rs369925690
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
C
0.800
CausalMutation
CLINVAR
A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients.
25701400
2015
rs369925690
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
C
0.800
CausalMutation
CLINVAR
Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.
26695994
2015
rs369925690
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
0.800
GeneticVariation
UNIPROT
Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference.
25015577
2014
rs369925690
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
C
0.800
CausalMutation
CLINVAR
Combined liver-kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): indication and outcome.
23582048
2013
rs369925690
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
C
0.800
CausalMutation
CLINVAR
Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.
19940839
2010
rs369925690
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
C
0.800
CausalMutation
CLINVAR
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
19914852
2010
rs369925690
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
C
0.800
CausalMutation
CLINVAR
Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease.
20413436
2010
rs369925690
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
C
0.800
CausalMutation
CLINVAR
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
15805161
2005
rs369925690
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
C
0.800
CausalMutation
CLINVAR
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
15698423
2005
rs369925690
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
C
0.800
CausalMutation
CLINVAR
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).
12506140
2003
rs369925690
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
C
0.800
CausalMutation
CLINVAR
Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia.
12925574
2003
rs369925690
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
C
0.800
CausalMutation
CLINVAR
A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.
12846734
2003
rs369925690
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
C
0.800
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
rs369925690
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
C
0.800
CausalMutation
CLINVAR
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.
11919560
2002