McKusick's Online Mendelian Inheritance in Man (OMIM®)

By Joanna S. Amberger, Carol A. Bocchini, Alan F. Scott, Ada Hamosh. Nucleic Acids Res., 2008

740 citations recorded by the source corpus.

McKusick's Online Mendelian Inheritance in Man (OMIM®; http://www.ncbi.nlm.nih.gov/omim), a knowledgebase of human genes and phenotypes, was originally published as a book, Mendelian Inheritance in Man, in 1966. The content of OMIM is derived exclusively from the published biomedical literature and is updated daily. It currently contains 18 961 full-text entries describing phenotypes and genes. To date, 2239 genes have mutations causing disease, and 3770 diseases have a molecular basis. Approximately 70 new entries are added and 700 entries are updated per month. OMIM® is expanding content and organization in response to shifting biological paradigms and advancing biotechnology.

Subfields: Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/ad03182361fbf36aec2033491789b8ddb8170f39

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Citations in the corpus

Database resources of the National Center for Biotechnology Information (2014, methodology): “HomoloGene reports include homology and phenotype information drawn from Online Mendelian Inheritance in Man (OMIM) (33), Mouse Genome Informatics (MGI) (34), the Zebrafish Information Network (ZFIN) (35), the Saccharomyces Genome Database (SGD) (36) and FlyBase (37).”
KEGG for representation and analysis of molecular networks involving diseases and drugs (2009, background): “There are a number of disease databases available (5), but they are mostly descriptive databases for humans to read and understand.”
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data (2013, methodology): “At the time of this writing, we provide 110 301 annotations to 7354 diseases listed in the Online Mendelian Inheritance in Man [OMIM, (16)] database, Orphanet (17) and DECIPHER (18).”
An integrative approach to ortholog prediction for disease-focused and other functional studies (2011, methodology): “The information contained in OMIM has been extracted from publications and undergone manual curation [1-4].”
Entrez Gene: gene-centered information at NCBI (2010, background): “Similarly, users may select HomoloGene or ProteinClusters (8) links for integration of information about homologs, Map Viewer for extended genomic context and comparative maps, GENSAT, UniGene and GEO for expression data, Conserved Domain Database for domain content of proteins, OMIM (9) for human M”
RefSeq: an update on mammalian reference sequences (2013, background): “The RefSeqGene web site provides a report of the 5100 genes currently represented, along with names of related disorders and links to access more information in Gene, LRG, the Genetic Test Registry (GTR) (23) and Online Mendelian Inheritance in Man (OMIM) (24).”
Database resources of the National Center for Biotechnology Information (2011, methodology): “HomoloGene reports include homology and phenotype information drawn from Online Mendelian Inheritance in Man (OMIM) (26), Mouse Genome Informatics (MGI) (27), Zebrafish Information Network (ZFIN) (28), Saccharomyces Genome Database (SGD) (29), Clusters of Orthologous Groups (COG) (30) and FlyBase (3”
ALSoD: A user‐friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics (2012, background): “, OMIM [Amberger et al., 2011; Amberger et al., 2009], Genecards [Safran et al.]”
Database resources of the National Center for Biotechnology Information (2010, methodology): “McKusick and his staff at The Johns Hopkins University (29).”
The Human Phenotype Ontology (2010, methodology): “The differential diagnosis in clinical genetics can often be challenging (20, 28, 29), for which reason a number of commercial and freely available computational tools have been developed including the LDDB (15), POSSUM (16), OMIM (14), and Orphanet (17).”
Three-dimensional reconstruction of protein networks provides insight into human genetic disease (2012, methodology): “Finally, to compile a comprehensive list of disease-associated genes and their mutations, we combined information from both Online Mendelian Inheritance in Man (OMIM”
HINT: High-quality protein interactomes and their applications in understanding human disease (2012, methodology): “The mapping between human genes and diseases is obtained from OMIM [45] and HGMD [46].”
Network-Based Elucidation of Human Disease Similarities Reveals Common Functional Modules Enriched for Pluripotent Drug Targets (2010, methodology): “such as the Online Mendelian Inheritance in Man (OMIM) [5].”
Hive plots - rational approach to visualizing networks (2012, neutral): “disease [9], genome assembly [10, 11] and classifying”