rs782427403, SLC39A4

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Acrodermatitis enteropathica
CUI: C0221036
Disease: Acrodermatitis enteropathica
0.010 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
Zinc deficiency
CUI: C0235950
Disease: Zinc deficiency
0.010 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