The Online Mendelian Inheritance in Man (OMIM) is a powerful, com

The Online Mendelian Inheritance in Man (OMIM) is a powerful, comprehensive, and widely used database for collecting molecular relations between genetic variations and phenotypes. OMIM contains information of all known Mendelian selleck screening library disorders and their associated genes. Updated to October 23, 2012, OMIM has collected 21,458 entries of possible links between 4,753 phenotypes and over 12,000 genes, and 2,883 genes with phenotype-causing mutations.The Human Gene Mutation Database (HGMD) records all germ-line disease-causing mutations and deleterious polymorphisms published in the literature. HGMD provides two versions of databases, one is for academic or nonprofit users, and the other is for professional usage. Updated to March 2012, the total mutation data collected in HGMD nonprofit version is 92,715, while the total mutation data in HGMD Professional version is 130,522.

The UniPROT/SWISS-PROT database is a high quality, manually curated, comprehensive protein sequence database, integrating information from the scientific literature and computational analysis. SWISS-PROT provides convincing protein sequences and annotations, such as protein function descriptions and domain structures. Updated to September 2012, UniProtKB/Swiss-Prot contains 538,010 sequence entries and 190,998,508 amino acids abstracted from 213,490 documents, including more than 67,000 nsSNPs.The Human Genome Variation database (HGVbase) is an accurate, high-quality, and nonredundant database for comprehensive catalog of normal human gene and genome variation, especially SNPs.

HGVbase provides both neutral polymorphisms and disease-related mutations. Updated to July 2005 (released 16.0), HGVbase contains 8,924,237 entries, including more than 20,000 coding SNPs and about 11,000 nsSNPs.The single-nucleotide polymorphism database (dbSNP) is a comprehensive repository for single-nucleotide substitutions, short deletion, and insertion polymorphisms. Data in dbSNP can be combined with other available NCBI genomic data and freely downloaded in a variety of forms. Updated to February 2010, dbSNP has collected over 184 million submissions representing more than 64 million distinct variants for 55 organisms, including more than 70,000 SNPs.The Protein Mutant Database (PMD) [16] is a literature-based database for protein mutants, providing information of amino acid mutations at specific positions of proteins and the structural alterations. Each entry in the database corresponds to one article which may describe one or several protein mutants. Updated to 26 Mar 2007, PMD collects 45,239 entries and 218,873 mutants, Dacomitinib including 54,975 nsSNPs occurring in 4,675 proteins.

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