APRT, adenine phosphoribosyltransferase, 353

N. diseases: 384; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
0.110 GeneticVariation disease BEFREE Adenine phosphoribosyltransferase (APRT) deficiency leading to 2,8-dihydroxyadenine (DHA) urolithiasis has been considered a rare cause of urolithiasis and renal insufficiency. 3817810 1987
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
0.110 Biomarker disease HPO