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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|
A | 0.800 | GeneticVariation | CLINVAR | Identification of new mutations in primary hyperoxaluria type 1 (PH1). | 9604803 | 1998 |
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|
A | 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 | GeneticVariation | CLINVAR | Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type. | 24988064 | 2014 |
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|
A | 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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|
A | 0.800 | GeneticVariation | CLINVAR | Primary hyperoxaluria type I: a model for multiple mutations in a monogenic disease within a distinct ethnic group. | 10541294 | 1999 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: implication for diagnosis in North Africa. | 23810941 | 2013 |
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|
A | 0.800 | CausalMutation | CLINVAR | Primary hyperoxaluria type I: a model for multiple mutations in a monogenic disease within a distinct ethnic group. | 10541294 | 1999 |
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|
A | 0.800 | CausalMutation | CLINVAR | Identification of new mutations in primary hyperoxaluria type 1 (PH1). | 9604803 | 1998 |