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<meta name="robots" content="NOINDEX,NOFOLLOW,NOARCHIVE" /><meta name="citation_inbook_title" content="GeneReviews® [Internet]" /><meta name="citation_title" content="Appendix: About Genomic Databases Listed in GeneReviews" /><meta name="citation_publisher" content="University of Washington, Seattle" /><meta name="citation_date" content="2016/11/16" /><meta name="citation_author" content="Margaret P Adam" /><meta name="citation_author" content="Jerry Feldman" /><meta name="citation_author" content="Ghayda M Mirzaa" /><meta name="citation_author" content="Roberta A Pagon" /><meta name="citation_author" content="Stephanie E Wallace" /><meta name="citation_author" content="Anne Amemiya" /><meta name="citation_fulltext_html_url" content="https://www.ncbi.nlm.nih.gov/books/NBK1336/" /><link rel="schema.DC" href="http://purl.org/DC/elements/1.0/" /><meta name="DC.Title" content="Appendix: About Genomic Databases Listed in GeneReviews" /><meta name="DC.Type" content="Text" /><meta name="DC.Publisher" content="University of Washington, Seattle" /><meta name="DC.Contributor" content="Margaret P Adam" /><meta name="DC.Contributor" content="Jerry Feldman" /><meta name="DC.Contributor" content="Ghayda M Mirzaa" /><meta name="DC.Contributor" content="Roberta A Pagon" /><meta name="DC.Contributor" content="Stephanie E Wallace" /><meta name="DC.Contributor" content="Anne Amemiya" /><meta name="DC.Date" content="2016/11/16" /><meta name="DC.Identifier" content="https://www.ncbi.nlm.nih.gov/books/NBK1336/" /><meta name="og:title" content="Appendix: About Genomic Databases Listed in GeneReviews" /><meta name="og:type" content="book" /><meta name="og:url" content="https://www.ncbi.nlm.nih.gov/books/NBK1336/" /><meta name="og:site_name" content="NCBI Bookshelf" /><meta name="og:image" content="https://www.ncbi.nlm.nih.gov/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gene-lrg.png" /><meta name="twitter:card" content="summary" /><meta name="twitter:site" content="@ncbibooks" /><meta name="bk-non-canon-loc" content="/books/n/gene/app1/" /><link rel="canonical" href="https://www.ncbi.nlm.nih.gov/books/NBK1336/" /><link rel="stylesheet" href="/corehtml/pmc/css/figpopup.css" type="text/css" media="screen" /><link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books.min.css" type="text/css" /><link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books_print.min.css" type="text/css" /><style type="text/css">p a.figpopup{display:inline !important} .bk_tt {font-family: monospace} .first-line-outdent .bk_ref {display: inline} </style><script type="text/javascript" src="/corehtml/pmc/js/jquery.hoverIntent.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/common.min.js?_=3.18"> </script><script type="text/javascript">window.name="mainwindow";</script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/book-toc.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/books.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>
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<div class="pre-content"><div><div class="bk_prnt"><p class="small">NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.</p><p>Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. </p></div></div></div>
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<div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><h1 id="_NBK1336_"><span class="title" itemprop="name">Appendix: About Genomic Databases Listed in <i>GeneReviews</i></span></h1><p class="small">Initial Posting: <span itemprop="datePublished">April 5, 2007</span>; Last Update: <span itemprop="dateModified">November 16, 2016</span>.</p><p><em>Estimated reading time: 1 minute</em></p></div><div class="body-content whole_rhythm" itemprop="text"><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><div><dl class="temp-labeled-list small"><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></div></div></div><div id="bk_toc_contnr"></div></div></div>
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<div class="post-content"><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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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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contact: <a href="mailto:dev@null" data-email="ude.wu@tssamda" class="oemail">ude.wu@tssamda</a>.</p></div><div class="small"><span class="label">Bookshelf ID: NBK1336</span></div><div style="margin-top:2em" class="bk_noprnt"><a class="bk_cntns" href="/books/n/gene/">GeneReviews by Title</a><div class="pagination bk_noprnt"><a class="active page_link prev" href="/books/n/gene/GRcopyright_permiss/" title="Previous page in this title">< Prev</a><a class="active page_link next" href="/books/n/gene/app2/" title="Next page in this title">Next ></a></div></div></div></div>
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