Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | GeneticVariation | UNIPROT | Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease. | 27259053 | 2016 |
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|
0.700 | GeneticVariation | UNIPROT | Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease. | 27259053 | 2016 |
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|
0.700 | GeneticVariation | UNIPROT | Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease. | 27259053 | 2016 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing. | 25333066 | 2014 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing. | 22383692 | 2012 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing. | 22383692 | 2012 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. | 17582161 | 2007 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns. | 15772804 | 2005 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR. | 10364515 | 1999 |
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|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
CA | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR |