rs200179145
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
T
0.800
CausalMutation
CLINVAR
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.
26673778
2016
rs200179145
×
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
rs200179145
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
T
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
rs200179145
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
T
0.800
GeneticVariation
CLINVAR
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
19914852
2010
rs200179145
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
T
0.800
CausalMutation
CLINVAR
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
19914852
2010
rs200179145
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
T
0.800
GeneticVariation
CLINVAR
Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).
16523049
2006
rs200179145
×
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
rs200179145
×
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
rs200179145
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
T
0.800
CausalMutation
CLINVAR
Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).
15706593
2005
rs200179145
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
T
0.800
CausalMutation
CLINVAR
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
15805161
2005
rs200179145
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
T
0.800
CausalMutation
CLINVAR
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
15698423
2005
rs200179145
×
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
rs200179145
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
T
0.800
GeneticVariation
CLINVAR
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).
15108277
2004
rs200179145
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
T
0.800
GeneticVariation
CLINVAR
A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.
12846734
2003
rs200179145
×
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
rs200179145
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
T
0.800
CausalMutation
CLINVAR
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).
12506140
2003
rs200179145
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
T
0.800
CausalMutation
CLINVAR
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.
11919560
2002
rs200179145
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
Autosomal Recessive Polycystic Kidney Disease
T
0.800
GeneticVariation
CLINVAR
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.
11919560
2002