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PKDB specifications


Unique identifier OMICS_05762
Alternative name Polycystic Kidney Disease Mutation Database
Restrictions to use None
Maintained Yes


  • Primates
    • Homo sapiens


  • person_outline PKDB Team

Publication for Polycystic Kidney Disease Mutation Database

PKDB citations


Detecting PKD1 variants in polycystic kidney disease patients by single‐molecule long‐read sequencing

Hum Mutat
PMCID: 5488171
PMID: 28378423
DOI: 10.1002/humu.23223

[…] Previously known pathogenic variants for PKD1 gene were obtained from PKDB. Only variants that were classified as “definitely pathogenic” were selected for further analysis. Large deletions (few hundred bp to several Kbp long) were excluded from the analysis as they are […]


An Efficient and Comprehensive Strategy for Genetic Diagnostics of Polycystic Kidney Disease

PLoS One
PMCID: 4315576
PMID: 25646624
DOI: 10.1371/journal.pone.0116680

[…] n and classification of identified variants was conducted as described previously [],[]. Additionally, PKD1 variants were annotated with the entry from the ADPKD Mutation Database Version 3.0 ( Results from NGS were compared to results from preceded Sanger sequencing (gold standard) in exonic regions ± 30 bp of flanking intronic sequence using bioinformatic scripts and by vi […]


Identification of novel PKD1 and PKD2 mutations in South Korean patients with autosomal dominant polycystic kidney disease

BMC Med Genet
PMCID: 4411869
PMID: 25491204
DOI: 10.1186/s12881-014-0129-y
call_split See protocol

[…] od Institute (NHLBI) Exome Sequencing Project (ESP) database (, the NCBI database of Single Nucleotide Polymorphisms (dbSNPs), and the ADPKD Mutation Database (, PKDB) were checked for previously reported sequence variants.The pathogenicity of missense variants was evaluated by in silico analyses using Sorting Intolerant from Tolerant (SIFT) (ht […]


Mouse strain specific gene expression differences for illumina microarray expression profiling in embryos

BMC Res Notes
PMCID: 3497855
PMID: 22583621
DOI: 10.1186/1756-0500-5-232

[…] To extract genomic DNA embryos were removed from the yolk sac, briefly washed in 1x PBS and placed in 500 ul PKDB digestion buffer (50 mM Tris–HCl (pH 8.0), 200 mM NaCl, 5 mM EDTA, 1% SDS) containing 1 mg/ml proteinase K and incubated at 55°C overnight. Digested samples were extracted with an equal volume of […]


Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease

BMC Med Genet
PMCID: 3341574
PMID: 22185115
DOI: 10.1186/1471-2350-12-164
call_split See protocol

[…] changes and synonymous were evaluated using a method recommended by Tan et al.Firstly, gene variations were classified by analyzing recurrence as reported in the literature, ADPKD mutation database (PKDB) [] and Single Nucleotide Polymorphism database (dbSNP). Secondly, novel variations and previous unclassified variations were checked in family members available and 100 unrelated normal controls […]


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PKDB institution(s)
The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia

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