Table 10. Human Mutations and Disease Databases
Name Web site Comments
Human disease databases
OMIM http://www.ncbi.nlm.nih.gov/omim/ Catalog of genetic disease loci (>15,000 annotated loci)
Mitelman http://cgap.nci.nih.gov/Chromosomes/Mitelman Clinical records (>45,000) of recurrent chr. aberrations in cancers
Human mutation and SNP databases
The SNP       Consortium http://snp.cshl.org/ High-quality SNPs distributed evenly throughout the human genome
SNP database    (dbSNP) http://www.ncbi.nlm.nih.gov/SNP/ A central repository for both single base nucleotide subsitutions and short deletion and insertion polymorphisms
Human Genome Variation Database    http://hgvbase.cgb.ki.se/ Facilitate genotype-phenotype association. Variations are presented with details of how they are physically and functionally related to the closest neighbouring gene
Protein Mutation Database (PMD) http://www.genome.ad.jp/htbin/www_bfind?pmd Based on literature (not on proteins). Each entry of the database corresponds to one article which describes protein mutations
The Human Gene Mutation Database http://archive.uwcm.ac.uk/uwcm/mg/hgmd0.html Comprehensive reference source to the spectrum of mutations underlying human genetic disease
Animal models
Mouse knockouts http://research.bmn.com/mkmd
OMIA http://www.angis.org.au/Databases/BIRX/omia/ Online Mendelian Inheritance in Animals