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 Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease. 24710345 2014
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 CausalMutation disease CLINVAR Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease. 24162162 2014
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 CausalMutation disease CLINVAR Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1. 24984783 2014
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 CausalMutation 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 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 Combined liver-kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): indication and outcome. 23582048 2013
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 GeneticVariation 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 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 Germline PKHD1 mutations are protective against colorectal cancer. 21274727 2011
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 GeneticVariation disease CLINVAR Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease. 21945273 2011
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 Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease. 19940839 2010
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 CausalMutation disease CLINVAR Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease. 20413436 2010
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 GeneticVariation disease CLINVAR Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease. 20413436 2010
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 GeneticVariation 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 GeneticVariation disease CLINVAR Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease. 19940839 2010
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 GeneticVariation disease CLINVAR Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease. 19021639 2009
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 GeneticVariation disease CLINVAR Rhizobacteria containing ACC-deaminase confer salt tolerance in maize grown on salt-affected fields. 19940939 2009
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 CausalMutation disease CLINVAR Nephrectomy in an autosomal recessive polycystic kidney disease (ARPKD) patient with rapid kidney enlargement and increased expression of EGFR. 18503009 2008
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 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 GeneticVariation 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 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 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 GeneticVariation disease CLINVAR Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). 15698423 2005