Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 189
Gene Symbol: AGXT
AGXT 		0.800 Biomarker disease GENOMICS_ENGLAND Progressive polyradiculoneuropathy due to intraneural oxalate deposition in type 1 primary hyperoxaluria. 25363903 2015
Entrez Id: 189
Gene Symbol: AGXT
AGXT 		0.800 GeneticVariation disease 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 		0.800 GeneticVariation disease BEFREE The rare disease Primary Hyperoxaluria Type I (PH1) results from the deficit of liver peroxisomal alanine:glyoxylate aminotransferase (AGT), as a consequence of inherited mutations on the AGXT gene frequently leading to protein misfolding. 26161999 2015
Entrez Id: 189
Gene Symbol: AGXT
AGXT 		0.800 GeneticVariation disease UNIPROT Misfolding caused by the pathogenic mutation G47R on the minor allele of alanine:glyoxylate aminotransferase and chaperoning activity of pyridoxine. 26149463 2015
Entrez Id: 189
Gene Symbol: AGXT
AGXT 		0.800 CausalMutation disease CLINVAR Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria. 25644115 2015
Entrez Id: 189
Gene Symbol: AGXT
AGXT 		0.800 CausalMutation disease 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 		0.800 GeneticVariation disease BEFREE 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 		0.800 GeneticVariation disease CLINVAR Vitamin B6 in primary hyperoxaluria I: first prospective trial after 40 years of practice. 24385516 2014
Entrez Id: 189
Gene Symbol: AGXT
AGXT 		0.800 GeneticVariation disease CLINVAR Allele-specific characterization of alanine: glyoxylate aminotransferase variants associated with primary hyperoxaluria. 24718375 2014
Entrez Id: 189
Gene Symbol: AGXT
AGXT 		0.800 GeneticVariation disease UNIPROT 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 		0.800 GeneticVariation disease 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 		0.800 CausalMutation disease 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 		0.800 CausalMutation disease 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 		0.800 GeneticVariation disease BEFREE 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 		0.800 Biomarker disease BEFREE Protein homeostasis defects of alanine-glyoxylate aminotransferase: new therapeutic strategies in primary hyperoxaluria type I. 23956997 2013
Entrez Id: 189
Gene Symbol: AGXT
AGXT 		0.800 GeneticVariation disease 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 		0.800 CausalMutation disease 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 		0.800 GeneticVariation disease UNIPROT 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 		0.800 CausalMutation disease 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 		0.800 GeneticVariation disease 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 		0.800 CausalMutation disease CLINVAR A double mutation in AGXT gene in families with primary hyperoxaluria type 1. 24012869 2013
Entrez Id: 189
Gene Symbol: AGXT
AGXT 		0.800 GeneticVariation disease UNIPROT 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 		0.800 GeneticVariation disease 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 		0.800 GeneticVariation disease BEFREE In the present work, we identified the double mutation c.32C>T (Pro11Leu) and c.731T>C (p.Ile244Thr) in AGXT gene in five unrelated Tunisian families with PH1 disease. 24012869 2013
Entrez Id: 189
Gene Symbol: AGXT
AGXT 		0.800 GeneticVariation disease 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