18
Sep
Learning more about genes associated with human diseases
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Chromosome Disorder Outreach is asked frequently how to learn more about the genes associated with human diseases involved in any chromosome disorder. Here is a brief primer on how to search for more information.
The Decipher Database is used mainly for information about which genes are located at a specific position. For example, you have to know the genes located on chromosome 10 between the positions 65314118 and 69041390. Decipher basically does not contain information about the function of these genes although may include patients having point mutations in these genes.
If you are interesting in any specific gene, type its symbol in GOOGLE (for example, MYH11) and you will see the scientific information about each gene in Gene Cards. If the given gene is known to cause any human disease you will be able to see additional (not so scientific) information about this gene through Genetic Home Reference (NIH).
If you want to know about publications regarding the effects of any gene type “Entrez Pubmed” and start your search using the gene’s symbol.
Iosif Lurie, M.D., Ph.D. Medical Geneticist CDO Medical Advisor
For additional help learning about the genes involved in any chromosome disorder please contact CDO’s Ask the Doctor program.
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