IDbases http://bioinf.uta.fi/base_root/ ID-bases-logo.jpg (IDbases) - mutations in many genes. Anne Durandy, Michael Hershfield, Laszlo Marodi, Luigi D. Notarangelo, Claudio Pignata, Jose R. Regueiro, Dirk Roos, C.I.Edvard Smith, Jouni Valiaho, Mauno Vihinen, Anna Villa, Institute of Medical Technology, University of Tampere, Tampere, Finland ARdb http://www.androgendb.mcgill.ca/ (ARdb) - mutations in the AR gene. Bruce Gottlieb, Lady Davis Institute for Medical Research, Sir Mortimer B. Davis Jewish General Hospital, Montreal, Quebec, Canada BGMUT http://www.ncbi.nlm.nih.gov/projects/mhc/xslcgi.fcgi?cmd=bgmut/home (BGMUT) - mutations in many genes. Olga O. Blumenfeld and Santosh K. Patnaik, Department of Biochemistry, Albert Einstein College of Medicine, Bronx, New York CA2base http://bioinf.uta.fi/CA2base/ (CA2base) - mutations in the CA2 gene. Mauno Vihinen, Institute of Medical Technology, University of Tampere, Tampere, Finland CFMDB http://www.genet.sickkids.on.ca/cftr/ cftrlogo.png (CFMDB) - mutations in the CFTR gene. Julian Zielenski and Richard Sang, The Hospital for Sick Children, Genetics and Genomic Biology, Toronto, Ontario, Canada CLCN7base http://bioinf.uta.fi/CLCN7base/ (CLCN7base) - mutations in the CLCN7 gene. Mauno Vihinen, Institute of Medical Technology, University of Tampere, Tampere, Finland dbPEX http://www.dbpex.org/ dbPEX.logo.2006.png (dbPEX) - mutations in the PEX genes. Nancy Braverman, Institute of Genetic Medicine and Dept. of Pediatrics, Johns Hopkins Medical Center, Baltimore, MD
Steven Steinberg, Dept. of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD FHCDB http://www.angis.org.au/Databases/Heart/ FHCmutDb.png (FHCDB) - mutations in various genes known to cause familial hypertrophic cardiomyopathy. This project is a collaborative effort among the Department of Molecular and Clinical Genetics and Department of Cardiology at the Royal Prince Alfred Hospital, and the Australian National Genomic Information Services. The curators are:
Dr. Bing Yu, Department of Molecular Genetics, C39 - Royal Prince Alfred Hospital, The University of Sydney, NSW 2006 Australia
Professor R. Trent, Department of Molecular Genetics, K25 - Medical Foundation Building, The University of Sydney, NSW 2006 Australia HbVar http://globin.bx.psu.edu/hbvar/menu.html HbVarLogo2.png (HbVar) - variants and thalassemia mutations in the globin loci. George Patrinos, Erasmus University, Rotterdam, Netherlands
Henri Wajcman, Hospital Henri Mondor, Creteil, France
David H.K. Chui, Boston University, Boston, Massachusetts
Nicholas Anagnou, University of Athens and IIBEAA, Athens, Greece
Georgi D. Efremov, Macedonian Academy of Sciences and Arts, RCGEB, Skopje, Macedonia IARC TP53 http://www-p53.iarc.fr/ - mutations in the TP53 gene. Magali Olivier, Pierre Hainaut, Group of Molecular Carcinogenesis and Biomarkers, France IPNMDB http://www.molgen.ua.ac.be/CMTMutations/ logo_UA_U_kl_sm.jpg (IPNMDB) - mutations in many genes. Eva Nelis, VIB - Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium VWF http://www.vwf.group.shef.ac.uk/ ISTH_Logo_sm.jpg (ISTH SSC VWF) - mutations found in the gene for human von Willebrand Factor. Dan Hampshire, Anne Goodeve, Nick Beauchamp, David Lillicrap, Ross MacLachlan, The University of Sheffield, United Kingdom KinMutBase http://bioinf.uta.fi/KinMutBase/ (KinMutBase) - mutations in protein kinase domains. C. Ortutay, Jouni Valiaho, K. Stenberg, Mauno Vihinen, Institute of Medical Technology, University of Tampere, Tampere, Finland LQTSdb http://www.ssi.dk/graphics/html/lqtsdb/lqtsdb.htm lqtslogo.png (LQTSdb) - mutations associated with Long QT syndrome. Michael Christiansen, Lars Allan Larsen, and Paal Skytt Andersen, Molecular Cardiology Group, Statens Serum Institut, Denmark LOVD http://www.dmd.nl/ (LMDp) - mutations in many genes Johan T. den Dunnen, Leiden University Medical Center, Leiden, Nederland
See also the database tool LOVD OSTM1base http://bioinf.uta.fi/OSTM1base/ (OSTM1base) - mutations in the OSTM1 gene. Mauno Vihinen, Institute of Medical Technology, University of Tampere, Tampere, Finland PAHdb http://www.pahdb.mcgill.ca/ PAHLogoSmall.png - mutations in the phenylalanine hydroxylase (PAH) gene. Charles R. Scriver, McGill University, Montreal Children's Hospital Research Institute, Montreal, Quebec, Canada RettBASE http://mecp2.chw.edu.au/ irsaSmall.jpg (RettBASE) - mutations in the MECP2 gene. John Christodoulou, Gladys Ho, Andrew Grimm (previous database coordinator), Children's Hospital at Westmead, Sydney and University of Sydney, Australia RISN http://www.retina-international.org/sci-news/mutation.htm rispot.jpg (RISN) - mutations in genes underlying retinal disorders. Markus Preising, Molecular Genetics Laboratory, University of Regensburg, Bavaria, Germany SP http://www.expasy.org/sprot/ uniprot.jpg (SP) - genome-wide variants within coding regions of UCSC Known Genes. Swiss Institute of Bioinformatics, Geneva, Switzerland HIFD http://www.interfil.org/ HIFDlogo.png Lim Yun Ping, Centre for Molecular Medicine and the Bioinformatics Institute, Singapore ADM http://www.molgen.ua.ac.be/ADMutations/ Marc Cruts, Flanders Institute for Biotechnology and University of Antwerp, Belgium ALPL http://www.sesep.uvsq.fr/Database.html Etienne Mornet, Centre Hospitalier de Versailles, Le Chesnay, France CASRdb http://www.casrdb.mcgill.ca/ casrdb_logo_sm.jpg Geoffrey Hendy and David Cole, McGill University, Montreal, Quebec, Canada CBS http://www.uchsc.edu/cbs/cbsdata/cbsmain.htm Jan P. Kraus and Miroslav Janosik, University of Colorado, Colorado USA
Viktor Kozich, Institute of Inherited Metabolic Diseases, Charles University in Prague, First Faculty of Medicine, Czech Republic MMR http://www.med.mun.ca/mmrvariants/ Michael O. Woods, Faculty of Medicine, HSC, Memorial University of Newfoundland, St. John's, NL, Canada RPGR https://rpgr.hgu.mrc.ac.uk/index.php?select_db=RPGR Xinhua Shu and Alan Wright dbRIP http://falcon.roswellpark.org:9090/ Ping Liang, Roswell Park Cancer Institute, Buffalo, New York
Mark Batzer, Louisiana State University, Baton Rouge, LA X-ALD http://www.x-ald.nl/ xaldlogo.jpg (X-ALD) - mutations in the ABCD1 gene. Stephan Kemp, Academic Medical Center/Emma Children's Hospital, Amsterdam, The Netherlands Fanconi http://www.rockefeller.edu/fanconi/mutate/ Arleen D. Auerbach, Francis Lach, The Rockefeller University, New York, NY Reichardt http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&cmd=search&term=10898110 SRD5A2 - mutations in the steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) gene. Juergen Reichardt, University of Sydney, Sydney, Australia
Nick Makridakis, University of Southern California, Los Angeles, California