Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

By Ada Hamosh, Alan F. Scott, Joanna S. Amberger, Carol A. Bocchini, Victor A. McKusick. 2004

3,380 citations recorded by the source corpus.

Online Mendelian Inheritance in Man (OMIM™) is a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support human genetics research and education and the practice of clinical genetics. Started by Dr Victor A. McKusick as the definitive reference Mendelian Inheritance in Man, OMIM (http://www.ncbi.nlm.nih.gov/omim/) is now distributed electronically by the National Center for Biotechnology Information, where it is integrated with the Entrez suite of databases. Derived from the biomedical literature, OMIM is written and edited at Johns Hopkins University with input from scientists and physicians around the world. Each OMIM entry has a full-text summary of a genetically determined phenotype and/or gene and has numerous links to other genetic databases such as DNA and protein sequence, PubMed references, general and locus-specific mutation databases, HUGO nomenclature, MapViewer, GeneTests, patient support groups and many others. OMIM is an easy and straightforward portal to the burgeoning information in human genetics.

Subfields: Genetics, Molecular Biology

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Citations in the corpus

Better prediction of functional effects for sequence variants (2015, neutral): “We improved a little through the addition of the OMIM data, but possibly only so much so because the data had implicitly already been predicted correctly [17].”
Uncovering disease-disease relationships through the incomplete human interactome (2015, positive): “gov/omim) (48) and UniProtKB/SwissProt as compiled by (30) with GWAS data from the Phenotype-Genotype Integrator database (PheGenI; www.”
Visualization of genetic disease-phenotype similarities by multiple maps t-SNE with Laplacian regularization (2014, methodology): “Phenotype similarity was constructed by van Driels et al. [15] using the Online Mendelian Inheritance in Man (OMIM) database [16,17].”
Variation Interpretation Predictors: Principles, Types, Performance, and Choice (2016, background): “Centralvariation databases,suchastheHumanGeneMutationDatabase(HGMD) [Stensonetal.,2014],OnlineMendelianInheritanceinMan (OMIM)[Hamoshetal.,2005],andClinVar[Landrumetal.,2014], includevariantsformanyhumangenes(Table1).”
The Edinburgh human metabolic network reconstruction and its functional analysis (2007, background): “More than 10 000 human genes (half of the whole genome) have been reported to be related with one or more human diseases in the OMIM database (Hamosh et al , 2005).”
Studying protein^protein interaction networks: a systems view on diseases (2012, methodology): “Figure3shows the neighbourhood of a richly connected protein assigned to cancer, proto-oncogene tyrosine–protein kinase Src (UniprotID: P12931) in the OMIM database.”
The Mouse Genome Database (MGD): mouse biology and model systems (2007, background): “These orthology sets are organized in relationship to 3409 diseases as represented in OMIM (12).”
Rare and Common Variants: Twenty arguments (2011, background): “gov/omim">Online Mendelian Inheritance in Man (OMIM) database provides examples of near-Mendelian cases of many common disorder”
Walking the interactome for prioritization of candidate disease genes. (2008, methodology): “A total of 110 disease-gene families were deﬁned, on the basis of entries in the Online Mendelian Inheritance in Man (OMIM) data-base, 1 for genetically heterogeneous disorders in which mutations in distinct genes are associated with similar or even indistinguishable phenotypes; cancer syndromes…”
SOURCE: a unified genomic resource of functional annotations, ontologies, and gene expression data (2003, background): “These include Online Mendelian Inheritance in Man (OMIM) (1), SwissProt (2), LocusLink (3), UniGene (3), GenBank (4), PubMed (3), as well as many others.”
SMPDB: The Small Molecule Pathway Database (2009, background): “To check that the pathway illustrations (especially for metabolic and small molecule signaling pathways) were as correct and as comprehensive as possible, the SMPDB pathway artists and annotators were also required to consult a variety of sources including biochemistry textbooks, the Boerhinger–Manh”
PANTHER version 6: protein sequence and function evolution data with expanded representation of biological pathways (2006, background): “Most of these references are OMIM records (21) or review papers.”
Database resources of the National Center for Biotechnology Information (2006, neutral): “McKusick at The Johns Hopkins University (31,32).”
Biospider: A Web Server for Automating Metabolome Annotations (2006, background): “In other words MedMiner, MedGene and iHOP do not search, display, integrate or link to external molecular database information (i.e. GenBank, OMIM [8], PDB, SwissProt, PharmGKB [9], DrugBank [10], PubChem, etc.) or to other data on the web.”