OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

By Joanna S. Amberger, Carol A. Bocchini, F. Schiettecatte, Alan F. Scott, Ada Hamosh. 2014

2,478 citations recorded by the source corpus.

Online Mendelian Inheritance in Man, OMIM®, is a comprehensive, authoritative and timely research resource of curated descriptions of human genes and phenotypes and the relationships between them. The new official website for OMIM, OMIM.org (http://omim.org), was launched in January 2011. OMIM is based on the published peer-reviewed biomedical literature and is used by overlapping and diverse communities of clinicians, molecular biologists and genome scientists, as well as by students and teachers of these disciplines. Genes and phenotypes are described in separate entries and are given unique, stable six-digit identifiers (MIM numbers). OMIM entries have a structured free-text format that provides the flexibility necessary to describe the complex and nuanced relationships between genes and genetic phenotypes in an efficient manner. OMIM also has a derivative table of genes and genetic phenotypes, the Morbid Map. OMIM.org has enhanced search capabilities such as genome coordinate searching and thesaurus-enhanced search term options. Phenotypic series have been created to facilitate viewing genetic heterogeneity of phenotypes. Clinical synopsis features are enhanced with UMLS, Human Phenotype Ontology and Elements of Morphology terms and image links. All OMIM data are available for FTP download and through an API. MIMmatch is a novel outreach feature to disseminate updates and encourage collaboration.

Subfields: Genetics, Molecular Biology

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Citations in the corpus

Quantitative missense variant effect prediction using large-scale mutagenesis data (2017, positive): “, 2012), Online Mendelian Inheritance of Man (Amberger et al., 2015), and ClinVar (Landrum et al.”
WormBase 2016: expanding to enable helminth genomic research (2015, background): “We annotate C. elegans genes that have relevance to the study of human disease (42), curating descriptions of the association and forming connections to terms from the Disease Ontology (34) and to disease and gene records in the Online Mendelian Inheritance in Man (OMIM) (43).”
ClinVar: public archive of interpretations of clinically relevant variants (2015, neutral): “In its initial release (2013), ClinVar was largely seeded with records based on allelic variants described in OMIM R (cid:2) ; variants described in GeneReviews TM ; variants submitted with clinical information to dbSNP; and variants submitted by a small number of clinical testing laboratories.”
The UCSC Genome Browser database: 2017 update (2016, background): “The GRCh37/hg19 human assembly is currently the most comprehensively annotated with 21 major tracks, displaying data related to genetic phenotypes such as Online Mendelian Inheritance in Man (OMIM) allelic variants and positions of OMIM genes (21) as well as variants and copy number variants from th”
DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants (2016, background): “The Comparative Toxicogenomics Database (CTD) that provides information about chemicals and genes, and their effect in human health and disease (3) - UniProt, a repository centred on protein sequence and function, that also include disease annotations from OMIM, and from expert curation of the scien”
Settling the score: variant prioritization and Mendelian disease (2017, background): “Machine-readable phenotype descriptions, such as those produced using the online resources Phenotips 72 and PhenoDB 73 , use HPO and OMIM terminology to produce standardized phenotype descriptions.”
Network-based approach to prediction and population-based validation of in silico drug repurposing (2018, methodology): “For each CV event, we collected disease-associated genes from 8 commonly used data sources: The OMIM database (Online Mendelian Inheritance in Man) (66), The Comparative Toxicogenomics Database (67), HuGE Navigator (68), DisGeNET (69), ClinVar (70), GWAS Catalog (71), GWASdb (72), and PheWAS Catalog”
g:Profiler—a web server for functional interpretation of gene lists (2016 update) (2016, neutral): “Gene annotations of physiological and disease phenotypes from the HPO (2) and the Online Mendelian Inheritance in Man (OMIM) resource (8) allow users to interpret their gene lists in the context of human health.”