Disease: Primary hyperoxaluria, type I ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs180177161
rs180177161
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease:
Primary hyperoxaluria, type I 		A 0.700 GeneticVariation CLINVAR Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1. 27935012 2017
dbSNP: rs180177161
rs180177161
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease:
Primary hyperoxaluria, type I 		A 0.700 GeneticVariation CLINVAR Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing. 25629080 2015
dbSNP: rs180177161
rs180177161
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease:
Primary hyperoxaluria, type I 		A 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
dbSNP: rs180177161
rs180177161
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease:
Primary hyperoxaluria, type I 		A 0.700 GeneticVariation CLINVAR Reduction of plasma oxalate levels by oral application of Oxalobacter formigenes in 2 patients with infantile oxalosis. 21705122 2011
dbSNP: rs180177161
rs180177161
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease:
Primary hyperoxaluria, type I 		A 0.700 GeneticVariation CLINVAR Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene. 19479957 2009
dbSNP: rs180177161
rs180177161
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease:
Primary hyperoxaluria, type I 		A 0.700 CausalMutation CLINVAR Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene. 19479957 2009