The status of online Mendelian inheritance in man (OMIM) medio 1994

Abstract

During the last year many changes have been introduced into the system of maintaining OMIM. There are three major components of the reorganization. First, a distributed editorial system was introduced which provides a three-tiered editorial board with senior editors, science writers and subject editors. Second, MIM entries have been restructured to provide separate gene and phenotype information and to organize them into separate catalogs. The restructuring also establishes clearly defined sections for entering new information, converts old entries to the new structure, and establishes a file maintenance and editorial system in SGML format. Third, the entry numbering and naming system has been modified. In addition, the information has been made available through a variety of output media, including books, CD-ROM and online access based on the IRx, WAIS, Gopher and WWW formats.

GPCR NaVa database: natural variants in human G protein-coupled receptors

“…Where available, we also stored start and end positions of exons and directions of mRNA on contig sequences. From the corresponding receptor entries, data on small variants at the gene and/or protein level were extracted from dbSNP [Sherry et al, 1999], OMIM [Pearson et al, 1994], HGMD [Cooper et al, 1998], UniProt/SwissProt [Yip et al, 2004], and tGRAP [Edvardsen et al, 2002]. Available disease associations were retrieved.…”

“…Hundreds of rare variants in GPCRs are directly responsible for monogenic diseases [Cooper et al, 1998;Pearson et al, 1994] and they have been the subject of several thorough reviews [Schöneberg et al, 2004;Tao, 2006]. GPCRs and corresponding diseases that have been incorporated in locus-specific websites are summarized in Table 1.…”

“…Apart from the highly detailed locus-specific databases on GPCR variants that are reported in Table 1 [Fuhrer et al, 2003;Oetting, 2002;Pidasheva et al, 2004], the variety of online sources is evident from general databases that contain subsets of variants. Individual general databases contain rare disease-causing mutations [Cooper et al, 1998;Pearson et al, 1994], small genetic variants [HapMap Consortium, 2003;Sherry et al, 1999], CNVs [Iafrate et al, 2004], and other selections of variants [Yip et al, 2004]. An additional wealth of data on natural variants is reported in the scientific literature and patents, but these data are not easily captured in a database.…”

Internet Biomolecular Resources

“…OMIM provides a catalog of human genes and genetic disorders and represents the electronic form of Victor McKusicks's Mendelian Inheritance in Man (7,8). It contains a wealth of information on human genetic traits and inheritance patterns.…”

Explaining the Familial Colorectal Cancer Risk Associated with Mismatch Repair (MMR)-Deficient and MMR-Stable Tumors

“…Germ-line mutations in APC, SMAD4, ALK3, STK11/LKB1, MYH, and the mismatch repair (MMR) genes have all been shown to be predispose to syndromic forms of colorectal cancer: familial adenomatous polyposis (FAP; Mendelian inheritance in man 175100), 5 juvenile polyposis (Mendelian inheritance in man 174900), Peutz-Jeghers syndromes (Mendelian inheritance in man 175200), recessive polyposis (MYH; Mendelian inheritance in man 608456), and hereditary nonpolyposis colorectal cancer (HNPCC; Mendelian inheritance in man 120435-6), respectively (5). Aside from the substantive risk associated with HNPCC (6, 7), germ-line mutations in the MMR genes are thought to contribute significantly to the overall burden of colorectal cancer (8).…”