rs180177227, AGXT

N. diseases: 3
Disease: Primary hyperoxaluria, type I ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Primary hyperoxaluria, type I
CUI: C0268164
Disease: 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
Primary hyperoxaluria, type I
CUI: C0268164
Disease: Primary hyperoxaluria, type I
0.800 GeneticVariation UNIPROT Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment. 22547750 2012
Primary hyperoxaluria, type I
CUI: C0268164
Disease: Primary hyperoxaluria, type I
0.800 GeneticVariation CLINVAR Biochemical analyses are instrumental in identifying the impact of mutations on holo and/or apo-forms and on the region(s) of alanine:glyoxylate aminotransferase variants associated with primary hyperoxaluria type I. 22018727 2012
Primary hyperoxaluria, type I
CUI: C0268164
Disease: Primary hyperoxaluria, type I
0.800 CausalMutation CLINVAR Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1. 17495019 2007
Primary hyperoxaluria, type I
CUI: C0268164
Disease: Primary hyperoxaluria, type I
0.800 CausalMutation CLINVAR Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1. 17495019 2007
Primary hyperoxaluria, type I
CUI: C0268164
Disease: Primary hyperoxaluria, type I
0.800 GeneticVariation CLINVAR Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1. 17495019 2007
Primary hyperoxaluria, type I
CUI: C0268164
Disease: Primary hyperoxaluria, type I
0.800 CausalMutation CLINVAR The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1. 15963748 2006