| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.800 | CausalMutation | CLINVAR | Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis. | 27225849 | 2016 |
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|
A | 0.800 | CausalMutation | CLINVAR | Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease. | 26695994 | 2015 |
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|
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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|
A | 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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|
A | 0.800 | CausalMutation | CLINVAR | Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. | 15805161 | 2005 |
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|
A | 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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|
A | 0.800 | CausalMutation | CLINVAR | 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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|
A | 0.800 | CausalMutation | CLINVAR | [Neoplasic perineal implantation following needle biopsy (author's transl)]. | 1189128 | 1975 |
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|
A | 0.800 | GeneticVariation | CLINVAR |