rs180177161, AGXT

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Nephrolithiasis
CUI: C0392525
Disease: Nephrolithiasis
0.700 GeneticVariation CLINVAR Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. 28893421 2018
Nephrocalcinosis
CUI: C0027709
Disease: Nephrocalcinosis
0.700 GeneticVariation CLINVAR Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. 28893421 2018
Primary hyperoxaluria, type I
CUI: C0268164
Disease: Primary hyperoxaluria, type I
0.700 GeneticVariation CLINVAR Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1. 27935012 2017
Primary hyperoxaluria, type I
CUI: C0268164
Disease: Primary hyperoxaluria, type I
0.700 GeneticVariation CLINVAR Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing. 25629080 2015
Primary hyperoxaluria, type I
CUI: C0268164
Disease: Primary hyperoxaluria, type I
0.700 GeneticVariation CLINVAR Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type. 24988064 2014
Primary hyperoxaluria, type I
CUI: C0268164
Disease: Primary hyperoxaluria, type I
0.700 GeneticVariation CLINVAR Reduction of plasma oxalate levels by oral application of Oxalobacter formigenes in 2 patients with infantile oxalosis. 21705122 2011
Primary hyperoxaluria, type I
CUI: C0268164
Disease: Primary hyperoxaluria, type I
0.700 GeneticVariation CLINVAR Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene. 19479957 2009
Primary hyperoxaluria, type I
CUI: C0268164
Disease: Primary hyperoxaluria, type I
0.700 CausalMutation CLINVAR Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene. 19479957 2009