rs760222236
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
G
0.800
CausalMutation
CLINVAR
Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.
27225849
2016
rs760222236
×
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
rs760222236
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
G
0.800
CausalMutation
CLINVAR
Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease.
24162162
2014
rs760222236
×
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
rs760222236
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
G
0.800
CausalMutation
CLINVAR
Combined liver-kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): indication and outcome.
23582048
2013
rs760222236
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
G
0.800
CausalMutation
CLINVAR
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
19914852
2010
rs760222236
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
G
0.800
CausalMutation
CLINVAR
Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.
19940839
2010
rs760222236
×
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
rs760222236
×
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
rs760222236
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
G
0.800
CausalMutation
CLINVAR
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
15698423
2005
rs760222236
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
G
0.800
CausalMutation
CLINVAR
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
15805161
2005
rs760222236
×
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
rs760222236
×
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
rs760222236
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
G
0.800
CausalMutation
CLINVAR
A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.
12846734
2003
rs760222236
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
G
0.800
CausalMutation
CLINVAR
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).
12506140
2003
rs760222236
×
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
rs760222236
×
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
rs760222236
×
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
rs760222236
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
G
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
rs760222236
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
G
0.800
CausalMutation
CLINVAR
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.
11919560
2002
rs760222236
×
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