The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
Open accessAbstract
Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support research and education in human genomics and the practice of clinical genetics. Started by Dr Victor A. McKusick as the definitive reference Mendelian Inheritance in Man, OMIM (www.ncbi.nlm.nih.gov/omim) is now distributed electronically by the National Center for Biotechnology Information (NCBI), 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, approved gene nomenclature, and the highly detailed mapviewer, as well as patient support groups and many others. OMIM is an easy and straightforward portal to the burgeoning information in human genetics.
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“perusal of the Online Mendelian Inheritance in Man (OMIM) database provides examples of near-Mendelian cases of many relatively common disorders42.”
From Rare and common variants: twenty arguments (2012) · cites this paper as [42]
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Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders
McKusick, V. A. (1998) · DigitalGeorgetown (Georgetown University Library) · Cited by 681
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Human Gene Mutation Database (HGMD®): 2003 update
Stenson, P., Ball, E. V., Mort, M., Phillips, A. D., Shiel, J. A., Thomas, N., Abeysinghe, S. S., Krawczak, M., & Cooper, D. (2003) · Human Mutation · doi:10.1002/humu.10212 · Cited by 1,887
Rouillard, A. D., Gundersen, G. W., Fernandez, N. F., Wang, Z., Monteiro, C. D., McDermott, M. G., & Ma’ayan, A. (2016) · Database · doi:10.1093/database/baw100 · Cited by 1,515
Rare and common variants: twenty arguments
Gibson, G. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3118 · Cited by 1,278
Walking the Interactome for Prioritization of Candidate Disease Genes
Köhler, S., Bauer, S., Horn, D., & Robinson, P. N. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.02.013 · Cited by 1,268
Network Pharmacology Databases for Traditional Chinese Medicine: Review and Assessment
Zhang, R., Zhu, X. H., Bai, H., & Ning, K. (2019) · Frontiers in Pharmacology · doi:10.3389/fphar.2019.00123 · Cited by 1,293
Metadata
- Authors
- Hamosh, A.
- Affiliations
- Johns Hopkins University (US)
- Corresponding author
- Hamosh, A.
- ORCID
- Hamosh, A.
- Venue
- Nucleic Acids Research
- Publisher
- Oxford University Press (OUP)
- Published
- 2002-01-01
- Volume
- 30
- Issue
- 1
- Pages
- 52-55
- ISSN
- 0305-1048 (ISSN-L)
- 1362-4962
- PMC
- PMC99152
- OpenAlex
- W4248234957
- Cited by
- 762
- References
- 1
- Citations by year
- 2026: 12 · 2025: 20 · 2024: 34 · 2023: 38 · 2022: 43 · 2021: 37 · 2020: 54 · 2019: 46 · 2018: 34 · 2017: 31 · 2016: 19 · 2015: 22 · 2014: 24 · 2013: 25 · 2012: 29
- FWCI
- 23.41
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Nucleic Acids Research (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Health Sciences › Medicine › Health Informatics › Biomedical Text Mining and Ontologies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- OMIM, genetic disorders, human genes, Mendelian inheritance, human genomics, medical genetics, gene nomenclature, mutation database, genetic databases
- MeSH terms
- Chromosome Mapping, Forecasting, Genes, Humans, Information Storage and Retrieval, Internet, Genetic Diseases, Inborn, Databases, Genetic
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