×
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