Gene: PKHD1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852944
rs137852944
PKHD1
A 0.810 CausalMutation CLINVAR Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease. 15696446

2005
dbSNP: rs137852944
rs137852944
PKHD1
A 0.810 CausalMutation CLINVAR PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD). 15108281

2004
dbSNP: rs137852944
rs137852944
PKHD1
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
PKHD1
A 0.810 CausalMutation CLINVAR Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). 12506140

2003
dbSNP: rs137852944
rs137852944
PKHD1
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
PKHD1
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
PKHD1
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
dbSNP: rs137852944
rs137852944
PKHD1
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
PKHD1
A 0.810 CausalMutation CLINVAR Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations. 12874454

2003
dbSNP: rs137852944
rs137852944
PKHD1
A 0.810 CausalMutation CLINVAR Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. 15805161

2005
dbSNP: rs137852944
rs137852944
PKHD1
A 0.810 CausalMutation CLINVAR Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD). 16199545

2005
dbSNP: rs137852944
rs137852944
PKHD1
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
PKHD1
A 0.810 CausalMutation CLINVAR A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees. 12846734

2003
dbSNP: rs137852944
rs137852944
PKHD1
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
PKHD1
A 0.810 CausalMutation CLINVAR PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). 15108277

2004
dbSNP: rs137852944
rs137852944
PKHD1
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: rs1210846081
rs1210846081
PKHD1
C 0.800 GeneticVariation CLINVAR Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). 16523049

2006
dbSNP: rs1210846081
rs1210846081
PKHD1
C 0.800 CausalMutation CLINVAR

dbSNP: rs1210846081
rs1210846081
PKHD1
C 0.800 GeneticVariation CLINVAR Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. 15805161

2005
dbSNP: rs1210846081
rs1210846081
PKHD1
C 0.800 GeneticVariation CLINVAR Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations. 12874454

2003
dbSNP: rs1210846081
rs1210846081
PKHD1
C 0.800 GeneticVariation CLINVAR A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees. 12846734

2003
dbSNP: rs1210846081
rs1210846081
PKHD1
C 0.800 GeneticVariation CLINVAR G8: a novel domain associated with polycystic kidney disease and non-syndromic hearing loss. 16632497

2006
dbSNP: rs137852945
rs137852945
PKHD1
A 0.800 CausalMutation CLINVAR

dbSNP: rs137852950
rs137852950
PKHD1 ; LOC105375087
C 0.800 CausalMutation CLINVAR

dbSNP: rs142107837
rs142107837
PKHD1
T 0.800 GeneticVariation CLINVAR Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations. 12874454

2003