| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.800 | CausalMutation | CLINVAR | An Ashkenazi founder mutation in the PKHD1 gene. | 26721323 | 2016 |
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|
A | 0.800 | CausalMutation | CLINVAR | Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations. | 26385851 | 2015 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease. | 19940839 | 2010 |
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|
A | 0.800 | CausalMutation | CLINVAR | Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. | 15805161 | 2005 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. | 15805161 | 2005 |
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|
A | 0.800 | GeneticVariation | CLINVAR | PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD). | 15108281 | 2004 |
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|
A | 0.800 | CausalMutation | CLINVAR | PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD). | 15108281 | 2004 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). | 12506140 | 2003 |
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|
A | 0.800 | CausalMutation | CLINVAR | Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). | 12506140 | 2003 |
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|
0.800 | GeneticVariation | UNIPROT |