Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs369925690
rs369925690
C 0.800 CausalMutation CLINVAR A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients. 25701400

2015

dbSNP: rs369925690
rs369925690
C 0.800 CausalMutation CLINVAR Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease. 26695994

2015

dbSNP: rs369925690
rs369925690
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

dbSNP: rs369925690
rs369925690
C 0.800 CausalMutation CLINVAR Combined liver-kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): indication and outcome. 23582048

2013

dbSNP: rs369925690
rs369925690
C 0.800 CausalMutation CLINVAR Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease. 19940839

2010

dbSNP: rs369925690
rs369925690
C 0.800 CausalMutation CLINVAR PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. 19914852

2010

dbSNP: rs369925690
rs369925690
C 0.800 CausalMutation CLINVAR Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease. 20413436

2010

dbSNP: rs369925690
rs369925690
C 0.800 CausalMutation CLINVAR Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. 15805161

2005

dbSNP: rs369925690
rs369925690
C 0.800 CausalMutation CLINVAR Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). 15698423

2005

dbSNP: rs369925690
rs369925690
C 0.800 CausalMutation CLINVAR Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). 12506140

2003

dbSNP: rs369925690
rs369925690
C 0.800 CausalMutation CLINVAR Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia. 12925574

2003

dbSNP: rs369925690
rs369925690
C 0.800 CausalMutation CLINVAR A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees. 12846734

2003

dbSNP: rs369925690
rs369925690
C 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

dbSNP: rs369925690
rs369925690
C 0.800 CausalMutation CLINVAR The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. 11919560

2002