Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199531851
rs199531851
0.800 GeneticVariation UNIPROT A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients. 25701400

2015

dbSNP: rs199531851
rs199531851
0.800 GeneticVariation UNIPROT PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. 19914852

2010

dbSNP: rs199531851
rs199531851
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

dbSNP: rs199531851
rs199531851
0.800 GeneticVariation UNIPROT PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD). 15108281

2004

dbSNP: rs199531851
rs199531851
0.800 GeneticVariation UNIPROT A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees. 12846734

2003

dbSNP: rs199531851
rs199531851
0.800 GeneticVariation UNIPROT Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations. 12874454

2003

dbSNP: rs199531851
rs199531851
0.800 GeneticVariation UNIPROT Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). 12506140

2003

dbSNP: rs199531851
rs199531851
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

dbSNP: rs199531851
rs199531851
0.800 GeneticVariation UNIPROT The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. 11919560

2002

dbSNP: rs199531851
rs199531851
A 0.800 CausalMutation CLINVAR