Gene: TRPV5 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 56302
Gene Symbol: TRPV5
TRPV5 		0.050 Biomarker disease BEFREE The lack of potent, specific modulators of TRPV5 has limited the ability to probe the contribution of TRPV5 in disease phenotypes such as hypercalcemia and nephrolithiasis. 31647410 2019
Entrez Id: 56302
Gene Symbol: TRPV5
TRPV5 		0.050 Biomarker disease BEFREE This review provides an outline of the current knowledge regarding genetics of nephrolithiasis and will mainly focus on the epithelial Ca<sup>2+</sup> channel transient receptor potential vanilloid 5 (TRPV5), an important player in Ca<sup>2+</sup> homeostasis. 31471161 2019
Entrez Id: 56302
Gene Symbol: TRPV5
TRPV5 		0.050 GeneticVariation disease BEFREE Recently, a rare L530R variation (rs757494578) of TRPV5 was found to be associated with recurrent kidney stones in a founder population. 28847730 2017
Entrez Id: 56302
Gene Symbol: TRPV5
TRPV5 		0.050 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: 56302
Gene Symbol: TRPV5
TRPV5 		0.050 Biomarker disease BEFREE In summary, despite the complexity of nephrolithiasis and the potential association of numerous calcium homeostatic absorption/reabsorption factors, TRPV5 plays an important role in the pathogenesis of calcium nephrolithiasis. 26089600 2015