Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.800 | GeneticVariation | UNIPROT | A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients. | 25701400 | 2015 |
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0.800 | GeneticVariation | UNIPROT | PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. | 19914852 | 2010 |
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0.800 | GeneticVariation | UNIPROT | Successful transplantation in a child with rapid progression of autosomal recessive polycystic kidney disease associated with a novel mutation. | 16677362 | 2006 |
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0.800 | GeneticVariation | UNIPROT | PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD). | 15108281 | 2004 |
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|
0.800 | GeneticVariation | UNIPROT | Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). | 12506140 | 2003 |
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|
0.800 | GeneticVariation | UNIPROT | A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees. | 12846734 | 2003 |
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|
0.800 | GeneticVariation | UNIPROT | Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations. | 12874454 | 2003 |
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|
0.800 | GeneticVariation | UNIPROT | The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. | 11919560 | 2002 |
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0.800 | GeneticVariation | UNIPROT | PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. | 11898128 | 2002 |
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|
G | 0.800 | CausalMutation | CLINVAR |