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Databases and Maps
Health: Conditions and Diseases: Genetic Disorders
ADAbase: Mutation registry for Adenosine Deaminase Deficiency
- Features an introduction, submissions, publications, and an immunodeficiency resource. Includes a gene atlas for the ADA gene.
- Provide up-to-date information about genetic variation of the adenylosuccinate lyase gene. Includes cDNA sequence and gene structure.
Institute of Medical Genetics in Cardiff
- Database of human gene mutation data . Features publications, newly added genes, and locus specific databases.
- Public initiative to annotate genomic variants with data that assists in functional annotation. Offers tools to help determine which mutations are the most likely to be the underlying causative agents of disease.
The p53 Web Site
- Features current work, a mutations analysis, and anatomy of the gene. Provided by the Institut Curie.
RettBASE : MECP2
- Searchable database of known and novel MECP2 disease-causing mutations and polymorphisms. From the International Rett Syndrome Association.
The Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
- Provide information about genetic variation of the alpl gene responsible for hypophosphatasia. Includes a downloadable list of genotypes and mutations .
X-linked Adrenoleukodystrophy Database
- Catalogue and facilitate the analysis of X-ALD mutations and provide background information. Includes the structure of the ABCD1 gene and its gene sequence.
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