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<title>
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Entry
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- %613164 - PARKINSON DISEASE 16; PARK16
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- OMIM
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<span class="h4">%613164</span>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="/phenotypicSeries/PS168600"> <strong>Phenotypic Series</strong> </a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</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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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div id="mimFloatingLinksMenu">
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<h4 class="panel-title">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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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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</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=100359403" 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+100359403" 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/100359403" 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 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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<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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<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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<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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<div>
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<span class="h3">
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<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>
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613164
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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>
|
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<span class="mim-font">
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PARKINSON DISEASE 16; PARK16
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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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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
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Cytogenetic location: <a href="/geneMap/1/1546?start=-3&limit=10&highlight=1546">1q32</a>
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|
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:198700001-214400000&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'})">1:198,700,001-214,400,000</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>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
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</div>
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<div>
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<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>
|
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<th>
|
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Phenotype
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</th>
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<th>
|
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/1/1546?start=-3&limit=10&highlight=1546">
|
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1q32
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</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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{Parkinson disease 16}
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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/613164"> 613164 </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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<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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<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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|
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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')">
|
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<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">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/613164" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/613164" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</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>
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Parkinson disease
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- <a href="/phenotypicSeries/PS168600">PS168600</a>
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- 34 Entries
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</h5>
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</div>
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</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
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<thead>
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<tr>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Location</strong>
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</th>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
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<strong>Phenotype</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Inheritance</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />mapping key</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />MIM number</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus<br />MIM number</strong>
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</th>
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</tr>
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</thead>
|
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<tbody>
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|
|
<tr>
|
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<td>
|
|
<span class="mim-font">
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|
|
<a href="/geneMap/1/115?start=-3&limit=10&highlight=115"> 1p36.23 </a>
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|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606324"> Parkinson disease 7, autosomal recessive early-onset </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
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|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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|
|
</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>
|
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<td>
|
|
<span class="mim-font">
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|
|
<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>
|
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</td>
|
|
</tr>
|
|
|
|
<tr>
|
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<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>
|
|
<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/607060"> 607060 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609007"> LRRK2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609007"> 609007 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/813?start=-3&limit=10&highlight=813"> 12q24.12 </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>
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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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<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>
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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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<span class="mim-font">
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<a href="/entry/168600"> {Parkinson disease, susceptibility to} </a>
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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 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/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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<span class="mim-font">
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<a href="/entry/603680"> 603680 </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/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>
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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/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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<tr>
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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>
|
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<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>
|
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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<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">
|
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<a href="/entry/614203"> 614203 </a>
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
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<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>
|
|
</td>
|
|
</tr>
|
|
|
|
<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">
|
|
<a href="/entry/615530"> 615530 </a>
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604297"> SYNJ1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604297"> 604297 </a>
|
|
</span>
|
|
</td>
|
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</tr>
|
|
|
|
<tr>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<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>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</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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|
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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/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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<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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</td>
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</tr>
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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>
|
|
<td>
|
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<span class="mim-font">
|
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<a href="/entry/612953"> Parkinson disease 14, autosomal recessive </a>
|
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</span>
|
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</td>
|
|
<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
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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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|
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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>
|
|
</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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<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>
|
|
</td>
|
|
<td>
|
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<span class="mim-font">
|
|
<a href="/entry/300557"> {Parkinson disease 12} </a>
|
|
</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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<td>
|
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<span class="mim-font">
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<a href="/entry/300557"> 300557 </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"> 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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</span>
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</td>
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</tbody>
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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, see PD (<a href="/entry/168600">168600</a>).</p>
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<br />
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<a id="mapping" class="mim-anchor"></a>
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<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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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="#2" class="mim-tip-reference" title="Satake, W., Nakabayashi, Y., Mizuta, I., Hirota, Y., Ito, C., Kubo, M., Kawaguchi, T., Tsunoda, T., Watanabe, M., Takeda, A., Tomiyama, H., Nakashima, K., and 10 others. <strong>Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. (Letter)</strong> Nature Genet. 41: 1303-1307, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19915576/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19915576</a>] [<a href="https://doi.org/10.1038/ng.485" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19915576">Satake et al. (2009)</a> performed a large genomewide association study in the Japanese population involving a discovery cohort of 1,078 patients with Parkinson disease and 2,628 controls followed by replication in 612 cases and 14,139 controls and second replication in 321 cases and 1,614 controls. They identified 2 novel susceptibility loci with genomewide significance on chromosomes on 1q32, designated PARK16, and 4p15. On chromosome 1q32, <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs947211;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs947211</a> showed the strongest association with PD (p = 1.52 x 10(-12), odds ratio (OR) = 1.30). This SNP is located 8.5 kb upstream of RAB7L1 (<a href="/entry/603949">603949</a>) and 5.6 kb downstream of SLC41A1 (<a href="/entry/610801">610801</a>). SNPs with significant associations to PD were found to lie within several linkage disequilibrium blocks containing 5 genes: SLC45A3 (<a href="/entry/605097">605097</a>), NUCKS1 (<a href="/entry/611912">611912</a>), RAB7L1, SLC41A1, and PM20D1 (<a href="/entry/617124">617124</a>). NUCKS1, RAB7L1, and SLC41A1 were contained in the same linkage disequilibrium block. The results suggested that the PARK16 locus has multiple independent association signals. <a href="#2" class="mim-tip-reference" title="Satake, W., Nakabayashi, Y., Mizuta, I., Hirota, Y., Ito, C., Kubo, M., Kawaguchi, T., Tsunoda, T., Watanabe, M., Takeda, A., Tomiyama, H., Nakashima, K., and 10 others. <strong>Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. (Letter)</strong> Nature Genet. 41: 1303-1307, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19915576/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19915576</a>] [<a href="https://doi.org/10.1038/ng.485" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19915576">Satake et al. (2009)</a> also found strong associations with the SNCA gene (<a href="/entry/163890">163890</a>) on 4q22 (p = 7.35 x 10(-17)) and the LRRK2 gene (<a href="/entry/609007">609007</a>) on 12q12 (p = 2.72 x 10(-8)), both of which are implicated in autosomal dominant forms of parkinsonism (PARK1, <a href="/entry/168601">168601</a> and PARK8, <a href="/entry/607060">607060</a>, respectively). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19915576" 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="#3" class="mim-tip-reference" title="Simon-Sanchez, J., Schulte, C., Bras, J. M., Sharma, M., Gibbs, J. R., Berg, D., Paisan-Ruiz, C., Lichtner, P., Scholz, S. W., Hernandez, D. G., Kruger, R., Federoff, M., and 35 others. <strong>Genome-wide association study reveals genetic risk underlying Parkinson's disease. (Letter)</strong> Nature Genet. 41: 1308-1312, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19915575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19915575</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19915575[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/ng.487" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19915575">Simon-Sanchez et al. (2009)</a> performed genomewide association studies in 1,713 individuals of European ancestry with PD and 3,978 controls, followed by replication in 3,361 cases and 4,573 controls. In collaboration with <a href="#2" class="mim-tip-reference" title="Satake, W., Nakabayashi, Y., Mizuta, I., Hirota, Y., Ito, C., Kubo, M., Kawaguchi, T., Tsunoda, T., Watanabe, M., Takeda, A., Tomiyama, H., Nakashima, K., and 10 others. <strong>Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. (Letter)</strong> Nature Genet. 41: 1303-1307, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19915576/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19915576</a>] [<a href="https://doi.org/10.1038/ng.485" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19915576">Satake et al. (2009)</a>, <a href="#3" class="mim-tip-reference" title="Simon-Sanchez, J., Schulte, C., Bras, J. M., Sharma, M., Gibbs, J. R., Berg, D., Paisan-Ruiz, C., Lichtner, P., Scholz, S. W., Hernandez, D. G., Kruger, R., Federoff, M., and 35 others. <strong>Genome-wide association study reveals genetic risk underlying Parkinson's disease. (Letter)</strong> Nature Genet. 41: 1308-1312, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19915575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19915575</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19915575[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/ng.487" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19915575">Simon-Sanchez et al. (2009)</a> replicated the effect of the PARK16 locus (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs823128;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs823128</a>, OR = 0.66, p = 7.29 x 10(-8)), and found supporting evidence that common variation around LRRK2 modulates risk for PD (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1491923;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1491923</a>, OR = 1.14, p = 1.55 x 10(-5)). However, association with the putative locus on 4p15 was not found in the European population. Overall, the data from both studies showed a role for common genetic variants in the etiology of typical PD, and suggested population-specific genetic heterogeneity in this disease. <a href="#3" class="mim-tip-reference" title="Simon-Sanchez, J., Schulte, C., Bras, J. M., Sharma, M., Gibbs, J. R., Berg, D., Paisan-Ruiz, C., Lichtner, P., Scholz, S. W., Hernandez, D. G., Kruger, R., Federoff, M., and 35 others. <strong>Genome-wide association study reveals genetic risk underlying Parkinson's disease. (Letter)</strong> Nature Genet. 41: 1308-1312, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19915575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19915575</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19915575[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/ng.487" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19915575">Simon-Sanchez et al. (2009)</a> also identified association signals in the SNCA gene (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2736990;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs2736990</a>, OR = 1.23, p = 2.24 x 10(-16)) and the MAPT gene (<a href="/entry/157140">157140</a>) on 17q21 (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs393152;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs393152</a>, OR = 0.77, p = 1.95 x 10(-16)). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19915576+19915575" 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="Tan, E.-K., Kwok, H.-H., Tan, L. C., Zhao, W.-T., Prakash, K. M., Au, W.-L., Pavanni, R., Ng, Y.-Y., Satake, W., Zhao, Y., Toda, T., Liu, J.-J. <strong>Analysis of GWAS-linked loci in Parkinson disease reaffirms PARK16 as a susceptibility locus.</strong> Neurology 75: 508-512, 2010. Note: Erratum: Neurology 75: 1399 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20697102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20697102</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181eccfcd" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20697102">Tan et al. (2010)</a> specifically analyzed 5 SNPs at the PARK16 locus in 433 PD patients and 916 controls, all of Chinese ethnicity. Significant disease associations were found for 3 SNPS: <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs11240572;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs11240572</a>, <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs823128;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs823128</a>, and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs823156;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs823156</a> with the most significant association at <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs823156;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs823156</a> (corrected p = 0.0161; OR, 0.77). However, <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs16856139;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs16856139</a> and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs947211;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs947211</a> failed to reach significance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20697102" 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="Vilarino-Guell, C., Ross, O. A., Aasly, J. O., White, L. R., Rajput, A., Rajput, A. H., Lynch, T., Krygowska-Wajs, A., Jasinska-Myga, B., Opala, G., Barcikowska, M., Lee, M.-C., Hentati, F., Uitti, R. J., Wszolek, Z. K., Farrer, M. J., Wu, R.-M. <strong>An independent replication of PARK16 in Asian samples.</strong> Neurology 75: 2248-2249, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21172849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21172849</a>] [<a href="https://doi.org/10.1212/WNL.0b013e318202031f" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21172849">Vilarino-Guell et al. (2010)</a> replicated the association between Parkinson disease and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs823128;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs823128</a> in a cohort of 315 Taiwanese patients and 247 Taiwanese controls (p = 0.015). However, the association with this SNP was not significant in patients of European origin or those from Tunisia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21172849" 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="#1" class="mim-tip-reference" title="Mata, I. F., Yearout, D., Alvarez, V., Coto, E., de Mena, L., Ribacoba, R., Lorenzo-Betancor, O., Samaranch, L., Pastor, P., Cervantes, S., Infante, J., Garcia-Gorostiaga, I., Sierra, M., Combarros, O., Snapinn, K. W., Edwards, K. L., Zabetian, C. P. <strong>Replication of MAPT and SNCA, but not PARK16-18, as susceptibility genes for Parkinson's disease.</strong> Mov. Disord. 26: 819-823, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21425343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21425343</a>] [<a href="https://doi.org/10.1002/mds.23642" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21425343">Mata et al. (2011)</a> failed to find an association between <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs823156;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs823156</a> or <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs947211;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs947211</a> on chromosome 1q32 in a case-control study of 1,445 PD patients and 1,161 controls from northern Spain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21425343" 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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For discussion of a possible association between early-onset Parkinson disease with cognitive dysfunction and variation in the ADORA1 gene on chromosome 1q32, see <a href="/entry/102775#0001">102775.0001</a>.</p>
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Mata, I. F., Yearout, D., Alvarez, V., Coto, E., de Mena, L., Ribacoba, R., Lorenzo-Betancor, O., Samaranch, L., Pastor, P., Cervantes, S., Infante, J., Garcia-Gorostiaga, I., Sierra, M., Combarros, O., Snapinn, K. W., Edwards, K. L., Zabetian, C. P.
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<strong>Replication of MAPT and SNCA, but not PARK16-18, as susceptibility genes for Parkinson's disease.</strong>
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Mov. Disord. 26: 819-823, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21425343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21425343</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21425343" 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.23642" target="_blank">Full Text</a>]
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Satake, W., Nakabayashi, Y., Mizuta, I., Hirota, Y., Ito, C., Kubo, M., Kawaguchi, T., Tsunoda, T., Watanabe, M., Takeda, A., Tomiyama, H., Nakashima, K., and 10 others.
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<strong>Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. (Letter)</strong>
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Nature Genet. 41: 1303-1307, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19915576/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19915576</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19915576" 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/ng.485" target="_blank">Full Text</a>]
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Simon-Sanchez, J., Schulte, C., Bras, J. M., Sharma, M., Gibbs, J. R., Berg, D., Paisan-Ruiz, C., Lichtner, P., Scholz, S. W., Hernandez, D. G., Kruger, R., Federoff, M., and 35 others.
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<strong>Genome-wide association study reveals genetic risk underlying Parkinson's disease. (Letter)</strong>
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Nature Genet. 41: 1308-1312, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19915575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19915575</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19915575[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=19915575" 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/ng.487" target="_blank">Full Text</a>]
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Tan, E.-K., Kwok, H.-H., Tan, L. C., Zhao, W.-T., Prakash, K. M., Au, W.-L., Pavanni, R., Ng, Y.-Y., Satake, W., Zhao, Y., Toda, T., Liu, J.-J.
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<strong>Analysis of GWAS-linked loci in Parkinson disease reaffirms PARK16 as a susceptibility locus.</strong>
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Neurology 75: 508-512, 2010. Note: Erratum: Neurology 75: 1399 only, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20697102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20697102</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20697102" 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/10.1212/WNL.0b013e3181eccfcd" target="_blank">Full Text</a>]
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Vilarino-Guell, C., Ross, O. A., Aasly, J. O., White, L. R., Rajput, A., Rajput, A. H., Lynch, T., Krygowska-Wajs, A., Jasinska-Myga, B., Opala, G., Barcikowska, M., Lee, M.-C., Hentati, F., Uitti, R. J., Wszolek, Z. K., Farrer, M. J., Wu, R.-M.
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<strong>An independent replication of PARK16 in Asian samples.</strong>
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Neurology 75: 2248-2249, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21172849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21172849</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21172849" 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/10.1212/WNL.0b013e318202031f" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 9/8/2011
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Cassandra L. Kniffin - updated : 1/31/2011<br>Cassandra L. Kniffin - updated : 10/22/2010
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Cassandra L. Kniffin : 12/1/2009
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carol : 02/22/2017
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ckniffin : 02/20/2017<br>mgross : 09/20/2016<br>terry : 05/17/2012<br>carol : 9/12/2011<br>ckniffin : 9/8/2011<br>wwang : 3/10/2011<br>ckniffin : 1/31/2011<br>carol : 1/28/2011<br>terry : 11/5/2010<br>wwang : 11/2/2010<br>ckniffin : 10/22/2010<br>alopez : 1/4/2010<br>ckniffin : 12/11/2009
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<strong>%</strong> 613164
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PARKINSON DISEASE 16; PARK16
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Cytogenetic location: 1q32
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:198,700,001-214,400,000 </span>
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{Parkinson disease 16}
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613164
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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, see PD (168600).</p>
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<p>Satake et al. (2009) performed a large genomewide association study in the Japanese population involving a discovery cohort of 1,078 patients with Parkinson disease and 2,628 controls followed by replication in 612 cases and 14,139 controls and second replication in 321 cases and 1,614 controls. They identified 2 novel susceptibility loci with genomewide significance on chromosomes on 1q32, designated PARK16, and 4p15. On chromosome 1q32, rs947211 showed the strongest association with PD (p = 1.52 x 10(-12), odds ratio (OR) = 1.30). This SNP is located 8.5 kb upstream of RAB7L1 (603949) and 5.6 kb downstream of SLC41A1 (610801). SNPs with significant associations to PD were found to lie within several linkage disequilibrium blocks containing 5 genes: SLC45A3 (605097), NUCKS1 (611912), RAB7L1, SLC41A1, and PM20D1 (617124). NUCKS1, RAB7L1, and SLC41A1 were contained in the same linkage disequilibrium block. The results suggested that the PARK16 locus has multiple independent association signals. Satake et al. (2009) also found strong associations with the SNCA gene (163890) on 4q22 (p = 7.35 x 10(-17)) and the LRRK2 gene (609007) on 12q12 (p = 2.72 x 10(-8)), both of which are implicated in autosomal dominant forms of parkinsonism (PARK1, 168601 and PARK8, 607060, respectively). </p><p>Simon-Sanchez et al. (2009) performed genomewide association studies in 1,713 individuals of European ancestry with PD and 3,978 controls, followed by replication in 3,361 cases and 4,573 controls. In collaboration with Satake et al. (2009), Simon-Sanchez et al. (2009) replicated the effect of the PARK16 locus (rs823128, OR = 0.66, p = 7.29 x 10(-8)), and found supporting evidence that common variation around LRRK2 modulates risk for PD (rs1491923, OR = 1.14, p = 1.55 x 10(-5)). However, association with the putative locus on 4p15 was not found in the European population. Overall, the data from both studies showed a role for common genetic variants in the etiology of typical PD, and suggested population-specific genetic heterogeneity in this disease. Simon-Sanchez et al. (2009) also identified association signals in the SNCA gene (rs2736990, OR = 1.23, p = 2.24 x 10(-16)) and the MAPT gene (157140) on 17q21 (rs393152, OR = 0.77, p = 1.95 x 10(-16)). </p><p>Tan et al. (2010) specifically analyzed 5 SNPs at the PARK16 locus in 433 PD patients and 916 controls, all of Chinese ethnicity. Significant disease associations were found for 3 SNPS: rs11240572, rs823128, and rs823156 with the most significant association at rs823156 (corrected p = 0.0161; OR, 0.77). However, rs16856139 and rs947211 failed to reach significance. </p><p>Vilarino-Guell et al. (2010) replicated the association between Parkinson disease and rs823128 in a cohort of 315 Taiwanese patients and 247 Taiwanese controls (p = 0.015). However, the association with this SNP was not significant in patients of European origin or those from Tunisia. </p><p>Mata et al. (2011) failed to find an association between rs823156 or rs947211 on chromosome 1q32 in a case-control study of 1,445 PD patients and 1,161 controls from northern Spain. </p>
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<strong>Molecular Genetics</strong>
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<p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between early-onset Parkinson disease with cognitive dysfunction and variation in the ADORA1 gene on chromosome 1q32, see 102775.0001.</p>
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<strong>REFERENCES</strong>
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Mata, I. F., Yearout, D., Alvarez, V., Coto, E., de Mena, L., Ribacoba, R., Lorenzo-Betancor, O., Samaranch, L., Pastor, P., Cervantes, S., Infante, J., Garcia-Gorostiaga, I., Sierra, M., Combarros, O., Snapinn, K. W., Edwards, K. L., Zabetian, C. P.
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<strong>Replication of MAPT and SNCA, but not PARK16-18, as susceptibility genes for Parkinson's disease.</strong>
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Mov. Disord. 26: 819-823, 2011.
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[PubMed: 21425343]
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[Full Text: https://doi.org/10.1002/mds.23642]
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Satake, W., Nakabayashi, Y., Mizuta, I., Hirota, Y., Ito, C., Kubo, M., Kawaguchi, T., Tsunoda, T., Watanabe, M., Takeda, A., Tomiyama, H., Nakashima, K., and 10 others.
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<strong>Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. (Letter)</strong>
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Nature Genet. 41: 1303-1307, 2009.
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[PubMed: 19915576]
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[Full Text: https://doi.org/10.1038/ng.485]
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Simon-Sanchez, J., Schulte, C., Bras, J. M., Sharma, M., Gibbs, J. R., Berg, D., Paisan-Ruiz, C., Lichtner, P., Scholz, S. W., Hernandez, D. G., Kruger, R., Federoff, M., and 35 others.
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<strong>Genome-wide association study reveals genetic risk underlying Parkinson's disease. (Letter)</strong>
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Nature Genet. 41: 1308-1312, 2009.
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[PubMed: 19915575]
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[Full Text: https://doi.org/10.1038/ng.487]
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Tan, E.-K., Kwok, H.-H., Tan, L. C., Zhao, W.-T., Prakash, K. M., Au, W.-L., Pavanni, R., Ng, Y.-Y., Satake, W., Zhao, Y., Toda, T., Liu, J.-J.
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<strong>Analysis of GWAS-linked loci in Parkinson disease reaffirms PARK16 as a susceptibility locus.</strong>
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Neurology 75: 508-512, 2010. Note: Erratum: Neurology 75: 1399 only, 2010.
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[PubMed: 20697102]
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[Full Text: https://doi.org/10.1212/WNL.0b013e3181eccfcd]
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Vilarino-Guell, C., Ross, O. A., Aasly, J. O., White, L. R., Rajput, A., Rajput, A. H., Lynch, T., Krygowska-Wajs, A., Jasinska-Myga, B., Opala, G., Barcikowska, M., Lee, M.-C., Hentati, F., Uitti, R. J., Wszolek, Z. K., Farrer, M. J., Wu, R.-M.
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<strong>An independent replication of PARK16 in Asian samples.</strong>
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Neurology 75: 2248-2249, 2010.
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[PubMed: 21172849]
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[Full Text: https://doi.org/10.1212/WNL.0b013e318202031f]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Cassandra L. Kniffin - updated : 9/8/2011<br>Cassandra L. Kniffin - updated : 1/31/2011<br>Cassandra L. Kniffin - updated : 10/22/2010
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Cassandra L. Kniffin : 12/1/2009
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Edit History:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/22/2017<br>ckniffin : 02/20/2017<br>mgross : 09/20/2016<br>terry : 05/17/2012<br>carol : 9/12/2011<br>ckniffin : 9/8/2011<br>wwang : 3/10/2011<br>ckniffin : 1/31/2011<br>carol : 1/28/2011<br>terry : 11/5/2010<br>wwang : 11/2/2010<br>ckniffin : 10/22/2010<br>alopez : 1/4/2010<br>ckniffin : 12/11/2009
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