SLC52A3, solute carrier family 52 member 3, 113278

N. diseases: 103; N. variants: 34
Disease: Riboflavin Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035528
Disease: Riboflavin Deficiency
Riboflavin Deficiency 		0.020 Biomarker disease BEFREE To our knowledge, this is the first report to indicate that Rfvt3 contributes to placental riboflavin transport, and that disruption of Slc52a3 gene caused neonatal mortality with hyperlipidemia and hypoglycemia owing to riboflavin deficiency. 27272163 2016
CUI: C0035528
Disease: Riboflavin Deficiency
Riboflavin Deficiency 		0.020 GeneticVariation disease BEFREE Genetic defects of the riboflavin transport have been detected in Brown-Vialetto-Van Laere and Fazio-Londe syndromes (C20orf54), and haploinsufficiency of GPR172B has been proposed in one patient to cause persistent riboflavin deficiency. 22231380 2012