MutaDATABASE is a publicly available, open access, free, online database that provides standardised information on human disease genes, variations, and clinical features of patients with monogenic disease. 

 

Overview

 

New genes in MutaDATABASE

 

New gene reviews in MutaREVIEWS

 

Total number of genes in MutaDATABASE

 

Total number of gene reviews in MutaREVIEWS

 

 

Disclaimer:

MutaDATABASE makes no warranty as to the accuracy of the information contained within this database. MutaDATABASE will not be responsible for any consequences arising out of any inaccuracies or omissions, nor be liable for damages, direct or indirect, that result from the use of this website.       

 

News

Announcing new collaboration
July 25, 2010:
Heidi Rehm joined the MutaDATABASE project as a PI. She is Director of the Laboratory for Molecular Medicine at the Partners Healthcare Center for Personalized Genetic Medicine and Assistant Professor of Pathology at Harvard Medical School and Brigham & Women's Hospital. Heidi will coordinate the activities of a Harvard group within the MutaDATABASE project, including George Church, Alexander Wait Zaranek and Joe Thakuria.
 
Announcing new collaboration
July 16, 2010: MutaDATABASE announces a collaboration with LOVD as Johan Den Dunnen, developper of LOVD, joins the MutaDATABASE project as a PI. Johan is Professor Medical Genome Technology at the Leiden University Medical Center (LUMC). His group developed the Leiden Open Variation Database (LOVD) and the Mutalyzer tool. He is a board member of the Human Genome Variation Society (HGVS) and the secretary for the mutation nomenclature web pages.
 
Recommendations available
June 16, 2010 : The MutaDATABASE "Recommendations on the pathogenicity of DNA variations" are available
 
Board of Advisors complete

June 6, 2010 : MutaDATABASE has completed its Board of Advisors, now consisting of 75 experts

You can click on Board of Advisors to see the complete list of Advisors
 
MutaDATABASE presentation

May 28, 2010 : A powerpoint slide presentation on the MutaDATABASE project is now available

See Slide Presentations to download a copy.