Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852944
rs137852944
A 0.810 CausalMutation CLINVAR Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease. 26695994

2015

dbSNP: rs137852944
rs137852944
0.810 GeneticVariation UNIPROT A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients. 25701400

2015

dbSNP: rs137852944
rs137852944
A 0.810 CausalMutation CLINVAR Clinical characteristics and mutation analysis of three Chinese children with autosomal recessive polycystic kidney disease. 25124979

2014

dbSNP: rs137852944
rs137852944
A 0.810 CausalMutation CLINVAR First, we assayed a European cohort of ARPKD patients and found T36M was responsible for 13.1% of mutations. 21274727

2011

dbSNP: rs137852944
rs137852944
A 0.810 CausalMutation CLINVAR PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. 19914852

2010

dbSNP: rs137852944
rs137852944
0.810 GeneticVariation UNIPROT PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. 19914852

2010

dbSNP: rs137852944
rs137852944
A 0.810 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: rs137852944
rs137852944
0.810 GeneticVariation UNIPROT Successful transplantation in a child with rapid progression of autosomal recessive polycystic kidney disease associated with a novel mutation. 16677362

2006

dbSNP: rs137852944
rs137852944
A 0.810 CausalMutation CLINVAR Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD). 16133180

2005

dbSNP: rs137852944
rs137852944
A 0.810 CausalMutation CLINVAR Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. 15805161

2005

dbSNP: rs137852944
rs137852944
A 0.810 CausalMutation CLINVAR Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD). 16199545

2005

dbSNP: rs137852944
rs137852944
A 0.810 CausalMutation CLINVAR Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease. 15696446

2005

dbSNP: rs137852944
rs137852944
0.810 GeneticVariation BEFREE Except for a few population-specific founder alleles and the common c.107C>T (p.Thr36Met) missense change, PKHD1 is characterized by significant allelic diversity, making mutation screening time-consuming and labor-intensive. 15706593

2005

dbSNP: rs137852944
rs137852944
0.810 GeneticVariation UNIPROT PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD). 15108281

2004

dbSNP: rs137852944
rs137852944
A 0.810 CausalMutation CLINVAR PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD). 15108281

2004

dbSNP: rs137852944
rs137852944
A 0.810 CausalMutation CLINVAR PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). 15108277

2004

dbSNP: rs137852944
rs137852944
0.810 GeneticVariation UNIPROT Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations. 12874454

2003

dbSNP: rs137852944
rs137852944
A 0.810 CausalMutation CLINVAR A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees. 12846734

2003

dbSNP: rs137852944
rs137852944
A 0.810 CausalMutation CLINVAR Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). 12506140

2003

dbSNP: rs137852944
rs137852944
0.810 GeneticVariation UNIPROT Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). 12506140

2003

dbSNP: rs137852944
rs137852944
A 0.810 CausalMutation CLINVAR Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations. 12874454

2003

dbSNP: rs137852944
rs137852944
0.810 GeneticVariation UNIPROT A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees. 12846734

2003

dbSNP: rs137852944
rs137852944
A 0.810 CausalMutation CLINVAR The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. 11919560

2002

dbSNP: rs137852944
rs137852944
0.810 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

dbSNP: rs137852944
rs137852944
A 0.810 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