rs137852944
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
A
0.810
CausalMutation
CLINVAR
A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.
12846734
2003
rs137852944
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
0.810
GeneticVariation
UNIPROT
A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.
12846734
2003
rs137852944
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
0.810
GeneticVariation
UNIPROT
A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients.
25701400
2015
rs137852944
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
A
0.810
CausalMutation
CLINVAR
Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD).
16133180
2005
rs137852944
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
A
0.810
CausalMutation
CLINVAR
Clinical characteristics and mutation analysis of three Chinese children with autosomal recessive polycystic kidney disease.
25124979
2014
rs137852944
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
A
0.810
CausalMutation
CLINVAR
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
15805161
2005
rs137852944
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
A
0.810
CausalMutation
CLINVAR
Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease.
20413436
2010
rs137852944
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
0.810
GeneticVariation
BEFREE
Except for a few population-specific founder alleles and the common c.107C>T (p.Thr36Met ) missense change, PKHD1 is characterized by significant allelic diversity, making mutation screening time-consuming and labor-intensive.
15706593
2005
rs137852944
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
A
0.810
CausalMutation
CLINVAR
First, we assayed a European cohort of ARPKD patients and found T36M was responsible for 13.1% of mutations.
21274727
2011
rs137852944
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
A
0.810
CausalMutation
CLINVAR
Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease.
15696446
2005
rs137852944
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
0.810
GeneticVariation
UNIPROT
Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations.
12874454
2003
rs137852944
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
A
0.810
CausalMutation
CLINVAR
Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations.
12874454
2003
rs137852944
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
A
0.810
CausalMutation
CLINVAR
Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.
26695994
2015
rs137852944
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
A
0.810
CausalMutation
CLINVAR
Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD).
16199545
2005
rs137852944
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
A
0.810
CausalMutation
CLINVAR
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).
15108277
2004
rs137852944
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
0.810
GeneticVariation
UNIPROT
PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).
15108281
2004
rs137852944
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
A
0.810
CausalMutation
CLINVAR
PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).
15108281
2004
rs137852944
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
A
0.810
CausalMutation
CLINVAR
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
19914852
2010
rs137852944
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
0.810
GeneticVariation
UNIPROT
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
19914852
2010
rs137852944
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
0.810
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
rs137852944
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
A
0.810
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
rs137852944
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
A
0.810
CausalMutation
CLINVAR
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).
12506140
2003
rs137852944
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
0.810
GeneticVariation
UNIPROT
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).
12506140
2003
rs137852944
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
0.810
GeneticVariation
UNIPROT
Successful transplantation in a child with rapid progression of autosomal recessive polycystic kidney disease associated with a novel mutation.
16677362
2006
rs137852944
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
A
0.810
CausalMutation
CLINVAR
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.
11919560
2002