Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 353
Gene Symbol: APRT
APRT
0.330 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
Entrez Id: 353
Gene Symbol: APRT
APRT
0.330 GeneticVariation disease BEFREE In the present investigations, we have shown that this characteristic is common in mutant enzymes from all the four separate Japanese urolithiasis families associated with partial APRT deficiencies so far tested. 3876264 1985
Entrez Id: 23562
Gene Symbol: CLDN14
CLDN14
0.110 GeneticVariation disease GWASCAT Novel Risk Loci Identified in a Genome-Wide Association Study of Urolithiasis in a Japanese Population. 30975718 2019
Entrez Id: 5585
Gene Symbol: PKN1
PKN1
0.100 GeneticVariation disease GWASCAT Novel Risk Loci Identified in a Genome-Wide Association Study of Urolithiasis in a Japanese Population. 30975718 2019
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.100 GeneticVariation disease BEFREE Vitamin D receptor gene (VDR) polymorphisms and the urolithiasis risk: an updated meta-analysis based on 20 case-control studies. 24190699 2014
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.100 GeneticVariation disease BEFREE No associations were evident for VDR ApaI, BsmI and TaqI polymorphic variants and urolithiasis risk after correction for multiple testing. 31515573 2019
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.100 GeneticVariation disease BEFREE The VDR FokI polymorphism might be important in the clinical presentation of patients with calcium urolithiasis, especially for the frequency of stone episodes and age at first onset, although it is not associated with the formation of stones. 17419705 2007
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.100 GeneticVariation disease BEFREE Effects of vitamin D receptor polymorphisms on urolithiasis risk: a meta-analysis. 24093218 2013
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.100 GeneticVariation disease BEFREE These results suggest that the BsmI and TaqI VDR genotypes could be candidate genes leading to infantile urolithiasis. 26908058 2016
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.100 GeneticVariation disease BEFREE In the present study, the role of Taq I polymorphism of vitamin D receptor gene in urolithiasis was studied. 18036039 2007
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.100 GeneticVariation disease BEFREE The keywords used for the search were "vitamin D receptor or VDR" and "polymorphisms or SNPs" combined with "urolithiasis or nephrolithiasis". 31212049 2019
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.100 GeneticVariation disease BEFREE In our population, CO2CP and levels of uric acid and serum Na as well as polymorphism of the F allele of the VDR FokⅠ may provide important clues to evaluate the risk of urolithiasis in Uyghur children. 30742686 2019
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.100 GeneticVariation disease BEFREE We evaluated the association of polymorphisms TaqI and FokI of VDR gene and Ala62Thr of ZNF365 gene with the metabolic disorders (MD) in children with urolithiasis (UL).We included 109 children with UL. 25060549 2014
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.100 GeneticVariation disease BEFREE The VDR gene Alw I, Fok I, Apa I, and Taq I polymorphisms does not seem to be candidate genetic markers for urinary stones in Korean patients. 20018354 2010
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.100 GeneticVariation disease BEFREE To assess the use of Fok I polymorphism (the most frequent polymorphism, at the start codon of the vitamin D receptor gene, VDR) as a convenient genetic marker in identifying the cause of urolithiasis. 11167636 2001
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.100 GeneticVariation disease BEFREE Therefore, we studied the association of VDR gene polymorphism with urolithiasis. 11956476 2002
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.100 GeneticVariation disease BEFREE The relation of VDR polymorphisms to urolithiasis was quantified on ApaI, BsmI, FokI and TaqI separately. 21325790 2011
Entrez Id: 7021
Gene Symbol: TFAP2B
TFAP2B
0.100 GeneticVariation disease GWASCAT Novel Risk Loci Identified in a Genome-Wide Association Study of Urolithiasis in a Japanese Population. 30975718 2019
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.100 GeneticVariation disease BEFREE Etiologic risk factors and vitamin D receptor gene polymorphisms in under one-year-old infants with urolithiasis. 29085969 2018
Entrez Id: 10636
Gene Symbol: RGS14
RGS14
0.100 GeneticVariation disease GWASCAT Novel Risk Loci Identified in a Genome-Wide Association Study of Urolithiasis in a Japanese Population. 30975718 2019
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.100 GeneticVariation disease BEFREE We conclude that ApaL1 and Taq1 SNPs of the urokinase and VDR genes are associated with recurrent urolithiasis in a Caucasian population. 26275878 2016
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.100 GeneticVariation disease BEFREE Several studies have shown an association between vitamin D receptor (VDR) gene polymorphisms and urolithiasis. 20339297 2010
Entrez Id: 54828
Gene Symbol: BCAS3
BCAS3
0.100 GeneticVariation disease GWASCAT Novel Risk Loci Identified in a Genome-Wide Association Study of Urolithiasis in a Japanese Population. 30975718 2019
Entrez Id: 2037
Gene Symbol: EPB41L2
EPB41L2
0.100 GeneticVariation disease GWASCAT Novel Risk Loci Identified in a Genome-Wide Association Study of Urolithiasis in a Japanese Population. 30975718 2019
Entrez Id: 79068
Gene Symbol: FTO
FTO
0.100 GeneticVariation disease GWASCAT Novel Risk Loci Identified in a Genome-Wide Association Study of Urolithiasis in a Japanese Population. 30975718 2019