Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 189
Gene Symbol: AGXT
AGXT
0.050 Biomarker disease BEFREE In the genetic disease of Primary Hyperoxaluria Type 1 (PH1), an increased endogenous production of oxalate, due to a deficiency of the liver enzyme alanine-glyoxylate aminotransferase (AGT), results in hyperoxaluria and oxalate kidney stones. 28217701 2017
Entrez Id: 189
Gene Symbol: AGXT
AGXT
0.050 GeneticVariation disease BEFREE Two novel AGXT mutations identified in primary hyperoxaluria type-1 and distinct morphological and structural difference in kidney stones. 27644547 2016
Entrez Id: 189
Gene Symbol: AGXT
AGXT
0.050 Biomarker disease BEFREE Functional deficiency of alanine-glyoxylate aminotransferase in this disease leads to recurrent nephrolithiasis, nephrocalcinosis, systemic oxalosis, and kidney failure. 27568336 2016
Entrez Id: 189
Gene Symbol: AGXT
AGXT
0.050 GeneticVariation disease BEFREE In this study, AGXT gene sequence analyses were performed in 82 patients who were clinically suspected (hyperoxaluria and nephrolithiasis or nephrocalcinosis with or without renal impairment) to have PH1. 27915025 2016
Entrez Id: 189
Gene Symbol: AGXT
AGXT
0.050 GeneticVariation disease BEFREE The new technology could also be helpful in the search for healthy carriers of AGXT mutations amongst family members and their partners, and for screening of AGXT polymorphisms in patients with nephrolithiasis and healthy populations. 11699734 2001