Table 1 General and locus specific databases studied
DatabaseAddressBroad featuresCurrency of information (as at 27 October 2006)
HGMDhttp://www.hgmd.orgCollects all mutations in all genes from public sourcesQuarterly release
OMIMhttp://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db = OMIMFirst and interesting mutations with references. Initially collected mutationsUpdated daily
GDBhttp://www.gdb.orgInitially collected mutations11 August 2005
GeneCardshttp://www.genecards.orgIntegrates fragments of information from specialised databases9 July 2006
Mutation Discoveryhttp://www.mutationdiscovery.comInitiated to collect DHPLC data25 August 2003
EBI Mutation Databasehttp://www.ebi.ac.ukNow defunctNA
Howdyhttp://howdy.jst.go.jpA system to retrieve human genome information from different public resourcesUpdated daily
HGVbasehttp://hgvbase.cgb.ki.sePhenotype/genotype database23 July 2003
dbSNPhttp://www.ncbi.nlm.nih.gov/projects/SNPCatalogue of SNPs18 May 2006
PAHhttp://www.pahdb.mcgill.caLocus specific database for PAH3 August 2006
Fanconi Anemiahttp://www.rockefeller.edu/fanconi/mutateLocus specific database for genes associated with Fanconi Anemia?