DISCLAIMER
Database Description
The Autosomal Dominant Polycystic Kidney Disease (ADPKD) Database (PKDB) has been established
to
facilitate the characterization of ADPKD variants in PKD1 and PKD2, the two genes known to have mutations causative of ADPKD. It has been set up to be a repository for all variants in these genes, whether likely disease causing or not.
Please provide feedback to the Administrator on further ways to improve the database.
Appropriate Data Usage
Information in the database should be used for research purposes only.
While every effort has been made to depict accurately the nature of the gene variants, users of the database should treat the reported variants with extreme caution. Some changes are neutral polymorphisms and the pathogenicity of many of the gene variants, including most of the missense variants, is unproven. The data within the database are not intended to be used for the provision of any clinical recommendations.
The database now contains additional scoring data to aide in determining the potential pathogenicity of the stored mutations.
This additional information should be used for research purposes only!
Data Submission
Data submission will be accepted by E-Mail (Administrator) using the data submission form. Before any submitted data is integrated into the database, it will be examined and edited where necessary by curators of the PKDB in order to ensure the quality of the input data is maintained.
Respecting The Efforts Of Contributing Authors
Any data within the database that has not been published in a periodic journal must be treated as privileged information. Such data should not be disseminated to others without the permission of the contributing author. Any publications arising from the use of PKDB should cite the PKDB URL:PKDB URL: http://pkd.mayo.edu
User Acknowledgement
In entering this database, you as a user acknowledge having read, understood and are willing to abide by the above stated disclaimer.
New Features In This Release
- Cross Reference With NCBI RefSeq Gene Accession
- Integration With NCBI Sequence Viewer
- Improved pathogenicity categorization of mutations through the application of an aggregate scoring mechanism based on mutation scores
generated by SIFT and GVGD and contextual scores derived from family and other information
- Additional 64 New Records
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