Learn to use Online Mendelian Inheritance in Man, or OMIM, a catalog of human genes and genetic conditions. OMIM is a foundational resource in genomics and is valuable for clinicians and biomedical researchers. OMIM links and data are found at sites all around the bioinformatics sphere, but understanding the full scope of OMIM's data and resources enable the most comprehensive understanding of human phenotypes and disease. OMIM contains full-text summaries of information from the scientific literature, and provides extensive links to the literature resources and other genomic resource tools as well. Use OMIM as a comprehensive first stop to find important information and gene links for human Mendelian disorders.
You will learn:
This tutorial is a part of the tutorial group Human variations. You might find the other tutorials in the group interesting:
GAD: Genetic Association Database: An archived database associating human genes and polymorphisms with diseases
Madeline 2.0: Human pedigree diagram tools
DrugBank: A chemoinformatics and bioinformatics resource
DGV: Database of Genomic Variants: Database of Genomic Variants, DGV, catalogs and displays structural variation in the human genome
CGAP: Characterize the molecular genetic changes that cause a normal cell to become a cancer cell
ENCODE Foundations: ENCyclopedia of DNA Elements
GeneSNPs: An integrated view of gene structure and SNP variations
NIEHS SNPs: National Institute for Environmental Health Sciences Environmental Genome Project (EGP) SNPs
HapMap: HapMap, a database and analysis resource of human variation
Genetics Home Reference: A collection of data describing the effects of genetic variability on human health and disease
dbGaP: A database of genotypes and phenotypes with extensive variation data and clinical details
SeattleSNPs: Human SNPs in genes
dbSNP: NCBI's SNP database
GeneTests: GeneTests, a current, comprehensive genetic testing resource
Variation & Medical : Resources that include information about sequence variation, phenotypes, or medically-relevant conditions.
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Recent BioMed Central research articles citing this resource
Tian Qi et al., A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family Clinical-Molecular Genetics and Cytogenetics. BMC Medical Genetics (2017) doi:10.1186/s12881-016-0360-9
Mauhin Wladimir et al., Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood Inherited metabolic diseases. Orphanet Journal of Rare Diseases (2017) doi:10.1186/s13023-016-0550-8
Spada Marco et al., Metabolic progression to clinical phenotype in classic Fabry disease. Italian Journal of Pediatrics (2017) doi:10.1186/s13052-016-0320-1
Blanco-Kelly Fiona et al., New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report Clinical-Molecular Genetics and Cytogenetics. BMC Medical Genetics (2017) doi:10.1186/s12881-016-0364-5
Zhang Qing-Hui et al., Association of the SPTLC3 rs364585 polymorphism and serum lipid profiles in two Chinese ethnic groups. Lipids in Health and Disease (2017) doi:10.1186/s12944-016-0392-3