| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment. | 22547750 | 2012 |
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|
T | 0.800 | GeneticVariation | CLINVAR | Molecular defects of the glycine 41 variants of alanine glyoxylate aminotransferase associated with primary hyperoxaluria type I. | 20133649 | 2010 |
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T | 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 |
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|
T | 0.800 | GeneticVariation | CLINVAR | Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results. | 18282470 | 2008 |
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|
A | 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 |
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|
T | 0.800 | GeneticVariation | CLINVAR | Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations. | 16971151 | 2006 |
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|
T | 0.800 | GeneticVariation | CLINVAR | Overexpression of human alanine:glyoxylate aminotransferase in Escherichia coli: renaturation from guanidine-HCl and affinity for pyridoxal phosphate co-factor. | 15802217 | 2005 |
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|
T | 0.800 | GeneticVariation | CLINVAR | Crystal structure of alanine:glyoxylate aminotransferase and the relationship between genotype and enzymatic phenotype in primary hyperoxaluria type 1. | 12899834 | 2003 |
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T | 0.800 | CausalMutation | CLINVAR | Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene. | 10453743 | 1999 |
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T | 0.800 | GeneticVariation | CLINVAR | Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene. | 10453743 | 1999 |
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|
T | 0.800 | GeneticVariation | CLINVAR | Gene symbol: AGXT. Disease: primary hyperoxaluria type I. | 10394939 | 1999 |