| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference. | 25015577 | 2014 |
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|
G | 0.800 | CausalMutation | CLINVAR | PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. | 19914852 | 2010 |
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|
G | 0.800 | CausalMutation | CLINVAR | Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease. | 19940839 | 2010 |
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|
G | 0.800 | CausalMutation | CLINVAR | Nephrectomy in an autosomal recessive polycystic kidney disease (ARPKD) patient with rapid kidney enlargement and increased expression of EGFR. | 18503009 | 2008 |
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|
G | 0.800 | CausalMutation | CLINVAR | Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD). | 16133180 | 2005 |
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|
G | 0.800 | CausalMutation | CLINVAR | Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). | 15698423 | 2005 |
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|
G | 0.800 | CausalMutation | CLINVAR | A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees. | 12846734 | 2003 |
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|
G | 0.800 | CausalMutation | CLINVAR | Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations. | 12874454 | 2003 |
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|
G | 0.800 | GeneticVariation | CLINVAR |