Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 259
Gene Symbol: AMBP
AMBP
0.040 Biomarker disease BEFREE Patients with a history of UTI (OR = 2.12, 95%CI 1.41-3.18; P < 0.001) or nephrolithiasis (OR = 8.81, 95%CI 4.93-15.72; P < 0.001) were more likely to have postoperative nephrolithiasis. 31564408 2019
Entrez Id: 259
Gene Symbol: AMBP
AMBP
0.040 Biomarker disease BEFREE The aim of the study was assessment of four selected macromolecules level: osteopontin, calgranulin, uromodulin and bikunin in fresh morning urine sample in children with nephrolithiasis in the course of idiopathic hypercalciuria. 29353465 2018
Entrez Id: 259
Gene Symbol: AMBP
AMBP
0.040 GeneticVariation disease BEFREE Escherichia coli is associated with kidney stone disease, as a cause or an effect (secondary or recurrent urinary tract infection, UTI). 28011229 2017
Entrez Id: 84168
Gene Symbol: ANTXR1
ANTXR1
0.100 Biomarker disease HPO
Entrez Id: 10513
Gene Symbol: APPBP2
APPBP2
0.020 Biomarker disease BEFREE Intestinal oxalate secretion mediated by anion exchanger SLC26A6 (PAT1) plays a crucial role in limiting net absorption of ingested oxalate, thereby preventing hyperoxaluria and related KS, reflecting the importance of understanding regulation of intestinal oxalate transport. 30020825 2018
Entrez Id: 10513
Gene Symbol: APPBP2
APPBP2
0.020 Biomarker disease BEFREE Recent emergence of PAT-1 as a novel therapeutic target for nephrolithiasis warrants detailed understanding of the mechanisms of PAT-1 regulation in health and disease. 31042422 2019
Entrez Id: 353
Gene Symbol: APRT
APRT
0.170 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
0.170 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
0.170 Biomarker disease BEFREE Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis. 8643571 1996
Entrez Id: 353
Gene Symbol: APRT
APRT
0.170 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
0.170 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
0.170 Biomarker disease HPO
Entrez Id: 353
Gene Symbol: APRT
APRT
0.170 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
0.170 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: 358
Gene Symbol: AQP1
AQP1
0.010 GeneticVariation disease BEFREE We selected seven single-nucleotide polymorphisms (SNPs): rs12654812 and rs11746443 from 5q35.3 (RGS14-SLC34A1-PFN3-F12); rs12669187 and rs1000597 from 7p14.3 (INMT-FAM188B-AQP1); and rs7981733, rs1170155, and rs4142110 from 13q14.1 (DGKH (diacylglycerol kinase)), which were previously reported to be significantly associated with nephrolithiasis. rs12654812, rs12669187 and rs7981733 were significantly associated with nephrolithiasis after Bonferroni's correction (P=3.12 × 10(-3), odds ratio (OR)=1.43; P=6.40 × 10(-3), OR=1.57; and P=5.00 × 10(-3), OR=1.41, respectively). 23719187 2013
Entrez Id: 367
Gene Symbol: AR
AR
0.120 Biomarker disease BEFREE Androgen receptor enhances kidney stone-CaOx crystal formation via modulation of oxalate biosynthesis & oxidative stress. 24956378 2014
Entrez Id: 367
Gene Symbol: AR
AR
0.120 Biomarker disease HPO
Entrez Id: 367
Gene Symbol: AR
AR
0.120 Biomarker disease BEFREE The molecular mechanisms of androgen receptor in nephrolithiasis. 28336462 2017
Entrez Id: 79798
Gene Symbol: ARMC5
ARMC5
0.100 Biomarker disease HPO
Entrez Id: 479
Gene Symbol: ATP12A
ATP12A
0.020 Biomarker disease BEFREE Analysis of postmarketing safety data for proton-pump inhibitors reveals increased propensity for renal injury, electrolyte abnormalities, and nephrolithiasis. 30783195 2019
Entrez Id: 479
Gene Symbol: ATP12A
ATP12A
0.020 Biomarker disease BEFREE Conditional logistic regression models were adjusted for the rate of health care encounters, comorbidities, urinary tract infections, and use of thiazide and loop diuretics, proton-pump inhibitors, and statins.<b>Results</b> Exposure to any of five different antibiotic classes 3-12 months before index date was associated with nephrolithiasis. 29748329 2018
Entrez Id: 491
Gene Symbol: ATP2B2
ATP2B2
0.010 Biomarker disease BEFREE In summary, a large number of novel PMCA2-interacting proteins have been defined and a novel function of PMCA2 as a COM crystal-binding protein sheds light onto its involvement, at least in part, in kidney stone pathogenesis. 29085954 2018
Entrez Id: 495
Gene Symbol: ATP4A
ATP4A
0.020 Biomarker disease BEFREE Analysis of postmarketing safety data for proton-pump inhibitors reveals increased propensity for renal injury, electrolyte abnormalities, and nephrolithiasis. 30783195 2019
Entrez Id: 495
Gene Symbol: ATP4A
ATP4A
0.020 Biomarker disease BEFREE Conditional logistic regression models were adjusted for the rate of health care encounters, comorbidities, urinary tract infections, and use of thiazide and loop diuretics, proton-pump inhibitors, and statins.<b>Results</b> Exposure to any of five different antibiotic classes 3-12 months before index date was associated with nephrolithiasis. 29748329 2018
Entrez Id: 50617
Gene Symbol: ATP6V0A4
ATP6V0A4
0.010 GeneticVariation disease BEFREE However, heterozygous carriers of ATP6V1B1 and ATP6V0A4 mutations may have a higher risk of developing nephrolithiasis and nephrocalcinosis in adulthood, respectively. 28994037 2018