Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 GeneticVariation 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
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 CausalMutation CLINVAR Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies. 29956005

2018
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 GeneticVariation CLINVAR Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation. 28851938

2017
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 GeneticVariation CLINVAR Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing. 28170084

2017
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 CausalMutation CLINVAR Genetic analysis of the PKHD1 gene with long-rang PCR sequencing. 27752906

2016
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 GeneticVariation CLINVAR Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. 26673778

2016
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 CausalMutation CLINVAR [Analysis of PKHD1 gene mutation in a family affected with infantile polycystic kidney disease]. 27577217

2016
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 CausalMutation CLINVAR Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. 26673778

2016
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 GeneticVariation 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
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 CausalMutation CLINVAR An Ashkenazi founder mutation in the PKHD1 gene. 26721323

2016
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 GeneticVariation 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
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 CausalMutation 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
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 GeneticVariation CLINVAR Genetic analysis of the PKHD1 gene with long-rang PCR sequencing. 27752906

2016
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 CausalMutation CLINVAR Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations. 26385851

2015
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 GeneticVariation CLINVAR Case Report: Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly. 25966130

2015
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 CausalMutation 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
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 GeneticVariation 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
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 CausalMutation 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
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 CausalMutation CLINVAR Clinical and genetic characterization of a founder PKHD1 mutation in Afrikaners with ARPKD. 25193386

2015
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 CausalMutation 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
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 GeneticVariation 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
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 GeneticVariation CLINVAR Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease. 24162162

2014
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 GeneticVariation 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
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 GeneticVariation CLINVAR Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1. 24984783

2014
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 GeneticVariation CLINVAR Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease. 25114813

2014