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yet</button><a id="jr-fip-next" class="wsprkl btn" title="Jump to next match">▶</a></nav></nav></div><div id="jr-epub-interstitial" class="hidden"></div><div id="jr-content"><article data-type="main"><div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><div class="fm-sec"><h1 id="_NBK1336_"><span class="title" itemprop="name">Appendix: About Genomic Databases Listed in <i>GeneReviews</i></span></h1><p class="fm-aai"><a href="#_NBK1336_pubdet_">Publication Details</a></p><p><em>Estimated reading time: 1 minute</em></p></div></div><div class="body-content whole_rhythm" itemprop="text"><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figapp1Td"><a href="/books/NBK1336/table/app1.Td/?report=objectonly" target="object" title="Table" class="img_link icnblk_img" rid-ob="figobapp1Td"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="app1.Td"><a href="/books/NBK1336/table/app1.Td/?report=objectonly" target="object" rid-ob="figobapp1Td">Table</a></h4></div></div><div id="bk_toc_contnr"></div></div></div><div class="fm-sec"><h2 id="_NBK1336_pubdet_">Publication Details</h2><h3>Publication History</h3><p class="small">Initial Posting: <span itemprop="datePublished">April 5, 2007</span>; Last Update: <span itemprop="dateModified">November 16, 2016</span>.</p><h3>Copyright</h3><div><div class="half_rhythm"><a href="/books/about/copyright/">Copyright</a> © 1993-2025, University of Washington, Seattle. GeneReviews is
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a registered trademark of the University of Washington, Seattle. All rights
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reserved.<p class="small">GeneReviews® chapters are owned by the University of Washington. Permission is
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hereby granted to reproduce, distribute, and translate copies of content materials for
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noncommercial research purposes only, provided that (i) credit for source (<a href="http://www.genereviews.org/" ref="pagearea=meta&targetsite=external&targetcat=link&targettype=uri">http://www.genereviews.org/</a>) and copyright (© 1993-2025 University of
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Washington) are included with each copy; (ii) a link to the original material is provided
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whenever the material is published elsewhere on the Web; and (iii) reproducers,
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distributors, and/or translators comply with the <a href="https://www.ncbi.nlm.nih.gov/books/n/gene/GRcopyright_permiss/" ref="pagearea=meta&targetsite=external&targetcat=link&targettype=uri">GeneReviews® Copyright Notice and Usage
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Disclaimer</a>. No further modifications are allowed. For clarity, excerpts
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of GeneReviews chapters for use in lab reports and clinic notes are a permitted
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use.</p><p class="small">For more information, see the <a href="https://www.ncbi.nlm.nih.gov/books/n/gene/GRcopyright_permiss/" ref="pagearea=meta&targetsite=external&targetcat=link&targettype=uri">GeneReviews® Copyright Notice and Usage
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Disclaimer</a>.</p><p class="small">For questions regarding permissions or whether a specified use is allowed,
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contact: <a href="mailto:dev@null" data-email="ude.wu@tssamda" class="oemail">ude.wu@tssamda</a>.</p></div></div><h3>Publisher</h3><p><a href="http://www.washington.edu" ref="pagearea=page-banner&targetsite=external&targetcat=link&targettype=publisher">University of Washington, Seattle</a>, Seattle (WA)</p><h3>NLM Citation</h3><p>Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Appendix: About Genomic Databases Listed in GeneReviews. 2007 Apr 5 [Updated 2016 Nov 16].<span class="bk_cite_avail"></span></p></div><div class="small-screen-prev"><a href="/books/n/gene/GRcopyright_permiss/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M75,30 c-80,60 -80,0 0,60 c-30,-60 -30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Prev</text></svg></a></div><div class="small-screen-next"><a href="/books/n/gene/app2/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M25,30c80,60 80,0 0,60 c30,-60 30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Next</text></svg></a></div></article><article data-type="table-wrap" id="figobapp1Td"><div id="app1.Td" class="table"><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1336/table/app1.Td/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__app1.Td_lrgtbl__"><table class="no_bottom_margin"><tbody><tr><td scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="https://www.hgvs.org/locus-specific-mutation-databases" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">LocusSpecific</a>
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</td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">The locus-specific databases included in <b><i>GeneReviews</i></b> are selected primarily from the <a href="https://www.hgvs.org/content/databases-tools" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Human Genome Variation Society database list</a>, developed by Richard Cotton and curated by Rania Horaitis, <a href="https://www.humanvariomeproject.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">The Human Variome Project</a>.</td></tr><tr><td scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="https://www.ncbi.nlm.nih.gov/gene" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Gene</a>
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</td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gene integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide. Gene is maintained at the <a href="https://www.ncbi.nlm.nih.gov" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">National Center for Biotechnology Information</a> (NCBI).</td></tr><tr><td scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="https://www.hgmd.cf.ac.uk/ac/index.php" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">HGMD</a>
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</td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">The <a href="https://www.hgmd.cf.ac.uk/ac/index.php" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Human Gene Mutation Database</a> (HGMD) comprises information on known gene variants responsible for human genetic disease. Note: HGMD requires registration.</td></tr><tr><td scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">ClinVar</a>
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</td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">ClinVar aggregates information and supporting evidence about genomic variation and its relationship to human health. The database is maintained at the <a href="https://www.ncbi.nlm.nih.gov" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">National Center for Biotechnology Information</a> (NCBI).</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">Note: Currency of information varies among databases. <i>GeneReviews</i> does not assume responsibility for information provided by the genomic databases listed.</p></div></dd></dl></dl></div></div></div></article></div><div id="jr-scripts"><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/libs.min.js"> </script><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.min.js"> </script><script type="text/javascript">if (typeof (jQuery) != 'undefined') { (function ($) { $(function () { var min = Math.ceil(1); var max = Math.floor(100000); var randomNum = Math.floor(Math.random() * (max - min)) + min; var surveyUrl = "/projects/Gene/portal/surveys/seqdbui-survey.js?rando=" + randomNum.toString(); $.getScript(surveyUrl, function () { try { ncbi.seqDbUISurvey.init(); } catch (err) { console.info(err); } }).fail(function (jqxhr, settings, exception) { console.info('Cannot load survey script', jqxhr); });; }); })(jQuery); };</script></div></div>
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