Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 353
Gene Symbol: APRT
APRT
0.070 GeneticVariation disease BEFREE Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder of adenine metabolism that results in excessive urinary excretion of the poorly soluble 2,8-dihydroxyadenine (DHA), leading to kidney stones and chronic kidney disease. 31378568 2020
Entrez Id: 353
Gene Symbol: APRT
APRT
0.070 Biomarker disease BEFREE Adenine phosphoribosyltransferase (APRT) deficiency is a hereditary purine metabolism disorder that causes kidney stones and chronic kidney disease (CKD). 30443743 2019
Entrez Id: 353
Gene Symbol: APRT
APRT
0.070 Biomarker disease BEFREE Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder which leads to accumulation of poorly soluble 2,8-dihydroxyadenine in kidneys resulting in nephrolithiasis as well as chronic kidney disease from crystal nephropathy. 30355577 2018
Entrez Id: 353
Gene Symbol: APRT
APRT
0.070 Biomarker disease BEFREE Adenine phosphoribosyltransferase (APRT) deficiency is a rare, but significant, cause of kidney stones and progressive chronic kidney disease. 29241594 2018
Entrez Id: 353
Gene Symbol: APRT
APRT
0.070 GeneticVariation disease BEFREE Adenine phosphoribosyltransferase (APRT) deficiency (OMIM #614723) is a rare autosomal recessive defect in the purine salvage pathway that causes excessive production of 2,8-dihydroxyadenine, leading to nephrolithiasis and chronic kidney disease (CKD). 30106368 2018
Entrez Id: 353
Gene Symbol: APRT
APRT
0.070 Biomarker disease BEFREE Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder characterized by 2,8-dihydroxyadenine (2,8-DHA) crystalluria that can cause nephrolithiasis and chronic kidney disease. 22212387 2012
Entrez Id: 353
Gene Symbol: APRT
APRT
0.070 Biomarker disease BEFREE Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis. 8643571 1996