Gene: PKHD1 ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 GeneticVariation disease CLINVAR [Genetic diagnosis of Caroli syndrome with autosomal recessive polycystic kidney disease: a case report and literature review]. 29643536 2018
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 CausalMutation disease CLINVAR Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies. 29956005 2018
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 GeneticVariation disease CLINVAR Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation. 28851938 2017
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 GeneticVariation disease CLINVAR Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing. 28170084 2017
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 CausalMutation disease CLINVAR Genetic analysis of the PKHD1 gene with long-rang PCR sequencing. 27752906 2016
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 GeneticVariation disease CLINVAR Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. 26673778 2016
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 CausalMutation disease CLINVAR [Analysis of PKHD1 gene mutation in a family affected with infantile polycystic kidney disease]. 27577217 2016
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 CausalMutation disease CLINVAR Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. 26673778 2016
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 GeneticVariation disease CLINVAR Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy. 27491411 2016
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 CausalMutation disease CLINVAR An Ashkenazi founder mutation in the PKHD1 gene. 26721323 2016
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 GeneticVariation disease CLINVAR Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis. 27225849 2016
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 CausalMutation disease CLINVAR Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis. 27225849 2016
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 GeneticVariation disease CLINVAR Genetic analysis of the PKHD1 gene with long-rang PCR sequencing. 27752906 2016
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 CausalMutation disease CLINVAR Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations. 26385851 2015
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 GeneticVariation disease CLINVAR Case Report: Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly. 25966130 2015
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 CausalMutation disease CLINVAR All but one of the 109 amplicons were successfully read, and we identified the two PKHD1 mutations in 11 of the ARPKD cases, one mutation in 9 patients, and no mutation in only 2 patients. 25701400 2015
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 GeneticVariation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 CausalMutation disease CLINVAR Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease. 26695994 2015
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 CausalMutation disease CLINVAR Clinical and genetic characterization of a founder PKHD1 mutation in Afrikaners with ARPKD. 25193386 2015
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 CausalMutation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 GeneticVariation disease CLINVAR Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease. 26695994 2015
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 GeneticVariation disease CLINVAR Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease. 24162162 2014
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 GeneticVariation disease CLINVAR Clinical characteristics and mutation analysis of three Chinese children with autosomal recessive polycystic kidney disease. 25124979 2014
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 GeneticVariation disease CLINVAR Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1. 24984783 2014
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 GeneticVariation disease CLINVAR Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease. 25114813 2014