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:

  • ways to perform both simple and advanced searches
  • how to navigate and customize output displays to best serve your needs
  • methods to view OMIM data organized by either genes or disorders
  • where to find, and how to use additional features of the OMIM resource
TUTORIAL RELATED CONTENT

TUTORIALS

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

CATEGORIES

Variation & Medical : Resources that include information about sequence variation, phenotypes, or medically-relevant conditions.

BLOG POSTS

Friday SNPpets: This week's SNPpets illustrate that everyone's back in the saddle after the holidays with plenty of chatter. New and updated databases, tools, and other news abound. The financial threat to well known ...

Video Tip of the Week: PanelApp, from the 100000 Genomes Project: Genomics England is responsible for the 100,000 Genomes Project Last week I talked about the 100,000 Genomes Project in the UK. That video tip was an introduction and overview of the project. This wee...

Video Tip of the Week: Human Phenotype Ontology, HPO: Typically, our Tips-of-the-Week cover a specific software tool or feature that we think readers would maybe like to try out. But this week's tip is a bit different. It's got a conceptual piece that is ...

Friday SNPpets: This week's SNPpets include an interactive timeline of cancer research, NIH's statement on cloud-stored genomics data, Facebook and genomics data, hilarious typos in some published equations, and more....

Video Tip of the Week: PhosphoSitePlus, protein post-translational modifications : Nucleotide sequence data and analysis commands the bulk of my attention on most days. But certainly post-translational modification of proteins has a lot of influence on the ultimate function (or dysfu...

BIOMED CENTRAL

Recent BioMed Central research articles citing this resource

Vazquez-Alfageme Clara et al., X-Linked retinoschisis associated to a novel intragenic microdeletion: case report Clinical-Molecular Genetics and Cytogenetics. BMC Medical Genetics (2016) doi:10.1186/s12881-016-0270-x

Song Ailin et al., Network-based analysis of genetic variants associated with hippocampal volume in Alzheimer’s disease: a study of ADNI cohorts. BioData Mining (2016) doi:10.1186/s13040-016-0082-8

Ni Zhouli Julie et al., A transgenerational role of the germline nuclear RNAi pathway in repressing heat stress-induced transcriptional activation in C. elegans. Epigenetics Chromatin (2016) doi:10.1186/s13072-016-0052-x

Lévesque Sébastien et al., Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing Inherited metabolic diseases. Orphanet Journal of Rare Diseases (2016) doi:10.1186/s13023-016-0390-6

Gawron Katarzyna et al., Gingival fibromatosis: clinical, molecular and therapeutic issues Clinical genetics and genomics. Orphanet Journal of Rare Diseases (2016) doi:10.1186/s13023-016-0395-1