Links to other important databases

General Databases

  1. Human Gene Mutation Database (HGMD)
  2. Human Genome Variation Society (HGVS)
  3. Leiden Open Variation Database (LOVD)
  4. Locus Referece Genomic (LRG)
  5. OMIM
  6. NCBI dbSNP
  7. Pub Med
  8. HapMap Database
  9. National Human Genome Research Institute
  10. Office of Rare Diseases (National Institutes of Health)
  11. Centre for Arab genomic studies
  12. OrphaNet (information on rare diseases and orphan drugs)
  13. Pasteur Institute of Iran
  14. Public Health Genetics Unit (The Cambridge Genetics Knowledge Park)

Disease and Mutation Databases

  1. Eye Diseases - Ornithine aminotransferase (OAT) mutation database
  2. AIREbase - Mutation registries for APECED
  3. Autoimmune regulator (AIRE) mutation database
  4. NCL Resource - A gateway for Batten disease
  5. Retinal and hearing impairment genetic mutation database for Choroideremia (Rab escort protein 1) (CHM)
  6. Retinal and hearing impairment genetic mutation database for Clarin 1 (CLRN1)
  7. Usher syndrome databases
  8. Finnish Genetic Mutation database
  9. X-linked Retinoschisis sequence variation database

Population Databases

  1. The Catalogue for Transmission Genetics in Arabs (CTGA) Database
  2. Mutation Database of Turkish Population
  3. Israeli Populations Database
  4. Amish, Mennonite, and Hutterite Genetic Disorders Database
  5. Japanese single nucleotide polymorphism database
  6. Office of Rare Diseases (National Institutes of Health)
  7. Pasteur Institute of Iran
  8. Public Health Genetics Unit (The Cambridge Genetics Knowledge Park)

Tools

  1. Mutalyzer
  2. NCBI Variation Reporter
  3. Cafe Variome