Table 10. Human Mutations and Disease Databases
Name Web site Comments
Human disease databases
OMIM Catalog of genetic disease loci (>15,000 annotated loci)
Mitelman Clinical records (>45,000) of recurrent chr. aberrations in cancers
Human mutation and SNP databases
The SNP       Consortium High-quality SNPs distributed evenly throughout the human genome
SNP database    (dbSNP) A central repository for both single base nucleotide subsitutions and short deletion and insertion polymorphisms
Human Genome Variation Database 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) Based on literature (not on proteins). Each entry of the database corresponds to one article which describes protein mutations
The Human Gene Mutation Database Comprehensive reference source to the spectrum of mutations underlying human genetic disease
Animal models
Mouse knockouts
OMIA Online Mendelian Inheritance in Animals