rs142107837
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
0.800
GeneticVariation
UNIPROT
A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients.
25701400
2015
rs142107837
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
T
0.800
GeneticVariation
CLINVAR
Case Report: Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly.
25966130
2015
rs142107837
×
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
rs142107837
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
T
0.800
GeneticVariation
CLINVAR
Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1.
24984783
2014
rs142107837
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
0.800
GeneticVariation
UNIPROT
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
19914852
2010
rs142107837
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
0.800
GeneticVariation
UNIPROT
Successful transplantation in a child with rapid progression of autosomal recessive polycystic kidney disease associated with a novel mutation.
16677362
2006
rs142107837
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
T
0.800
GeneticVariation
CLINVAR
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
15805161
2005
rs142107837
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
T
0.800
GeneticVariation
CLINVAR
Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).
15706593
2005
rs142107837
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
T
0.800
GeneticVariation
CLINVAR
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
15698423
2005
rs142107837
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
T
0.800
GeneticVariation
CLINVAR
Molecular genetics of autosomal recessive polycystic kidney disease.
14741187
2004
rs142107837
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
0.800
GeneticVariation
UNIPROT
PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).
15108281
2004
rs142107837
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
T
0.800
GeneticVariation
CLINVAR
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).
12506140
2003
rs142107837
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
0.800
GeneticVariation
UNIPROT
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).
12506140
2003
rs142107837
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
0.800
GeneticVariation
UNIPROT
Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations.
12874454
2003
rs142107837
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
T
0.800
GeneticVariation
CLINVAR
Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations.
12874454
2003
rs142107837
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
0.800
GeneticVariation
UNIPROT
A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.
12846734
2003
rs142107837
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
0.800
GeneticVariation
UNIPROT
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.
11919560
2002
rs142107837
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
0.800
GeneticVariation
UNIPROT
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