Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434292
rs121434292
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

2011

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

2003

dbSNP: rs121434292
rs121434292
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
0.810 CausalMutation CLINVAR Novel SLC39A4 mutations in acrodermatitis enteropathica. 12787121

2003

dbSNP: rs121434287
rs121434287
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
0.800 CausalMutation CLINVAR Identification of SLC39A4, a gene involved in acrodermatitis enteropathica. 12068297

2002

dbSNP: rs121434287
rs121434287
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
0.800 GeneticVariation UNIPROT Identification of SLC39A4, a gene involved in acrodermatitis enteropathica. 12068297

2002

dbSNP: rs121434288
rs121434288
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
0.800 CausalMutation CLINVAR Identification of SLC39A4, a gene involved in acrodermatitis enteropathica. 12068297

2002

dbSNP: rs121434288
rs121434288
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
0.800 GeneticVariation UNIPROT Identification of SLC39A4, a gene involved in acrodermatitis enteropathica. 12068297

2002

dbSNP: rs121434288
rs121434288
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
0.800 CausalMutation CLINVAR Altered selectivity in an Arabidopsis metal transporter. 11035780

2000

dbSNP: rs121434289
rs121434289
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
0.800 CausalMutation CLINVAR Identification of SLC39A4, a gene involved in acrodermatitis enteropathica. 12068297

2002

dbSNP: rs121434289
rs121434289
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
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
0.800 CausalMutation CLINVAR A novel member of a zinc transporter family is defective in acrodermatitis enteropathica. 12032886

2002

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

2002

dbSNP: rs121434291
rs121434291
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
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
0.800 CausalMutation CLINVAR Homozygosity mapping places the acrodermatitis enteropathica gene on chromosomal region 8q24.3. 11254458

2001

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

2003

dbSNP: rs121434293
rs121434293
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
0.800 CausalMutation CLINVAR Novel SLC39A4 mutations in acrodermatitis enteropathica. 12787121

2003

dbSNP: rs2977838
rs2977838
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
0.700 GeneticVariation UNIPROT DNA sequence and analysis of human chromosome 8. 16421571

2006

dbSNP: rs2977838
rs2977838
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
0.700 GeneticVariation UNIPROT A novel member of a zinc transporter family is defective in acrodermatitis enteropathica. 12032886

2002

dbSNP: rs782110796
rs782110796
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
0.700 GeneticVariation UNIPROT Complete sequencing and characterization of 21,243 full-length human cDNAs. 14702039

2004

dbSNP: rs782110796
rs782110796
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
0.700 GeneticVariation UNIPROT A novel member of a zinc transporter family is defective in acrodermatitis enteropathica. 12032886

2002