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<a href="/entry/120435?search=114500%20120435%20120436%20158320%20185535%20276300%20600259%20600678%20609309%20609310%20613244&highlight=114500%2C120435%2C120436%2C158320%2C185535%2C276300%2C600259%2C600678%2C609309%2C613244">
<span class="mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
120435.
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LYNCH SYNDROME 1; LYNCH1
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Cytogenetic location:
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2p21-p16.3</a></span>
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2p21-p16.3
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</td>
<td>
<span class="mim-font">
Lynch syndrome 1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120435"> 120435 </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">
MSH2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609309"> 609309 </a>
</span>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimPhenotypeMapFold_1" data-toggle="collapse">▲ Close</a>
</div>
</div>
<div id="mimPhenotypicSeriesFold_1" 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>
Colorectal cancer, hereditary nonpolyposis
- <a href="/phenotypicSeries/PS120435">PS120435</a>
- 7 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/2/238?start=-3&limit=10&highlight=238"> 2p21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613244"> Lynch syndrome 8 </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/613244"> 613244 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/185535"> EPCAM </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/185535"> 185535 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/239?start=-3&limit=10&highlight=239"> 2p21-p16.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120435"> Lynch syndrome 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/120435"> 120435 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609309"> MSH2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609309"> 609309 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/245?start=-3&limit=10&highlight=245"> 2p16.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614350"> Lynch syndrome 5 </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/614350"> 614350 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600678"> MSH6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600678"> 600678 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/135?start=-3&limit=10&highlight=135"> 3p24.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614331"> Colorectal cancer, hereditary nonpolyposis, type 6 </a>
</span>
</td>
<td>
<span class="mim-font">
</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/614331"> 614331 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/190182"> TGFBR2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/190182"> 190182 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/163?start=-3&limit=10&highlight=163"> 3p22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609310"> Lynch syndrome 2 </a>
</span>
</td>
<td>
<span class="mim-font">
</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/609310"> 609310 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120436"> MLH1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120436"> 120436 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/51?start=-3&limit=10&highlight=51"> 7p22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614337"> Lynch syndrome 4 </a>
</span>
</td>
<td>
<span class="mim-font">
</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/614337"> 614337 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600259"> PMS2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600259"> 600259 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/395?start=-3&limit=10&highlight=395"> 14q24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614385"> Colorectal cancer, hereditary nonpolyposis, type 7 </a>
</span>
</td>
<td>
<span class="mim-font">
</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/614385"> 614385 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604395"> MLH3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604395"> 604395 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
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<a href="#mimPhenotypicSeriesFold_1" data-toggle="collapse">▲ Close</a>
</div>
</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=120435[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=3245&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=LYNCH SYNDROME" 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=3245&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/NBK1211/" 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/1748" 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/lynch-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=120435[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=144" 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:0070271" 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/120435" 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:0070271" 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>
<td>
<dl>
<dt>Cell Lines</dt>
<dd><a href="https://catalog.coriell.org/Search?q=OmimNum:120435" 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>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimLinksFold_1" data-toggle="collapse">▲ Close</a>
</div>
</div>
<div id="mimDisorderCodesFold_1" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding">
<caption>
ICD+
</caption>
<tbody>
<tr>
<td>
<dl>
<dd>ORPHA: 144</dd>
<dd>DO: 0070271</dd>
</dl>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimDisorderCodesFold_1" data-toggle="collapse">▲ Close</a>
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<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/114500?search=114500%20120435%20120436%20158320%20185535%20276300%20600259%20600678%20609309%20609310%20613244&highlight=114500%2C120435%2C120436%2C158320%2C185535%2C276300%2C600259%2C600678%2C609309%2C613244">
<span class="mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
114500.
</span>
COLORECTAL CANCER; CRC
</a>
</span>
<br />
<span class="text-muted">
Cytogenetic locations:
<span class="mim-font">
<a href="/geneMap/1/234?start=-3&limit=10&highlight=234">
1p36.13</a></span>,
<span class="mim-font">
<a href="/geneMap/1/943?start=-3&limit=10&highlight=943">
1p13.2</a></span>,
<span class="mim-font">
<a href="/geneMap/2/558?start=-3&limit=10&highlight=558">
2q13</a></span>,
<span class="mim-font">
<a href="/geneMap/3/198?start=-3&limit=10&highlight=198">
3p22.1</a></span>,
<span class="mim-font">
<a href="/geneMap/3/876?start=-3&limit=10&highlight=876">
3q26.32</a></span>,
<span class="mim-font">
<a href="/geneMap/4/34?start=-3&limit=10&highlight=34">
4p16.3</a></span>,
<span class="mim-font">
<a href="/geneMap/4/614?start=-3&limit=10&highlight=614">
4q31.3</a></span>,
<span class="mim-font">
<a href="/geneMap/5/369?start=-3&limit=10&highlight=369">
5q22.2</a></span>,
<span class="mim-font">
<a href="/geneMap/5/373?start=-3&limit=10&highlight=373">
5q22.2</a></span>,
<span class="mim-font">
<a href="/geneMap/7/365?start=-3&limit=10&highlight=365">
7q11.23</a></span>,
<span class="mim-font">
<a href="/geneMap/7/742?start=-3&limit=10&highlight=742">
7q34</a></span>,
<span class="mim-font">
<a href="/geneMap/8/68?start=-3&limit=10&highlight=68">
8p22</a></span>,
<span class="mim-font">
<a href="/geneMap/8/79?start=-3&limit=10&highlight=79">
8p22</a></span>,
<span class="mim-font">
<a href="/geneMap/8/409?start=-3&limit=10&highlight=409">
8q22.1</a></span>,
<span class="mim-font">
<a href="/geneMap/11/375?start=-3&limit=10&highlight=375">
11p11.2</a></span>,
<span class="mim-font">
<a href="/geneMap/11/697?start=-3&limit=10&highlight=697">
11q13.3</a></span>,
<span class="mim-font">
<a href="/geneMap/14/395?start=-3&limit=10&highlight=395">
14q24.3</a></span>,
<span class="mim-font">
<a href="/geneMap/14/593?start=-3&limit=10&highlight=593">
14q32.33</a></span>,
<span class="mim-font">
<a href="/geneMap/15/93?start=-3&limit=10&highlight=93">
15q15.1</a></span>,
<span class="mim-font">
<a href="/geneMap/17/175?start=-3&limit=10&highlight=175">
17p13.1</a></span>,
<span class="mim-font">
<a href="/geneMap/17/264?start=-3&limit=10&highlight=264">
17p11.2</a></span>,
<span class="mim-font">
<a href="/geneMap/17/864?start=-3&limit=10&highlight=864">
17q24.1</a></span>,
<span class="mim-font">
<a href="/geneMap/18/191?start=-3&limit=10&highlight=191">
18q21.2</a></span>,
<span class="mim-font">
<a href="/geneMap/19/919?start=-3&limit=10&highlight=919">
19q13.33</a></span>,
<span class="mim-font">
<a href="/geneMap/20/268?start=-3&limit=10&highlight=268">
20q11.23</a></span>,
<span class="mim-font">
<a href="/geneMap/20/406?start=-3&limit=10&highlight=406">
20q13.2</a></span>,
<span class="mim-font">
<a href="/geneMap/22/315?start=-3&limit=10&highlight=315">
22q13.2</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">114500</span></span>
<br />
<a href="#mimPhenotypeMapFold_2" id="mimPhenotypeMapToggle_2" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimPhenotypeMapToggleTriangle_2" class="mimPingletonToggleTriangle" style="color: DarkOrchid">►</span> Phenotype-Gene 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="mimPhenotypeMapFold_2" 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/1/234?start=-3&limit=10&highlight=234">
1p36.13
</a>
</span>
</td>
<td>
<span class="mim-font">
{?Colorectal cancer, susceptibility to}
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114500"> 114500 </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>
<td>
<span class="mim-font">
PLA2G2A
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/172411"> 172411 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/943?start=-3&limit=10&highlight=943">
1p13.2
</a>
</span>
</td>
<td>
<span class="mim-font">
Colorectal cancer, somatic
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114500"> 114500 </a>
</span>
</td>
<td>
<span class="mim-font">
</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">
NRAS
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/164790"> 164790 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/558?start=-3&limit=10&highlight=558">
2q13
</a>
</span>
</td>
<td>
<span class="mim-font">
Colorectal cancer with chromosomal instability, somatic
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114500"> 114500 </a>
</span>
</td>
<td>
<span class="mim-font">
</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">
BUB1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602452"> 602452 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/198?start=-3&limit=10&highlight=198">
3p22.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Colorectal cancer, somatic
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114500"> 114500 </a>
</span>
</td>
<td>
<span class="mim-font">
</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">
CTNNB1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/116806"> 116806 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/876?start=-3&limit=10&highlight=876">
3q26.32
</a>
</span>
</td>
<td>
<span class="mim-font">
Colorectal cancer, somatic
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114500"> 114500 </a>
</span>
</td>
<td>
<span class="mim-font">
</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">
PIK3CA
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/171834"> 171834 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/34?start=-3&limit=10&highlight=34">
4p16.3
</a>
</span>
</td>
<td>
<span class="mim-font">
Colorectal cancer, somatic
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114500"> 114500 </a>
</span>
</td>
<td>
<span class="mim-font">
</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">
FGFR3
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/134934"> 134934 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/614?start=-3&limit=10&highlight=614">
4q31.3
</a>
</span>
</td>
<td>
<span class="mim-font">
{Colorectal cancer, susceptibility to}
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114500"> 114500 </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>
<td>
<span class="mim-font">
TLR2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603028"> 603028 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/369?start=-3&limit=10&highlight=369">
5q22.2
</a>
</span>
</td>
<td>
<span class="mim-font">
Colorectal cancer, somatic
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114500"> 114500 </a>
</span>
</td>
<td>
<span class="mim-font">
</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">
APC
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611731"> 611731 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/373?start=-3&limit=10&highlight=373">
5q22.2
</a>
</span>
</td>
<td>
<span class="mim-font">
Colorectal cancer, somatic
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114500"> 114500 </a>
</span>
</td>
<td>
<span class="mim-font">
</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">
MCC
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159350"> 159350 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/365?start=-3&limit=10&highlight=365">
7q11.23
</a>
</span>
</td>
<td>
<span class="mim-font">
Colon cancer, somatic
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114500"> 114500 </a>
</span>
</td>
<td>
<span class="mim-font">
</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">
PTPN12
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600079"> 600079 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/742?start=-3&limit=10&highlight=742">
7q34
</a>
</span>
</td>
<td>
<span class="mim-font">
Colorectal cancer, somatic
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114500"> 114500 </a>
</span>
</td>
<td>
<span class="mim-font">
</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">
BRAF
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/164757"> 164757 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/68?start=-3&limit=10&highlight=68">
8p22
</a>
</span>
</td>
<td>
<span class="mim-font">
Colorectal cancer, somatic
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114500"> 114500 </a>
</span>
</td>
<td>
<span class="mim-font">
</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">
DLC1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604258"> 604258 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/79?start=-3&limit=10&highlight=79">
8p22
</a>
</span>
</td>
<td>
<span class="mim-font">
Colorectal cancer, somatic
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114500"> 114500 </a>
</span>
</td>
<td>
<span class="mim-font">
</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">
PDGFRL
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604584"> 604584 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/409?start=-3&limit=10&highlight=409">
8q22.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Colon cancer, somatic
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114500"> 114500 </a>
</span>
</td>
<td>
<span class="mim-font">
</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">
RAD54B
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604289"> 604289 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/375?start=-3&limit=10&highlight=375">
11p11.2
</a>
</span>
</td>
<td>
<span class="mim-font">
Colon cancer, somatic
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114500"> 114500 </a>
</span>
</td>
<td>
<span class="mim-font">
</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">
PTPRJ
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600925"> 600925 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/697?start=-3&limit=10&highlight=697">
11q13.3
</a>
</span>
</td>
<td>
<span class="mim-font">
{Colorectal cancer, susceptibility to}
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114500"> 114500 </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>
<td>
<span class="mim-font">
CCND1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/168461"> 168461 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/395?start=-3&limit=10&highlight=395">
14q24.3
</a>
</span>
</td>
<td>
<span class="mim-font">
Colorectal cancer, somatic
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114500"> 114500 </a>
</span>
</td>
<td>
<span class="mim-font">
</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">
MLH3
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604395"> 604395 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/593?start=-3&limit=10&highlight=593">
14q32.33
</a>
</span>
</td>
<td>
<span class="mim-font">
Colorectal cancer, somatic
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114500"> 114500 </a>
</span>
</td>
<td>
<span class="mim-font">
</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">
AKT1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/164730"> 164730 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/93?start=-3&limit=10&highlight=93">
15q15.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Colorectal cancer, somatic
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114500"> 114500 </a>
</span>
</td>
<td>
<span class="mim-font">
</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">
BUB1B
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602860"> 602860 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/175?start=-3&limit=10&highlight=175">
17p13.1
</a>
</span>
</td>
<td>
<span class="mim-font">
{Colorectal cancer}
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114500"> 114500 </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>
<td>
<span class="mim-font">
TP53
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191170"> 191170 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/264?start=-3&limit=10&highlight=264">
17p11.2
</a>
</span>
</td>
<td>
<span class="mim-font">
Colorectal cancer, somatic
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114500"> 114500 </a>
</span>
</td>
<td>
<span class="mim-font">
</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">
FLCN
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607273"> 607273 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/864?start=-3&limit=10&highlight=864">
17q24.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Colorectal cancer, somatic
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114500"> 114500 </a>
</span>
</td>
<td>
<span class="mim-font">
</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">
AXIN2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604025"> 604025 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/18/191?start=-3&limit=10&highlight=191">
18q21.2
</a>
</span>
</td>
<td>
<span class="mim-font">
Colorectal cancer, somatic
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114500"> 114500 </a>
</span>
</td>
<td>
<span class="mim-font">
</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">
DCC
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120470"> 120470 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/919?start=-3&limit=10&highlight=919">
19q13.33
</a>
</span>
</td>
<td>
<span class="mim-font">
Colorectal cancer, somatic
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114500"> 114500 </a>
</span>
</td>
<td>
<span class="mim-font">
</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">
BAX
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600040"> 600040 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/268?start=-3&limit=10&highlight=268">
20q11.23
</a>
</span>
</td>
<td>
<span class="mim-font">
Colon cancer, advanced, somatic
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114500"> 114500 </a>
</span>
</td>
<td>
<span class="mim-font">
</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">
SRC
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/190090"> 190090 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/406?start=-3&limit=10&highlight=406">
20q13.2
</a>
</span>
</td>
<td>
<span class="mim-font">
{Colon cancer, susceptibility to}
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114500"> 114500 </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>
<td>
<span class="mim-font">
AURKA
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603072"> 603072 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/315?start=-3&limit=10&highlight=315">
22q13.2
</a>
</span>
</td>
<td>
<span class="mim-font">
Colorectal cancer, somatic
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114500"> 114500 </a>
</span>
</td>
<td>
<span class="mim-font">
</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">
EP300
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602700"> 602700 </a>
</span>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimPhenotypeMapFold_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=114500[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>Clinical Resources</dt>
<dd><a href="https://clinicaltrials.gov/search?cond=COLORECTAL CANCER" 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.ncbi.nlm.nih.gov/books/NBK1211/" 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/2734" 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=114500[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>Animal Models</dt>
<dd><a href="https://www.alliancegenome.org/disease/DOID:9256" 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/114500" 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://omia.org/OMIA001990/" 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://wormbase.org/resources/disease/DOID:9256" 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>
<td>
<dl>
<dt>Cell Lines</dt>
<dd><a href="https://catalog.coriell.org/Search?q=OmimNum:114500" 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>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimLinksFold_2" data-toggle="collapse">▲ Close</a>
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</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: 363406005</dd>
<dd>ICD10CM: C18, C18.9</dd>
<dd>ICD9CM: 153, 153.9</dd>
<dd>DO: 9256</dd>
</dl>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimDisorderCodesFold_2" data-toggle="collapse">▲ Close</a>
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</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/120436?search=114500%20120435%20120436%20158320%20185535%20276300%20600259%20600678%20609309%20609310%20613244&highlight=114500%2C120435%2C120436%2C158320%2C185535%2C276300%2C600259%2C600678%2C609309%2C613244">
<span class="mim-tip-hint" title="Gene description">
<span class="text-danger"><strong>*</strong></span>
120436.
</span>
DNA MISMATCH REPAIR PROTEIN MLH1; MLH1
</a>
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">
<a href="/geneMap/3/163?start=-3&limit=10&highlight=163">
3p22.2</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=chr3:36993466-37050846&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'})">3:36,993,466-37,050,846</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">120436</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="#mimDisorderCodesFold_3" id="mimDisorderCodesToggle_3" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'ICD+'})"><span class="small"><span id="mimDisorderCodesToggleTriangle_3" class="mimSingletonToggleTriangle" style="color: DarkRed">►</span> ICD+</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/3/163?start=-3&limit=10&highlight=163">
3p22.2
</a>
</span>
</td>
<td>
<span class="mim-font">
Lynch syndrome 2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609310"> 609310 </a>
</span>
</td>
<td>
<span class="mim-font">
</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">
Mismatch repair cancer syndrome 1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/276300"> 276300 </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>
<tr>
<td>
<span class="mim-font">
Muir-Torre syndrome
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/158320"> 158320 </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=120436[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=ENSG00000076242;t=ENST00000231790" 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=4292" 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=120436" 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=ENSG00000076242;t=ENST00000231790" 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_000249,NM_001167617,NM_001167618,NM_001167619,NM_001258271,NM_001258273,NM_001258274,NM_001354615,NM_001354616,NM_001354617,NM_001354618,NM_001354619,NM_001354620,NM_001354621,NM_001354622,NM_001354623,NM_001354624,NM_001354625,NM_001354626,NM_001354627,NM_001354628,NM_001354629,NM_001354630,XM_005265161,XM_047448152,XM_047448153,XM_047448154,XM_047448155" 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_000249" 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=120436" 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=00390&isoform_id=00390_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/MLH1" 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/463989,466462,604369,730028,998494,1002509,1079787,2160769,2511458,4519680,4557757,13905126,27805155,33622353,33622355,48476966,52001528,62089282,62897179,110164969,110164971,110164973,110164975,110164977,110164979,119584887,119584888,119584889,119638473,147712759,147712779,158514338,158514340,158514342,158514344,158514346,158514348,158514350,158514352,158514354,158514356,158514358,158514360,189069159,194379946,194390916,194391310,211637567,221044260,221045536,221045916,237930358,263191589,263191713,263191733,384871676,384871681,384871683,444737819,530372510,1233054929,1233054942,1233054944,1233054951,1233054961,1233055008,1233055010,1233055021,1237937725,1237937788,1237937897,1237938255,1241781214,1241781240,1241781254,1241781315,2217343931,2217343934,2217343936,2217343938,2462589888,2462589890,2462589892,2462589894,2462589896" 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/P40692" 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=4292" 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=ENSG00000076242;t=ENST00000231790" 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=MLH1" 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=MLH1" 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+4292" 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/MLH1" 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:4292" 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/4292" 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=chr3&hgg_gene=ENST00000231790.8&hgg_start=36993466&hgg_end=37050846&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:7127" 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:7127" 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=120436[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=120436[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/MLH1/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/ENSG00000076242" 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=MLH1" 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=MLH1" 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=MLH1" 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://databases.lovd.nl/genomed/home.php?select_db=MLH1" title="Zhejiang University-Adinovo Center MLH1 Database" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Zhejiang University-Adinov…</a></dd><dd style="margin-left: 0.5em;"><a href="http://www.insight-group.org/" title="Hereditary Non-Polyposis Colorectal Cancer, HNPCC" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Hereditary Non-Polyposis C…</a></dd><dd style="margin-left: 0.5em;"><a href="http://www.med.mun.ca/mmrvariants/" title="Mismatch Repair Genes Variant Database" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Mismatch Repair Genes Vari…</a></dd>
<dd><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=MLH1&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/PA240" 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:7127" 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/FBgn0011659.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:101938" 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/MLH1#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:101938" 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:101938" 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/4292/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/OMIA002145/" 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=4292" 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=WBGene00003373;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-040426-1600" 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:4292" 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=MLH1&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 id="mimDisorderCodesFold_3" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding">
<caption>
ICD+
</caption>
<tbody>
<tr>
<td>
<dl>
<dd>SNOMEDCT: 403824007</dd>
</dl>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimDisorderCodesFold_3" data-toggle="collapse">▲ Close</a>
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</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/600678?search=114500%20120435%20120436%20158320%20185535%20276300%20600259%20600678%20609309%20609310%20613244&highlight=114500%2C120435%2C120436%2C158320%2C185535%2C276300%2C600259%2C600678%2C609309%2C613244">
<span class="mim-tip-hint" title="Gene description">
<span class="text-danger"><strong>*</strong></span>
600678.
</span>
MutS HOMOLOG 6; MSH6
</a>
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">
<a href="/geneMap/2/245?start=-3&limit=10&highlight=245">
2p16.3</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=chr2:47783145-47810101&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'})">2:47,783,145-47,810,101</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">600678</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="3">
<span class="mim-font">
<a href="/geneMap/2/245?start=-3&limit=10&highlight=245">
2p16.3
</a>
</span>
</td>
<td>
<span class="mim-font">
{Endometrial cancer, familial}
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608089"> 608089 </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">
Lynch syndrome 5
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614350"> 614350 </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">
Mismatch repair cancer syndrome 3
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619097"> 619097 </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=600678[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=ENSG00000116062;t=ENST00000234420" 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=2956" 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=600678" 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=ENSG00000116062;t=ENST00000234420" 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_000179,NM_001281492,NM_001281493,NM_001281494,NM_001406795,NM_001406796,NM_001406797,NM_001406798,NM_001406799,NM_001406800,NM_001406801,NM_001406802,NM_001406803,NM_001406804,NM_001406805,NM_001406806,NM_001406807,NM_001406808,NM_001406809,NM_001406811,NM_001406812,NM_001406813,NM_001406814,NM_001406815,NM_001406816,NM_001406817,NM_001406818,NM_001406819,NM_001406820,NM_001406821,NM_001406822,NM_001406823,NM_001406824,NM_001406825,NM_001406826,NM_001406827,NM_001406828,NM_001406829,NM_001406830,NM_001406831,NM_001406832,NM_001407362,NR_176256,NR_176257,NR_176258,NR_176259,NR_176261" 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_000179" 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=600678" 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=07202&isoform_id=07202_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/MSH6" 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/1294813,1840467,2662381,2696085,2696086,4504191,6063479,13279008,13383965,19548099,34481396,68067672,74356430,119620613,119620614,194375916,194388224,528078296,528078300,528078302,2164862771,2164862773,2241236865,2241236870,2241236880,2241236892,2241236904,2241236914,2241236922,2241236939,2241236941,2241236945,2241236960,2241236964,2241236980,2241236982,2241236985,2241236987,2241236993,2241237019,2241237030,2241237035,2241237037,2241237039,2241237047,2241237051,2241237058,2245367892,2245367910,2245367931,2245367937,2245367951,2245367991,2245367993,2245367998,2245368003,2245368020,2245789801,2247445934,2250210845,2436992061,2577097970,2703623496,2703623498" 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/P52701" 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=2956" 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=ENSG00000116062;t=ENST00000234420" 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=MSH6" 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=MSH6" 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+2956" 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/MSH6" 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:2956" 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/2956" 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=chr2&hgg_gene=ENST00000234420.11&hgg_start=47783145&hgg_end=47810101&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:7329" 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:7329" 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/msh6" 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=600678[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=600678[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/MSH6/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/ENSG00000116062" 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=MSH6" 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=MSH6" 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=MSH6" 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://databases.lovd.nl/genomed/home.php?select_db=MSH6" title="Zhejiang University-Adinovo Center MSH6 Database" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Zhejiang University-Adinov…</a></dd><dd style="margin-left: 0.5em;"><a href="http://www.LOVD.nl/MSH6" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">MSH6 database at LOVD</a></dd><dd style="margin-left: 0.5em;"><a href="http://www.insight-group.org/" title="Hereditary Non-Polyposis Colorectal Cancer, HNPCC" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Hereditary Non-Polyposis C…</a></dd><dd style="margin-left: 0.5em;"><a href="http://www.med.mun.ca/mmrvariants/" title="Mismatch Repair Genes Variant Database" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Mismatch Repair Genes Vari…</a></dd>
<dd><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=MSH6&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/PA184" 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:7329" 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/FBgn0036486.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:1343961" 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/MSH6#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:1343961" 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:1343961" 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/2956/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/OMIA002160/" 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=2956" 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=WBGene00003422;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-020905-3" 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:2956" 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=MSH6&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/276300?search=114500%20120435%20120436%20158320%20185535%20276300%20600259%20600678%20609309%20609310%20613244&highlight=114500%2C120435%2C120436%2C158320%2C185535%2C276300%2C600259%2C600678%2C609309%2C613244">
<span class="mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
276300.
</span>
MISMATCH REPAIR CANCER SYNDROME 1; MMRCS1
</a>
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">
<a href="/geneMap/3/163?start=-3&limit=10&highlight=163">
3p22.2</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">276300</span></span>
<br />
<a href="#mimPhenotypeMapFold_5" id="mimPhenotypeMapToggle_5" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimPhenotypeMapToggleTriangle_5" class="mimPingletonToggleTriangle" style="color: DarkOrchid">►</span> Phenotype-Gene Relationships</span></a>
<a href="#mimPhenotypicSeriesFold_5" id="mimPhenotypicSeriesToggle_5" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'PhenotypicSeries'})"><span class="small"><span id="mimPhenotypicSeriesToggleTriangle_5" class="mimSingletonToggleTriangle" style="color: #47B7D9">►</span> Phenotypic Series</span></a>
<a href="#mimDisorderCodesFold_5" id="mimDisorderCodesToggle_5" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'ICD+'})"><span class="small"><span id="mimDisorderCodesToggleTriangle_5" class="mimSingletonToggleTriangle" style="color: DarkRed">►</span> ICD+</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="mimPhenotypeMapFold_5" 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/3/163?start=-3&limit=10&highlight=163">
3p22.2
</a>
</span>
</td>
<td>
<span class="mim-font">
Mismatch repair cancer syndrome 1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/276300"> 276300 </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">
MLH1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120436"> 120436 </a>
</span>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimPhenotypeMapFold_5" data-toggle="collapse">▲ Close</a>
</div>
</div>
<div id="mimPhenotypicSeriesFold_5" 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>
Mismatch repair cancer syndrome
- <a href="/phenotypicSeries/PS276300">PS276300</a>
- 4 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/2/239?start=-3&limit=10&highlight=239"> 2p21-p16.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619096"> Mismatch repair cancer syndrome 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/619096"> 619096 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609309"> MSH2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609309"> 609309 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/245?start=-3&limit=10&highlight=245"> 2p16.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619097"> Mismatch repair cancer syndrome 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/619097"> 619097 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600678"> MSH6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600678"> 600678 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/163?start=-3&limit=10&highlight=163"> 3p22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/276300"> Mismatch repair cancer syndrome 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/276300"> 276300 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120436"> MLH1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120436"> 120436 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/51?start=-3&limit=10&highlight=51"> 7p22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619101"> Mismatch repair cancer syndrome 4 </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/619101"> 619101 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600259"> PMS2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600259"> 600259 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="text-right small">
<a href="#mimPhenotypicSeriesFold_5" data-toggle="collapse">▲ Close</a>
</div>
</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=276300[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=19731&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=MISMATCH REPAIR CANCER SYNDROME" 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=19731&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/NBK1211/" 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/7267" 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/constitutional-mismatch-repair-deficiency-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=276300[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=252202" 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/8a8aded6-1792-4f0a-b04f-d3a0e86b2587/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>
<td>
<dl>
<dt>Animal Models</dt>
<dd><a href="https://www.alliancegenome.org/disease/DOID:0112182" 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/276300" 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:0112182" 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>
<td>
<dl>
<dt>Cell Lines</dt>
<dd><a href="https://catalog.coriell.org/Search?q=OmimNum:276300" 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>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimLinksFold_5" data-toggle="collapse">▲ Close</a>
</div>
</div>
<div id="mimDisorderCodesFold_5" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding">
<caption>
ICD+
</caption>
<tbody>
<tr>
<td>
<dl>
<dd>SNOMEDCT: 61665008</dd>
<dd>ORPHA: 252202</dd>
<dd>DO: 0112182</dd>
</dl>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimDisorderCodesFold_5" data-toggle="collapse">▲ Close</a>
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</div>
</div>
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<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/613244?search=114500%20120435%20120436%20158320%20185535%20276300%20600259%20600678%20609309%20609310%20613244&highlight=114500%2C120435%2C120436%2C158320%2C185535%2C276300%2C600259%2C600678%2C609309%2C613244">
<span class="mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
613244.
</span>
LYNCH SYNDROME 8; LYNCH8
</a>
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">
<a href="/geneMap/2/238?start=-3&limit=10&highlight=238">
2p21</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">613244</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/2/238?start=-3&limit=10&highlight=238">
2p21
</a>
</span>
</td>
<td>
<span class="mim-font">
Lynch syndrome 8
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613244"> 613244 </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">
EPCAM
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/185535"> 185535 </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>
Colorectal cancer, hereditary nonpolyposis
- <a href="/phenotypicSeries/PS120435">PS120435</a>
- 7 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/2/238?start=-3&limit=10&highlight=238"> 2p21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613244"> Lynch syndrome 8 </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/613244"> 613244 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/185535"> EPCAM </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/185535"> 185535 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/239?start=-3&limit=10&highlight=239"> 2p21-p16.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120435"> Lynch syndrome 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/120435"> 120435 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609309"> MSH2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609309"> 609309 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/245?start=-3&limit=10&highlight=245"> 2p16.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614350"> Lynch syndrome 5 </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/614350"> 614350 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600678"> MSH6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600678"> 600678 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/135?start=-3&limit=10&highlight=135"> 3p24.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614331"> Colorectal cancer, hereditary nonpolyposis, type 6 </a>
</span>
</td>
<td>
<span class="mim-font">
</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/614331"> 614331 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/190182"> TGFBR2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/190182"> 190182 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/163?start=-3&limit=10&highlight=163"> 3p22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609310"> Lynch syndrome 2 </a>
</span>
</td>
<td>
<span class="mim-font">
</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/609310"> 609310 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120436"> MLH1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120436"> 120436 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/51?start=-3&limit=10&highlight=51"> 7p22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614337"> Lynch syndrome 4 </a>
</span>
</td>
<td>
<span class="mim-font">
</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/614337"> 614337 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600259"> PMS2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600259"> 600259 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/395?start=-3&limit=10&highlight=395"> 14q24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614385"> Colorectal cancer, hereditary nonpolyposis, type 7 </a>
</span>
</td>
<td>
<span class="mim-font">
</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/614385"> 614385 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604395"> MLH3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604395"> 604395 </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=613244[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=3245&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=LYNCH SYNDROME" 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=3245&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/NBK1211/" 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/8531" 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=613244[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=144" 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:0070270" 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/613244" 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_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: 144</dd>
<dd>DO: 0070270</dd>
</dl>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimDisorderCodesFold_6" data-toggle="collapse">▲ Close</a>
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</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/158320?search=114500%20120435%20120436%20158320%20185535%20276300%20600259%20600678%20609309%20609310%20613244&highlight=114500%2C120435%2C120436%2C158320%2C185535%2C276300%2C600259%2C600678%2C609309%2C613244">
<span class="mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
158320.
</span>
MUIR-TORRE SYNDROME; MRTES
</a>
</span>
<br />
<span class="text-muted">
Cytogenetic locations:
<span class="mim-font">
<a href="/geneMap/2/239?start=-3&limit=10&highlight=239">
2p21-p16.3</a></span>,
<span class="mim-font">
<a href="/geneMap/3/163?start=-3&limit=10&highlight=163">
3p22.2</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">158320</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="#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/2/239?start=-3&limit=10&highlight=239">
2p21-p16.3
</a>
</span>
</td>
<td>
<span class="mim-font">
Muir-Torre syndrome
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/158320"> 158320 </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">
MSH2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609309"> 609309 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/163?start=-3&limit=10&highlight=163">
3p22.2
</a>
</span>
</td>
<td>
<span class="mim-font">
Muir-Torre syndrome
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/158320"> 158320 </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">
MLH1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120436"> 120436 </a>
</span>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimPhenotypeMapFold_7" data-toggle="collapse">▲ Close</a>
</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=158320[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=543&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=MUIR-TORRE SYNDROME" 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=543&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/NBK1211/" 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/3972" 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/gene/mlh1" 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=158320[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=587" 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:0050465" 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/158320" 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:0050465" 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>SNOMEDCT: 403824007</dd>
<dd>ORPHA: 587</dd>
<dd>DO: 0050465</dd>
</dl>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimDisorderCodesFold_7" data-toggle="collapse">▲ Close</a>
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</div>
</div>
<div class="row">
<p />
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<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/600259?search=114500%20120435%20120436%20158320%20185535%20276300%20600259%20600678%20609309%20609310%20613244&highlight=114500%2C120435%2C120436%2C158320%2C185535%2C276300%2C600259%2C600678%2C609309%2C613244">
<span class="mim-tip-hint" title="Gene description">
<span class="text-danger"><strong>*</strong></span>
600259.
</span>
PMS1 HOMOLOG 2, MISMATCH REPAIR SYSTEM COMPONENT; PMS2
</a>
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">
<a href="/geneMap/7/51?start=-3&limit=10&highlight=51">
7p22.1</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=chr7:5970925-6009106&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'})">7:5,970,925-6,009,106</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">600259</span></span>
<br />
<a href="#mimGeneMapFold_8" id="mimGeneMapToggle_8" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimGeneMapToggleTriangle_8" class="mimSingletonToggleTriangle" style="color: DarkOrchid">►</span> Gene-Phenotype Relationships</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="mimGeneMapFold_8" 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/7/51?start=-3&limit=10&highlight=51">
7p22.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Lynch syndrome 4
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614337"> 614337 </a>
</span>
</td>
<td>
<span class="mim-font">
</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">
Mismatch repair cancer syndrome 4
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619101"> 619101 </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>
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<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=600259[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=ENSG00000122512;t=ENST00000265849" 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=5395" 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=600259" 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=ENSG00000122512;t=ENST00000265849" 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_000535,NM_001322003,NM_001322004,NM_001322005,NM_001322006,NM_001322007,NM_001322008,NM_001322009,NM_001322010,NM_001322011,NM_001322012,NM_001322013,NM_001322014,NM_001322015,NM_001406866,NM_001406868,NM_001406869,NM_001406870,NM_001406871,NM_001406872,NM_001406873,NM_001406874,NM_001406875,NM_001406876,NM_001406877,NM_001406878,NM_001406879,NM_001406880,NM_001406881,NM_001406882,NM_001406883,NM_001406884,NM_001406885,NM_001406886,NM_001406887,NM_001406888,NM_001406889,NM_001406890,NM_001406891,NM_001406892,NM_001406893,NM_001406894,NM_001406895,NM_001406896,NM_001406897,NM_001406898,NM_001406899,NM_001406900,NM_001406901,NM_001406902,NM_001406903,NM_001406904,NM_001406905,NM_001406906,NM_001406907,NM_001406908,NM_001406909,NM_001406910,NM_001406911,NM_001406912,NR_136154,XM_047420482,XM_047420483,XM_047420484,XM_047420486" 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_000535" 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=600259" 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=02598&isoform_id=02598_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/PMS2" 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/535515,557470,31873629,41350089,58737033,58737035,58737039,58737041,58737043,62739886,119575457,148357340,189065468,194378162,317373266,1015125298,1015130027,1015148760,1015158154,1015158971,1015172279,1015172281,1015172283,1015172287,1015172289,1015172291,1015172293,1015177035,1015181836,2217367467,2217367469,2217367471,2217367476,2243203114,2243203128,2243203597,2243203785,2243203920,2243204174,2243204297,2243205408,2243205856,2243206271,2243206404,2243206508,2243206656,2243206766,2243207642,2244985382,2244985386,2244985404,2244985408,2244985434,2244985449,2244985460,2244985462,2244985490,2244985500,2244985517,2244985529,2244985537,2244985551,2244985572,2244985605,2244985623,2244985639,2244985682,2244986453,2244986475,2244986499,2244986521,2244986525,2244986531,2244986543,2244986553,2244986567,2244986586,2244986598,2244986637,2462614844,2462614846,2462614848,2462614850,2462614852,2462614854,2462614856,2462614858,2462614860,2462614862,2462614864" 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/P54278" 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=5395" 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=ENSG00000122512;t=ENST00000265849" 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=PMS2" 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=PMS2" 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+5395" 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/PMS2" 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:5395" 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/5395" 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=chr7&hgg_gene=ENST00000265849.12&hgg_start=5970925&hgg_end=6009106&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:9122" 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:9122" 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/pms2" 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=600259[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=600259[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://gnomad.broadinstitute.org/gene/ENSG00000122512" 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=PMS2" 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=PMS2" 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=PMS2" 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://databases.lovd.nl/genomed/home.php?select_db=PMS2" title="Zhejiang University-Adinovo Center PMS2 Database" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Zhejiang University-Adinov…</a></dd><dd style="margin-left: 0.5em;"><a href="http://www.insight-group.org/" title="Hereditary Non-Polyposis Colorectal Cancer, HNPCC" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Hereditary Non-Polyposis C…</a></dd>
<dd><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=PMS2&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/PA33448" 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:9122" 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/FBgn0011660.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:104288" 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/PMS2#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:104288" 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:104288" 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/5395/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=5395" 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=WBGene00004064;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-030131-686" 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:5395" 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=PMS2&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>
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<a href="#mimLinksFold_8" data-toggle="collapse">▲ Close</a>
</div>
</div>
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<div class="row">
<p />
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<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/185535?search=114500%20120435%20120436%20158320%20185535%20276300%20600259%20600678%20609309%20609310%20613244&highlight=114500%2C120435%2C120436%2C158320%2C185535%2C276300%2C600259%2C600678%2C609309%2C613244">
<span class="mim-tip-hint" title="Gene description">
<span class="text-danger"><strong>*</strong></span>
185535.
</span>
EPITHELIAL CELLULAR ADHESION MOLECULE; EPCAM
</a>
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">
<a href="/geneMap/2/238?start=-3&limit=10&highlight=238">
2p21</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=chr2:47369311-47387020&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'})">2:47,369,311-47,387,020</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">185535</span></span>
<br />
<a href="#mimGeneMapFold_9" id="mimGeneMapToggle_9" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimGeneMapToggleTriangle_9" class="mimSingletonToggleTriangle" style="color: DarkOrchid">►</span> Gene-Phenotype Relationships</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="mimGeneMapFold_9" 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/2/238?start=-3&limit=10&highlight=238">
2p21
</a>
</span>
</td>
<td>
<span class="mim-font">
Diarrhea 5, with tufting enteropathy, congenital
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613217"> 613217 </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>
<tr>
<td>
<span class="mim-font">
Lynch syndrome 8
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613244"> 613244 </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_9" data-toggle="collapse">▲ Close</a>
</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=185535[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=ENSG00000119888;t=ENST00000263735" 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=4072" 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=185535" 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=ENSG00000119888;t=ENST00000263735" 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_002354" 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_002354" 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=185535" 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=01709&isoform_id=01709_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/EPCAM" 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/34187,181133,182896,182906,307091,619790,15928632,47057553,49457512,49457558,62822547,119620623,119620624,160266056,218505670,2283864894,2283864896,2283864898,2283864900,2283864902,2283864904" 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/P16422" 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=4072" 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=ENSG00000119888;t=ENST00000263735" 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=EPCAM" 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=EPCAM" 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+4072" 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/EPCAM" 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:4072" 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/4072" 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=chr2&hgg_gene=ENST00000263735.9&hgg_start=47369311&hgg_end=47387020&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:11529" 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:11529" 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=185535[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=185535[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://gnomad.broadinstitute.org/gene/ENSG00000119888" 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=EPCAM" 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=EPCAM" 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=EPCAM" 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://www.LOVD.nl/EPCAM" 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=EPCAM&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/PA35493" 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:11529" 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:106653" 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/EPCAM#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:106653" 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:106653" 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/4072/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=4072" 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-040426-2209" 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:4072" 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=EPCAM&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_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/609309?search=114500%20120435%20120436%20158320%20185535%20276300%20600259%20600678%20609309%20609310%20613244&highlight=114500%2C120435%2C120436%2C158320%2C185535%2C276300%2C600259%2C600678%2C609309%2C613244">
<span class="mim-tip-hint" title="Gene description">
<span class="text-danger"><strong>*</strong></span>
609309.
</span>
MutS HOMOLOG 2; MSH2
</a>
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">
<a href="/geneMap/2/239?start=-3&limit=10&highlight=239">
2p21-p16.3</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=chr2:47403067-47709830&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'})">2:47,403,067-47,709,830</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">609309</span></span>
<br />
<a href="#mimGeneMapFold_10" id="mimGeneMapToggle_10" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimGeneMapToggleTriangle_10" class="mimSingletonToggleTriangle" style="color: DarkOrchid">►</span> Gene-Phenotype Relationships</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="mimGeneMapFold_10" 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/2/239?start=-3&limit=10&highlight=239">
2p21-p16.3
</a>
</span>
</td>
<td>
<span class="mim-font">
Lynch syndrome 1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120435"> 120435 </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">
Mismatch repair cancer syndrome 2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619096"> 619096 </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>
<tr>
<td>
<span class="mim-font">
Muir-Torre syndrome
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/158320"> 158320 </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_10" data-toggle="collapse">▲ Close</a>
</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=609309[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=ENSG00000095002;t=ENST00000233146" 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=4436" 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=609309" 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=ENSG00000095002;t=ENST00000233146" 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_000251,NM_001258281,NM_001406631,NM_001406632,NM_001406633,NM_001406634,NM_001406635,NM_001406636,NM_001406637,NM_001406638,NM_001406639,NM_001406640,NM_001406641,NM_001406642,NM_001406643,NM_001406644,NM_001406645,NM_001406646,NM_001406647,NM_001406648,NM_001406649,NM_001406650,NM_001406651,NM_001406652,NM_001406653,NM_001406654,NM_001406655,NM_001406656,NM_001406657,NM_001406658,NM_001406659,NM_001406660,NM_001406661,NM_001406662,NM_001406666,NM_001406669,NM_001406672,NM_001406674,NR_176230,NR_176231,NR_176232,NR_176233,NR_176234,NR_176235,NR_176236,NR_176237,NR_176238,NR_176239,NR_176240,NR_176241,NR_176242,NR_176243,NR_176244,NR_176245,NR_176246,NR_176247,NR_176248,NR_176249,NR_176250,XM_047444416" 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_000251" 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=609309" 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=00389&isoform_id=00389_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/MSH2" 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/432998,433147,1000867,1000869,1000871,1000873,1000875,1000877,1000879,1000881,1000883,1000885,1079805,1171032,3360508,4262705,4557761,18204306,33622358,46488018,62822548,62897279,62898129,110164981,110164983,110164985,110164987,119620618,119620619,119620620,147712744,147712789,147712797,194384482,194385858,194387494,194389128,384871702,1488099858,2164862767,2164862769,2173497734,2217328126,2240436580,2240436586,2240436594,2240436602,2240436618,2240436631,2240436637,2240436649,2240436655,2240436671,2240436675,2240436677,2240436683,2240436693,2240436703,2240436713,2240436720,2240436722,2240436724,2240436773,2240436777,2240436785,2240436791,2243204938,2243205168,2244985507,2244985564,2244986602,2244986612,2246630116,2246630327,2246630404,2246630411,2246630413,2246630490,2246630667" 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/P43246" 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=4436" 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=ENSG00000095002;t=ENST00000233146" 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=MSH2" 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=MSH2" 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+4436" 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/MSH2" 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:4436" 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/4436" 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=chr2&hgg_gene=ENST00000439182.3&hgg_start=47403067&hgg_end=47709830&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:7325" 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:7325" 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/msh2" 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=609309[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=609309[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/MSH2/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/ENSG00000095002" 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=MSH2" 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=MSH2" 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=MSH2" 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://databases.lovd.nl/genomed/home.php?select_db=MSH2" title="Zhejiang University-Adinovo Center MSH2 Database" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Zhejiang University-Adinov…</a></dd><dd style="margin-left: 0.5em;"><a href="http://www.insight-group.org/" title="Hereditary Non-Polyposis Colorectal Cancer, HNPCC" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Hereditary Non-Polyposis C…</a></dd><dd style="margin-left: 0.5em;"><a href="http://www.med.mun.ca/mmrvariants/" title="Mismatch Repair Genes Variant Database" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Mismatch Repair Genes Vari…</a></dd>
<dd><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=MSH2&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/PA31133" 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:7325" 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/FBgn0015546.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:101816" 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/MSH2#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:101816" 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:101816" 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/4436/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=4436" 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=WBGene00003418;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-040426-2932" 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:4436" 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=MSH2&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>
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ICD+
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<dd>SNOMEDCT: 403824007</dd>
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Search: <span class="mim-text-font">114500 120435 120436 158320 185535 276300 600259 600678 609309 609310 613244 (Search in: MIM number)</span>
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Results: 11 entries.
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1:
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<span class="text-danger"><strong>#</strong></span>
120435.
LYNCH SYNDROME 1; LYNCH1
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">2p21-p16.3</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">120435</span></span>
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<p />
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2:
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<span class="mim-result-font">
<span class="text-danger"><strong>#</strong></span>
114500.
COLORECTAL CANCER; CRC
</span>
<br />
<span class="text-muted">
Cytogenetic locations:
<span class="mim-font">1p36.13</a></span>,
<span class="mim-font">1p13.2</a></span>,
<span class="mim-font">2q13</a></span>,
<span class="mim-font">3p22.1</a></span>,
<span class="mim-font">3q26.32</a></span>,
<span class="mim-font">4p16.3</a></span>,
<span class="mim-font">4q31.3</a></span>,
<span class="mim-font">5q22.2</a></span>,
<span class="mim-font">5q22.2</a></span>,
<span class="mim-font">7q11.23</a></span>,
<span class="mim-font">7q34</a></span>,
<span class="mim-font">8p22</a></span>,
<span class="mim-font">8p22</a></span>,
<span class="mim-font">8q22.1</a></span>,
<span class="mim-font">11p11.2</a></span>,
<span class="mim-font">11q13.3</a></span>,
<span class="mim-font">14q24.3</a></span>,
<span class="mim-font">14q32.33</a></span>,
<span class="mim-font">15q15.1</a></span>,
<span class="mim-font">17p13.1</a></span>,
<span class="mim-font">17p11.2</a></span>,
<span class="mim-font">17q24.1</a></span>,
<span class="mim-font">18q21.2</a></span>,
<span class="mim-font">19q13.33</a></span>,
<span class="mim-font">20q11.23</a></span>,
<span class="mim-font">20q13.2</a></span>,
<span class="mim-font">22q13.2</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">114500</span></span>
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3:
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<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>
120436.
DNA MISMATCH REPAIR PROTEIN MLH1; MLH1
</span>
<br />
<span class="text-muted">
Cytogenetic location: <span class="mim-font">3p22.2</span>,
Genomic coordinates <span class="small">(GRCh38)</span>: <span class="mim-font">3:36,993,466-37,050,846</span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">120436</span></span>
</div>
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<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>
600678.
MutS HOMOLOG 6; MSH6
</span>
<br />
<span class="text-muted">
Cytogenetic location: <span class="mim-font">2p16.3</span>,
Genomic coordinates <span class="small">(GRCh38)</span>: <span class="mim-font">2:47,783,145-47,810,101</span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">600678</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>
276300.
MISMATCH REPAIR CANCER SYNDROME 1; MMRCS1
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">3p22.2</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">276300</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>
613244.
LYNCH SYNDROME 8; LYNCH8
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">2p21</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">613244</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>
158320.
MUIR-TORRE SYNDROME; MRTES
</span>
<br />
<span class="text-muted">
Cytogenetic locations:
<span class="mim-font">2p21-p16.3</a></span>,
<span class="mim-font">3p22.2</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">158320</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>
600259.
PMS1 HOMOLOG 2, MISMATCH REPAIR SYSTEM COMPONENT; PMS2
</span>
<br />
<span class="text-muted">
Cytogenetic location: <span class="mim-font">7p22.1</span>,
Genomic coordinates <span class="small">(GRCh38)</span>: <span class="mim-font">7:5,970,925-6,009,106</span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">600259</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>
185535.
EPITHELIAL CELLULAR ADHESION MOLECULE; EPCAM
</span>
<br />
<span class="text-muted">
Cytogenetic location: <span class="mim-font">2p21</span>,
Genomic coordinates <span class="small">(GRCh38)</span>: <span class="mim-font">2:47,369,311-47,387,020</span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">185535</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>
609309.
MutS HOMOLOG 2; MSH2
</span>
<br />
<span class="text-muted">
Cytogenetic location: <span class="mim-font">2p21-p16.3</span>,
Genomic coordinates <span class="small">(GRCh38)</span>: <span class="mim-font">2:47,403,067-47,709,830</span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">609309</span></span>
</div>
</div>
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