features a general description of the disorder adapted from government
publications accessible through MEDLINEplus, a gateway to health-related
resources provided by the National Institutes of Health (NIH).
Links to sites
for organizations and support groups; diagnostic or genetic testing
information; clinical trials; and other miscellaneous Web resources
for each genetic condition also are included.
includes the official symbol, the name and function of its protein
product, gene locus, and associated traits or disorders, which can
be obtained from the Online Mendelian Inheritance in Man (OMIM) and
NCBI LocusLink databases.
where the gene can be found on a chromosome were created using mapping
data available from NCBI Map Viewer.
Gene size and
sequence information were obtained from sequence records stored in
NCBI sequence databases and literature available on the Web or through
of common gene mutations are available from OMIM, Human Gene Mutation
Database, and other gene-specific mutation databases available on
references for protein structures from the Protein Data Bank were
used to examine the structure of each gene's protein product.