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612347.
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JERVELL AND LANGE-NIELSEN SYNDROME 2; JLNS2
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21q22.12</a></span>
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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21q22.12
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Jervell and Lange-Nielsen syndrome 2
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<a href="/entry/612347"> 612347 </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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KCNE1
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<a href="/entry/176261"> 176261 </a>
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<h5>
Jervell and Lange-Nielsen syndrome
- <a href="/phenotypicSeries/PS220400">PS220400</a>
- 2 Entries
</h5>
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<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>
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<strong>Inheritance</strong>
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<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>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
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<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/82?start=-3&limit=10&highlight=82"> 11p15.5-p15.4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/220400"> Jervell and Lange-Nielsen syndrome </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/220400"> 220400 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607542"> KCNQ1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607542"> 607542 </a>
</span>
</td>
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<td>
<span class="mim-font">
<a href="/geneMap/21/80?start=-3&limit=10&highlight=80"> 21q22.12 </a>
</span>
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<td>
<span class="mim-font">
<a href="/entry/612347"> Jervell and Lange-Nielsen 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/612347"> 612347 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176261"> KCNE1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176261"> 176261 </a>
</span>
</td>
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Links
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<dl>
<dt>Testing</dt>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=612347[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
<dd>EuroGentest</dd>
<dd style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=658&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Familial long QT syndrome&nbsp;</a></dd><dd style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12056&Typ=Pat" title="Jervell and Lange-Nielsen syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Jervell and Lange-Nielsen …&nbsp;</a></dd>
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<dl>
<dt>Clinical Resources</dt>
<dd><a href="https://clinicaltrials.gov/search?cond=JERVELL AND LANGE-NIELSEN 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>EuroGentest</dd>
<dd style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=658&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Familial long QT syndrome&nbsp;</a></dd><dd style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12056&Typ=Pat" title="Jervell and Lange-Nielsen syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Jervell and Lange-Nielsen …&nbsp;</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/books/NBK1405/" 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/3903" 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/jervell-and-lange-nielsen-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=612347[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
<dd>OrphaNet</dd>
<dd style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=768" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Familial long QT syndrome</a></dd><dd style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90647" title="Jervell and Lange-Nielsen syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Jervell and Lange-Nielsen …</a></dd>
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<dt>Animal Models</dt>
<dd><a href="https://www.alliancegenome.org/disease/DOID:2842" 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/612347" 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/OMIA002334/" 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:2842" 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>
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ICD+
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<dl>
<dd>ORPHA: 768, 90647</dd>
<dd>DO: 2842</dd>
</dl>
</td>
</tr>
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2:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<a href="/entry/176261?search=176261%20220400%20607542%20612347&highlight=176261%2C220400%2C607542%2C612347">
<span class="mim-tip-hint" title="Gene description">
<span class="text-danger"><strong>*</strong></span>
176261.
</span>
POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 1; KCNE1
</a>
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">
<a href="/geneMap/21/80?start=-3&limit=10&highlight=80">
21q22.12</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=chr21:34446688-34512210&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'})">21:34,446,688-34,512,210</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">176261</span></span>
<br />
<a href="#mimGeneMapFold_2" id="mimGeneMapToggle_2" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimGeneMapToggleTriangle_2" class="mimSingletonToggleTriangle" style="color: DarkOrchid">&#9658;</span>&nbsp;Gene-Phenotype Relationships</span></a>&nbsp;
<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">&#9658;</span>&nbsp;Links</span></a>&nbsp;
<div id="mimGeneMapFold_2" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-bordered table-condensed small mim-table-padding">
<caption>
Gene-Phenotype Relationships
</caption>
<thead>
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<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
</tr>
</thead>
<tbody>
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<td rowspan="2">
<span class="mim-font">
<a href="/geneMap/21/80?start=-3&limit=10&highlight=80">
21q22.12
</a>
</span>
</td>
<td>
<span class="mim-font">
Jervell and Lange-Nielsen syndrome 2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612347"> 612347 </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">
Long QT syndrome 5
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613695"> 613695 </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>
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<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=176261[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=ENSG00000180509;t=ENST00000399286" 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=3753" 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=176261" 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>
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<td>
<dl>
<dt>DNA</dt>
<dd><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000180509;t=ENST00000399286" 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_000219,NM_001127668,NM_001127669,NM_001127670,NM_001270402,NM_001270403,NM_001270404,NM_001270405,XM_047440764" 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_000219" 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=176261" 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>
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<td>
<dl>
<dt>Protein</dt>
<dd><a href="https://hprd.org/summary?hprd_id=01442&isoform_id=01442_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/KCNE1" 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/116416,386838,452494,603451,4583499,22209087,49456471,55777836,59896110,59896112,60218915,119630188,146048327,152211817,152211819,152211821,154707787,154707789,154707791,154707793,189069287,189095237,189095239,189095241,194385608,393715100,393715102,393715104,393715106,2217337574,2462582494" 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/P15382" 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=3753" 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=ENSG00000180509;t=ENST00000399286" 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=KCNE1" 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=KCNE1" 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+3753" 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/KCNE1" 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:3753" 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/3753" 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=chr21&hgg_gene=ENST00000399286.3&hgg_start=34446688&hgg_end=34512210&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/genes/HGNC:6240" 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/kcne1" 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=176261[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=176261[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/KCNE1/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/ENSG00000180509" 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=KCNE1" 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&nbsp;</a></dd>
<dd><a href="https://www.gwascentral.org/search?q=KCNE1" 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&nbsp;</a></dd>
<dd><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=KCNE1" 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=KCNE1" title="Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Zhejiang University Center…</a></dd><dd style="margin-left: 0.5em;"><a href="http://www.fsm.it/cardmoc/" title="Gene Connection for the Heart" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Gene Connection for the He…</a></dd><dd style="margin-left: 0.5em;"><a href="http://www.ssi.dk/graphics/html/lqtsdb/lqtsdb.htm" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Long QT Syndrome Database</a></dd><dd style="margin-left: 0.5em;"><a href="https://research.cchmc.org/LOVD2/home.php?select_db=KCNE1" title="CCHMC - Human Genetics Mutation Database" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">CCHMC - Human Genetics Mut…</a></dd>
<dd><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=KCNE1&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/PA211" 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:6240" 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:96673" 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/KCNE1#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:96673" 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:96673" 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/3753/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=3753" 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-141104-1" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Cellular Pathways</dt>
<dd><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3753" 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=KCNE1&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>
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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">
<a href="/entry/220400?search=176261%20220400%20607542%20612347&highlight=176261%2C220400%2C607542%2C612347">
<span class="mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
220400.
</span>
JERVELL AND LANGE-NIELSEN SYNDROME 1; JLNS1
</a>
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">
<a href="/geneMap/11/82?start=-3&limit=10&highlight=82">
11p15.5-p15.4</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">220400</span></span>
<br />
<a href="#mimPhenotypeMapFold_3" id="mimPhenotypeMapToggle_3" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimPhenotypeMapToggleTriangle_3" class="mimPingletonToggleTriangle" style="color: DarkOrchid">&#9658;</span>&nbsp;Phenotype-Gene Relationships</span></a>&nbsp;
<a href="#mimPhenotypicSeriesFold_3" id="mimPhenotypicSeriesToggle_3" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'PhenotypicSeries'})"><span class="small"><span id="mimPhenotypicSeriesToggleTriangle_3" class="mimSingletonToggleTriangle" style="color: #47B7D9">&#9658;</span>&nbsp;Phenotypic Series</span></a>&nbsp;
<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">&#9658;</span>&nbsp;ICD+</span></a>&nbsp;
<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">&#9658;</span>&nbsp;Links</span></a>&nbsp;
<div id="mimPhenotypeMapFold_3" 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/11/82?start=-3&limit=10&highlight=82">
11p15.5-p15.4
</a>
</span>
</td>
<td>
<span class="mim-font">
Jervell and Lange-Nielsen syndrome
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/220400"> 220400 </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">
KCNQ1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607542"> 607542 </a>
</span>
</td>
</tr>
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<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Jervell and Lange-Nielsen syndrome
- <a href="/phenotypicSeries/PS220400">PS220400</a>
- 2 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/11/82?start=-3&limit=10&highlight=82"> 11p15.5-p15.4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/220400"> Jervell and Lange-Nielsen syndrome </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/220400"> 220400 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607542"> KCNQ1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607542"> 607542 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/21/80?start=-3&limit=10&highlight=80"> 21q22.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612347"> Jervell and Lange-Nielsen 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/612347"> 612347 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176261"> KCNE1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176261"> 176261 </a>
</span>
</td>
</tr>
</tbody>
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<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=220400[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
<dd>EuroGentest</dd>
<dd style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=658&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Familial long QT syndrome&nbsp;</a></dd><dd style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12056&Typ=Pat" title="Jervell and Lange-Nielsen syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Jervell and Lange-Nielsen …&nbsp;</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Clinical Resources</dt>
<dd><a href="https://clinicaltrials.gov/search?cond=JERVELL AND LANGE-NIELSEN 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>EuroGentest</dd>
<dd style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=658&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Familial long QT syndrome&nbsp;</a></dd><dd style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12056&Typ=Pat" title="Jervell and Lange-Nielsen syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Jervell and Lange-Nielsen …&nbsp;</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/books/NBK1405/" 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.ncbi.nlm.nih.gov/gtr/all/tests/?term=220400[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
<dd>OrphaNet</dd>
<dd style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=768" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Familial long QT syndrome</a></dd><dd style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90647" title="Jervell and Lange-Nielsen syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Jervell and Lange-Nielsen …</a></dd>
<dd><a href="https://www.possumcore.com/nuxeo/nxdoc/default/fcc922a6-2155-4809-95bc-812c59392302/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:2842" 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/220400" 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:2842" 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>
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<table class="table table-condensed small mim-table-padding">
<caption>
ICD+
</caption>
<tbody>
<tr>
<td>
<dl>
<dd>SNOMEDCT: 373905003</dd>
<dd>ORPHA: 768, 90647</dd>
<dd>DO: 2842</dd>
</dl>
</td>
</tr>
</tbody>
</table>
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4:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<a href="/entry/607542?search=176261%20220400%20607542%20612347&highlight=176261%2C220400%2C607542%2C612347">
<span class="mim-tip-hint" title="Gene description">
<span class="text-danger"><strong>*</strong></span>
607542.
</span>
POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1
</a>
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">
<a href="/geneMap/11/82?start=-3&limit=10&highlight=82">
11p15.5-p15.4</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=chr11:2445008-2849105&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'})">11:2,445,008-2,849,105</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">607542</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">&#9658;</span>&nbsp;Gene-Phenotype Relationships</span></a>&nbsp;
<a href="#mimDisorderCodesFold_4" id="mimDisorderCodesToggle_4" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'ICD+'})"><span class="small"><span id="mimDisorderCodesToggleTriangle_4" class="mimSingletonToggleTriangle" style="color: DarkRed">&#9658;</span>&nbsp;ICD+</span></a>&nbsp;
<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">&#9658;</span>&nbsp;Links</span></a>&nbsp;
<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="5">
<span class="mim-font">
<a href="/geneMap/11/82?start=-3&limit=10&highlight=82">
11p15.5-p15.4
</a>
</span>
</td>
<td>
<span class="mim-font">
{Long QT syndrome 1, acquired, susceptibility to}
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/192500"> 192500 </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">
Atrial fibrillation, familial, 3
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607554"> 607554 </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">
Jervell and Lange-Nielsen syndrome
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/220400"> 220400 </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">
Long QT syndrome 1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/192500"> 192500 </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">
Short QT syndrome 2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609621"> 609621 </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_4" data-toggle="collapse">&#9650;&nbsp;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=607542[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=ENSG00000053918;t=ENST00000155840" 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=3784" 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=607542" 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=ENSG00000053918;t=ENST00000155840" 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_000218,NM_001406836,NM_001406837,NM_001406838,NM_001406839,NM_181798" 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_000218" 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=607542" 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=06341&isoform_id=06341_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/KCNQ1" 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/2076880,2198822,2465515,2465531,2961249,3953683,3953684,5042385,5042386,6166005,16877662,31711384,32479525,32479527,109730525,116488845,116488847,119622922,119622923,119622924,119622925,119622926,158254668,2241236898,2241236947,2241237015,2241237053" 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/P51787" 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=3784" 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=ENSG00000053918;t=ENST00000155840" 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=KCNQ1" 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=KCNQ1" 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+3784" 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/KCNQ1" 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:3784" 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/3784" 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=chr11&hgg_gene=ENST00000155840.12&hgg_start=2445008&hgg_end=2849105&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:6294" 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:6294" 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/kcnq1" 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=607542[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=607542[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/KCNQ1/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/ENSG00000053918" 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=KCNQ1" 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&nbsp;</a></dd>
<dd><a href="https://www.gwascentral.org/search?q=KCNQ1" 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&nbsp;</a></dd>
<dd><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=KCNQ1" 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=KCNQ1" title="Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Zhejiang University Center…</a></dd><dd style="margin-left: 0.5em;"><a href="http://www.fsm.it/cardmoc/" title="Gene Connection for the Heart" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Gene Connection for the He…</a></dd><dd style="margin-left: 0.5em;"><a href="http://www.ssi.dk/graphics/html/lqtsdb/lqtsdb.htm" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Long QT Syndrome Database</a></dd><dd style="margin-left: 0.5em;"><a href="https://research.cchmc.org/LOVD2/home.php?select_db=KCNQ1" title="CCHMC - Human Genetics Mutation Database" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">CCHMC - Human Genetics Mut…</a></dd>
<dd><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=KCNQ1&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/PA223" 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:6294" 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:108083" 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/KCNQ1#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:108083" 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:108083" 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/3784/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/OMIA002332/" 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=3784" 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=WBGene00002235;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-061214-5" 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:3784" 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=KCNQ1&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>
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<div id="mimDisorderCodesFold_4" class="well well-sm collapse mimSingletonToggleFold">
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ICD+
</caption>
<tbody>
<tr>
<td>
<dl>
<dd>SNOMEDCT: 20852007</dd>
</dl>
</td>
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</table>
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Search: <span class="mim-text-font">176261 220400 607542 612347 (Search in: MIM number)</span>
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Results: 4 entries.
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1:
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<span class="text-danger"><strong>#</strong></span>
612347.
JERVELL AND LANGE-NIELSEN SYNDROME 2; JLNS2
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<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">21q22.12</a></span>
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<span class="text-success">Matching terms: <span class="mim-font">612347</span></span>
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2:
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<span class="text-danger"><strong>*</strong></span>
176261.
POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 1; KCNE1
</span>
<br />
<span class="text-muted">
Cytogenetic location: <span class="mim-font">21q22.12</span>,
Genomic coordinates <span class="small">(GRCh38)</span>: <span class="mim-font">21:34,446,688-34,512,210</span>
</span>
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<span class="text-success">Matching terms: <span class="mim-font">176261</span></span>
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3:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<span class="text-danger"><strong>#</strong></span>
220400.
JERVELL AND LANGE-NIELSEN SYNDROME 1; JLNS1
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">11p15.5-p15.4</a></span>
</span>
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<span class="text-success">Matching terms: <span class="mim-font">220400</span></span>
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<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
4:
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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>
607542.
POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1
</span>
<br />
<span class="text-muted">
Cytogenetic location: <span class="mim-font">11p15.5-p15.4</span>,
Genomic coordinates <span class="small">(GRCh38)</span>: <span class="mim-font">11:2,445,008-2,849,105</span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">607542</span></span>
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