About our References

For each human chromosome, this site provides a list of online resources such as genetic maps, associated genetic disorders, and research efforts. It is a service of the U.S. Department of Energy.

Go to Chromosome Launchpad

ClinicalTrials.gov provides patients, family members, healthcare professionals and members of the public easy access to information on clinical trials for a wide range of diseases and conditions. The site lists studies sponsored by the National Institutes of Health, other federal agencies, and the pharmaceutical industry. Most of the studies are conducted in the United States and Canada, but the database also includes locations in about 80 countries. The National Library of Medicine developed and continually updates this web site in collaboration with all the institutes at the National Institutes of Health and the Food and Drug Administration.

An entry for a specific trial provides the status of the study, that is, whether patient recruitment is ongoing or the study is completed. Each entry also provides the purpose of the study, criteria for patient participation and expected enrollment, and location of the trial with specific contact information.

Go to ClinicalTrials.gov

Ensembl organizes information about the DNA of humans and other animals that contribute to an understanding of human biology. Among its features, Ensembl provides technical information about the structure and location of known genes, including those associated with human genetic disorders. Ensembl is a joint project of the Sanger Institute and the European Bioinformatics Institute, which is part of the European Molecular Biology Laboratory. Ensembl is funded primarily by the Wellcome Trust.

Go to Ensembl

GeneCards offers information about thousands of human genes. It extracts and organizes information from more than 30 genetic databases and presents this material in a concise, technical format. The main features include a brief explanation of gene function, the cell types in which particular genes are active, similarities to genes from other organisms, and gene involvement in human disorders. GeneCards is a service of the Weizmann Institute of Science.

Go to GeneCards

GeneReviews is part of the GeneTests web site; it provides clinical summaries of hereditary disorders. Each review describes the disease characteristics, diagnosis and testing procedures, treatment and management options, and genetic counseling information. GeneReviews is an information resource for physicians and other healthcare providers, so the content is written in clinical and technical language. The web site is maintained by the University of Washington and Children's Health System, Seattle.

Go to GeneReviews

The Genes and Disease web site is produced by the National Center for Biotechnology Information. It provides one-page summaries of certain genetic disorders, highlighting their molecular basis. Each summary page provides links to gene sequence information, related literature, organizations that provide relevant fact sheets or support information, and the Online Mendelian Inheritance in Man (OMIM).

Go to Genes and Disease

The laboratory directory link within the GeneTests web site provides a list of U.S. and international laboratories that perform genetic testing for a particular gene. Information on how to contact the laboratory and the methodology used in testing are provided for each laboratory entry. When available, links to the laboratory's web site are provided. GeneTests is reviewed and updated by the University of Washington and Children's Health System, Seattle.

Go to GeneTests

HUGO is an international organization of scientists that promotes collaborative research efforts in the study of human genes and chromosomes. HUGO's human chromosome web pages provide links to research databases, chromosome maps, and resources for medical information.

Go to Human Genome Organization (HUGO)

Among its many activities, HUGO coordinates the HUGO Gene Nomenclature Committee (HGNC), which standardizes the names and symbols of genes. The discovery of a gene by more than one group of researchers often results in different names for the same gene. To prevent confusion, HGNC assigns official gene names and symbols. HGNC is funded by the U.S. National Institutes of Health and the U.K. Medical Research Council.

Go to HUGO Gene Nomenclature Committee (HGNC)

The web site name, "LocusLink," refers to the site's role in organizing or linking genetic locus information from several public databases. A genetic locus is the position of a gene on a chromosome. In addition to locus information, this site summarizes what is known about a particular gene, the function of its resulting protein, and any diseases associated with the gene. The site also reports any known similarities or homologies between the human gene and genes of other organisms such as the mouse or fruit fly. LocusLink is a service for researchers from the National Center for Biotechnology Information, part of the National Library of Medicine.

Go to LocusLink

Map Viewer is an interactive tool for the graphic display of technical information from many research databases. The site organizes and diagrams this information as genetic maps. Map Viewer displays maps of where genes are located on each human chromosome, shows genes that are related to genetic disorders, and allows researchers to analyze data from the Human Genome Project. In addition to human chromosome maps, Map Viewer provides genetic information for other organisms such as the mouse, rat, mosquito, and fruit fly. Map Viewer is a service of the National Center for Biotechnology Information, part of the National Library of Medicine.

Go to Map Viewer

MedlinePlus® provides health information for more than 580 diseases and conditions. The information, written for the general public, is assembled and continually updated by the National Library of Medicine. The web site also contains links to information on prescription and nonprescription drugs, health articles from the media, and medical encyclopedias and dictionaries.

While each entry varies slightly depending on what is known about the disease or condition, the following topics are typically included: information from the National Institutes of Health, a general overview of the condition, diagnosis and symptoms, disease management and treatment, prevention, ongoing research, and advocacy and support organizations.

Go to MedlinePlus

OMIM, which stands for Online Mendelian Inheritance in Man, is a catalog of human genes and genetic disorders. OMIM entries summarize the scientific literature on specific genetic disorders and genes, providing links to references and other resources of related information. The web site is designed for genetics professionals, not the general public, so the content is written in clinical and technical language. The Johns Hopkins University School of Medicine reviews and updates the OMIM database.

The format for OMIM entries varies depending on how much is known about the disorder or gene. The topics addressed in the entry are displayed in the left margin of each OMIM page. The OMIM report generally includes a description of the genetic disorder and an historical account of research developments. Additional topics may include inheritance patterns, clinical features, molecular genetics and data from animal studies.

While the OMIM database is open to the public, users seeking information about a medical or genetic condition are urged to consult with a qualified genetics professional for answers to personal questions.

Go to OMIM

PubMed® is a search system that allows users to access the MEDLINE® database of medical research literature. MEDLINE contains more than 12 million references from more than 4600 biomedical journals. The result of a search is a list of citations to journal articles and includes the authors; article title; journal name, volume and page numbers; and often an abstract. Citations are available for basic biomedical research and clinical sciences since 1966. MEDLINE also covers life sciences that are vital to biomedical practitioners, researchers and educators, including some aspects of biology, environmental science, marine biology, plant and animal science as well as biophysics and chemistry. PubMed is a service of the National Library of Medicine.

Go to PubMed

Genetics Home Reference obtains definitions from several sources.

• Unified Medical Language System at the National Library of Medicine
• Office of Rare Diseases at the National Institutes of Health
• Human Genome Project Information at the U.S. Department of Energy
• MedlinePlus at the National Library of Medicine
• GeneTests from the University of Washington and Children's Health System, Seattle
• Dictionary of Cancer Terms from the National Cancer Institute
• National Human Genome Research Institute at the National Institutes of Health