Scientists, enabled by the Human Genome Project, are churning out an unprecedented volume of data on human chromosomes and the tens of thousands of genes residing on them, many associated with genetic disorders. These data, and many Web sites on human genetic disorders, are freely accessible on the Internet.

Gene Gateway, originally designed as a Web companion to the popular Human Genome Landmarks poster, is a collection of guides and tutorials designed to help students and other novice users get started with some of the resources that make these data available to the public.

This Web site introduces various Internet tools that anyone can use to investigate genetic disorders, chromosomes, genome maps, genes, sequence data, genetic variants, and molecular structures.

Download The Gene Gateway Workbook
(PDF suitable for printing; PDF for faster download)
A collection of five activities with screenshots and step-by-step instructions designed to introduce new users to genetic disorder and bioinformatics resources on the Web. The workbook was last updated February 2011.

NOTE: Genetic disorder information furnished by resources described in this guide should not be used as a substitute for consultation with a physician. Questions or concerns regarding any medical condition should be discussed with a professional, such as a physician, genetic counselor, or medical geneticist. For more information on genetic health professionals, see the Human Genome Project Information page on Genetic Counseling and the Genetic Health Professionals section of the Genetic Disorder Guide.

Genetic Disorder Guide
Nontechnical resources on disorder descriptions and treatments, availability of gene tests or clinical trials, support groups, and other general material.

Sample Profiles of Genes and Genetic Disorders
Compilations of information generated for three genetic disorders using the web resources described above.

Chromosome Viewer
Learn about the physical makeup of human chromosomes and see some of the genes that have been found on each one.

• Home
• Chromosome FAQs
• How to evaluate medical information on the web
• Links
• Download PDF
• Genome Glossary
• Glossary of bioinformatics terms

Bioinformatics Tools

• Main page
• Using Online Mendelian Inheritance in Man (OMIM) to learn about genes and genetic disorders
• Finding a gene on a chromosome map
• Accessing gene and protein sequences
• Sequence-similarity searching
• Examining protein structures from Protein Data Bank
• Glossary of bioinformatics terms
• Genome Glossary

Chromosome Viewer
Learn about the physical makeup of human chromosomes and see some of the genes that have been found on each one.

• Chromosome Viewer (all chromosomes)
• Chromosome 1
• Chromosome 2
• Chromosome 3
• Chromosome 4
• Chromosome 5
• Chromosome 6
• Chromosome 7
• Chromosome 8
• Chromosome 9
• Chromosome 10
• Chromosome 11
• Chromosome 12
• Chromosome 13
• Chromosome 14
• Chromosome 15
• Chromosome 16
• Chromosome 17
• Chromosome 18
• Chromosome 19
• Chromosome 20
• Chromosome 21
• Chromosome 22
• Chromosome X
• Chromosome Y

Gene and Protein Database Guide

• Main page
• Molecular Biology Basics
• Learning about Genes and Their Products
• Nucleotide Sequence Databases
• Protein Sequence Databases
• Sequence Similarity Searching
• Gene-Mutation Resources
• Protein Structure Resources
• Sample Gene Profiles
  • CFTR - Cystic Fibrosis Gene
  • HFE - Hemochromatosis Gene
  • HBB - Sickle Cell Anemia Gene

• Main page
• Overviews of Genetic Disorders
• Gateways to Health-Related Web Resources
• Support Groups and Organizations for Genetic and Chromosomal Disorders
• Bibliographic Databases
• Locating Genetic Health Professionals
• Gene Tests and Testing Laboratories
• Clinical Trials Resources
• Sample Disorder Profiles
  • Cystic Fibrosis
  • Hereditary Hemochromatosis
  • Sickle Cell Anemia

Sample Profiles of Genes and Genetic Disorders

• Main page
  
• Sample Gene Profiles
  • CFTR - Cystic Fibrosis Gene
  • HFE - Hemochromatosis Gene
  • HBB - Sickle Cell Anemia Gene
    
• Sample Disorder Profiles
  • Cystic Fibrosis
  • Hereditary Hemochromatosis
  • Sickle Cell Anemia