11359 lines
572 KiB
Text
11359 lines
572 KiB
Text
|
|
|
|
|
|
|
|
|
|
<!DOCTYPE html>
|
|
<html xmlns="http://www.w3.org/1999/xhtml" lang="en-us" xml:lang="en-us" >
|
|
|
|
<head>
|
|
|
|
|
|
|
|
<!--
|
|
################################# CRAWLER WARNING #################################
|
|
|
|
- The terms of service and the robots.txt file disallows crawling of this site,
|
|
please see https://omim.org/help/agreement for more information.
|
|
|
|
- A number of data files are available for download at https://omim.org/downloads.
|
|
|
|
- We have an API which you can learn about at https://omim.org/help/api and register
|
|
for at https://omim.org/api, this provides access to the data in JSON & XML formats.
|
|
|
|
- You should feel free to contact us at https://omim.org/contact to figure out the best
|
|
approach to getting the data you need for your work.
|
|
|
|
- WE WILL AUTOMATICALLY BLOCK YOUR IP ADDRESS IF YOU CRAWL THIS SITE.
|
|
|
|
- WE WILL ALSO AUTOMATICALLY BLOCK SUB-DOMAINS AND ADDRESS RANGES IMPLICATED IN
|
|
DISTRIBUTED CRAWLS OF THIS SITE.
|
|
|
|
################################# CRAWLER WARNING #################################
|
|
-->
|
|
|
|
|
|
|
|
<meta http-equiv="content-type" content="text/html; charset=utf-8" />
|
|
<meta http-equiv="cache-control" content="no-cache" />
|
|
<meta http-equiv="pragma" content="no-cache" />
|
|
<meta name="robots" content="index, follow" />
|
|
|
|
|
|
<meta name="viewport" content="width=device-width, initial-scale=1" />
|
|
<meta http-equiv="X-UA-Compatible" content="IE=edge" />
|
|
|
|
|
|
<meta name="title" content="Online Mendelian Inheritance in Man (OMIM)" />
|
|
<meta name="description" content="Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative
|
|
compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text,
|
|
referenced overviews in OMIM contain information on all known mendelian disorders and over 15,000 genes.
|
|
OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries
|
|
contain copious links to other genetics resources." />
|
|
<meta name="keywords" content="Mendelian Inheritance in Man, OMIM, Mendelian diseases, Mendelian disorders, genetic diseases,
|
|
genetic disorders, genetic disorders in humans, genetic phenotypes, phenotype and genotype, disease models, alleles,
|
|
genes, dna, genetics, dna testing, gene testing, clinical synopsis, medical genetics" />
|
|
<meta name="theme-color" content="#333333" />
|
|
<link rel="icon" href="/static/omim/favicon.png" />
|
|
<link rel="apple-touch-icon" href="/static/omim/favicon.png" />
|
|
<link rel="manifest" href="/static/omim/manifest.json" />
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script id='mimBrowserCapability'>
|
|
function _0x5069(){const _0x4b1387=['91sZIeLc','mimBrowserCapability','15627zshTnf','710004yxXedd','34LxqNYj','match','disconnect','1755955rnzTod','observe','1206216ZRfBWB','575728fqgsYy','webdriver','documentElement','close','open','3086704utbakv','7984143PpiTpt'];_0x5069=function(){return _0x4b1387;};return _0x5069();}function _0xe429(_0x472ead,_0x43eb70){const _0x506916=_0x5069();return _0xe429=function(_0xe42949,_0x1aaefc){_0xe42949=_0xe42949-0x1a9;let _0xe6add8=_0x506916[_0xe42949];return _0xe6add8;},_0xe429(_0x472ead,_0x43eb70);}(function(_0x337daa,_0x401915){const _0x293f03=_0xe429,_0x5811dd=_0x337daa();while(!![]){try{const _0x3dc3a3=parseInt(_0x293f03(0x1b4))/0x1*(-parseInt(_0x293f03(0x1b6))/0x2)+parseInt(_0x293f03(0x1b5))/0x3+parseInt(_0x293f03(0x1b0))/0x4+-parseInt(_0x293f03(0x1b9))/0x5+parseInt(_0x293f03(0x1aa))/0x6+-parseInt(_0x293f03(0x1b2))/0x7*(parseInt(_0x293f03(0x1ab))/0x8)+parseInt(_0x293f03(0x1b1))/0x9;if(_0x3dc3a3===_0x401915)break;else _0x5811dd['push'](_0x5811dd['shift']());}catch(_0x4dd27b){_0x5811dd['push'](_0x5811dd['shift']());}}}(_0x5069,0x84d63),(function(){const _0x9e4c5f=_0xe429,_0x363a26=new MutationObserver(function(){const _0x458b09=_0xe429;if(document!==null){let _0x2f0621=![];navigator[_0x458b09(0x1ac)]!==![]&&(_0x2f0621=!![]);for(const _0x427dda in window){_0x427dda[_0x458b09(0x1b7)](/cdc_[a-z0-9]/ig)&&(_0x2f0621=!![]);}_0x2f0621===!![]?document[_0x458b09(0x1af)]()[_0x458b09(0x1ae)]():(_0x363a26[_0x458b09(0x1b8)](),document['getElementById'](_0x458b09(0x1b3))['remove']());}});_0x363a26[_0x9e4c5f(0x1a9)](document[_0x9e4c5f(0x1ad)],{'childList':!![]});}()));
|
|
</script>
|
|
|
|
|
|
|
|
<link rel='preconnect' href='https://cdn.jsdelivr.net' />
|
|
<link rel='preconnect' href='https://cdnjs.cloudflare.com' />
|
|
|
|
<link rel="preconnect" href="https://www.googletagmanager.com" />
|
|
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery@3.7.1/dist/jquery.min.js" integrity="sha256-/JqT3SQfawRcv/BIHPThkBvs0OEvtFFmqPF/lYI/Cxo=" crossorigin="anonymous"></script>
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery-migrate@3.5.2/dist/jquery-migrate.js" integrity="sha256-ThFcNr/v1xKVt5cmolJIauUHvtXFOwwqiTP7IbgP8EU=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/js/bootstrap.min.js" integrity="sha256-nuL8/2cJ5NDSSwnKD8VqreErSWHtnEP9E7AySL+1ev4=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap.min.css" integrity="sha256-bZLfwXAP04zRMK2BjiO8iu9pf4FbLqX6zitd+tIvLhE=" crossorigin="anonymous">
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap-theme.min.css" integrity="sha256-8uHMIn1ru0GS5KO+zf7Zccf8Uw12IA5DrdEcmMuWLFM=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/moment@2.29.4/min/moment.min.js" integrity="sha256-80OqMZoXo/w3LuatWvSCub9qKYyyJlK0qnUCYEghBx8=" crossorigin="anonymous"></script>
|
|
<script src="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/js/bootstrap-datetimepicker.min.js" integrity="sha256-dYxUtecag9x4IaB2vUNM34sEso6rWTgEche5J6ahwEQ=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/css/bootstrap-datetimepicker.min.css" integrity="sha256-9FNpuXEYWYfrusiXLO73oIURKAOVzqzkn69cVqgKMRY=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.js" integrity="sha256-a+PRq3NbyK3G08Boio9X6+yFiHpTSIrbE7uzZvqmDac=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.css" integrity="sha256-JvdVmxv7Q0LsN1EJo2zc1rACwzatOzkyx11YI4aP9PY=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/devbridge-autocomplete@1.4.11/dist/jquery.autocomplete.min.js" integrity="sha256-BNpu3uLkB3SwY3a2H3Ue7WU69QFdSRlJVBrDTnVKjiA=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery-validation@1.21.0/dist/jquery.validate.min.js" integrity="sha256-umbTaFxP31Fv6O1itpLS/3+v5fOAWDLOUzlmvOGaKV4=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/js-cookie@3.0.5/dist/js.cookie.min.js" integrity="sha256-WCzAhd2P6gRJF9Hv3oOOd+hFJi/QJbv+Azn4CGB8gfY=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdnjs.cloudflare.com/ajax/libs/ScrollToFixed/1.0.8/jquery-scrolltofixed-min.js" integrity="sha512-ohXbv1eFvjIHMXG/jY057oHdBZ/jhthP1U3jES/nYyFdc9g6xBpjDjKIacGoPG6hY//xVQeqpWx8tNjexXWdqA==" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script async src="https://www.googletagmanager.com/gtag/js?id=G-HMPSQC23JJ"></script>
|
|
<script>
|
|
window.dataLayer = window.dataLayer || [];
|
|
function gtag(){window.dataLayer.push(arguments);}
|
|
gtag("js", new Date());
|
|
gtag("config", "G-HMPSQC23JJ");
|
|
</script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script src="/static/omim/js/site.js?version=Zmk5Y1" integrity="sha256-fi9cXywxCO5p0mU1OSWcMp0DTQB4s8ncFR8j+IO840s="></script>
|
|
|
|
|
|
<link rel="stylesheet" href="/static/omim/css/site.css?version=VGE4MF" integrity="sha256-Ta80Qpm3w1S8kmnN0ornbsZxdfA32R42R4ncsbos0YU=" />
|
|
|
|
|
|
<script src="/static/omim/js/entry/entry.js?version=anMvRU" integrity="sha256-js/EBOBZzGDctUqr1VhnNPzEiA7w3HM5JbFmOj2CW84="></script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimBootstrapDeviceSize">
|
|
<div class="visible-xs" data-mim-bootstrap-device-size="xs"></div>
|
|
<div class="visible-sm" data-mim-bootstrap-device-size="sm"></div>
|
|
<div class="visible-md" data-mim-bootstrap-device-size="md"></div>
|
|
<div class="visible-lg" data-mim-bootstrap-device-size="lg"></div>
|
|
</div>
|
|
|
|
|
|
|
|
<title>
|
|
|
|
Entry Search - 127550 179835 187270 224230 268130 300126 305000 602322 604212 604319 606470 606471 606478 608833 609377 612199 612661 613128 613129 613987 613988 613989 613990 615190 616353 616381 616553 617341 617868 618674 619767 620365
|
|
|
|
- OMIM
|
|
|
|
</title>
|
|
|
|
|
|
|
|
</head>
|
|
|
|
<body>
|
|
<div id="mimBody">
|
|
|
|
|
|
|
|
<div id="mimHeader" class="hidden-print">
|
|
|
|
|
|
|
|
<nav class="navbar navbar-inverse navbar-fixed-top mim-navbar-background">
|
|
<div class="container-fluid">
|
|
|
|
<!-- Brand and toggle get grouped for better mobile display -->
|
|
<div class="navbar-header">
|
|
<button type="button" class="navbar-toggle collapsed" data-toggle="collapse" data-target="#mimNavbarCollapse" aria-expanded="false">
|
|
<span class="sr-only"> Toggle navigation </span>
|
|
<span class="icon-bar"></span>
|
|
<span class="icon-bar"></span>
|
|
<span class="icon-bar"></span>
|
|
</button>
|
|
<a class="navbar-brand" href="/"><img alt="OMIM" src="/static/omim/icons/OMIM_davinciman.001.png" height="30" width="30"></a>
|
|
</div>
|
|
|
|
<div id="mimNavbarCollapse" class="collapse navbar-collapse">
|
|
|
|
<ul class="nav navbar-nav">
|
|
|
|
|
|
<li>
|
|
<a href="/help/about"><span class="mim-navbar-menu-font"> About </span></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimStatisticsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Statistics <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="statisticsDropdown">
|
|
<li>
|
|
<a href="/statistics/update"> Update List </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/entry"> Entry Statistics </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/geneMap"> Phenotype-Gene Statistics </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/paceGraph"> Pace of Gene Discovery Graph </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimDownloadsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Downloads <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="downloadsDropdown">
|
|
|
|
<li>
|
|
<a href="/downloads/"> Register for Downloads </a>
|
|
</li>
|
|
<li>
|
|
<a href="/api"> Register for API Access </a>
|
|
</li>
|
|
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li>
|
|
<a href="/contact"><span class="mim-navbar-menu-font"> Contact Us </span></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<li>
|
|
|
|
<a href="/mimmatch/">
|
|
|
|
<span class="mim-navbar-menu-font">
|
|
<span class="mim-tip-bottom" qtip_title="<strong>MIMmatch</strong>" qtip_text="MIMmatch is a way to follow OMIM entries that interest you and to find other researchers who may share interest in the same entries. <br /><br />A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships.">
|
|
MIMmatch
|
|
</span>
|
|
</span>
|
|
</a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimDonateDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Donate <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="donateDropdown">
|
|
<li>
|
|
<a href="https://secure.jhu.edu/form/OMIM" target="_blank" onclick="gtag('event', 'mim_donation', {'destination': 'secure.jhu.edu'})"> Donate! </a>
|
|
</li>
|
|
<li>
|
|
<a href="/donors"> Donors </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimHelpDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Help <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="helpDropdown">
|
|
<li>
|
|
<a href="/help/faq"> Frequently Asked Questions (FAQs) </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/search"> Search Help </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/linking"> Linking Help </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/api"> API Help </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/external"> External Links </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/agreement"> Use Agreement </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/copyright"> Copyright </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li>
|
|
<a href="#" id="mimShowTips" class="mim-tip-hint" title="Click to reveal all tips on the page. You can also hover over individual elements to reveal the tip."><span class="mim-navbar-menu-font"><span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span></span></a>
|
|
</li>
|
|
|
|
|
|
</ul>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
</nav>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimSearch" class="hidden-print">
|
|
|
|
<div class="container">
|
|
|
|
<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
|
|
|
|
<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
|
|
<input type="hidden" id="mimSearchStart" name="start" value="1" />
|
|
<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
|
|
<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-8 col-md-8 col-sm-8 col-xs-8">
|
|
<div class="form-group">
|
|
<div class="input-group">
|
|
<input type="search" id="mimEntrySearch" name="search" class="form-control" value="127550 179835 187270 224230 268130 300126 305000 602322 604212 604319 606470 606471 606478 608833 609377 612199 612661 613128 613129 613987 613988 613989 613990 615190 616353 616381 616553 617341 617868 618674 619767 620365" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" />
|
|
<div class="input-group-btn">
|
|
<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
|
|
<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
|
|
<ul class="dropdown-menu dropdown-menu-right">
|
|
<li class="dropdown-header">
|
|
Advanced Search
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/entry?index=entry&search=127550+179835+187270+224230+268130+300126+305000+602322+604212+604319+606470+606471+606478+608833+609377+612199+612661+613128+613129+613987+613988+613989+613990+615190+616353+616381+616553+617341+617868+618674+619767+620365&field=number&sort=score+desc&start=1&limit=10"> OMIM </a>
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/geneMap"> Gene Map </a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/history"> Search History </a>
|
|
</li>
|
|
|
|
|
|
</ul>
|
|
</div>
|
|
</div>
|
|
<div class="autocomplete" id="mimEntrySearchAutocomplete"></div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="col-lg-4 col-md-4 col-sm-4 col-xs-4">
|
|
<span class="small">
|
|
|
|
|
|
|
|
View Results as:
|
|
|
|
<a href="/search?index=entry&search=127550+179835+187270+224230+268130+300126+305000+602322+604212+604319+606470+606471+606478+608833+609377+612199+612661+613128+613129+613987+613988+613989+613990+615190+616353+616381+616553+617341+617868+618674+619767+620365&field=number&start=1&limit=10&retrieve=geneMap&genemap_exists=true" class="btn btn-primary btn-xs" role="button"> Gene Map Table </a>
|
|
|
|
|
|
|
|
<a href="/search?index=entry&search=127550+179835+187270+224230+268130+300126+305000+602322+604212+604319+606470+606471+606478+608833+609377+612199+612661+613128+613129+613987+613988+613989+613990+615190+616353+616381+616553+617341+617868+618674+619767+620365&field=number&sort=score+desc%2C+prefix_sort+desc&start=1&limit=10&retrieve=clinicalSynopsis&cs_exists=true" class="btn btn-primary btn-xs" role="button"> Clinical Synopsis </a>
|
|
|
|
<span class="mim-tip-bottom" qtip_title="<strong> Want gene-phenotype relationships or a quick view of clinical features? </strong>" qtip_text="The Gene Map Table displays the MIM entries in your results in tabular form organized by chromosomal position of the gene or locus. The table includes genomic and cytogenetic location, gene, MIM#s, and phenotypes. <br /><br />Clinical Synopsis displays the Quick View format of clinical synopses associated with your search results. Clinical synopses are not associated with gene entries."><span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span></span>
|
|
|
|
|
|
|
|
<span class="hidden-sm hidden-xs">
|
|
|
|
|
|
<br />
|
|
|
|
Display:
|
|
|
|
<label style="font-weight: normal"><input type="checkbox" id="mimToggleHighlights" checked /> Highlights </label>
|
|
|
|
|
|
|
|
</span>
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</form>
|
|
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
<!-- <div id="mimSearch"> -->
|
|
|
|
|
|
|
|
|
|
<div id="mimContent">
|
|
|
|
|
|
|
|
<div class="container hidden-print">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
|
|
<div id="mimAlertBanner">
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
Search: <span class="mim-text-font">'127550 179835 187270 224230 268130 300126 305000 602322 604212 604319 606470 606471 606478 608833 609377 612199 612661 613128 613129 613987 613988 613989 613990 615190 616353 616381 616553 617341 617868 618674 619767 620365 (Search in: MIM number)'</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-3 col-md-3 col-sm-3 col-xs-3">
|
|
Results: 32 entries.
|
|
</div>
|
|
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6 text-center text-nowrap">
|
|
|
|
<span class="hidden-sm hidden-xs">
|
|
|
|
|
|
<a href="?index=entry&search=127550+179835+187270+224230+268130+300126+305000+602322+604212+604319+606470+606471+606478+608833+609377+612199+612661+613128+613129+613987+613988+613989+613990+615190+616353+616381+616553+617341+617868+618674+619767+620365&field=number&sort=score+desc&start=1&limit=100"> Show 100 </a>
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group" role="group">
|
|
<button type="button" class="btn btn-default btn-xs dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
Download As
|
|
<span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu">
|
|
|
|
<li>
|
|
<a href="?index=entry&search=127550+179835+187270+224230+268130+300126+305000+602322+604212+604319+606470+606471+606478+608833+609377+612199+612661+613128+613129+613987+613988+613989+613990+615190+616353+616381+616553+617341+617868+618674+619767+620365&field=number&sort=score+desc&start=1&limit=200&format=xlsx"> Excel File </a>
|
|
</li>
|
|
<li>
|
|
<a href="?index=entry&search=127550+179835+187270+224230+268130+300126+305000+602322+604212+604319+606470+606471+606478+608833+609377+612199+612661+613128+613129+613987+613988+613989+613990+615190+616353+616381+616553+617341+617868+618674+619767+620365&field=number&sort=score+desc&start=1&limit=200&format=tsv"> Tab-delimited File </a>
|
|
</li>
|
|
|
|
</ul>
|
|
</div>
|
|
</span>
|
|
|
|
|
|
<span class="hidden-sm hidden-xs">
|
|
|
|
|
</span>
|
|
|
|
|
|
<span class="text-muted">« First</span>
|
|
|
|
|
|
|
|
|
|
|
<span class="text-muted">‹ Previous</span>
|
|
|
|
|
|
|
|
|
|
|
<a href="?index=entry&search=127550+179835+187270+224230+268130+300126+305000+602322+604212+604319+606470+606471+606478+608833+609377+612199+612661+613128+613129+613987+613988+613989+613990+615190+616353+616381+616553+617341+617868+618674+619767+620365&field=number&sort=score+desc&start=2&limit=10"> Next › </a>
|
|
|
|
|
|
|
|
|
|
|
<a href="?index=entry&search=127550+179835+187270+224230+268130+300126+305000+602322+604212+604319+606470+606471+606478+608833+609377+612199+612661+613128+613129+613987+613988+613989+613990+615190+616353+616381+616553+617341+617868+618674+619767+620365&field=number&sort=score+desc&start=4&limit=10"> Last » </a>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
|
|
1:
|
|
</div>
|
|
|
|
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
|
|
|
|
<span class="mim-result-font">
|
|
<a href="/entry/187270?search=127550%20179835%20187270%20224230%20268130%20300126%20305000%20602322%20604212%20604319%20606470%20606471%20606478%20608833%20609377%20612199%20612661%20613128%20613129%20613987%20613988%20613989%20613990%20615190%20616353%20616381%20616553%20617341%20617868%20618674%20619767%20620365&highlight=187270%2C300126%2C608833%2C612199%2C613128%2C613129%2C613987%2C613988%2C613989%2C613990">
|
|
<span class="mim-tip-hint" title="Gene description">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
187270.
|
|
</span>
|
|
TELOMERASE REVERSE TRANSCRIPTASE; TERT
|
|
</a>
|
|
</span>
|
|
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-muted">
|
|
Cytogenetic location:
|
|
<span class="mim-font">
|
|
<a href="/geneMap/5/22?start=-3&limit=10&highlight=22">
|
|
5p15.33</a></span>,
|
|
Genomic coordinates <span class="small">(GRCh38)</span>: <span class="mim-font"><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr5:1253167-1295068&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">5:1,253,167-1,295,068</a></span>
|
|
</span>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-success">Matching terms: <span class="mim-font">187270</span></span>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
|
|
<a href="#mimGeneMapFold_1" id="mimGeneMapToggle_1" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimGeneMapToggleTriangle_1" class="mimSingletonToggleTriangle" style="color: DarkOrchid">►</span> Gene-Phenotype Relationships</span></a>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<a href="#mimLinksFold_1" id="mimLinksToggle_1" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'Links'})"><span class="small"><span id="mimLinksToggleTriangle_1" class="mimSingletonToggleTriangle" style="color: #337CB5">►</span> Links</span></a>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimGeneMapFold_1" class="well well-sm collapse mimSingletonToggleFold">
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<caption>
|
|
Gene-Phenotype Relationships
|
|
</caption>
|
|
<thead>
|
|
<tr>
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="5">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/5/22?start=-3&limit=10&highlight=22">
|
|
5p15.33
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
{Leukemia, acute myeloid}
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/601626"> 601626 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Somatic mutation">SMu</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Melanoma, cutaneous malignant, 9}
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/615134"> 615134 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Dyskeratosis congenita, autosomal dominant 2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/613989"> 613989 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Dyskeratosis congenita, autosomal recessive 4
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/613989"> 613989 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/614742"> 614742 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
<div class="text-right small">
|
|
<a href="#mimGeneMapFold_1" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimLinksFold_1" class="well well-sm collapse mimSingletonToggleFold">
|
|
<table class="table table-condensed small mim-table-padding ">
|
|
<caption>
|
|
Links
|
|
</caption>
|
|
<tbody>
|
|
<tr>
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Testing</dt>
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=187270[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
|
|
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Genome</dt>
|
|
|
|
|
|
<dd><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000164362;t=ENST00000310581" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=7015" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></dd>
|
|
|
|
|
|
<dd><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=187270" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></dd>
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>DNA</dt>
|
|
|
|
|
|
<dd><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000164362;t=ENST00000310581" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001193376,NM_198253,NR_149162,NR_149163" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_198253" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></dd>
|
|
|
|
|
|
<dd><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=187270" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></dd>
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Protein</dt>
|
|
|
|
|
|
<dd><a href="https://hprd.org/summary?hprd_id=01754&isoform_id=01754_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.proteinatlas.org/search/TERT" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/protein/2330017,2347129,4324973,6226780,12642957,22759946,22759954,22759956,38523859,38523893,82399157,109633031,119628570,119628571,119628572,119628573,119628574,119628575,119628576,125654999,145582086,301129200,303226717,333032615,333032619" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.uniprot.org/uniprotkb/O14746" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></dd>
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Gene Info</dt>
|
|
|
|
|
|
<dd><a href="http://biogps.org/#goto=genereport&id=7015" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000164362;t=ENST00000310581" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=TERT" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="http://amigo.geneontology.org/amigo/search/annotation?q=TERT" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+7015" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="http://v1.marrvel.org/search/gene/TERT" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://monarchinitiative.org/NCBIGene:7015" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/gene/7015" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr5&hgg_gene=ENST00000310581.10&hgg_start=1253167&hgg_end=1295068&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></dd>
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Clinical Resources</dt>
|
|
|
|
|
|
<dd><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11730" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://search.clinicalgenome.org/kb/genes/HGNC:11730" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=187270[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Variation</dt>
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=187270[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.deciphergenomics.org/gene/TERT/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://gnomad.broadinstitute.org/gene/ENSG00000164362" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.ebi.ac.uk/gwas/search?query=TERT" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.gwascentral.org/search?q=TERT" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=TERT" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="http://telomerase.asu.edu/diseases.html#tert" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=TERT&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.pharmgkb.org/gene/PA36447" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></dd>
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Animal Models</dt>
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.alliancegenome.org/gene/HGNC:11730" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.mousephenotype.org/data/genes/MGI:1202709" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="http://v1.marrvel.org/search/gene/TERT#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="http://www.informatics.jax.org/marker/MGI:1202709" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=MGI:1202709" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/gene/7015/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.orthodb.org/?ncbi=7015" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://wormbase.org/db/gene/gene?name=WBGene00006618;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></dd> Wormbase Gene
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://zfin.org/ZDB-GENE-080405-1" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></dd>
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Cellular Pathways</dt>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7015" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://reactome.org/content/query?q=TERT&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></dd>
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
</tr>
|
|
</tbody>
|
|
</table>
|
|
<div class="text-right small">
|
|
<a href="#mimLinksFold_1" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
|
|
2:
|
|
</div>
|
|
|
|
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
|
|
|
|
<span class="mim-result-font">
|
|
<a href="/entry/300126?search=127550%20179835%20187270%20224230%20268130%20300126%20305000%20602322%20604212%20604319%20606470%20606471%20606478%20608833%20609377%20612199%20612661%20613128%20613129%20613987%20613988%20613989%20613990%20615190%20616353%20616381%20616553%20617341%20617868%20618674%20619767%20620365&highlight=187270%2C300126%2C608833%2C612199%2C613128%2C613129%2C613987%2C613988%2C613989%2C613990">
|
|
<span class="mim-tip-hint" title="Gene description">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
300126.
|
|
</span>
|
|
DYSKERIN; DKC1
|
|
</a>
|
|
</span>
|
|
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-muted">
|
|
Cytogenetic location:
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/876?start=-3&limit=10&highlight=876">
|
|
Xq28</a></span>,
|
|
Genomic coordinates <span class="small">(GRCh38)</span>: <span class="mim-font"><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrX:154762864-154777689&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">X:154,762,864-154,777,689</a></span>
|
|
</span>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-success">Matching terms: <span class="mim-font">300126</span></span>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
|
|
<a href="#mimGeneMapFold_2" id="mimGeneMapToggle_2" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimGeneMapToggleTriangle_2" class="mimSingletonToggleTriangle" style="color: DarkOrchid">►</span> Gene-Phenotype Relationships</span></a>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<a href="#mimDisorderCodesFold_2" id="mimDisorderCodesToggle_2" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'ICD+'})"><span class="small"><span id="mimDisorderCodesToggleTriangle_2" class="mimSingletonToggleTriangle" style="color: DarkRed">►</span> ICD+</span></a>
|
|
|
|
|
|
|
|
<a href="#mimLinksFold_2" id="mimLinksToggle_2" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'Links'})"><span class="small"><span id="mimLinksToggleTriangle_2" class="mimSingletonToggleTriangle" style="color: #337CB5">►</span> Links</span></a>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimGeneMapFold_2" class="well well-sm collapse mimSingletonToggleFold">
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<caption>
|
|
Gene-Phenotype Relationships
|
|
</caption>
|
|
<thead>
|
|
<tr>
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/876?start=-3&limit=10&highlight=876">
|
|
Xq28
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
?Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/301108"> 301108 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Dyskeratosis congenita, X-linked
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/305000"> 305000 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
<div class="text-right small">
|
|
<a href="#mimGeneMapFold_2" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimLinksFold_2" class="well well-sm collapse mimSingletonToggleFold">
|
|
<table class="table table-condensed small mim-table-padding ">
|
|
<caption>
|
|
Links
|
|
</caption>
|
|
<tbody>
|
|
<tr>
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Testing</dt>
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=300126[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
|
|
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Genome</dt>
|
|
|
|
|
|
<dd><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000130826;t=ENST00000369550" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=1736" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></dd>
|
|
|
|
|
|
<dd><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=300126" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></dd>
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>DNA</dt>
|
|
|
|
|
|
<dd><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000130826;t=ENST00000369550" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001142463,NM_001288747,NM_001363,NR_110021,NR_110022,NR_110023" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001363" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></dd>
|
|
|
|
|
|
<dd><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=300126" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></dd>
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Protein</dt>
|
|
|
|
|
|
<dd><a href="https://hprd.org/summary?hprd_id=02129&isoform_id=02129_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.proteinatlas.org/search/DKC1" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/protein/2737894,3135028,3873221,3913488,4416165,4493694,4503337,5542014,14602859,14603090,119593067,119593068,119593069,215599015,323434335,556000153,556000155,556000157,570700851" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.uniprot.org/uniprotkb/O60832" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></dd>
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Gene Info</dt>
|
|
|
|
|
|
<dd><a href="http://biogps.org/#goto=genereport&id=1736" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000130826;t=ENST00000369550" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=DKC1" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="http://amigo.geneontology.org/amigo/search/annotation?q=DKC1" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+1736" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="http://v1.marrvel.org/search/gene/DKC1" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://monarchinitiative.org/NCBIGene:1736" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/gene/1736" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chrX&hgg_gene=ENST00000369550.10&hgg_start=154762864&hgg_end=154777689&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></dd>
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Clinical Resources</dt>
|
|
|
|
|
|
<dd><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2890" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://search.clinicalgenome.org/kb/genes/HGNC:2890" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://medlineplus.gov/genetics/gene/dkc1" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=300126[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Variation</dt>
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=300126[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.deciphergenomics.org/gene/DKC1/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://gnomad.broadinstitute.org/gene/ENSG00000130826" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.ebi.ac.uk/gwas/search?query=DKC1" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.gwascentral.org/search?q=DKC1" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=DKC1" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd>Locus Specific DBs</dd>
|
|
<dd style="margin-left: 0.5em;"><a href="http://structure.bmc.lu.se/idbase/DKC1base/" title="DKC1base: Mutation registry for Hoyeraal-Hreidarsson syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">DKC1base: Mutation registr…</a></dd><dd style="margin-left: 0.5em;"><a href="http://telomerase.asu.edu/diseases.html#dkc1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">The Telomerase Database</a></dd><dd style="margin-left: 0.5em;"><a href="http://www.LOVD.nl/DKC1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">DKC1 database at LOVD</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=DKC1&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.pharmgkb.org/gene/PA27344" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></dd>
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Animal Models</dt>
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.alliancegenome.org/gene/HGNC:2890" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://flybase.org/reports/FBgn0259937.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.mousephenotype.org/data/genes/MGI:1861727" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="http://v1.marrvel.org/search/gene/DKC1#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="http://www.informatics.jax.org/marker/MGI:1861727" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=MGI:1861727" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/gene/1736/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.orthodb.org/?ncbi=1736" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://wormbase.org/db/gene/gene?name=WBGene00010478;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></dd> Wormbase Gene
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://zfin.org/ZDB-GENE-031118-120" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></dd>
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Cell Lines</dt>
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://catalog.coriell.org/Search?q=OmimNum:300126" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></dd>
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Cellular Pathways</dt>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1736" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://reactome.org/content/query?q=DKC1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></dd>
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
</tr>
|
|
</tbody>
|
|
</table>
|
|
<div class="text-right small">
|
|
<a href="#mimLinksFold_2" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimDisorderCodesFold_2" class="well well-sm collapse mimSingletonToggleFold">
|
|
<table class="table table-condensed small mim-table-padding">
|
|
<caption>
|
|
ICD+
|
|
</caption>
|
|
<tbody>
|
|
<tr>
|
|
<td>
|
|
<dl>
|
|
|
|
<dd>SNOMEDCT: 708536001</dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
</tr>
|
|
</tbody>
|
|
</table>
|
|
<div class="text-right small">
|
|
<a href="#mimDisorderCodesFold_2" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
|
|
3:
|
|
</div>
|
|
|
|
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
|
|
|
|
<span class="mim-result-font">
|
|
<a href="/entry/608833?search=127550%20179835%20187270%20224230%20268130%20300126%20305000%20602322%20604212%20604319%20606470%20606471%20606478%20608833%20609377%20612199%20612661%20613128%20613129%20613987%20613988%20613989%20613990%20615190%20616353%20616381%20616553%20617341%20617868%20618674%20619767%20620365&highlight=187270%2C300126%2C608833%2C612199%2C613128%2C613129%2C613987%2C613988%2C613989%2C613990">
|
|
<span class="mim-tip-hint" title="Gene description">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
608833.
|
|
</span>
|
|
REGULATOR OF TELOMERE ELONGATION HELICASE 1; RTEL1
|
|
</a>
|
|
</span>
|
|
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-muted">
|
|
Cytogenetic location:
|
|
<span class="mim-font">
|
|
<a href="/geneMap/20/478?start=-3&limit=10&highlight=478">
|
|
20q13.33</a></span>,
|
|
Genomic coordinates <span class="small">(GRCh38)</span>: <span class="mim-font"><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr20:63657810-63696253&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">20:63,657,810-63,696,253</a></span>
|
|
</span>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-success">Matching terms: <span class="mim-font">608833</span></span>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
|
|
<a href="#mimGeneMapFold_3" id="mimGeneMapToggle_3" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimGeneMapToggleTriangle_3" class="mimSingletonToggleTriangle" style="color: DarkOrchid">►</span> Gene-Phenotype Relationships</span></a>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<a href="#mimLinksFold_3" id="mimLinksToggle_3" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'Links'})"><span class="small"><span id="mimLinksToggleTriangle_3" class="mimSingletonToggleTriangle" style="color: #337CB5">►</span> Links</span></a>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimGeneMapFold_3" class="well well-sm collapse mimSingletonToggleFold">
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<caption>
|
|
Gene-Phenotype Relationships
|
|
</caption>
|
|
<thead>
|
|
<tr>
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="3">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/20/478?start=-3&limit=10&highlight=478">
|
|
20q13.33
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Dyskeratosis congenita, autosomal dominant 4
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/615190"> 615190 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Dyskeratosis congenita, autosomal recessive 5
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/615190"> 615190 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/616373"> 616373 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
<div class="text-right small">
|
|
<a href="#mimGeneMapFold_3" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimLinksFold_3" class="well well-sm collapse mimSingletonToggleFold">
|
|
<table class="table table-condensed small mim-table-padding ">
|
|
<caption>
|
|
Links
|
|
</caption>
|
|
<tbody>
|
|
<tr>
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Testing</dt>
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=608833[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
|
|
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Genome</dt>
|
|
|
|
|
|
<dd><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000258366;t=ENST00000360203" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=51750" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></dd>
|
|
|
|
|
|
<dd><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=608833" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></dd>
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>DNA</dt>
|
|
|
|
|
|
<dd><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000258366;t=ENST00000360203" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001283009,NM_001283010,NM_016434,NM_032957" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001283009" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></dd>
|
|
|
|
|
|
<dd><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=608833" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></dd>
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Protein</dt>
|
|
|
|
|
|
<dd><a href="https://hprd.org/summary?hprd_id=15281&isoform_id=15281_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.proteinatlas.org/search/RTEL1" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/protein/5262564,6969265,7012929,7020606,7706541,119595644,119595645,119595646,119595647,119595651,194379638,194387848,194388328,229462743,323510681,449102278,545688900,545688902" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.uniprot.org/uniprotkb/Q9NZ71" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></dd>
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Gene Info</dt>
|
|
|
|
|
|
<dd><a href="http://biogps.org/#goto=genereport&id=51750" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000258366;t=ENST00000360203" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=RTEL1" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="http://amigo.geneontology.org/amigo/search/annotation?q=RTEL1" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+51750" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="http://v1.marrvel.org/search/gene/RTEL1" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://monarchinitiative.org/NCBIGene:51750" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/gene/51750" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr20&hgg_gene=ENST00000360203.11&hgg_start=63657810&hgg_end=63696253&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></dd>
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Clinical Resources</dt>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=608833[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Variation</dt>
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=608833[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.deciphergenomics.org/gene/RTEL1/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://gnomad.broadinstitute.org/gene/ENSG00000258366" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.ebi.ac.uk/gwas/search?query=RTEL1" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.gwascentral.org/search?q=RTEL1" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=RTEL1" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=RTEL1&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.pharmgkb.org/gene/PA134915625" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></dd>
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Animal Models</dt>
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.alliancegenome.org/gene/HGNC:15888" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://flybase.org/reports/FBgn0029798.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.mousephenotype.org/data/genes/MGI:2139369" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="http://v1.marrvel.org/search/gene/RTEL1#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="http://www.informatics.jax.org/marker/MGI:2139369" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=MGI:2139369" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/gene/51750/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.orthodb.org/?ncbi=51750" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://wormbase.org/db/gene/gene?name=WBGene00009124;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></dd> Wormbase Gene
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://zfin.org/ZDB-GENE-050306-11" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></dd>
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Cellular Pathways</dt>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://reactome.org/content/query?q=RTEL1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></dd>
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
</tr>
|
|
</tbody>
|
|
</table>
|
|
<div class="text-right small">
|
|
<a href="#mimLinksFold_3" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
|
|
4:
|
|
</div>
|
|
|
|
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
|
|
|
|
<span class="mim-result-font">
|
|
<a href="/entry/613128?search=127550%20179835%20187270%20224230%20268130%20300126%20305000%20602322%20604212%20604319%20606470%20606471%20606478%20608833%20609377%20612199%20612661%20613128%20613129%20613987%20613988%20613989%20613990%20615190%20616353%20616381%20616553%20617341%20617868%20618674%20619767%20620365&highlight=187270%2C300126%2C608833%2C612199%2C613128%2C613129%2C613987%2C613988%2C613989%2C613990">
|
|
<span class="mim-tip-hint" title="Gene description">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
613128.
|
|
</span>
|
|
STN1, CST COMPLEX SUBUNIT; STN1
|
|
</a>
|
|
</span>
|
|
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-muted">
|
|
Cytogenetic location:
|
|
<span class="mim-font">
|
|
<a href="/geneMap/10/541?start=-3&limit=10&highlight=541">
|
|
10q24.33</a></span>,
|
|
Genomic coordinates <span class="small">(GRCh38)</span>: <span class="mim-font"><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr10:103877569-103918184&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">10:103,877,569-103,918,184</a></span>
|
|
</span>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-success">Matching terms: <span class="mim-font">613128</span></span>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
|
|
<a href="#mimGeneMapFold_4" id="mimGeneMapToggle_4" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimGeneMapToggleTriangle_4" class="mimSingletonToggleTriangle" style="color: DarkOrchid">►</span> Gene-Phenotype Relationships</span></a>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<a href="#mimLinksFold_4" id="mimLinksToggle_4" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'Links'})"><span class="small"><span id="mimLinksToggleTriangle_4" class="mimSingletonToggleTriangle" style="color: #337CB5">►</span> Links</span></a>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimGeneMapFold_4" class="well well-sm collapse mimSingletonToggleFold">
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<caption>
|
|
Gene-Phenotype Relationships
|
|
</caption>
|
|
<thead>
|
|
<tr>
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/10/541?start=-3&limit=10&highlight=541">
|
|
10q24.33
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Cerebroretinal microangiopathy with calcifications and cysts 2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/617341"> 617341 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
<div class="text-right small">
|
|
<a href="#mimGeneMapFold_4" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimLinksFold_4" class="well well-sm collapse mimSingletonToggleFold">
|
|
<table class="table table-condensed small mim-table-padding ">
|
|
<caption>
|
|
Links
|
|
</caption>
|
|
<tbody>
|
|
<tr>
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Testing</dt>
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=613128[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
|
|
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Genome</dt>
|
|
|
|
|
|
<dd><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000107960;t=ENST00000224950" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=79991" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></dd>
|
|
|
|
|
|
<dd><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=613128" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></dd>
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>DNA</dt>
|
|
|
|
|
|
<dd><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000107960;t=ENST00000224950" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_024928" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_024928" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></dd>
|
|
|
|
|
|
<dd><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=613128" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></dd>
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Protein</dt>
|
|
|
|
|
|
<dd><a href="https://hprd.org/summary?hprd_id=14872&isoform_id=14872_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.proteinatlas.org/search/STN1" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/protein/10438990,16924252,62900737,119570004,119570005,194394165" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.uniprot.org/uniprotkb/Q9H668" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></dd>
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Gene Info</dt>
|
|
|
|
|
|
<dd><a href="http://biogps.org/#goto=genereport&id=79991" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000107960;t=ENST00000224950" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=STN1" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="http://amigo.geneontology.org/amigo/search/annotation?q=STN1" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+79991" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="http://v1.marrvel.org/search/gene/STN1" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://monarchinitiative.org/NCBIGene:79991" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/gene/79991" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr10&hgg_gene=ENST00000698239.1&hgg_start=103877569&hgg_end=103918184&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></dd>
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Clinical Resources</dt>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=613128[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Variation</dt>
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=613128[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.deciphergenomics.org/gene/STN1/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://gnomad.broadinstitute.org/gene/ENSG00000107960" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.ebi.ac.uk/gwas/search?query=STN1" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.gwascentral.org/search?q=STN1" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=STN1" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=STN1&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.pharmgkb.org/gene/PA134987118" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></dd>
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Animal Models</dt>
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.alliancegenome.org/gene/HGNC:26200" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.mousephenotype.org/data/genes/MGI:1915581" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="http://v1.marrvel.org/search/gene/STN1#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="http://www.informatics.jax.org/marker/MGI:1915581" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=MGI:1915581" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/gene/79991/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://omia.org/OMIA002035/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.orthodb.org/?ncbi=79991" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://zfin.org/ZDB-GENE-040426-1390" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></dd>
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Cellular Pathways</dt>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://reactome.org/content/query?q=STN1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></dd>
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
</tr>
|
|
</tbody>
|
|
</table>
|
|
<div class="text-right small">
|
|
<a href="#mimLinksFold_4" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
|
|
5:
|
|
</div>
|
|
|
|
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
|
|
|
|
<span class="mim-result-font">
|
|
<a href="/entry/613129?search=127550%20179835%20187270%20224230%20268130%20300126%20305000%20602322%20604212%20604319%20606470%20606471%20606478%20608833%20609377%20612199%20612661%20613128%20613129%20613987%20613988%20613989%20613990%20615190%20616353%20616381%20616553%20617341%20617868%20618674%20619767%20620365&highlight=187270%2C300126%2C608833%2C612199%2C613128%2C613129%2C613987%2C613988%2C613989%2C613990">
|
|
<span class="mim-tip-hint" title="Gene description">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
613129.
|
|
</span>
|
|
CONSERVED TELOMERE MAINTENANCE COMPONENT 1; CTC1
|
|
</a>
|
|
</span>
|
|
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-muted">
|
|
Cytogenetic location:
|
|
<span class="mim-font">
|
|
<a href="/geneMap/17/202?start=-3&limit=10&highlight=202">
|
|
17p13.1</a></span>,
|
|
Genomic coordinates <span class="small">(GRCh38)</span>: <span class="mim-font"><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr17:8224815-8248056&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">17:8,224,815-8,248,056</a></span>
|
|
</span>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-success">Matching terms: <span class="mim-font">613129</span></span>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
|
|
<a href="#mimGeneMapFold_5" id="mimGeneMapToggle_5" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimGeneMapToggleTriangle_5" class="mimSingletonToggleTriangle" style="color: DarkOrchid">►</span> Gene-Phenotype Relationships</span></a>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<a href="#mimLinksFold_5" id="mimLinksToggle_5" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'Links'})"><span class="small"><span id="mimLinksToggleTriangle_5" class="mimSingletonToggleTriangle" style="color: #337CB5">►</span> Links</span></a>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimGeneMapFold_5" class="well well-sm collapse mimSingletonToggleFold">
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<caption>
|
|
Gene-Phenotype Relationships
|
|
</caption>
|
|
<thead>
|
|
<tr>
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/17/202?start=-3&limit=10&highlight=202">
|
|
17p13.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Cerebroretinal microangiopathy with calcifications and cysts
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/612199"> 612199 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
<div class="text-right small">
|
|
<a href="#mimGeneMapFold_5" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimLinksFold_5" class="well well-sm collapse mimSingletonToggleFold">
|
|
<table class="table table-condensed small mim-table-padding ">
|
|
<caption>
|
|
Links
|
|
</caption>
|
|
<tbody>
|
|
<tr>
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Testing</dt>
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=613129[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
|
|
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Genome</dt>
|
|
|
|
|
|
<dd><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000178971;t=ENST00000651323" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=80169" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></dd>
|
|
|
|
|
|
<dd><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=613129" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></dd>
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>DNA</dt>
|
|
|
|
|
|
<dd><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000178971;t=ENST00000651323" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001411067,NM_025099,NR_046431,XM_006721577,XM_011524010,XM_011524011,XM_047436799,XM_047436800,XM_047436801,XM_047436802,XM_047436803,XM_047436804,XM_047436805,XM_047436806,XM_047436807,XM_047436808" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_025099" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></dd>
|
|
|
|
|
|
<dd><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=613129" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></dd>
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Protein</dt>
|
|
|
|
|
|
<dd><a href="https://hprd.org/summary?hprd_id=07980&isoform_id=07980_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.proteinatlas.org/search/CTC1" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/protein/10438452,21732487,83759086,84627464,90970321,119610476,119610477,155029539,193786955,211827295,264667069,292495002,578830042,767992541,767992548,2217313993,2217313995,2217313997,2217313999,2217314001,2217314003,2217314005,2217314007,2217314009,2217314012,2288045772,2462557831,2462557833,2462557835,2462557837,2462557839,2462557841,2462557843,2462557845,2462557847,2462557849,2462557851,2462557853,2462557855" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.uniprot.org/uniprotkb/Q2NKJ3" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></dd>
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Gene Info</dt>
|
|
|
|
|
|
<dd><a href="http://biogps.org/#goto=genereport&id=80169" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000178971;t=ENST00000651323" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=CTC1" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="http://amigo.geneontology.org/amigo/search/annotation?q=CTC1" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+80169" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="http://v1.marrvel.org/search/gene/CTC1" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://monarchinitiative.org/NCBIGene:80169" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/gene/80169" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr17&hgg_gene=ENST00000651323.1&hgg_start=8224815&hgg_end=8248056&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></dd>
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Clinical Resources</dt>
|
|
|
|
|
|
<dd><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26169" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://medlineplus.gov/genetics/gene/ctc1" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=613129[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Variation</dt>
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=613129[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.deciphergenomics.org/gene/CTC1/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://gnomad.broadinstitute.org/gene/ENSG00000178971" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.ebi.ac.uk/gwas/search?query=CTC1" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://www.gwascentral.org/search?q=CTC1" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=CTC1" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=CTC1&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.pharmgkb.org/gene/PA142672251" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></dd>
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Animal Models</dt>
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.alliancegenome.org/gene/HGNC:26169" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.mousephenotype.org/data/genes/MGI:1916214" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="http://v1.marrvel.org/search/gene/CTC1#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="http://www.informatics.jax.org/marker/MGI:1916214" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=MGI:1916214" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/gene/80169/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.orthodb.org/?ncbi=80169" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://zfin.org/ZDB-GENE-061103-271" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></dd>
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Cellular Pathways</dt>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://reactome.org/content/query?q=CTC1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></dd>
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
</tr>
|
|
</tbody>
|
|
</table>
|
|
<div class="text-right small">
|
|
<a href="#mimLinksFold_5" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
|
|
6:
|
|
</div>
|
|
|
|
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
|
|
|
|
<span class="mim-result-font">
|
|
<a href="/entry/613987?search=127550%20179835%20187270%20224230%20268130%20300126%20305000%20602322%20604212%20604319%20606470%20606471%20606478%20608833%20609377%20612199%20612661%20613128%20613129%20613987%20613988%20613989%20613990%20615190%20616353%20616381%20616553%20617341%20617868%20618674%20619767%20620365&highlight=187270%2C300126%2C608833%2C612199%2C613128%2C613129%2C613987%2C613988%2C613989%2C613990">
|
|
<span class="mim-tip-hint" title="Phenotype description, molecular basis known">
|
|
<span class="text-danger"><strong>#</strong></span>
|
|
613987.
|
|
</span>
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2; DKCB2
|
|
</a>
|
|
</span>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-muted">
|
|
Cytogenetic location:
|
|
|
|
|
|
|
|
<span class="mim-font">
|
|
<a href="/geneMap/5/820?start=-3&limit=10&highlight=820">
|
|
5q35.3</a></span>
|
|
|
|
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-success">Matching terms: <span class="mim-font">613987</span></span>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
|
|
<a href="#mimPhenotypeMapFold_6" id="mimPhenotypeMapToggle_6" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimPhenotypeMapToggleTriangle_6" class="mimPingletonToggleTriangle" style="color: DarkOrchid">►</span> Phenotype-Gene Relationships</span></a>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<a href="#mimPhenotypicSeriesFold_6" id="mimPhenotypicSeriesToggle_6" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'PhenotypicSeries'})"><span class="small"><span id="mimPhenotypicSeriesToggleTriangle_6" class="mimSingletonToggleTriangle" style="color: #47B7D9">►</span> Phenotypic Series</span></a>
|
|
|
|
|
|
|
|
|
|
|
|
<a href="#mimDisorderCodesFold_6" id="mimDisorderCodesToggle_6" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'ICD+'})"><span class="small"><span id="mimDisorderCodesToggleTriangle_6" class="mimSingletonToggleTriangle" style="color: DarkRed">►</span> ICD+</span></a>
|
|
|
|
|
|
|
|
<a href="#mimLinksFold_6" id="mimLinksToggle_6" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'Links'})"><span class="small"><span id="mimLinksToggleTriangle_6" class="mimSingletonToggleTriangle" style="color: #337CB5">►</span> Links</span></a>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypeMapFold_6" class="well well-sm collapse mimSingletonToggleFold">
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<caption>
|
|
Phenotype-Gene Relationships
|
|
</caption>
|
|
<thead>
|
|
<tr>
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/5/820?start=-3&limit=10&highlight=820">
|
|
5q35.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Dyskeratosis congenita, autosomal recessive 2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613987"> 613987 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
NHP2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606470"> 606470 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypeMapFold_6" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold_6" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Dyskeratosis congenita
|
|
- <a href="/phenotypicSeries/PS127550">PS127550</a>
|
|
- 16 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/936?start=-3&limit=10&highlight=936"> 1p13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620133"> Dyskeratosis congenita, autosomal recessive 8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620133"> 620133 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609683"> DCLRE1B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609683"> 609683 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/848?start=-3&limit=10&highlight=848"> 3q26.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/127550"> Dyskeratosis congenita, autosomal dominant 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/127550"> 127550 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602322"> TERC </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602322"> 602322 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/22?start=-3&limit=10&highlight=22"> 5p15.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613989"> Dyskeratosis congenita, autosomal dominant 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613989"> 613989 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/187270"> TERT </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/187270"> 187270 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/22?start=-3&limit=10&highlight=22"> 5p15.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613989"> Dyskeratosis congenita, autosomal recessive 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613989"> 613989 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/187270"> TERT </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/187270"> 187270 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/820?start=-3&limit=10&highlight=820"> 5q35.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613987"> Dyskeratosis congenita, autosomal recessive 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613987"> 613987 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606470"> NHP2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606470"> 606470 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/124?start=-3&limit=10&highlight=124"> 14q12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/268130"> Revesz syndrome </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/268130"> 268130 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604319"> TINF2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604319"> 604319 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/124?start=-3&limit=10&highlight=124"> 14q12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613990"> Dyskeratosis congenita, autosomal dominant 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613990"> 613990 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604319"> TINF2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604319"> 604319 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/72?start=-3&limit=10&highlight=72"> 15q14 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/224230"> ?Dyskeratosis congenita, autosomal recessive 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/224230"> 224230 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606471"> NOP10 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606471"> 606471 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/209?start=-3&limit=10&highlight=209"> 16p13.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616353"> Dyskeratosis congenita, autosomal recessive 6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616353"> 616353 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604212"> PARN </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604212"> 604212 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/554?start=-3&limit=10&highlight=554"> 16q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616553"> ?Dyskeratosis congenita, autosomal dominant 6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616553"> 616553 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609377"> ACD </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609377"> 609377 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/554?start=-3&limit=10&highlight=554"> 16q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616553"> ?Dyskeratosis congenita, autosomal recessive 7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616553"> 616553 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609377"> ACD </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609377"> 609377 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/176?start=-3&limit=10&highlight=176"> 17p13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613988"> Dyskeratosis congenita, autosomal recessive 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613988"> 613988 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612661"> WRAP53 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612661"> 612661 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/18/18?start=-3&limit=10&highlight=18"> 18p11.32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620040"> Dyskeratosis congenita, digenic </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Digenic dominant">DD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620040"> 620040 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188350"> TYMS </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188350"> 188350 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/478?start=-3&limit=10&highlight=478"> 20q13.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615190"> Dyskeratosis congenita, autosomal recessive 5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615190"> 615190 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608833"> RTEL1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608833"> 608833 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/478?start=-3&limit=10&highlight=478"> 20q13.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615190"> Dyskeratosis congenita, autosomal dominant 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615190"> 615190 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608833"> RTEL1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608833"> 608833 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/876?start=-3&limit=10&highlight=876"> Xq28 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/305000"> Dyskeratosis congenita, X-linked </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/305000"> 305000 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300126"> DKC1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300126"> 300126 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold_6" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimLinksFold_6" class="well well-sm collapse mimSingletonToggleFold">
|
|
<table class="table table-condensed small mim-table-padding ">
|
|
<caption>
|
|
Links
|
|
</caption>
|
|
<tbody>
|
|
<tr>
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Testing</dt>
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=613987[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=477&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></dd>
|
|
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Clinical Resources</dt>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://clinicaltrials.gov/search?cond=DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=477&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/books/NBK22301/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.diseaseinfosearch.org/x/8283" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=613987[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1775" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Animal Models</dt>
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.alliancegenome.org/disease/DOID:0070017" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="http://www.informatics.jax.org/disease/613987" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://wormbase.org/resources/disease/DOID:0070017" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
</tbody>
|
|
</table>
|
|
<div class="text-right small">
|
|
<a href="#mimLinksFold_6" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimDisorderCodesFold_6" class="well well-sm collapse mimSingletonToggleFold">
|
|
<table class="table table-condensed small mim-table-padding">
|
|
<caption>
|
|
ICD+
|
|
</caption>
|
|
<tbody>
|
|
<tr>
|
|
<td>
|
|
<dl>
|
|
|
|
|
|
|
|
|
|
<dd>ORPHA: 1775</dd>
|
|
|
|
|
|
<dd>DO: 0070017</dd>
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
</tr>
|
|
</tbody>
|
|
</table>
|
|
<div class="text-right small">
|
|
<a href="#mimDisorderCodesFold_6" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
|
|
7:
|
|
</div>
|
|
|
|
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
|
|
|
|
<span class="mim-result-font">
|
|
<a href="/entry/613988?search=127550%20179835%20187270%20224230%20268130%20300126%20305000%20602322%20604212%20604319%20606470%20606471%20606478%20608833%20609377%20612199%20612661%20613128%20613129%20613987%20613988%20613989%20613990%20615190%20616353%20616381%20616553%20617341%20617868%20618674%20619767%20620365&highlight=187270%2C300126%2C608833%2C612199%2C613128%2C613129%2C613987%2C613988%2C613989%2C613990">
|
|
<span class="mim-tip-hint" title="Phenotype description, molecular basis known">
|
|
<span class="text-danger"><strong>#</strong></span>
|
|
613988.
|
|
</span>
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3; DKCB3
|
|
</a>
|
|
</span>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-muted">
|
|
Cytogenetic location:
|
|
|
|
|
|
|
|
<span class="mim-font">
|
|
<a href="/geneMap/17/176?start=-3&limit=10&highlight=176">
|
|
17p13.1</a></span>
|
|
|
|
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-success">Matching terms: <span class="mim-font">613988</span></span>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
|
|
<a href="#mimPhenotypeMapFold_7" id="mimPhenotypeMapToggle_7" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimPhenotypeMapToggleTriangle_7" class="mimPingletonToggleTriangle" style="color: DarkOrchid">►</span> Phenotype-Gene Relationships</span></a>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<a href="#mimPhenotypicSeriesFold_7" id="mimPhenotypicSeriesToggle_7" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'PhenotypicSeries'})"><span class="small"><span id="mimPhenotypicSeriesToggleTriangle_7" class="mimSingletonToggleTriangle" style="color: #47B7D9">►</span> Phenotypic Series</span></a>
|
|
|
|
|
|
|
|
|
|
|
|
<a href="#mimDisorderCodesFold_7" id="mimDisorderCodesToggle_7" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'ICD+'})"><span class="small"><span id="mimDisorderCodesToggleTriangle_7" class="mimSingletonToggleTriangle" style="color: DarkRed">►</span> ICD+</span></a>
|
|
|
|
|
|
|
|
<a href="#mimLinksFold_7" id="mimLinksToggle_7" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'Links'})"><span class="small"><span id="mimLinksToggleTriangle_7" class="mimSingletonToggleTriangle" style="color: #337CB5">►</span> Links</span></a>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypeMapFold_7" class="well well-sm collapse mimSingletonToggleFold">
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<caption>
|
|
Phenotype-Gene Relationships
|
|
</caption>
|
|
<thead>
|
|
<tr>
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/17/176?start=-3&limit=10&highlight=176">
|
|
17p13.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Dyskeratosis congenita, autosomal recessive 3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613988"> 613988 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
WRAP53
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612661"> 612661 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypeMapFold_7" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold_7" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Dyskeratosis congenita
|
|
- <a href="/phenotypicSeries/PS127550">PS127550</a>
|
|
- 16 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/936?start=-3&limit=10&highlight=936"> 1p13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620133"> Dyskeratosis congenita, autosomal recessive 8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620133"> 620133 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609683"> DCLRE1B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609683"> 609683 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/848?start=-3&limit=10&highlight=848"> 3q26.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/127550"> Dyskeratosis congenita, autosomal dominant 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/127550"> 127550 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602322"> TERC </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602322"> 602322 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/22?start=-3&limit=10&highlight=22"> 5p15.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613989"> Dyskeratosis congenita, autosomal dominant 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613989"> 613989 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/187270"> TERT </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/187270"> 187270 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/22?start=-3&limit=10&highlight=22"> 5p15.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613989"> Dyskeratosis congenita, autosomal recessive 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613989"> 613989 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/187270"> TERT </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/187270"> 187270 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/820?start=-3&limit=10&highlight=820"> 5q35.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613987"> Dyskeratosis congenita, autosomal recessive 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613987"> 613987 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606470"> NHP2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606470"> 606470 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/124?start=-3&limit=10&highlight=124"> 14q12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/268130"> Revesz syndrome </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/268130"> 268130 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604319"> TINF2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604319"> 604319 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/124?start=-3&limit=10&highlight=124"> 14q12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613990"> Dyskeratosis congenita, autosomal dominant 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613990"> 613990 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604319"> TINF2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604319"> 604319 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/72?start=-3&limit=10&highlight=72"> 15q14 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/224230"> ?Dyskeratosis congenita, autosomal recessive 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/224230"> 224230 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606471"> NOP10 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606471"> 606471 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/209?start=-3&limit=10&highlight=209"> 16p13.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616353"> Dyskeratosis congenita, autosomal recessive 6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616353"> 616353 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604212"> PARN </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604212"> 604212 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/554?start=-3&limit=10&highlight=554"> 16q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616553"> ?Dyskeratosis congenita, autosomal dominant 6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616553"> 616553 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609377"> ACD </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609377"> 609377 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/554?start=-3&limit=10&highlight=554"> 16q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616553"> ?Dyskeratosis congenita, autosomal recessive 7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616553"> 616553 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609377"> ACD </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609377"> 609377 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/176?start=-3&limit=10&highlight=176"> 17p13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613988"> Dyskeratosis congenita, autosomal recessive 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613988"> 613988 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612661"> WRAP53 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612661"> 612661 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/18/18?start=-3&limit=10&highlight=18"> 18p11.32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620040"> Dyskeratosis congenita, digenic </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Digenic dominant">DD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620040"> 620040 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188350"> TYMS </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188350"> 188350 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/478?start=-3&limit=10&highlight=478"> 20q13.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615190"> Dyskeratosis congenita, autosomal recessive 5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615190"> 615190 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608833"> RTEL1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608833"> 608833 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/478?start=-3&limit=10&highlight=478"> 20q13.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615190"> Dyskeratosis congenita, autosomal dominant 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615190"> 615190 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608833"> RTEL1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608833"> 608833 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/876?start=-3&limit=10&highlight=876"> Xq28 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/305000"> Dyskeratosis congenita, X-linked </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/305000"> 305000 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300126"> DKC1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300126"> 300126 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold_7" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimLinksFold_7" class="well well-sm collapse mimSingletonToggleFold">
|
|
<table class="table table-condensed small mim-table-padding ">
|
|
<caption>
|
|
Links
|
|
</caption>
|
|
<tbody>
|
|
<tr>
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Testing</dt>
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=613988[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=477&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></dd>
|
|
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Clinical Resources</dt>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://clinicaltrials.gov/search?cond=DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=477&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/books/NBK22301/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.diseaseinfosearch.org/x/8284" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=613988[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1775" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Animal Models</dt>
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.alliancegenome.org/disease/DOID:0070019" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="http://www.informatics.jax.org/disease/613988" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://wormbase.org/resources/disease/DOID:0070019" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
</tbody>
|
|
</table>
|
|
<div class="text-right small">
|
|
<a href="#mimLinksFold_7" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimDisorderCodesFold_7" class="well well-sm collapse mimSingletonToggleFold">
|
|
<table class="table table-condensed small mim-table-padding">
|
|
<caption>
|
|
ICD+
|
|
</caption>
|
|
<tbody>
|
|
<tr>
|
|
<td>
|
|
<dl>
|
|
|
|
|
|
|
|
|
|
<dd>ORPHA: 1775</dd>
|
|
|
|
|
|
<dd>DO: 0070019</dd>
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
</tr>
|
|
</tbody>
|
|
</table>
|
|
<div class="text-right small">
|
|
<a href="#mimDisorderCodesFold_7" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
|
|
8:
|
|
</div>
|
|
|
|
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
|
|
|
|
<span class="mim-result-font">
|
|
<a href="/entry/613989?search=127550%20179835%20187270%20224230%20268130%20300126%20305000%20602322%20604212%20604319%20606470%20606471%20606478%20608833%20609377%20612199%20612661%20613128%20613129%20613987%20613988%20613989%20613990%20615190%20616353%20616381%20616553%20617341%20617868%20618674%20619767%20620365&highlight=187270%2C300126%2C608833%2C612199%2C613128%2C613129%2C613987%2C613988%2C613989%2C613990">
|
|
<span class="mim-tip-hint" title="Phenotype description, molecular basis known">
|
|
<span class="text-danger"><strong>#</strong></span>
|
|
613989.
|
|
</span>
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2
|
|
</a>
|
|
</span>
|
|
|
|
|
|
<br />
|
|
<span class="mim-font">DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4, INCLUDED; DKCB4, INCLUDED</span>
|
|
|
|
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-muted">
|
|
Cytogenetic locations:
|
|
|
|
|
|
|
|
<span class="mim-font">
|
|
<a href="/geneMap/5/22?start=-3&limit=10&highlight=22">
|
|
5p15.33</a></span>,
|
|
|
|
|
|
|
|
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-success">Matching terms: <span class="mim-font">613989</span></span>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
|
|
<a href="#mimPhenotypeMapFold_8" id="mimPhenotypeMapToggle_8" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimPhenotypeMapToggleTriangle_8" class="mimPingletonToggleTriangle" style="color: DarkOrchid">►</span> Phenotype-Gene Relationships</span></a>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<a href="#mimPhenotypicSeriesFold_8" id="mimPhenotypicSeriesToggle_8" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'PhenotypicSeries'})"><span class="small"><span id="mimPhenotypicSeriesToggleTriangle_8" class="mimSingletonToggleTriangle" style="color: #47B7D9">►</span> Phenotypic Series</span></a>
|
|
|
|
|
|
|
|
|
|
|
|
<a href="#mimDisorderCodesFold_8" id="mimDisorderCodesToggle_8" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'ICD+'})"><span class="small"><span id="mimDisorderCodesToggleTriangle_8" class="mimSingletonToggleTriangle" style="color: DarkRed">►</span> ICD+</span></a>
|
|
|
|
|
|
|
|
<a href="#mimLinksFold_8" id="mimLinksToggle_8" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'Links'})"><span class="small"><span id="mimLinksToggleTriangle_8" class="mimSingletonToggleTriangle" style="color: #337CB5">►</span> Links</span></a>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypeMapFold_8" class="well well-sm collapse mimSingletonToggleFold">
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<caption>
|
|
Phenotype-Gene Relationships
|
|
</caption>
|
|
<thead>
|
|
<tr>
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/5/22?start=-3&limit=10&highlight=22">
|
|
5p15.33
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Dyskeratosis congenita, autosomal recessive 4
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613989"> 613989 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
TERT
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/187270"> 187270 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/5/22?start=-3&limit=10&highlight=22">
|
|
5p15.33
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Dyskeratosis congenita, autosomal dominant 2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613989"> 613989 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
TERT
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/187270"> 187270 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypeMapFold_8" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold_8" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Dyskeratosis congenita
|
|
- <a href="/phenotypicSeries/PS127550">PS127550</a>
|
|
- 16 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/936?start=-3&limit=10&highlight=936"> 1p13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620133"> Dyskeratosis congenita, autosomal recessive 8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620133"> 620133 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609683"> DCLRE1B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609683"> 609683 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/848?start=-3&limit=10&highlight=848"> 3q26.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/127550"> Dyskeratosis congenita, autosomal dominant 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/127550"> 127550 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602322"> TERC </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602322"> 602322 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/22?start=-3&limit=10&highlight=22"> 5p15.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613989"> Dyskeratosis congenita, autosomal dominant 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613989"> 613989 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/187270"> TERT </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/187270"> 187270 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/22?start=-3&limit=10&highlight=22"> 5p15.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613989"> Dyskeratosis congenita, autosomal recessive 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613989"> 613989 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/187270"> TERT </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/187270"> 187270 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/820?start=-3&limit=10&highlight=820"> 5q35.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613987"> Dyskeratosis congenita, autosomal recessive 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613987"> 613987 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606470"> NHP2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606470"> 606470 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/124?start=-3&limit=10&highlight=124"> 14q12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/268130"> Revesz syndrome </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/268130"> 268130 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604319"> TINF2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604319"> 604319 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/124?start=-3&limit=10&highlight=124"> 14q12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613990"> Dyskeratosis congenita, autosomal dominant 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613990"> 613990 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604319"> TINF2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604319"> 604319 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/72?start=-3&limit=10&highlight=72"> 15q14 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/224230"> ?Dyskeratosis congenita, autosomal recessive 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/224230"> 224230 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606471"> NOP10 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606471"> 606471 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/209?start=-3&limit=10&highlight=209"> 16p13.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616353"> Dyskeratosis congenita, autosomal recessive 6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616353"> 616353 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604212"> PARN </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604212"> 604212 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/554?start=-3&limit=10&highlight=554"> 16q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616553"> ?Dyskeratosis congenita, autosomal dominant 6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616553"> 616553 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609377"> ACD </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609377"> 609377 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/554?start=-3&limit=10&highlight=554"> 16q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616553"> ?Dyskeratosis congenita, autosomal recessive 7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616553"> 616553 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609377"> ACD </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609377"> 609377 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/176?start=-3&limit=10&highlight=176"> 17p13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613988"> Dyskeratosis congenita, autosomal recessive 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613988"> 613988 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612661"> WRAP53 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612661"> 612661 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/18/18?start=-3&limit=10&highlight=18"> 18p11.32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620040"> Dyskeratosis congenita, digenic </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Digenic dominant">DD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620040"> 620040 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188350"> TYMS </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188350"> 188350 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/478?start=-3&limit=10&highlight=478"> 20q13.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615190"> Dyskeratosis congenita, autosomal recessive 5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615190"> 615190 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608833"> RTEL1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608833"> 608833 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/478?start=-3&limit=10&highlight=478"> 20q13.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615190"> Dyskeratosis congenita, autosomal dominant 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615190"> 615190 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608833"> RTEL1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608833"> 608833 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/876?start=-3&limit=10&highlight=876"> Xq28 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/305000"> Dyskeratosis congenita, X-linked </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/305000"> 305000 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300126"> DKC1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300126"> 300126 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold_8" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimLinksFold_8" class="well well-sm collapse mimSingletonToggleFold">
|
|
<table class="table table-condensed small mim-table-padding ">
|
|
<caption>
|
|
Links
|
|
</caption>
|
|
<tbody>
|
|
<tr>
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Testing</dt>
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=613989[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd>EuroGentest</dd>
|
|
<dd style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=477&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Dyskeratosis congenita </a></dd><dd style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2949&Typ=Pat" title="Hoyeraal-Hreidarsson syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Hoyeraal-Hreidarsson syndr… </a></dd>
|
|
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Clinical Resources</dt>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://clinicaltrials.gov/search?cond=DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd>EuroGentest</dd>
|
|
<dd style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=477&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Dyskeratosis congenita </a></dd><dd style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2949&Typ=Pat" title="Hoyeraal-Hreidarsson syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Hoyeraal-Hreidarsson syndr… </a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/books/NBK22301/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.diseaseinfosearch.org/x/8281" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=613989[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd>OrphaNet</dd>
|
|
<dd style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1775" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Dyskeratosis congenita</a></dd><dd style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3322" title="Hoyeraal-Hreidarsson syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Hoyeraal-Hreidarsson syndr…</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Animal Models</dt>
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.alliancegenome.org/disease/DOID:0070016" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="http://www.informatics.jax.org/disease/613989" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://wormbase.org/resources/disease/DOID:0070016" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
</tbody>
|
|
</table>
|
|
<div class="text-right small">
|
|
<a href="#mimLinksFold_8" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimDisorderCodesFold_8" class="well well-sm collapse mimSingletonToggleFold">
|
|
<table class="table table-condensed small mim-table-padding">
|
|
<caption>
|
|
ICD+
|
|
</caption>
|
|
<tbody>
|
|
<tr>
|
|
<td>
|
|
<dl>
|
|
|
|
|
|
|
|
|
|
<dd>ORPHA: 1775, 3322</dd>
|
|
|
|
|
|
<dd>DO: 0070016</dd>
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
</tr>
|
|
</tbody>
|
|
</table>
|
|
<div class="text-right small">
|
|
<a href="#mimDisorderCodesFold_8" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
|
|
9:
|
|
</div>
|
|
|
|
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
|
|
|
|
<span class="mim-result-font">
|
|
<a href="/entry/613990?search=127550%20179835%20187270%20224230%20268130%20300126%20305000%20602322%20604212%20604319%20606470%20606471%20606478%20608833%20609377%20612199%20612661%20613128%20613129%20613987%20613988%20613989%20613990%20615190%20616353%20616381%20616553%20617341%20617868%20618674%20619767%20620365&highlight=187270%2C300126%2C608833%2C612199%2C613128%2C613129%2C613987%2C613988%2C613989%2C613990">
|
|
<span class="mim-tip-hint" title="Phenotype description, molecular basis known">
|
|
<span class="text-danger"><strong>#</strong></span>
|
|
613990.
|
|
</span>
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3
|
|
</a>
|
|
</span>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-muted">
|
|
Cytogenetic location:
|
|
|
|
|
|
|
|
<span class="mim-font">
|
|
<a href="/geneMap/14/124?start=-3&limit=10&highlight=124">
|
|
14q12</a></span>
|
|
|
|
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-success">Matching terms: <span class="mim-font">613990</span></span>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
|
|
<a href="#mimPhenotypeMapFold_9" id="mimPhenotypeMapToggle_9" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimPhenotypeMapToggleTriangle_9" class="mimPingletonToggleTriangle" style="color: DarkOrchid">►</span> Phenotype-Gene Relationships</span></a>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<a href="#mimPhenotypicSeriesFold_9" id="mimPhenotypicSeriesToggle_9" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'PhenotypicSeries'})"><span class="small"><span id="mimPhenotypicSeriesToggleTriangle_9" class="mimSingletonToggleTriangle" style="color: #47B7D9">►</span> Phenotypic Series</span></a>
|
|
|
|
|
|
|
|
|
|
|
|
<a href="#mimDisorderCodesFold_9" id="mimDisorderCodesToggle_9" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'ICD+'})"><span class="small"><span id="mimDisorderCodesToggleTriangle_9" class="mimSingletonToggleTriangle" style="color: DarkRed">►</span> ICD+</span></a>
|
|
|
|
|
|
|
|
<a href="#mimLinksFold_9" id="mimLinksToggle_9" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'Links'})"><span class="small"><span id="mimLinksToggleTriangle_9" class="mimSingletonToggleTriangle" style="color: #337CB5">►</span> Links</span></a>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypeMapFold_9" class="well well-sm collapse mimSingletonToggleFold">
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<caption>
|
|
Phenotype-Gene Relationships
|
|
</caption>
|
|
<thead>
|
|
<tr>
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/14/124?start=-3&limit=10&highlight=124">
|
|
14q12
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Dyskeratosis congenita, autosomal dominant 3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613990"> 613990 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
TINF2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604319"> 604319 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypeMapFold_9" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold_9" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Dyskeratosis congenita
|
|
- <a href="/phenotypicSeries/PS127550">PS127550</a>
|
|
- 16 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/936?start=-3&limit=10&highlight=936"> 1p13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620133"> Dyskeratosis congenita, autosomal recessive 8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620133"> 620133 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609683"> DCLRE1B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609683"> 609683 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/848?start=-3&limit=10&highlight=848"> 3q26.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/127550"> Dyskeratosis congenita, autosomal dominant 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/127550"> 127550 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602322"> TERC </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602322"> 602322 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/22?start=-3&limit=10&highlight=22"> 5p15.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613989"> Dyskeratosis congenita, autosomal dominant 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613989"> 613989 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/187270"> TERT </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/187270"> 187270 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/22?start=-3&limit=10&highlight=22"> 5p15.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613989"> Dyskeratosis congenita, autosomal recessive 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613989"> 613989 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/187270"> TERT </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/187270"> 187270 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/820?start=-3&limit=10&highlight=820"> 5q35.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613987"> Dyskeratosis congenita, autosomal recessive 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613987"> 613987 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606470"> NHP2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606470"> 606470 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/124?start=-3&limit=10&highlight=124"> 14q12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/268130"> Revesz syndrome </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/268130"> 268130 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604319"> TINF2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604319"> 604319 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/124?start=-3&limit=10&highlight=124"> 14q12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613990"> Dyskeratosis congenita, autosomal dominant 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613990"> 613990 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604319"> TINF2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604319"> 604319 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/72?start=-3&limit=10&highlight=72"> 15q14 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/224230"> ?Dyskeratosis congenita, autosomal recessive 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/224230"> 224230 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606471"> NOP10 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606471"> 606471 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/209?start=-3&limit=10&highlight=209"> 16p13.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616353"> Dyskeratosis congenita, autosomal recessive 6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616353"> 616353 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604212"> PARN </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604212"> 604212 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/554?start=-3&limit=10&highlight=554"> 16q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616553"> ?Dyskeratosis congenita, autosomal dominant 6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616553"> 616553 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609377"> ACD </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609377"> 609377 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/554?start=-3&limit=10&highlight=554"> 16q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616553"> ?Dyskeratosis congenita, autosomal recessive 7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616553"> 616553 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609377"> ACD </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609377"> 609377 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/176?start=-3&limit=10&highlight=176"> 17p13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613988"> Dyskeratosis congenita, autosomal recessive 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613988"> 613988 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612661"> WRAP53 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612661"> 612661 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/18/18?start=-3&limit=10&highlight=18"> 18p11.32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620040"> Dyskeratosis congenita, digenic </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Digenic dominant">DD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620040"> 620040 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188350"> TYMS </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188350"> 188350 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/478?start=-3&limit=10&highlight=478"> 20q13.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615190"> Dyskeratosis congenita, autosomal recessive 5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615190"> 615190 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608833"> RTEL1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608833"> 608833 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/478?start=-3&limit=10&highlight=478"> 20q13.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615190"> Dyskeratosis congenita, autosomal dominant 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615190"> 615190 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608833"> RTEL1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608833"> 608833 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/876?start=-3&limit=10&highlight=876"> Xq28 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/305000"> Dyskeratosis congenita, X-linked </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/305000"> 305000 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300126"> DKC1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300126"> 300126 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold_9" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimLinksFold_9" class="well well-sm collapse mimSingletonToggleFold">
|
|
<table class="table table-condensed small mim-table-padding ">
|
|
<caption>
|
|
Links
|
|
</caption>
|
|
<tbody>
|
|
<tr>
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Testing</dt>
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=613990[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd>EuroGentest</dd>
|
|
<dd style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=477&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Dyskeratosis congenita </a></dd><dd style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2949&Typ=Pat" title="Hoyeraal-Hreidarsson syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Hoyeraal-Hreidarsson syndr… </a></dd>
|
|
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Clinical Resources</dt>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://clinicaltrials.gov/search?cond=DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd>EuroGentest</dd>
|
|
<dd style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=477&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Dyskeratosis congenita </a></dd><dd style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2949&Typ=Pat" title="Hoyeraal-Hreidarsson syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Hoyeraal-Hreidarsson syndr… </a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/books/NBK22301/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.diseaseinfosearch.org/x/8282" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=613990[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd>OrphaNet</dd>
|
|
<dd style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1775" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Dyskeratosis congenita</a></dd><dd style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3322" title="Hoyeraal-Hreidarsson syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Hoyeraal-Hreidarsson syndr…</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Animal Models</dt>
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.alliancegenome.org/disease/DOID:0070018" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="http://www.informatics.jax.org/disease/613990" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
</tbody>
|
|
</table>
|
|
<div class="text-right small">
|
|
<a href="#mimLinksFold_9" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimDisorderCodesFold_9" class="well well-sm collapse mimSingletonToggleFold">
|
|
<table class="table table-condensed small mim-table-padding">
|
|
<caption>
|
|
ICD+
|
|
</caption>
|
|
<tbody>
|
|
<tr>
|
|
<td>
|
|
<dl>
|
|
|
|
|
|
|
|
|
|
<dd>ORPHA: 1775, 3322</dd>
|
|
|
|
|
|
<dd>DO: 0070018</dd>
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
</tr>
|
|
</tbody>
|
|
</table>
|
|
<div class="text-right small">
|
|
<a href="#mimDisorderCodesFold_9" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
|
|
10:
|
|
</div>
|
|
|
|
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
|
|
|
|
<span class="mim-result-font">
|
|
<a href="/entry/612199?search=127550%20179835%20187270%20224230%20268130%20300126%20305000%20602322%20604212%20604319%20606470%20606471%20606478%20608833%20609377%20612199%20612661%20613128%20613129%20613987%20613988%20613989%20613990%20615190%20616353%20616381%20616553%20617341%20617868%20618674%20619767%20620365&highlight=187270%2C300126%2C608833%2C612199%2C613128%2C613129%2C613987%2C613988%2C613989%2C613990">
|
|
<span class="mim-tip-hint" title="Phenotype description, molecular basis known">
|
|
<span class="text-danger"><strong>#</strong></span>
|
|
612199.
|
|
</span>
|
|
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1; CRMCC1
|
|
</a>
|
|
</span>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-muted">
|
|
Cytogenetic location:
|
|
|
|
|
|
|
|
<span class="mim-font">
|
|
<a href="/geneMap/17/202?start=-3&limit=10&highlight=202">
|
|
17p13.1</a></span>
|
|
|
|
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-success">Matching terms: <span class="mim-font">612199</span></span>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
|
|
<a href="#mimPhenotypeMapFold_10" id="mimPhenotypeMapToggle_10" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimPhenotypeMapToggleTriangle_10" class="mimPingletonToggleTriangle" style="color: DarkOrchid">►</span> Phenotype-Gene Relationships</span></a>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<a href="#mimPhenotypicSeriesFold_10" id="mimPhenotypicSeriesToggle_10" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'PhenotypicSeries'})"><span class="small"><span id="mimPhenotypicSeriesToggleTriangle_10" class="mimSingletonToggleTriangle" style="color: #47B7D9">►</span> Phenotypic Series</span></a>
|
|
|
|
|
|
|
|
|
|
|
|
<a href="#mimDisorderCodesFold_10" id="mimDisorderCodesToggle_10" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'ICD+'})"><span class="small"><span id="mimDisorderCodesToggleTriangle_10" class="mimSingletonToggleTriangle" style="color: DarkRed">►</span> ICD+</span></a>
|
|
|
|
|
|
|
|
<a href="#mimLinksFold_10" id="mimLinksToggle_10" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'Links'})"><span class="small"><span id="mimLinksToggleTriangle_10" class="mimSingletonToggleTriangle" style="color: #337CB5">►</span> Links</span></a>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypeMapFold_10" class="well well-sm collapse mimSingletonToggleFold">
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<caption>
|
|
Phenotype-Gene Relationships
|
|
</caption>
|
|
<thead>
|
|
<tr>
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/17/202?start=-3&limit=10&highlight=202">
|
|
17p13.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Cerebroretinal microangiopathy with calcifications and cysts
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612199"> 612199 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
CTC1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613129"> 613129 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypeMapFold_10" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold_10" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Cerebroretinal microangiopathy with calcfications and cysts
|
|
- <a href="/phenotypicSeries/PS612199">PS612199</a>
|
|
- 3 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/635?start=-3&limit=10&highlight=635"> 7q31.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620368"> ?Cerebroretinal microangiopathy with calcifications and cysts 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620368"> 620368 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606478"> POT1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606478"> 606478 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/541?start=-3&limit=10&highlight=541"> 10q24.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617341"> Cerebroretinal microangiopathy with calcifications and cysts 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617341"> 617341 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613128"> STN1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613128"> 613128 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/202?start=-3&limit=10&highlight=202"> 17p13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612199"> Cerebroretinal microangiopathy with calcifications and cysts </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612199"> 612199 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613129"> CTC1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613129"> 613129 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold_10" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimLinksFold_10" class="well well-sm collapse mimSingletonToggleFold">
|
|
<table class="table table-condensed small mim-table-padding ">
|
|
<caption>
|
|
Links
|
|
</caption>
|
|
<tbody>
|
|
<tr>
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Testing</dt>
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=612199[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=21456&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></dd>
|
|
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<td>
|
|
<dl>
|
|
<dt>Clinical Resources</dt>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://clinicaltrials.gov/search?cond=CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=21456&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/books/NBK22301/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.diseaseinfosearch.org/x/7948" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://medlineplus.gov/genetics/condition/coats-plus-syndrome" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></dd>
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=612199[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=313838" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></dd>
|
|
|
|
|
|
|
|
|
|
|
|
<dd><a href="https://www.possumcore.com/nuxeo/nxdoc/default/bba80ee6-752b-4b7a-b8c9-c677754870bd/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></dd>
|
|
|
|
</dl>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
</tbody>
|
|
</table>
|
|
<div class="text-right small">
|
|
<a href="#mimLinksFold_10" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimDisorderCodesFold_10" class="well well-sm collapse mimSingletonToggleFold">
|
|
<table class="table table-condensed small mim-table-padding">
|
|
<caption>
|
|
ICD+
|
|
</caption>
|
|
<tbody>
|
|
<tr>
|
|
<td>
|
|
<dl>
|
|
|
|
<dd>SNOMEDCT: 711482008</dd>
|
|
|
|
|
|
|
|
|
|
<dd>ORPHA: 313838</dd>
|
|
|
|
|
|
|
|
</dl>
|
|
</td>
|
|
</tr>
|
|
</tbody>
|
|
</table>
|
|
<div class="text-right small">
|
|
<a href="#mimDisorderCodesFold_10" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<br />
|
|
</div>
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12 text-center text-nowrap">
|
|
|
|
|
|
<span class="text-muted">« First</span>
|
|
|
|
|
|
|
|
|
|
|
<span class="text-muted">‹ Previous</span>
|
|
|
|
|
|
|
|
|
|
|
<a href="?index=entry&search=127550+179835+187270+224230+268130+300126+305000+602322+604212+604319+606470+606471+606478+608833+609377+612199+612661+613128+613129+613987+613988+613989+613990+615190+616353+616381+616553+617341+617868+618674+619767+620365&field=number&sort=score+desc&start=2&limit=10"> Next › </a>
|
|
|
|
|
|
|
|
|
|
|
<a href="?index=entry&search=127550+179835+187270+224230+268130+300126+305000+602322+604212+604319+606470+606471+606478+608833+609377+612199+612661+613128+613129+613987+613988+613989+613990+615190+616353+616381+616553+617341+617868+618674+619767+620365&field=number&sort=score+desc&start=4&limit=10"> Last » </a>
|
|
|
|
|
|
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="container visible-print-block">
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
Search: <span class="mim-text-font">127550 179835 187270 224230 268130 300126 305000 602322 604212 604319 606470 606471 606478 608833 609377 612199 612661 613128 613129 613987 613988 613989 613990 615190 616353 616381 616553 617341 617868 618674 619767 620365 (Search in: MIM number)</span>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row">
|
|
<div class="col-lg-3 col-md-3 col-sm-3 col-xs-3">
|
|
Results: 32 entries.
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
|
|
1:
|
|
</div>
|
|
|
|
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
|
|
|
|
<span class="mim-result-font">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
187270.
|
|
TELOMERASE REVERSE TRANSCRIPTASE; TERT
|
|
</span>
|
|
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-muted">
|
|
Cytogenetic location: <span class="mim-font">5p15.33</span>,
|
|
Genomic coordinates <span class="small">(GRCh38)</span>: <span class="mim-font">5:1,253,167-1,295,068</span>
|
|
</span>
|
|
|
|
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-success">Matching terms: <span class="mim-font">187270</span></span>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
|
|
2:
|
|
</div>
|
|
|
|
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
|
|
|
|
<span class="mim-result-font">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
300126.
|
|
DYSKERIN; DKC1
|
|
</span>
|
|
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-muted">
|
|
Cytogenetic location: <span class="mim-font">Xq28</span>,
|
|
Genomic coordinates <span class="small">(GRCh38)</span>: <span class="mim-font">X:154,762,864-154,777,689</span>
|
|
</span>
|
|
|
|
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-success">Matching terms: <span class="mim-font">300126</span></span>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
|
|
3:
|
|
</div>
|
|
|
|
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
|
|
|
|
<span class="mim-result-font">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
608833.
|
|
REGULATOR OF TELOMERE ELONGATION HELICASE 1; RTEL1
|
|
</span>
|
|
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-muted">
|
|
Cytogenetic location: <span class="mim-font">20q13.33</span>,
|
|
Genomic coordinates <span class="small">(GRCh38)</span>: <span class="mim-font">20:63,657,810-63,696,253</span>
|
|
</span>
|
|
|
|
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-success">Matching terms: <span class="mim-font">608833</span></span>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
|
|
4:
|
|
</div>
|
|
|
|
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
|
|
|
|
<span class="mim-result-font">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
613128.
|
|
STN1, CST COMPLEX SUBUNIT; STN1
|
|
</span>
|
|
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-muted">
|
|
Cytogenetic location: <span class="mim-font">10q24.33</span>,
|
|
Genomic coordinates <span class="small">(GRCh38)</span>: <span class="mim-font">10:103,877,569-103,918,184</span>
|
|
</span>
|
|
|
|
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-success">Matching terms: <span class="mim-font">613128</span></span>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
|
|
5:
|
|
</div>
|
|
|
|
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
|
|
|
|
<span class="mim-result-font">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
613129.
|
|
CONSERVED TELOMERE MAINTENANCE COMPONENT 1; CTC1
|
|
</span>
|
|
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-muted">
|
|
Cytogenetic location: <span class="mim-font">17p13.1</span>,
|
|
Genomic coordinates <span class="small">(GRCh38)</span>: <span class="mim-font">17:8,224,815-8,248,056</span>
|
|
</span>
|
|
|
|
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-success">Matching terms: <span class="mim-font">613129</span></span>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
|
|
6:
|
|
</div>
|
|
|
|
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
|
|
|
|
<span class="mim-result-font">
|
|
<span class="text-danger"><strong>#</strong></span>
|
|
613987.
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2; DKCB2
|
|
</span>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-muted">
|
|
Cytogenetic location:
|
|
|
|
|
|
|
|
<span class="mim-font">5q35.3</a></span>
|
|
|
|
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-success">Matching terms: <span class="mim-font">613987</span></span>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
|
|
7:
|
|
</div>
|
|
|
|
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
|
|
|
|
<span class="mim-result-font">
|
|
<span class="text-danger"><strong>#</strong></span>
|
|
613988.
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3; DKCB3
|
|
</span>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-muted">
|
|
Cytogenetic location:
|
|
|
|
|
|
|
|
<span class="mim-font">17p13.1</a></span>
|
|
|
|
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-success">Matching terms: <span class="mim-font">613988</span></span>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
|
|
8:
|
|
</div>
|
|
|
|
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
|
|
|
|
<span class="mim-result-font">
|
|
<span class="text-danger"><strong>#</strong></span>
|
|
613989.
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2
|
|
</span>
|
|
|
|
|
|
<br />
|
|
<span class="mim-font">DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4, INCLUDED; DKCB4, INCLUDED</span>
|
|
|
|
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-muted">
|
|
Cytogenetic locations:
|
|
|
|
|
|
|
|
<span class="mim-font">5p15.33</a></span>,
|
|
|
|
|
|
|
|
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-success">Matching terms: <span class="mim-font">613989</span></span>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
|
|
9:
|
|
</div>
|
|
|
|
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
|
|
|
|
<span class="mim-result-font">
|
|
<span class="text-danger"><strong>#</strong></span>
|
|
613990.
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3
|
|
</span>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-muted">
|
|
Cytogenetic location:
|
|
|
|
|
|
|
|
<span class="mim-font">14q12</a></span>
|
|
|
|
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-success">Matching terms: <span class="mim-font">613990</span></span>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
|
|
10:
|
|
</div>
|
|
|
|
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
|
|
|
|
<span class="mim-result-font">
|
|
<span class="text-danger"><strong>#</strong></span>
|
|
612199.
|
|
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1; CRMCC1
|
|
</span>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-muted">
|
|
Cytogenetic location:
|
|
|
|
|
|
|
|
<span class="mim-font">17p13.1</a></span>
|
|
|
|
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<br />
|
|
<span class="text-success">Matching terms: <span class="mim-font">612199</span></span>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div id="mimFooter">
|
|
|
|
|
|
<div class="container ">
|
|
<div class="row">
|
|
<br />
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="hidden-print mim-footer">
|
|
<div class="container">
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
<div class="row text-center small">
|
|
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
|
|
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
|
|
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
|
|
<br />
|
|
OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
|
|
<br />
|
|
Copyright<sup>®</sup> 1966-2025 Johns Hopkins University.
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="visible-print-block mim-footer" style="position: relative;">
|
|
<div class="container">
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
<div class="row text-center small">
|
|
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
|
|
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
|
|
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
|
|
<br />
|
|
OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
|
|
<br />
|
|
Copyright<sup>®</sup> 1966-2025 Johns Hopkins University.
|
|
<br />
|
|
Printed: March 5, 2025
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="modal fade" id="mimDonationPopupModal" tabindex="-1" role="dialog" aria-labelledby="mimDonationPopupModalTitle">
|
|
<div class="modal-dialog" role="document">
|
|
<div class="modal-content">
|
|
<div class="modal-header">
|
|
<button type="button" id="mimDonationPopupCancel" class="close" data-dismiss="modal" aria-label="Close"><span aria-hidden="true">×</span></button>
|
|
<h4 class="modal-title" id="mimDonationPopupModalTitle">
|
|
OMIM Donation:
|
|
</h4>
|
|
</div>
|
|
<div class="modal-body">
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
Dear OMIM User,
|
|
</p>
|
|
</div>
|
|
</div>
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
To ensure long-term funding for the OMIM project, we have diversified
|
|
our revenue stream. We are determined to keep this website freely
|
|
accessible. Unfortunately, it is not free to produce. Expert curators
|
|
review the literature and organize it to facilitate your work. Over 90%
|
|
of the OMIM's operating expenses go to salary support for MD and PhD
|
|
science writers and biocurators. Please join your colleagues by making a
|
|
donation now and again in the future. Donations are an important
|
|
component of our efforts to ensure long-term funding to provide you the
|
|
information that you need at your fingertips.
|
|
</p>
|
|
</div>
|
|
</div>
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
Thank you in advance for your generous support, <br />
|
|
Ada Hamosh, MD, MPH <br />
|
|
Scientific Director, OMIM <br />
|
|
</p>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div class="modal-footer">
|
|
<button type="button" id="mimDonationPopupDonate" class="btn btn-success btn-block" data-dismiss="modal"> Donate To OMIM! </button>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
</body>
|
|
|
|
</html>
|
|
|
|
|