SLC2A6, solute carrier family 2 member 6, 11182

N. diseases: 39; N. variants: 2
Disease: Renal Insufficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.010 GeneticVariation disease BEFREE Thus our report identifies two novel loss-of-function mutations (c.151delG in URAT1 and p.P516T in GLUT9) which cause RHUC and renal dysfunction in two independent RHUC pedigrees. 23043931 2013