Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I
0.800 CausalMutation CLINVAR Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1. 27935012

2017

Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I
0.800 GeneticVariation CLINVAR Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1. 27935012

2017

Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I
0.800 CausalMutation CLINVAR Molecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey. 27915025

2016

Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I
0.800 CausalMutation CLINVAR A novel mutation in the AGXT gene causing primary hyperoxaluria type I: genotype-phenotype correlation. 27659337

2016

Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I
0.800 GeneticVariation CLINVAR Stroke in primary hyperoxaluria type I. 23551880

2015

Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I
0.800 CausalMutation CLINVAR Progressive polyradiculoneuropathy due to intraneural oxalate deposition in type 1 primary hyperoxaluria. 25363903

2015

Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I
0.800 GeneticVariation CLINVAR Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria. 25644115

2015

Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I
0.800 GeneticVariation CLINVAR Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing. 25629080

2015

Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I
0.800 CausalMutation CLINVAR Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria. 25644115

2015

Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I
0.800 CausalMutation CLINVAR Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing. 25629080

2015

Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I
0.800 GeneticVariation CLINVAR Vitamin B6 in primary hyperoxaluria I: first prospective trial after 40 years of practice. 24385516

2014

Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I
0.800 GeneticVariation CLINVAR Allele-specific characterization of alanine: glyoxylate aminotransferase variants associated with primary hyperoxaluria. 24718375

2014

Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I
0.800 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

Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I
0.800 CausalMutation CLINVAR Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type. 24988064

2014

Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I
0.800 CausalMutation CLINVAR These are the first cases of primary hyperoxaluria type 1 to be diagnosed by clinical manifestations and AGXT gene mutations in mainland China. 24934730

2014

Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I
0.800 GeneticVariation CLINVAR Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: implication for diagnosis in North Africa. 23810941

2013

Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I
0.800 CausalMutation CLINVAR Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele. 23229545

2013

Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I
0.800 CausalMutation CLINVAR Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: implication for diagnosis in North Africa. 23810941

2013

Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I
0.800 GeneticVariation CLINVAR Crystal structure of the S187F variant of human liver alanine: glyoxylate [corrected] aminotransferase associated with primary hyperoxaluria type I and its functional implications. 23589421

2013

Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I
0.800 CausalMutation CLINVAR A double mutation in AGXT gene in families with primary hyperoxaluria type 1. 24012869

2013

Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I
0.800 GeneticVariation CLINVAR Apical sparing of longitudinal strain, left ventricular rotational abnormalities, and short-axis dysfunction in primary hyperoxaluria type 1. 23861508

2013

Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I
0.800 GeneticVariation CLINVAR Gly161 mutations associated with Primary Hyperoxaluria Type I induce the cytosolic aggregation and the intracellular degradation of the apo-form of alanine:glyoxylate aminotransferase. 24055001

2013

Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I
0.800 CausalMutation CLINVAR Primary hyperoxaluria type 1, a too often missed diagnosis and potentially treatable cause of end-stage renal disease in adults: results of the Dutch cohort. 22844106

2012

Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I
0.800 GeneticVariation CLINVAR Hyperoxaluria and rapid development of renal failure following a combined liver and kidney transplantation: emphasis on sequential transplantation. 23430879

2012

Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I
0.800 CausalMutation CLINVAR A novel mutation of human liver alanine:glyoxylate aminotransferase causes primary hyperoxaluria type 1: immunohistochemical quantification and subcellular distribution. 22685354

2012