

dbSNP: rs121434290
rs121434290
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Novel SLC39A4 mutations in acrodermatitis enteropathica. 12787121

2003
dbSNP: rs121434290
rs121434290
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Identification of SLC39A4, a gene involved in acrodermatitis enteropathica. 12068297

2002
dbSNP: rs121434290
rs121434290
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: acrodermatitis enteropathica. 22166942

2012
dbSNP: rs121434290
rs121434290
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT Complete sequencing and characterization of 21,243 full-length human cDNAs. 14702039

2004
dbSNP: rs121434290
rs121434290
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		T 0.800 CausalMutation CLINVAR

dbSNP: rs121434290
rs121434290
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		0.800 GeneticVariation UNIPROT A novel member of a zinc transporter family is defective in acrodermatitis enteropathica. 12032886

2002