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Entry
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- %606852 - PARKINSON DISEASE 10; PARK10
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- OMIM
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<a href="/search/advanced/entry"> OMIM </a>
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<p>
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<span class="h4">%606852</span>
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<br />
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS168600"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div style="display: table-row">
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=170534" 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></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+170534" 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></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/170534" 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></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=PARKINSON DISEASE" 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></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=932&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></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2828" 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></div>
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</div>
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<span>
|
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
|
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 2828<br />
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">ICD+</a>
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</div>
|
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<div>
|
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<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Phenotype description or locus, molecular basis unknown">
|
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<span class="text-danger"><strong>%</strong></span>
|
|
606852
|
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</span>
|
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</span>
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</div>
|
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</div>
|
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<div>
|
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
|
<span class="mim-font">
|
|
|
|
PARKINSON DISEASE 10; PARK10
|
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|
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</span>
|
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</h3>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
|
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<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
PARKINSON DISEASE, AGE AT ONSET OF; AAOPD
|
|
</span>
|
|
</h4>
|
|
</div>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/1/601?start=-3&limit=10&highlight=601">1p32</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:50200001-60800000&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'})">1:50,200,001-60,800,000</a> </span>
|
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</em>
|
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</strong>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
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Location
|
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</th>
|
|
<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/1/601?start=-3&limit=10&highlight=601">
|
|
1p32
|
|
</a>
|
|
</span>
|
|
</td>
|
|
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<td>
|
|
<span class="mim-font">
|
|
{Parkinson disease 10}
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/606852"> 606852 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods">2</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS168600" class="btn btn-info" role="button"> Phenotypic Series </a>
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|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/606852" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/606852" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small">
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<div class="row">
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
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<h5>
|
|
Parkinson disease
|
|
- <a href="/phenotypicSeries/PS168600">PS168600</a>
|
|
- 34 Entries
|
|
</h5>
|
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</div>
|
|
</div>
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|
<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>
|
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<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
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<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/115?start=-3&limit=10&highlight=115"> 1p36.23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606324"> Parkinson disease 7, autosomal recessive early-onset </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/606324"> 606324 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602533"> DJ1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602533"> 602533 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/208?start=-3&limit=10&highlight=208"> 1p36.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606693"> Kufor-Rakeb 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/606693"> 606693 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610513"> ATP13A2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610513"> 610513 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/244?start=-3&limit=10&highlight=244"> 1p36.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605909"> Parkinson disease 6, early onset </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/605909"> 605909 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608309"> PINK1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608309"> 608309 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/601?start=-3&limit=10&highlight=601"> 1p32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606852"> {Parkinson disease 10} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606852"> 606852 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606852"> PARK10 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606852"> 606852 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/688?start=-3&limit=10&highlight=688"> 1p31.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615528"> Parkinson disease 19a, juvenile-onset </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/615528"> 615528 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608375"> DNAJC6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608375"> 608375 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/688?start=-3&limit=10&highlight=688"> 1p31.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615528"> Parkinson disease 19b, early-onset </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/615528"> 615528 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608375"> DNAJC6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608375"> 608375 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1217?start=-3&limit=10&highlight=1217"> 1q22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/168600"> {Parkinson disease, late-onset, susceptibility to} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</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/168600"> 168600 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606463"> GBA1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606463"> 606463 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1546?start=-3&limit=10&highlight=1546"> 1q32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613164"> {Parkinson disease 16} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613164"> 613164 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613164"> PARK16 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613164"> 613164 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/314?start=-3&limit=10&highlight=314"> 2p13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602404"> {Parkinson disease 3} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602404"> 602404 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602404"> PARK3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602404"> 602404 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/389?start=-3&limit=10&highlight=389"> 2p13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610297"> {Parkinson disease 13} </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/610297"> 610297 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606441"> HTRA2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606441"> 606441 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/1118?start=-3&limit=10&highlight=1118"> 2q37.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607688"> {Parkinson disease 11} </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/607688"> 607688 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612003"> GIGYF2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612003"> 612003 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/668?start=-3&limit=10&highlight=668"> 3q22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616361"> Parkinson disease 21 </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616361"> 616361 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616361"> PARK21 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616361"> 616361 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/917?start=-3&limit=10&highlight=917"> 3q27.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614251"> {Parkinson disease 18} </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/614251"> 614251 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600495"> EIF4G1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600495"> 600495 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/174?start=-3&limit=10&highlight=174"> 4p13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613643"> {?Parkinson disease 5, susceptibility to} </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/613643"> 613643 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191342"> UCHL1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191342"> 191342 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/411?start=-3&limit=10&highlight=411"> 4q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/168601"> Parkinson disease 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/168601"> 168601 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/163890"> SNCA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/163890"> 163890 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/411?start=-3&limit=10&highlight=411"> 4q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605543"> Parkinson disease 4 </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/605543"> 605543 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/163890"> SNCA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/163890"> 163890 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/432?start=-3&limit=10&highlight=432"> 4q23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/168600"> {Parkinson disease, susceptibility to} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</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/168600"> 168600 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/103730"> ADH1C </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/103730"> 103730 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/929?start=-3&limit=10&highlight=929"> 6q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620923"> {Parkinson disease 26, autosomal dominant, susceptibility to} </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/620923"> 620923 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612906"> RAB32 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612906"> 612906 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/1011?start=-3&limit=10&highlight=1011"> 6q26 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600116"> Parkinson disease, juvenile, type 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/600116"> 600116 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602544"> PRKN </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602544"> 602544 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/1041?start=-3&limit=10&highlight=1041"> 6q27 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/168600"> {Parkinson disease, susceptibility to} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</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/168600"> 168600 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600075"> TBP </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600075"> 600075 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/284?start=-3&limit=10&highlight=284"> 7p11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616710"> Parkinson disease 22, autosomal dominant </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/616710"> 616710 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616244"> CHCHD2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616244"> 616244 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/565?start=-3&limit=10&highlight=565"> 9q34.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620482"> Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development </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/620482"> 620482 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600756"> PTPA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600756"> 600756 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/283?start=-3&limit=10&highlight=283"> 10q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619491"> {Parkinson disease 24, autosomal dominant, susceptibility to} </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/619491"> 619491 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176801"> PSAP </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176801"> 176801 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/290?start=-3&limit=10&highlight=290"> 12q12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607060"> {Parkinson disease 8} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/607060"> 607060 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/609007"> LRRK2 </a>
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<span class="mim-font">
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<a href="/entry/609007"> 609007 </a>
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<span class="mim-font">
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<a href="/geneMap/12/813?start=-3&limit=10&highlight=813"> 12q24.12 </a>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/168600"> {Parkinson disease, late-onset, susceptibility to} </a>
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</span>
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</td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</abbr>
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</span>
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</td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</td>
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<span class="mim-font">
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<a href="/entry/168600"> 168600 </a>
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</span>
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</td>
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<span class="mim-font">
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<a href="/entry/601517"> ATXN2 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/601517"> 601517 </a>
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<span class="mim-font">
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<a href="/geneMap/13/213?start=-3&limit=10&highlight=213"> 13q21.33 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/168600"> {Parkinson disease, susceptibility to} </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/168600"> 168600 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/603680"> ATXN8OS </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/603680"> 603680 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/geneMap/14/466?start=-3&limit=10&highlight=466"> 14q32.12 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/168600"> {Parkinson disease, late-onset, susceptibility to} </a>
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</span>
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</abbr>
|
|
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</span>
|
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</td>
|
|
<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/168600"> 168600 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/607047"> ATXN3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/607047"> 607047 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/geneMap/15/264?start=-3&limit=10&highlight=264"> 15q22.2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/616840"> Parkinson disease 23, autosomal recessive, early onset </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/616840"> 616840 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/608879"> VPS13C </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/608879"> 608879 </a>
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</span>
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</td>
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</tr>
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<tr>
|
|
<td>
|
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<span class="mim-font">
|
|
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<a href="/geneMap/16/404?start=-3&limit=10&highlight=404"> 16q11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614203"> {Parkinson disease 17} </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/614203"> 614203 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601501"> VPS35 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601501"> 601501 </a>
|
|
</span>
|
|
</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/663?start=-3&limit=10&highlight=663"> 17q21.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/168600"> {Parkinson disease, susceptibility to} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</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/168600"> 168600 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/157140"> MAPT </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/157140"> 157140 </a>
|
|
</span>
|
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</td>
|
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|
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|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/21/62?start=-3&limit=10&highlight=62"> 21q22.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615530"> Parkinson disease 20, early-onset </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>
|
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<span class="mim-font">
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<a href="/entry/615530"> 615530 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/604297"> SYNJ1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604297"> 604297 </a>
|
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</span>
|
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</td>
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|
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<tr>
|
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<td>
|
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<span class="mim-font">
|
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|
<a href="/geneMap/22/204?start=-3&limit=10&highlight=204"> 22q12.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
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<span class="mim-font">
|
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<a href="/entry/260300"> Parkinson disease 15, autosomal recessive </a>
|
|
</span>
|
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</td>
|
|
<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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<td>
|
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<span class="mim-font">
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<a href="/entry/260300"> 260300 </a>
|
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</span>
|
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/605648"> FBXO7 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/605648"> 605648 </a>
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</span>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/22/268?start=-3&limit=10&highlight=268"> 22q13.1 </a>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/612953"> Parkinson disease 14, autosomal recessive </a>
|
|
</span>
|
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</td>
|
|
<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/612953"> 612953 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/603604"> PLA2G6 </a>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/603604"> 603604 </a>
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</span>
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</td>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/X/445?start=-3&limit=10&highlight=445"> Xq21-q25 </a>
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</span>
|
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</td>
|
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<td>
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<span class="mim-font">
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<a href="/entry/300557"> {Parkinson disease 12} </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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</span>
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</td>
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<span class="mim-font">
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<a href="/entry/300557"> 300557 </a>
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<span class="mim-font">
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<a href="/entry/300557"> PARK12 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/300557"> 300557 </a>
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</table>
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<div class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see <a href="/entry/168600">168600</a>.</p>
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<br />
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<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Mapping</strong>
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<p><a href="#7" class="mim-tip-reference" title="Li, Y.-J., Scott, W. K., Hedges, D. J., Zhang, F., Gaskell, P. C., Nance, M. A., Watts, R. L., Hubble, J. P., Koller, W. C., Pahwa, R., Stern, M. B., Hiner, B. C., and 20 others. <strong>Age at onset in two common neurodegenerative diseases is genetically controlled.</strong> Am. J. Hum. Genet. 70: 985-993, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11875758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11875758</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11875758[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/339815" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11875758">Li et al. (2002)</a> performed a genomic screen for age at onset (AAO) of Parkinson disease (<a href="/entry/168600">168600</a>), studying 174 families. Heritabilities between 40% and 60% were found. Significant evidence was found for linkage of AAO in Parkinson disease on 1p (lod = 3.41). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11875758" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using 781 microsatellite markers, <a href="#6" class="mim-tip-reference" title="Hicks, A. A., Petursson, H., Jonsson, T., Stefansson, H., Johannsdottir, H. S., Sainz, J., Frigge, M. L., Kong, A., Gulcher, J. R., Stefansson, K., Sveinbjornsdottir, S. <strong>A susceptibility gene for late-onset idiopathic Parkinson's disease.</strong> Ann. Neurol. 52: 549-555, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12402251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12402251</a>] [<a href="https://doi.org/10.1002/ana.10324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12402251">Hicks et al. (2002)</a> performed a genomewide scan on 117 Icelandic patients with classic late-onset Parkinson disease (mean age of onset 65.8 years) and 168 of their unaffected relatives from 51 families. They found linkage to chromosome 1p32, and further analysis yielded a lod score of 4.9 near marker D1S2652 within a 7.6-cM segment. The authors designated this locus PARK10. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12402251" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By SNP analysis of 267 families with PD, 83 of whom were positively linked to chromosome 1p, <a href="#11" class="mim-tip-reference" title="Oliveira, S. A., Li, Y.-J., Noureddine, M. A., Zuchner, S., Qin, X., Pericak-Vance, M. A., Vance, J. M. <strong>Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease.</strong> Am. J. Hum. Genet. 77: 252-264, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15986317/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15986317</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15986317[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/432588" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15986317">Oliveira et al. (2005)</a> identified 2 genes that were significantly associated with age at disease onset: EIF2B3 (<a href="/entry/606273">606273</a>) and USP24 (<a href="/entry/610569">610569</a>). P values for SNPs within these genes ranged from 0.007 to 0.0003 depending on the analysis used, with EIF2B showing stronger results. In addition, several SNPs in the HIVEP3 gene (<a href="/entry/606649">606649</a>) were associated with risk of development of PD (p = 0.002). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15986317" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Maraganore, D. M., de Andrade, M., Lesnick, T. G., Strain, K. J., Farrer, M. J., Rocca, W. A., Pant, P. V. K., Frazer, K. A., Cox, D. R., Ballinger, D. G. <strong>High-resolution whole-genome association study of Parkinson disease.</strong> Am. J. Hum. Genet. 77: 685-693, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16252231/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16252231</a>] [<a href="https://doi.org/10.1086/496902" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16252231">Maraganore et al. (2005)</a> performed a 2-tiered, genomewide association study of PD including 443 sib pairs discordant for PD and 332 case-unrelated control pairs. Among 11 SNPs that were borderline significant in both tiers (p less than 0.05), 2 SNPs (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs682705;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs682705</a> and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs7520966;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs7520966</a>) tagged the PARK10 locus and were located within the CDCP2 gene (<a href="/entry/612320">612320</a>). These SNPs yielded significant association with PD (p values of 9.07 x 10(-6) and 2.96 x 10(-5) with odds ratios of 0.66 and 0.67, respectively). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16252231" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Farrer, M. J., Haugarvoll, K., Ross, O. A., Stone, J. T., Milkovic, N. M., Cobb, S. A., Whittle, A. J., Lincoln, S. J., Hulihan, M. M., Heckman, M. G., White, L. R., Aasly, J. O., Gibson, J. M., Gosal, D., Lynch, T., Wszolek, Z. K., Uitti, R. J., Toft, M. <strong>Genomewide association, Parkinson disease, and PARK10. (Letter)</strong> Am. J. Hum. Genet. 78: 1084-1088, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16685661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16685661</a>] [<a href="https://doi.org/10.1086/504728" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16685661">Farrer et al. (2006)</a> found no association between PD and SNPs in the CDCP2 gene among a total of 1,570 patients from 3 cohorts of Norwegian, Irish, and American populations. <a href="#2" class="mim-tip-reference" title="Farrer, M. J., Haugarvoll, K., Ross, O. A., Stone, J. T., Milkovic, N. M., Cobb, S. A., Whittle, A. J., Lincoln, S. J., Hulihan, M. M., Heckman, M. G., White, L. R., Aasly, J. O., Gibson, J. M., Gosal, D., Lynch, T., Wszolek, Z. K., Uitti, R. J., Toft, M. <strong>Genomewide association, Parkinson disease, and PARK10. (Letter)</strong> Am. J. Hum. Genet. 78: 1084-1088, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16685661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16685661</a>] [<a href="https://doi.org/10.1086/504728" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16685661">Farrer et al. (2006)</a> stated that the findings of <a href="#9" class="mim-tip-reference" title="Maraganore, D. M., de Andrade, M., Lesnick, T. G., Strain, K. J., Farrer, M. J., Rocca, W. A., Pant, P. V. K., Frazer, K. A., Cox, D. R., Ballinger, D. G. <strong>High-resolution whole-genome association study of Parkinson disease.</strong> Am. J. Hum. Genet. 77: 685-693, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16252231/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16252231</a>] [<a href="https://doi.org/10.1086/496902" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16252231">Maraganore et al. (2005)</a> may be spurious. <a href="#3" class="mim-tip-reference" title="Goris, A., Williams-Gray, C. H., Foltynie, T., Compston, D. A. S., Barker, R. A., Sawcer, S. J. <strong>No evidence for association with Parkinson disease for 13 single-nucleotide polymorphisms identified by whole-genome association screening. (Letter)</strong> Am. J. Hum. Genet. 78: 1088-1090, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16685662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16685662</a>] [<a href="https://doi.org/10.1086/504726" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16685662">Goris et al. (2006)</a> also found no association between PD and any of the candidate SNPs identified by <a href="#9" class="mim-tip-reference" title="Maraganore, D. M., de Andrade, M., Lesnick, T. G., Strain, K. J., Farrer, M. J., Rocca, W. A., Pant, P. V. K., Frazer, K. A., Cox, D. R., Ballinger, D. G. <strong>High-resolution whole-genome association study of Parkinson disease.</strong> Am. J. Hum. Genet. 77: 685-693, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16252231/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16252231</a>] [<a href="https://doi.org/10.1086/496902" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16252231">Maraganore et al. (2005)</a> among 538 patients with PD. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16685662+16685661+16252231" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By examining CDCP2 SNPs in an expanded PD family dataset (293 multiplex and 467 singleton families) and a discordant sib-pair dataset, <a href="#8" class="mim-tip-reference" title="Li, Y. J., Deng, J., Mayhew, G. M., Grimsley, J. W., Huo, X., Vance, J. M. <strong>Investigation of the PARK10 gene in Parkinson disease.</strong> Ann. Hum. Genet. 71: 639-647, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17388942/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17388942</a>] [<a href="https://doi.org/10.1111/j.1469-1809.2007.00353.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17388942">Li et al. (2007)</a> found no significant association of CDCP2 with PD. They noted that the results confirmed previous negative findings for CDCP2 as a candidate PARK10 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17388942" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By SNP analysis of 266 multiplex PD families with additional genotyping in 377 singleton PD families, <a href="#10" class="mim-tip-reference" title="Noureddine, M. A., Qin, X.-J., Oliveira, S. A., Skelly, T. J., van der Walt, J., Hauser, M. A., Pericak-Vance, M. A., Vance, J. M., Li, Y.-J. <strong>Association between the neuron-specific RNA-binding protein ELAVL4 and Parkinson disease.</strong> Hum. Genet. 117: 27-33, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15827745/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15827745</a>] [<a href="https://doi.org/10.1007/s00439-005-1259-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15827745">Noureddine et al. (2005)</a> found a significant association between AAO in PD and 2 SNPs in the ELAVL4 gene (<a href="/entry/168360">168360</a>) on chromosome 1p34: <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs967582;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs967582</a> and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2494876;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs2494876</a> (p = 0.006 and p = 0.035, respectively, after Bonferroni correction). Several haplotypes defined by these and additional SNPs in the gene were also found to be associated with AAO. <a href="#10" class="mim-tip-reference" title="Noureddine, M. A., Qin, X.-J., Oliveira, S. A., Skelly, T. J., van der Walt, J., Hauser, M. A., Pericak-Vance, M. A., Vance, J. M., Li, Y.-J. <strong>Association between the neuron-specific RNA-binding protein ELAVL4 and Parkinson disease.</strong> Hum. Genet. 117: 27-33, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15827745/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15827745</a>] [<a href="https://doi.org/10.1007/s00439-005-1259-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15827745">Noureddine et al. (2005)</a> concluded that there may be a potential role for ELAVL4 as a modifier gene for AAO of PD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15827745" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Haugarvoll, K., Toft, M., Ross, O. A., Stone, J. T., Heckaman, M. F., White, L. R., Lynch, T., Gibson, J. M., Wszolek, Z. K., Uitti, R. J., Aasly, J. O., Farrer, M. J. <strong>ELAVL4, PARK10, and the Celts.</strong> Mov. Disord. 22: 585-587, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17230446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17230446</a>] [<a href="https://doi.org/10.1002/mds.21336" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17230446">Haugarvoll et al. (2007)</a> observed a significant association between susceptibility to PD and 2 SNPs in the ELAVL4 gene (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs967582;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs967582</a> and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs3902720;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs3902720</a>) among 372 Irish patients with PD. However, the data did not show an association with age at onset in this group. There was also no association between AAO or susceptibility to PD in cohorts of patients from Norway or the United States. <a href="#4" class="mim-tip-reference" title="Haugarvoll, K., Toft, M., Ross, O. A., Stone, J. T., Heckaman, M. F., White, L. R., Lynch, T., Gibson, J. M., Wszolek, Z. K., Uitti, R. J., Aasly, J. O., Farrer, M. J. <strong>ELAVL4, PARK10, and the Celts.</strong> Mov. Disord. 22: 585-587, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17230446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17230446</a>] [<a href="https://doi.org/10.1002/mds.21336" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17230446">Haugarvoll et al. (2007)</a> suggested that the findings among the Irish may be due to a Scandinavian/Celtic founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17230446" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Among 712 Caucasian PD patients and 312 controls, <a href="#1" class="mim-tip-reference" title="DeStefano, A.L., Latourelle, J., Lew, M. F., Suchowersky, O., Klein, C., Golbe, L. I., Mark, M. H., Growdon, J. H., Wooten, G. F., Watts, R., Guttman, M., Racette, B. A., and 35 others. <strong>Replication of association between ELAVL4 and Parkinson disease: the GenePD study.</strong> Hum. Genet. 124: 95-99, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18587682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18587682</a>] [<a href="https://doi.org/10.1007/s00439-008-0526-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18587682">DeStefano et al. (2008)</a> found that the minor C allele of <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs967582;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs967582</a> in the ELAVL4 gene was associated with increased risk of PD, yielding an odds ratio of 1.46 and p value of 0.011. However, the p value became 0.0999 after conservative Bonferroni correction. No association was observed for age at onset. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18587682" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Haugarvoll, K., Toft, M., Skipper, L., Heckman, M. G., Crook, J. E., Soto, A., Ross, O. A., Hulihan, M. M., Kachergus, J. M., Sando, S. B., White, L. R., Lynch, T., Gibson, J. M., Uitti, R. J., Wszolek, Z. K., Aasly, J. O., Farrer, M. J. <strong>Fine-mapping and candidate gene investigation within the PARK10 locus.</strong> Europ. J. Hum. Genet. 17: 336-343, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18854859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18854859</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18854859[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2008.187" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18854859">Haugarvoll et al. (2009)</a> genotyped SNPs across the PARK10 locus in 180 PD patients and 180 controls from central Norway, followed by candidate SNP genotyping of 186 PD patients and 186 controls from Ireland, and further SNP analysis of an extended series comprising 530 Norwegian PD patients and 1,142 controls, and 221 Irish and US PD patients and 221 controls. After correction for multiple testing, an association was found between PD and markers within the USP24 gene (combined OR of 0.78, p = 0.0007 at <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs13312;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs13312</a>; OR of 0.80, p = 0.0013 at <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs487230;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs487230</a>). Independently, the association for <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs13312;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs13312</a> was strongest in the extended Norwegian series (OR 0.76, p = 0.005), although this was not significant after correction for multiple testing. No marker showed consistent association with age at onset. The data suggested that genetic variability in USP24 may be associated with PD. No significant association was observed with SNPs in the HIVEP3, EIF2B3, or ELAVL4 genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18854859" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Wan, J. Y., Edwards, K. L., Hutter, C. M., Mata, I. F., Samii, A., Roberts, J. W., Agarwal, P., Checkoway, H., Farin, F. M., Yearout, D., Zabetian, C. P. <strong>Association mapping of the PARK10 region for Parkinson's disease susceptibility genes.</strong> Parkinsonism Relat. Disord. 20: 93-98, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24156912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24156912</a>] [<a href="https://doi.org/10.1016/j.parkreldis.2013.10.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24156912">Wan et al. (2014)</a> concluded that common variation in the PARK10 region on chromosome 1p32 is not associated with risk of Parkinson disease. Analysis of data from a large GWA study of 2,000 cases and 1,986 controls yielded data suggestive of an association with SNPs in the DAB1 gene (<a href="/entry/603448">603448</a>), but these results were not validated in a replication stage involving a total of 2,113 cases and 2,095 controls. In addition, metaanalyses across all datasets did not identify any genes within the PARK10 locus that showed association with disease susceptibility. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24156912" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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[<a href="https://doi.org/10.1007/s00439-008-0526-4" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/504728" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16685662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16685662</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16685662" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/504726" target="_blank">Full Text</a>]
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Haugarvoll, K., Toft, M., Ross, O. A., Stone, J. T., Heckaman, M. F., White, L. R., Lynch, T., Gibson, J. M., Wszolek, Z. K., Uitti, R. J., Aasly, J. O., Farrer, M. J.
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<strong>ELAVL4, PARK10, and the Celts.</strong>
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Mov. Disord. 22: 585-587, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17230446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17230446</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17230446" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/mds.21336" target="_blank">Full Text</a>]
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Haugarvoll, K., Toft, M., Skipper, L., Heckman, M. G., Crook, J. E., Soto, A., Ross, O. A., Hulihan, M. M., Kachergus, J. M., Sando, S. B., White, L. R., Lynch, T., Gibson, J. M., Uitti, R. J., Wszolek, Z. K., Aasly, J. O., Farrer, M. J.
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<strong>Fine-mapping and candidate gene investigation within the PARK10 locus.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18854859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18854859</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18854859[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18854859" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ejhg.2008.187" target="_blank">Full Text</a>]
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Hicks, A. A., Petursson, H., Jonsson, T., Stefansson, H., Johannsdottir, H. S., Sainz, J., Frigge, M. L., Kong, A., Gulcher, J. R., Stefansson, K., Sveinbjornsdottir, S.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12402251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12402251</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12402251" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.10324" target="_blank">Full Text</a>]
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Li, Y.-J., Scott, W. K., Hedges, D. J., Zhang, F., Gaskell, P. C., Nance, M. A., Watts, R. L., Hubble, J. P., Koller, W. C., Pahwa, R., Stern, M. B., Hiner, B. C., and 20 others.
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<strong>Age at onset in two common neurodegenerative diseases is genetically controlled.</strong>
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Am. J. Hum. Genet. 70: 985-993, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11875758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11875758</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11875758[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11875758" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/339815" target="_blank">Full Text</a>]
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Li, Y. J., Deng, J., Mayhew, G. M., Grimsley, J. W., Huo, X., Vance, J. M.
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<strong>Investigation of the PARK10 gene in Parkinson disease.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17388942/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17388942</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17388942" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1469-1809.2007.00353.x" target="_blank">Full Text</a>]
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Maraganore, D. M., de Andrade, M., Lesnick, T. G., Strain, K. J., Farrer, M. J., Rocca, W. A., Pant, P. V. K., Frazer, K. A., Cox, D. R., Ballinger, D. G.
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<strong>High-resolution whole-genome association study of Parkinson disease.</strong>
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Am. J. Hum. Genet. 77: 685-693, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16252231/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16252231</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16252231" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/496902" target="_blank">Full Text</a>]
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Noureddine, M. A., Qin, X.-J., Oliveira, S. A., Skelly, T. J., van der Walt, J., Hauser, M. A., Pericak-Vance, M. A., Vance, J. M., Li, Y.-J.
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<strong>Association between the neuron-specific RNA-binding protein ELAVL4 and Parkinson disease.</strong>
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Hum. Genet. 117: 27-33, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15827745/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15827745</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15827745" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00439-005-1259-2" target="_blank">Full Text</a>]
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Oliveira, S. A., Li, Y.-J., Noureddine, M. A., Zuchner, S., Qin, X., Pericak-Vance, M. A., Vance, J. M.
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<strong>Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease.</strong>
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Am. J. Hum. Genet. 77: 252-264, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15986317/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15986317</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15986317[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15986317" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/432588" target="_blank">Full Text</a>]
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Wan, J. Y., Edwards, K. L., Hutter, C. M., Mata, I. F., Samii, A., Roberts, J. W., Agarwal, P., Checkoway, H., Farin, F. M., Yearout, D., Zabetian, C. P.
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<strong>Association mapping of the PARK10 region for Parkinson's disease susceptibility genes.</strong>
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Parkinsonism Relat. Disord. 20: 93-98, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24156912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24156912</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24156912" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.parkreldis.2013.10.001" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 1/30/2014
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Cassandra L. Kniffin - updated : 9/25/2009<br>Cassandra L. Kniffin - updated : 2/2/2009<br>Cassandra L. Kniffin - updated : 9/29/2008<br>Cassandra L. Kniffin - updated : 12/30/2002
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Creation Date:
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Victor A. McKusick : 4/15/2002
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carol : 03/14/2016
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carol : 1/30/2016<br>mgross : 1/30/2014<br>ckniffin : 1/30/2014<br>carol : 7/30/2010<br>wwang : 10/15/2009<br>ckniffin : 9/25/2009<br>wwang : 2/6/2009<br>ckniffin : 2/2/2009<br>carol : 9/30/2008<br>ckniffin : 9/29/2008<br>alopez : 8/18/2006<br>alopez : 3/17/2004<br>cwells : 1/7/2003<br>ckniffin : 12/30/2002<br>alopez : 4/15/2002
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<strong>%</strong> 606852
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<h3>
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PARKINSON DISEASE 10; PARK10
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PARKINSON DISEASE, AGE AT ONSET OF; AAOPD
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<strong>ORPHA:</strong> 2828;
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<strong>
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Cytogenetic location: 1p32
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:50,200,001-60,800,000 </span>
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<strong>Gene-Phenotype Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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<span class="mim-font">
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1p32
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<span class="mim-font">
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{Parkinson disease 10}
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<span class="mim-font">
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606852
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<span class="mim-font">
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2
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see 168600.</p>
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<span class="mim-font">
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<strong>Mapping</strong>
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<p>Li et al. (2002) performed a genomic screen for age at onset (AAO) of Parkinson disease (168600), studying 174 families. Heritabilities between 40% and 60% were found. Significant evidence was found for linkage of AAO in Parkinson disease on 1p (lod = 3.41). </p><p>Using 781 microsatellite markers, Hicks et al. (2002) performed a genomewide scan on 117 Icelandic patients with classic late-onset Parkinson disease (mean age of onset 65.8 years) and 168 of their unaffected relatives from 51 families. They found linkage to chromosome 1p32, and further analysis yielded a lod score of 4.9 near marker D1S2652 within a 7.6-cM segment. The authors designated this locus PARK10. </p><p>By SNP analysis of 267 families with PD, 83 of whom were positively linked to chromosome 1p, Oliveira et al. (2005) identified 2 genes that were significantly associated with age at disease onset: EIF2B3 (606273) and USP24 (610569). P values for SNPs within these genes ranged from 0.007 to 0.0003 depending on the analysis used, with EIF2B showing stronger results. In addition, several SNPs in the HIVEP3 gene (606649) were associated with risk of development of PD (p = 0.002). </p><p>Maraganore et al. (2005) performed a 2-tiered, genomewide association study of PD including 443 sib pairs discordant for PD and 332 case-unrelated control pairs. Among 11 SNPs that were borderline significant in both tiers (p less than 0.05), 2 SNPs (rs682705 and rs7520966) tagged the PARK10 locus and were located within the CDCP2 gene (612320). These SNPs yielded significant association with PD (p values of 9.07 x 10(-6) and 2.96 x 10(-5) with odds ratios of 0.66 and 0.67, respectively). </p><p>Farrer et al. (2006) found no association between PD and SNPs in the CDCP2 gene among a total of 1,570 patients from 3 cohorts of Norwegian, Irish, and American populations. Farrer et al. (2006) stated that the findings of Maraganore et al. (2005) may be spurious. Goris et al. (2006) also found no association between PD and any of the candidate SNPs identified by Maraganore et al. (2005) among 538 patients with PD. </p><p>By examining CDCP2 SNPs in an expanded PD family dataset (293 multiplex and 467 singleton families) and a discordant sib-pair dataset, Li et al. (2007) found no significant association of CDCP2 with PD. They noted that the results confirmed previous negative findings for CDCP2 as a candidate PARK10 gene. </p><p>By SNP analysis of 266 multiplex PD families with additional genotyping in 377 singleton PD families, Noureddine et al. (2005) found a significant association between AAO in PD and 2 SNPs in the ELAVL4 gene (168360) on chromosome 1p34: rs967582 and rs2494876 (p = 0.006 and p = 0.035, respectively, after Bonferroni correction). Several haplotypes defined by these and additional SNPs in the gene were also found to be associated with AAO. Noureddine et al. (2005) concluded that there may be a potential role for ELAVL4 as a modifier gene for AAO of PD. </p><p>Haugarvoll et al. (2007) observed a significant association between susceptibility to PD and 2 SNPs in the ELAVL4 gene (rs967582 and rs3902720) among 372 Irish patients with PD. However, the data did not show an association with age at onset in this group. There was also no association between AAO or susceptibility to PD in cohorts of patients from Norway or the United States. Haugarvoll et al. (2007) suggested that the findings among the Irish may be due to a Scandinavian/Celtic founder effect. </p><p>Among 712 Caucasian PD patients and 312 controls, DeStefano et al. (2008) found that the minor C allele of rs967582 in the ELAVL4 gene was associated with increased risk of PD, yielding an odds ratio of 1.46 and p value of 0.011. However, the p value became 0.0999 after conservative Bonferroni correction. No association was observed for age at onset. </p><p>Haugarvoll et al. (2009) genotyped SNPs across the PARK10 locus in 180 PD patients and 180 controls from central Norway, followed by candidate SNP genotyping of 186 PD patients and 186 controls from Ireland, and further SNP analysis of an extended series comprising 530 Norwegian PD patients and 1,142 controls, and 221 Irish and US PD patients and 221 controls. After correction for multiple testing, an association was found between PD and markers within the USP24 gene (combined OR of 0.78, p = 0.0007 at rs13312; OR of 0.80, p = 0.0013 at rs487230). Independently, the association for rs13312 was strongest in the extended Norwegian series (OR 0.76, p = 0.005), although this was not significant after correction for multiple testing. No marker showed consistent association with age at onset. The data suggested that genetic variability in USP24 may be associated with PD. No significant association was observed with SNPs in the HIVEP3, EIF2B3, or ELAVL4 genes. </p><p>Wan et al. (2014) concluded that common variation in the PARK10 region on chromosome 1p32 is not associated with risk of Parkinson disease. Analysis of data from a large GWA study of 2,000 cases and 1,986 controls yielded data suggestive of an association with SNPs in the DAB1 gene (603448), but these results were not validated in a replication stage involving a total of 2,113 cases and 2,095 controls. In addition, metaanalyses across all datasets did not identify any genes within the PARK10 locus that showed association with disease susceptibility. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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DeStefano, A.L., Latourelle, J., Lew, M. F., Suchowersky, O., Klein, C., Golbe, L. I., Mark, M. H., Growdon, J. H., Wooten, G. F., Watts, R., Guttman, M., Racette, B. A., and 35 others.
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<strong>Replication of association between ELAVL4 and Parkinson disease: the GenePD study.</strong>
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Hum. Genet. 124: 95-99, 2008.
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[PubMed: 18587682]
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[Full Text: https://doi.org/10.1007/s00439-008-0526-4]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Farrer, M. J., Haugarvoll, K., Ross, O. A., Stone, J. T., Milkovic, N. M., Cobb, S. A., Whittle, A. J., Lincoln, S. J., Hulihan, M. M., Heckman, M. G., White, L. R., Aasly, J. O., Gibson, J. M., Gosal, D., Lynch, T., Wszolek, Z. K., Uitti, R. J., Toft, M.
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<strong>Genomewide association, Parkinson disease, and PARK10. (Letter)</strong>
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Am. J. Hum. Genet. 78: 1084-1088, 2006.
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[PubMed: 16685661]
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[Full Text: https://doi.org/10.1086/504728]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Goris, A., Williams-Gray, C. H., Foltynie, T., Compston, D. A. S., Barker, R. A., Sawcer, S. J.
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<strong>No evidence for association with Parkinson disease for 13 single-nucleotide polymorphisms identified by whole-genome association screening. (Letter)</strong>
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Am. J. Hum. Genet. 78: 1088-1090, 2006.
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[PubMed: 16685662]
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[Full Text: https://doi.org/10.1086/504726]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Haugarvoll, K., Toft, M., Ross, O. A., Stone, J. T., Heckaman, M. F., White, L. R., Lynch, T., Gibson, J. M., Wszolek, Z. K., Uitti, R. J., Aasly, J. O., Farrer, M. J.
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<strong>ELAVL4, PARK10, and the Celts.</strong>
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Mov. Disord. 22: 585-587, 2007.
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[PubMed: 17230446]
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[Full Text: https://doi.org/10.1002/mds.21336]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Haugarvoll, K., Toft, M., Skipper, L., Heckman, M. G., Crook, J. E., Soto, A., Ross, O. A., Hulihan, M. M., Kachergus, J. M., Sando, S. B., White, L. R., Lynch, T., Gibson, J. M., Uitti, R. J., Wszolek, Z. K., Aasly, J. O., Farrer, M. J.
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<strong>Fine-mapping and candidate gene investigation within the PARK10 locus.</strong>
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Europ. J. Hum. Genet. 17: 336-343, 2009.
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[PubMed: 18854859]
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[Full Text: https://doi.org/10.1038/ejhg.2008.187]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hicks, A. A., Petursson, H., Jonsson, T., Stefansson, H., Johannsdottir, H. S., Sainz, J., Frigge, M. L., Kong, A., Gulcher, J. R., Stefansson, K., Sveinbjornsdottir, S.
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<strong>A susceptibility gene for late-onset idiopathic Parkinson's disease.</strong>
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Ann. Neurol. 52: 549-555, 2002.
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[PubMed: 12402251]
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[Full Text: https://doi.org/10.1002/ana.10324]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Li, Y.-J., Scott, W. K., Hedges, D. J., Zhang, F., Gaskell, P. C., Nance, M. A., Watts, R. L., Hubble, J. P., Koller, W. C., Pahwa, R., Stern, M. B., Hiner, B. C., and 20 others.
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<strong>Age at onset in two common neurodegenerative diseases is genetically controlled.</strong>
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Am. J. Hum. Genet. 70: 985-993, 2002.
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[PubMed: 11875758]
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[Full Text: https://doi.org/10.1086/339815]
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</li>
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<li>
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<p class="mim-text-font">
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Li, Y. J., Deng, J., Mayhew, G. M., Grimsley, J. W., Huo, X., Vance, J. M.
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<strong>Investigation of the PARK10 gene in Parkinson disease.</strong>
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Ann. Hum. Genet. 71: 639-647, 2007.
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[PubMed: 17388942]
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[Full Text: https://doi.org/10.1111/j.1469-1809.2007.00353.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Maraganore, D. M., de Andrade, M., Lesnick, T. G., Strain, K. J., Farrer, M. J., Rocca, W. A., Pant, P. V. K., Frazer, K. A., Cox, D. R., Ballinger, D. G.
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<strong>High-resolution whole-genome association study of Parkinson disease.</strong>
|
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Am. J. Hum. Genet. 77: 685-693, 2005.
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[PubMed: 16252231]
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[Full Text: https://doi.org/10.1086/496902]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Noureddine, M. A., Qin, X.-J., Oliveira, S. A., Skelly, T. J., van der Walt, J., Hauser, M. A., Pericak-Vance, M. A., Vance, J. M., Li, Y.-J.
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<strong>Association between the neuron-specific RNA-binding protein ELAVL4 and Parkinson disease.</strong>
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Hum. Genet. 117: 27-33, 2005.
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[PubMed: 15827745]
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[Full Text: https://doi.org/10.1007/s00439-005-1259-2]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Oliveira, S. A., Li, Y.-J., Noureddine, M. A., Zuchner, S., Qin, X., Pericak-Vance, M. A., Vance, J. M.
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<strong>Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease.</strong>
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Am. J. Hum. Genet. 77: 252-264, 2005.
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[PubMed: 15986317]
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[Full Text: https://doi.org/10.1086/432588]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Wan, J. Y., Edwards, K. L., Hutter, C. M., Mata, I. F., Samii, A., Roberts, J. W., Agarwal, P., Checkoway, H., Farin, F. M., Yearout, D., Zabetian, C. P.
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<strong>Association mapping of the PARK10 region for Parkinson's disease susceptibility genes.</strong>
|
|
Parkinsonism Relat. Disord. 20: 93-98, 2014.
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[PubMed: 24156912]
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[Full Text: https://doi.org/10.1016/j.parkreldis.2013.10.001]
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Cassandra L. Kniffin - updated : 1/30/2014<br>Cassandra L. Kniffin - updated : 9/25/2009<br>Cassandra L. Kniffin - updated : 2/2/2009<br>Cassandra L. Kniffin - updated : 9/29/2008<br>Cassandra L. Kniffin - updated : 12/30/2002
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Victor A. McKusick : 4/15/2002
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