Chapter: 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | App 1 | App 2
| Website | URL |
|---|---|
| National Center for Health Statistics | http://www.cdc.gov/nchs/ |
| The Global Burden of Disease report | http://www.who.int/msa/mnh/ems/dalys/intro.htm |
| The ICD classification system | http://www.genome.ad.jp/dbget-bin/get_htext?ICD9 |
| The WHO ICD web site | http://www.who.int/whosis/icd10/index.html |
| The Office of Rare Diseases at the NIH | http://ord.aspensys.com/asp/diseases/diseases.asp |
| The MeSH system at NLM | http://www.nlm.nih.gov/mesh/meshhome.html |
| OMIM | http://www.ncbi.nlm.nih.gov/omim/ |
| OMIM statistics | http://www.ncbi.nlm.nih.gov/entrez/Omim/mimstats.html |
| The TIGR Eukaryotic Gene Ortholog (EGO) database | http://www.tigr.org/tdb/tgi/ego/index.shtml |
| GeneCards | http://bioinfo.weizmann.ac.il/cards/ |
| HGMD | http://archive.uwcm.ac.uk/uwcm/mg/hgmd0.html |
| The Universal Mutation Database template | http://www.umd.necker.fr/ |
| HGVS | http://ariel.ucs.unimelb.edu.au:80/~cotton/mdi.htm |
| HGVS from EMBL-EBI | http://www2.ebi.ac.uk/mutations/cotton/ |
| RettBASE at IRSA | http://mecp2.chw.edu.au/ |
| An overview of SNPs | http://www.ncbi.nlm.nih.gov/SNP/get_html.cgi?whichHtml=overview |
| dbSNP statistics | http://www.ncbi.nlm.nih.gov/SNP/snp_summary.cgi |
| dbSNP BLAST server | http://www.ncbi.nlm.nih.gov/SNP/snpblastByChr.html |
| Online Mendelian Inheritance in Animals (OMIA) | http://www.angis.org.au/Databases/BIRX/omia/ |
| Homophila | http://homophila.sdsc.edu/ |
| Mouse Models for Human Disease: Mouse/Human Gene Homologs | http://jaxmice.jax.org/jaxmicedb/html/sbmodel_974.shtml |
| The FANTOM2 database | http://fantom2.gsc.riken.go.jp/supplement/disease_genes/ |
| The Dysmorphic Human-Mouse Homology Database (DHMHD) | http://www.hgmp.mrc.ac.uk/DHMHD/dysmorph.html |
| Transgenic mouse database | http://www.rodentia.com/wmc/domain_genome.html#transgenics |
| The Whole Mouse Catalog | http://www.rodentia.com/wmc/domain_mouse.html |
Table 18-1. Web resources for sickle cell disease
| Resource |
|---|
| NIH fact sheet |
| Genes and Disease (NCBI) |
| Sickle Cell Disease Association of America |
Table 18-8. Central mutation databases available on the world wide web.
| Site | Description |
|---|---|
| GeneCards | At the Weizmann Institute |
| HUGO Mutation Database Initiative | A large list of locus specific mutation databases |
| Human Gene Mutation Database | From the Institute of Medical Genetics in Cardiff |
| The Mammalian Gene Mutation Database (MGMD) | database of published mutagen induced gene mutations in mammalian tissues |
| Sequence Variation Database project (SVD) | At EBI |
Table 18-9. Gateways to locus-specific databases.
| Site | Description |
|---|---|
| GeneDis From Tel Aviv University | Performs pairwise alignments against a disease database |
| HUGO Mutation Database Initiative | A huge list of locus specific mutation databases |
| Human Gene Mutation Database | From the Institute of Medical Genetics in Cardiff |
| Universal Mutation Database | Software and databases for mutations in human genes, from INSERM |
| The Mammalian Gene Mutation Database (MGMD) | database of published mutagen induced gene mutations in mammalian tissues |
| Sequence Variation Database project (SVD) | At EMBL-EBI |
| Gene-Specific Mutation Databases | Engelhardt Institute of Molecular Biology (Russia) |
Table 18-10. SNP resources.
| Resource | Comment |
|---|---|
| dbSNP | At NCBI |
| Human SNP database | At the Whitehead Institute |
| The SNP Consortium (TSC) | A collaboration of industrial and academic labs |
Table 18-13. Web resources for the study of human disease at the systems level.
| Resource | Comment |
|---|---|
| LensGDDB | Human Lens Genetic Disease Database |
| Retina International | Four databases: protein, mutation, disease, and animal model |
| National Cardiovascular Disease Database | |
| Gastrointestinal Disease Database | |
| Muscular dystrophies | |
| MITOMAP | A human mitochondrial genome database |
| Peroxisome Website |
Table 18-21. General web resources for the study of human diseases.
| Site | Description |
|---|---|
| Diseases, Disorders and Related Topics | Karolinska Institute (Stockholm) |
| The Frequency of Inherited Disorders Database (FIDD) | From the Institute of Medical Genetics University of Wales College of Medicine |
| GeneCards | A database of human genes, their products and their involvement in diseases |
| Genes and Disease (NCBI) | Organized by chromosome, provides descriptions of 60 diseases |
| GeneClinics | A clinical information resource from the University of Washington, Seattle |
| Genetic Alliance | international coalition of individuals, professionals and genetic support organizations |
| The National Information Center for Children and Youth with Disabilities | |
| National Organization for Rare Disorders (NORD) | federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them |
| Online Mendelian Inheritance in Man (OMIM) | Over 12,000 entries |
Table 18-22. Web resources for the study of cancer.
| Resource | Description |
|---|---|
| ACOR | Association of Cancer Online Resources |
| Atlas of Genetics and Cytogenetics in Oncology and Haematology | |
| Cancer Chromosome Aberration Project | |
| The Cancer Gene Anatomy Project (CGAP) | At NCBI |
| The Cancer Genome Project | The Wellcome Trust Sanger Institute |
| CancerNet | At the National Cancer Institute (NIH) |
| CancerWEB | |
| Children's Cancer Web | |
| Mitelman Database of Chromosome Aberrations in Cancer | Relates chromosomal aberrations to tumor characteristics |
| Serial Analysis of Gene Expression (SAGE) | |
| OncoLink |