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 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 Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations. 12874454 2003
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 Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations. 26385851 2015
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 CausalMutation disease CLINVAR ARPKD is caused by mutations in the polycystic kidney and hepatic disease 1 (PKHD1) gene, which consists of 86 exons that are variably assembled into a number of alternatively spliced transcripts. 16133180 2005
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 GeneticVariation disease CLINVAR G8: a novel domain associated with polycystic kidney disease and non-syndromic hearing loss. 16632497 2006
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 CausalMutation disease CLINVAR Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease. 15696446 2005
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 CausalMutation disease CLINVAR Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). 16523049 2006
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 CausalMutation disease CLINVAR Given the limitations of antenatal ultrasound, this is only feasible by molecular genetics that became possible in 1994 when PKHD1, the locus for ARPKD, was mapped to chromosome 6p. 15108281 2004
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 GeneticVariation disease CLINVAR Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). 15698423 2005
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 [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 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 CausalMutation disease CLINVAR Here we report PKHD1 sequencing results on 78 ARPKD/CHF patients from 68 families. 19914852 2010
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 Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations. 12874454 2003
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 GeneticVariation disease CLINVAR Mutations in multiple PKD genes may explain early and severe polycystic kidney disease. 22034641 2011
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 CausalMutation disease CLINVAR Clinical and pathological features of a neonate with autosomal recessive polycystic kidney disease caused by a nonsense PKHD1 mutation. 23389334 2013
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 CausalMutation disease CLINVAR Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. 15805161 2005
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 CausalMutation disease CLINVAR We have identified PKHD1, the gene mutated in ARPKD. 11898128 2002