Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6569
Gene Symbol: SLC34A1
SLC34A1
0.080 GeneticVariation disease BEFREE Consistent with these findings, results from genome-wide association studies indicate that variants in SLC34A1 are associated with a higher risk to develop kidney stones and chronic kidney disease, but underlying mechanisms have not been addressed to date. 29275531 2019
Entrez Id: 6569
Gene Symbol: SLC34A1
SLC34A1
0.080 GeneticVariation disease BEFREE We examined the monogenic causes of NL in a novel geographic cohort and most frequently identified dominant mutations in the sodium-phosphate transporter SLC34A1 with functional validation. 30778725 2019
Entrez Id: 6569
Gene Symbol: SLC34A1
SLC34A1
0.080 Biomarker disease BEFREE Impairment of NaPi-IIa, encoded by SLC34A1, is associated with various overlapping clinical syndromes, including hypophosphatemic nephrolithiasis with osteoporosis, renal Fanconi's syndrome with chronic kidney disease, and idiopathic infantile hypercalcemia and nephrocalcinosis. 30227399 2019
Entrez Id: 6569
Gene Symbol: SLC34A1
SLC34A1
0.080 GeneticVariation disease BEFREE Focusing our analysis on coding sequence variants in 63 genes with preferential kidney expression we identify two rare missense variants SLC34A1 p.Tyr489Cys (OR=2.38, P=2.8 × 10(-5)) and TRPV5 p.Leu530Arg (OR=3.62, P=4.1 × 10(-5)) associating with recurrent kidney stones. 26272126 2015
Entrez Id: 6569
Gene Symbol: SLC34A1
SLC34A1
0.080 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: 6569
Gene Symbol: SLC34A1
SLC34A1
0.080 GeneticVariation disease BEFREE Mutations in SLC34A1 have previously been associated with hypercalciuria/nephrolithiasis. 21597970 2011
Entrez Id: 6569
Gene Symbol: SLC34A1
SLC34A1
0.080 GeneticVariation disease BEFREE Dent's disease, an X-linked disorder characterized by low molecular weight proteinuria, hypercalciuria and nephrolithiasis, is due to mutations of the chloride/proton antiporter 5, CLC-5; ADHH is associated with activating mutations of the CaSR, which is a G-protein-coupled receptor; hypophosphatemic hypercalciuric nephrolithiasis associated with rickets is due to mutations in the type 2c sodium-phosphate co-transporter (NPT2c); and familial hypomagnesemia with hypercalciuria is due to mutations of paracellin-1, which is a member of the claudin family of membrane proteins that form the intercellular tight junction barrier in a variety of epithelia. 18446382 2009
Entrez Id: 6569
Gene Symbol: SLC34A1
SLC34A1
0.080 AlteredExpression disease BEFREE The onset of renal stones correlated developmentally with the absence of Npt2 expression and the expression of the genes responsible for the renal production (1alpha-hydroxylase) and catabolism (24-hydroxylase) of 1,25-dihydroxyvitamin D. In summary, we show that Npt2 gene ablation is associated with renal calcification and suggest that mutations in the NPT2 gene may contribute to nephrocalcinosis in a subset of patients with familial hypercalciuria. 12674325 2003