| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.800 | GeneticVariation | CLINVAR | Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing. | 25629080 | 2015 |
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T | 0.800 | GeneticVariation | CLINVAR | Vitamin B6 in primary hyperoxaluria I: first prospective trial after 40 years of practice. | 24385516 | 2014 |
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T | 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 |
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|
T | 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 |
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|
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 | 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 | 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 | 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 |
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T | 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 |
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|
T | 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 |