rs137852950
|
PKHD1;LOC105375087
|
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 |
rs137852950
|
PKHD1;LOC105375087
|
Autosomal Recessive Polycystic Kidney Disease
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs137852950
|
PKHD1;LOC105375087
|
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 |
rs137852950
|
PKHD1;LOC105375087
|
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 |
rs137852950
|
PKHD1;LOC105375087
|
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 |
rs137852950
|
PKHD1;LOC105375087
|
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 |
rs137852950
|
PKHD1;LOC105375087
|
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 |
rs137852950
|
PKHD1;LOC105375087
|
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 |
rs137852950
|
PKHD1;LOC105375087
|
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 |
rs137852950
|
PKHD1;LOC105375087
|
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 |
rs137852950
|
PKHD1;LOC105375087
|
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 |