rs180177238, AGXT

N. diseases: 1
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 Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing. 25629080 2015
Primary hyperoxaluria, type I
CUI: C0268164
Disease: Primary hyperoxaluria, type I
0.800 GeneticVariation CLINVAR Vitamin B6 in primary hyperoxaluria I: first prospective trial after 40 years of practice. 24385516 2014
Primary hyperoxaluria, type I
CUI: C0268164
Disease: 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
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 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 Partial trypsin digestion as an indicator of mis-folding of mutant alanine:glyoxylate aminotransferase and chaperone effects of specific ligands. Study of a spectrum of missense mutants. 18448374 2008
Primary hyperoxaluria, type I
CUI: C0268164
Disease: Primary hyperoxaluria, type I
0.800 GeneticVariation CLINVAR Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations. 16971151 2006
Primary hyperoxaluria, type I
CUI: C0268164
Disease: Primary hyperoxaluria, type I
0.800 GeneticVariation CLINVAR A vertical (pseudodominant) pattern of inheritance in the autosomal recessive disease primary hyperoxaluria type 1: lack of relationship between genotype, enzymic phenotype, and disease severity. 9002528 1997
Primary hyperoxaluria, type I
CUI: C0268164
Disease: Primary hyperoxaluria, type I
0.800 GeneticVariation CLINVAR A serine-to-phenylalanine substitution leads to loss of alanine:glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1. 1301173 1992
Primary hyperoxaluria, type I
CUI: C0268164
Disease: Primary hyperoxaluria, type I
0.800 CausalMutation CLINVAR A serine-to-phenylalanine substitution leads to loss of alanine:glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1. 1301173 1992