| 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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|
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 | 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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|
T | 0.800 | GeneticVariation | CLINVAR | Hyperoxaluria and rapid development of renal failure following a combined liver and kidney transplantation: emphasis on sequential transplantation. | 23430879 | 2012 |
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|
A | 0.800 | CausalMutation | CLINVAR | Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene. | 19479957 | 2009 |
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|
T | 0.800 | GeneticVariation | CLINVAR | In vivo and in vitro examination of stability of primary hyperoxaluria-associated human alanine:glyoxylate aminotransferase. | 18782763 | 2008 |
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|
T | 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 |
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|
T | 0.800 | GeneticVariation | CLINVAR | Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis. | 17460142 | 2007 |
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|
T | 0.800 | CausalMutation | CLINVAR | Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria. | 15849466 | 2005 |