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<a href="?index=entry&search=102565+123590+125660+300163+601419+603883+604103+605906+608810+609200+609452+609524+611332&field=number&sort=score+desc&start=2&limit=10"> Last » </a>
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1:
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<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<a href="/entry/102565?search=102565%20123590%20125660%20300163%20601419%20603883%20604103%20605906%20608810%20609200%20609452%20609524%20611332&highlight=102565%2C123590%2C125660%2C601419%2C605906%2C608810%2C609200%2C609452%2C609524%2C611332">
<span class="mim-tip-hint" title="Gene description">
<span class="text-danger"><strong>*</strong></span>
102565.
</span>
FILAMIN C; FLNC
</a>
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">
<a href="/geneMap/7/659?start=-3&limit=10&highlight=659">
7q32.1</a></span>,
Genomic coordinates <span class="small">(GRCh38)</span>: <span class="mim-font"><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr7:128830406-128859272&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">7:128,830,406-128,859,272</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">102565</span></span>
<br />
<a href="#mimGeneMapFold_1" id="mimGeneMapToggle_1" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimGeneMapToggleTriangle_1" class="mimSingletonToggleTriangle" style="color: DarkOrchid">►</span> Gene-Phenotype Relationships</span></a>
<a href="#mimLinksFold_1" id="mimLinksToggle_1" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'Links'})"><span class="small"><span id="mimLinksToggleTriangle_1" class="mimSingletonToggleTriangle" style="color: #337CB5">►</span> Links</span></a>
<div id="mimGeneMapFold_1" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-bordered table-condensed small mim-table-padding">
<caption>
Gene-Phenotype Relationships
</caption>
<thead>
<tr>
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
</tr>
</thead>
<tbody>
<tr>
<td rowspan="5">
<span class="mim-font">
<a href="/geneMap/7/659?start=-3&limit=10&highlight=659">
7q32.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Arrhythmogenic right ventricular dysplasia, familial
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617047"> 617047 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
Cardiomyopathy, familial hypertrophic, 26
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617047"> 617047 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
Cardiomyopathy, familial restrictive 5
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617047"> 617047 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
Myopathy, distal, 4
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614065"> 614065 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
Myopathy, myofibrillar, 5
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609524"> 609524 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimGeneMapFold_1" data-toggle="collapse">▲ Close</a>
</div>
</div>
<div id="mimLinksFold_1" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding ">
<caption>
Links
</caption>
<tbody>
<tr>
<td>
<dl>
<dt>Testing</dt>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=102565[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Genome</dt>
<dd><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000128591;t=ENST00000325888" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=2318" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></dd>
<dd><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=102565" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></dd>
</dl>
</td>
<td>
<dl>
<dt>DNA</dt>
<dd><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000128591;t=ENST00000325888" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001127487,NM_001458" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001458" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></dd>
<dd><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=102565" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Protein</dt>
<dd><a href="https://hprd.org/summary?hprd_id=00018&isoform_id=00018_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></dd>
<dd><a href="https://www.proteinatlas.org/search/FLNC" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/protein/938227,1657315,4218955,5419655,5629917,7677526,7715914,8885790,62087310,116805322,119604095,119604096,119604097,188595687,190192200,193785487,194338409,254763419" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></dd>
<dd><a href="https://www.uniprot.org/uniprotkb/Q14315" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Gene Info</dt>
<dd><a href="http://biogps.org/#goto=genereport&id=2318" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></dd>
<dd><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000128591;t=ENST00000325888" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></dd>
<dd><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=FLNC" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></dd>
<dd><a href="http://amigo.geneontology.org/amigo/search/annotation?q=FLNC" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></dd>
<dd><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+2318" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></dd>
<dd><a href="http://v1.marrvel.org/search/gene/FLNC" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
<dd><a href="https://monarchinitiative.org/NCBIGene:2318" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gene/2318" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></dd>
<dd><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr7&hgg_gene=ENST00000325888.13&hgg_start=128830406&hgg_end=128859272&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Clinical Resources</dt>
<dd><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3756" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></dd>
<dd><a href="https://search.clinicalgenome.org/kb/genes/HGNC:3756" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=102565[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Variation</dt>
<dd><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=102565[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></dd>
<dd><a href="https://www.deciphergenomics.org/gene/FLNC/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></dd>
<dd><a href="https://gnomad.broadinstitute.org/gene/ENSG00000128591" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></dd>
<dd><a href="https://www.ebi.ac.uk/gwas/search?query=FLNC" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></dd>
<dd><a href="https://www.gwascentral.org/search?q=FLNC" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></dd>
<dd><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=FLNC" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></dd>
<dd><a href="http://www.LOVD.nl/FLNC" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></dd>
<dd><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=FLNC&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></dd>
<dd><a href="https://www.pharmgkb.org/gene/PA28174" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Animal Models</dt>
<dd><a href="https://www.alliancegenome.org/gene/HGNC:3756" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></dd>
<dd><a href="https://flybase.org/reports/FBgn0014141.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></dd>
<dd><a href="https://www.mousephenotype.org/data/genes/MGI:95557" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></dd>
<dd><a href="http://v1.marrvel.org/search/gene/FLNC#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
<dd><a href="http://www.informatics.jax.org/marker/MGI:95557" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></dd>
<dd><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=MGI:95557" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gene/2318/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></dd>
<dd><a href="https://www.orthodb.org/?ncbi=2318" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></dd>
<dd><a href="https://wormbase.org/db/gene/gene?name=WBGene00022048;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></dd> Wormbase Gene
<dd><a href="https://zfin.org/ZDB-GENE-041008-175" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Cellular Pathways</dt>
<dd><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2318" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></dd>
<dd><a href="https://reactome.org/content/query?q=FLNC&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></dd>
</dl>
</td>
</tr>
</tbody>
</table>
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<a href="#mimLinksFold_1" data-toggle="collapse">▲ Close</a>
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<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
2:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<a href="/entry/608810?search=102565%20123590%20125660%20300163%20601419%20603883%20604103%20605906%20608810%20609200%20609452%20609524%20611332&highlight=102565%2C123590%2C125660%2C601419%2C605906%2C608810%2C609200%2C609452%2C609524%2C611332">
<span class="mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
608810.
</span>
MYOPATHY, MYOFIBRILLAR, 2; MFM2
</a>
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">
<a href="/geneMap/11/925?start=-3&limit=10&highlight=925">
11q23.1</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">608810</span></span>
<br />
<a href="#mimPhenotypeMapFold_2" id="mimPhenotypeMapToggle_2" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimPhenotypeMapToggleTriangle_2" class="mimPingletonToggleTriangle" style="color: DarkOrchid">►</span> Phenotype-Gene Relationships</span></a>
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<table class="table table-bordered table-condensed small mim-table-padding">
<caption>
Phenotype-Gene Relationships
</caption>
<thead>
<tr>
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/925?start=-3&limit=10&highlight=925">
11q23.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Myopathy, myofibrillar, 2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608810"> 608810 </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">
CRYAB
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123590"> 123590 </a>
</span>
</td>
</tr>
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Myopathy, myofibrillar
- <a href="/phenotypicSeries/PS601419">PS601419</a>
- 14 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/823?start=-3&limit=10&highlight=823"> 2q31.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603689"> Myopathy, myofibrillar, 9, with early respiratory failure </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/603689"> 603689 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/188840"> TTN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/188840"> 188840 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/1040?start=-3&limit=10&highlight=1040"> 2q35 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601419"> Myopathy, myofibrillar, 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601419"> 601419 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/125660"> DES </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/125660"> 125660 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/702?start=-3&limit=10&highlight=702"> 3q22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617114"> Myopathy, myofibrillar, 7 </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/617114"> 617114 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605739"> KY </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605739"> 605739 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/497?start=-3&limit=10&highlight=497"> 5q31.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609200"> Myopathy, myofibrillar, 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609200"> 609200 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604103"> MYOT </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604103"> 604103 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/659?start=-3&limit=10&highlight=659"> 7q32.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609524"> Myopathy, myofibrillar, 5 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609524"> 609524 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102565"> FLNC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102565"> 102565 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/129?start=-3&limit=10&highlight=129"> 10p11.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619040"> Myofibrillar myopathy 10 </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/619040"> 619040 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604126"> SVIL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604126"> 604126 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/355?start=-3&limit=10&highlight=355"> 10q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609452"> Myopathy, myofibrillar, 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/609452"> 609452 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605906"> LDB3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605906"> 605906 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/613?start=-3&limit=10&highlight=613"> 10q26.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612954"> Myopathy, myofibrillar, 6 </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/612954"> 612954 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603883"> BAG3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603883"> 603883 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/925?start=-3&limit=10&highlight=925"> 11q23.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608810"> Myopathy, myofibrillar, 2 </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/608810"> 608810 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123590"> CRYAB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123590"> 123590 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/925?start=-3&limit=10&highlight=925"> 11q23.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613869"> Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related </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/613869"> 613869 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123590"> CRYAB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123590"> 123590 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/223?start=-3&limit=10&highlight=223"> 12p12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617258"> Myopathy, myofibrillar, 8 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617258"> 617258 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617220"> PYROXD1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617220"> 617220 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/809?start=-3&limit=10&highlight=809"> 12q24.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619424"> Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy </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/619424"> 619424 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160781"> MYL2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160781"> 160781 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/858?start=-3&limit=10&highlight=858"> 12q24.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/621078"> Myopathy, myofibrillar, 13, with rimmed vacuoles </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/621078"> 621078 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608014"> HSPB8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608014"> 608014 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/417?start=-3&limit=10&highlight=417"> 17q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619178"> Myofibrillar myopathy 11 </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/619178"> 619178 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611220"> UNC45B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611220"> 611220 </a>
</span>
</td>
</tr>
</tbody>
</table>
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<a href="#mimPhenotypicSeriesFold_2" data-toggle="collapse">▲ Close</a>
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<div id="mimLinksFold_2" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding ">
<caption>
Links
</caption>
<tbody>
<tr>
<td>
<dl>
<dt>Testing</dt>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=608810[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=22745&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Clinical Resources</dt>
<dd><a href="https://clinicaltrials.gov/search?cond=(MYOPATHY, MYOFIBRILLAR) OR (CRYAB)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=22745&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></dd>
<dd><a href="https://www.diseaseinfosearch.org/x/7669" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=608810[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=399058" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Animal Models</dt>
<dd><a href="https://www.alliancegenome.org/disease/DOID:0080093" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></dd>
<dd><a href="http://www.informatics.jax.org/disease/608810" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></dd>
<dd><a href="https://omia.org/OMIA002330/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></dd>
<dd><a href="https://wormbase.org/resources/disease/DOID:0080093" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></dd>
</dl>
</td>
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<div id="mimDisorderCodesFold_2" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding">
<caption>
ICD+
</caption>
<tbody>
<tr>
<td>
<dl>
<dd>ORPHA: 399058</dd>
<dd>DO: 0080093</dd>
</dl>
</td>
</tr>
</tbody>
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<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
3:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<a href="/entry/609200?search=102565%20123590%20125660%20300163%20601419%20603883%20604103%20605906%20608810%20609200%20609452%20609524%20611332&highlight=102565%2C123590%2C125660%2C601419%2C605906%2C608810%2C609200%2C609452%2C609524%2C611332">
<span class="mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
609200.
</span>
MYOPATHY, MYOFIBRILLAR, 3; MFM3
</a>
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">
<a href="/geneMap/5/497?start=-3&limit=10&highlight=497">
5q31.2</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">609200</span></span>
<br />
<a href="#mimPhenotypeMapFold_3" id="mimPhenotypeMapToggle_3" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimPhenotypeMapToggleTriangle_3" class="mimPingletonToggleTriangle" style="color: DarkOrchid">►</span> Phenotype-Gene Relationships</span></a>
<a href="#mimPhenotypicSeriesFold_3" id="mimPhenotypicSeriesToggle_3" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'PhenotypicSeries'})"><span class="small"><span id="mimPhenotypicSeriesToggleTriangle_3" class="mimSingletonToggleTriangle" style="color: #47B7D9">►</span> Phenotypic Series</span></a>
<a href="#mimDisorderCodesFold_3" id="mimDisorderCodesToggle_3" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'ICD+'})"><span class="small"><span id="mimDisorderCodesToggleTriangle_3" class="mimSingletonToggleTriangle" style="color: DarkRed">►</span> ICD+</span></a>
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<table class="table table-bordered table-condensed small mim-table-padding">
<caption>
Phenotype-Gene Relationships
</caption>
<thead>
<tr>
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/497?start=-3&limit=10&highlight=497">
5q31.2
</a>
</span>
</td>
<td>
<span class="mim-font">
Myopathy, myofibrillar, 3
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609200"> 609200 </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">
MYOT
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604103"> 604103 </a>
</span>
</td>
</tr>
</tbody>
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Myopathy, myofibrillar
- <a href="/phenotypicSeries/PS601419">PS601419</a>
- 14 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/823?start=-3&limit=10&highlight=823"> 2q31.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603689"> Myopathy, myofibrillar, 9, with early respiratory failure </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/603689"> 603689 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/188840"> TTN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/188840"> 188840 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/1040?start=-3&limit=10&highlight=1040"> 2q35 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601419"> Myopathy, myofibrillar, 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601419"> 601419 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/125660"> DES </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/125660"> 125660 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/702?start=-3&limit=10&highlight=702"> 3q22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617114"> Myopathy, myofibrillar, 7 </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/617114"> 617114 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605739"> KY </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605739"> 605739 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/497?start=-3&limit=10&highlight=497"> 5q31.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609200"> Myopathy, myofibrillar, 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609200"> 609200 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604103"> MYOT </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604103"> 604103 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/659?start=-3&limit=10&highlight=659"> 7q32.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609524"> Myopathy, myofibrillar, 5 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609524"> 609524 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102565"> FLNC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102565"> 102565 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/129?start=-3&limit=10&highlight=129"> 10p11.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619040"> Myofibrillar myopathy 10 </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/619040"> 619040 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604126"> SVIL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604126"> 604126 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/355?start=-3&limit=10&highlight=355"> 10q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609452"> Myopathy, myofibrillar, 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/609452"> 609452 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605906"> LDB3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605906"> 605906 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/613?start=-3&limit=10&highlight=613"> 10q26.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612954"> Myopathy, myofibrillar, 6 </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/612954"> 612954 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603883"> BAG3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603883"> 603883 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/925?start=-3&limit=10&highlight=925"> 11q23.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608810"> Myopathy, myofibrillar, 2 </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/608810"> 608810 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123590"> CRYAB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123590"> 123590 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/925?start=-3&limit=10&highlight=925"> 11q23.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613869"> Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related </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/613869"> 613869 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123590"> CRYAB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123590"> 123590 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/223?start=-3&limit=10&highlight=223"> 12p12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617258"> Myopathy, myofibrillar, 8 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617258"> 617258 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617220"> PYROXD1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617220"> 617220 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/809?start=-3&limit=10&highlight=809"> 12q24.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619424"> Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy </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/619424"> 619424 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160781"> MYL2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160781"> 160781 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/858?start=-3&limit=10&highlight=858"> 12q24.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/621078"> Myopathy, myofibrillar, 13, with rimmed vacuoles </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/621078"> 621078 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608014"> HSPB8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608014"> 608014 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/417?start=-3&limit=10&highlight=417"> 17q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619178"> Myofibrillar myopathy 11 </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/619178"> 619178 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611220"> UNC45B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611220"> 611220 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
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<a href="#mimPhenotypicSeriesFold_3" data-toggle="collapse">▲ Close</a>
</div>
</div>
</div>
<div id="mimLinksFold_3" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding ">
<caption>
Links
</caption>
<tbody>
<tr>
<td>
<dl>
<dt>Testing</dt>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=609200[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
<dd>EuroGentest</dd>
<dd style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=8718&Typ=Pat" title="Autosomal dominant limb-girdle muscular dystrophy type 1A" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Autosomal dominant limb-gi… </a></dd><dd style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=13928&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Distal myotilinopathy </a></dd>
</dl>
</td>
<td>
<dl>
<dt>Clinical Resources</dt>
<dd><a href="https://clinicaltrials.gov/search?cond=(MYOPATHY, MYOFIBRILLAR) OR (MYOT)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></dd>
<dd>EuroGentest</dd>
<dd style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=8718&Typ=Pat" title="Autosomal dominant limb-girdle muscular dystrophy type 1A" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Autosomal dominant limb-gi… </a></dd><dd style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=13928&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Distal myotilinopathy </a></dd>
<dd><a href="https://www.diseaseinfosearch.org/x/8965" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=609200[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
<dd>OrphaNet</dd>
<dd style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=266" title="Autosomal dominant limb-girdle muscular dystrophy type 1A" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Autosomal dominant limb-gi…</a></dd><dd style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98911" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Distal myotilinopathy</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Animal Models</dt>
<dd><a href="https://www.alliancegenome.org/disease/DOID:0080094" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></dd>
<dd><a href="http://www.informatics.jax.org/disease/609200" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></dd>
<dd><a href="https://omia.org/OMIA002330/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></dd>
</dl>
</td>
</tr>
</tbody>
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<div id="mimDisorderCodesFold_3" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding">
<caption>
ICD+
</caption>
<tbody>
<tr>
<td>
<dl>
<dd>ORPHA: 266, 98911</dd>
<dd>DO: 0080094</dd>
</dl>
</td>
</tr>
</tbody>
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<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
4:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<a href="/entry/609452?search=102565%20123590%20125660%20300163%20601419%20603883%20604103%20605906%20608810%20609200%20609452%20609524%20611332&highlight=102565%2C123590%2C125660%2C601419%2C605906%2C608810%2C609200%2C609452%2C609524%2C611332">
<span class="mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
609452.
</span>
MYOPATHY, MYOFIBRILLAR, 4; MFM4
</a>
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">
<a href="/geneMap/10/355?start=-3&limit=10&highlight=355">
10q23.2</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">609452</span></span>
<br />
<a href="#mimPhenotypeMapFold_4" id="mimPhenotypeMapToggle_4" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimPhenotypeMapToggleTriangle_4" class="mimPingletonToggleTriangle" style="color: DarkOrchid">►</span> Phenotype-Gene Relationships</span></a>
<a href="#mimPhenotypicSeriesFold_4" id="mimPhenotypicSeriesToggle_4" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'PhenotypicSeries'})"><span class="small"><span id="mimPhenotypicSeriesToggleTriangle_4" class="mimSingletonToggleTriangle" style="color: #47B7D9">►</span> Phenotypic Series</span></a>
<a href="#mimDisorderCodesFold_4" id="mimDisorderCodesToggle_4" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'ICD+'})"><span class="small"><span id="mimDisorderCodesToggleTriangle_4" class="mimSingletonToggleTriangle" style="color: DarkRed">►</span> ICD+</span></a>
<a href="#mimLinksFold_4" id="mimLinksToggle_4" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'Links'})"><span class="small"><span id="mimLinksToggleTriangle_4" class="mimSingletonToggleTriangle" style="color: #337CB5">►</span> Links</span></a>
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<table class="table table-bordered table-condensed small mim-table-padding">
<caption>
Phenotype-Gene Relationships
</caption>
<thead>
<tr>
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/355?start=-3&limit=10&highlight=355">
10q23.2
</a>
</span>
</td>
<td>
<span class="mim-font">
Myopathy, myofibrillar, 4
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609452"> 609452 </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">
LDB3
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605906"> 605906 </a>
</span>
</td>
</tr>
</tbody>
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<a href="#mimPhenotypeMapFold_4" data-toggle="collapse">▲ Close</a>
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<div class="small">
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Myopathy, myofibrillar
- <a href="/phenotypicSeries/PS601419">PS601419</a>
- 14 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/823?start=-3&limit=10&highlight=823"> 2q31.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603689"> Myopathy, myofibrillar, 9, with early respiratory failure </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/603689"> 603689 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/188840"> TTN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/188840"> 188840 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/1040?start=-3&limit=10&highlight=1040"> 2q35 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601419"> Myopathy, myofibrillar, 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601419"> 601419 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/125660"> DES </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/125660"> 125660 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/702?start=-3&limit=10&highlight=702"> 3q22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617114"> Myopathy, myofibrillar, 7 </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/617114"> 617114 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605739"> KY </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605739"> 605739 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/497?start=-3&limit=10&highlight=497"> 5q31.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609200"> Myopathy, myofibrillar, 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609200"> 609200 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604103"> MYOT </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604103"> 604103 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/659?start=-3&limit=10&highlight=659"> 7q32.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609524"> Myopathy, myofibrillar, 5 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609524"> 609524 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102565"> FLNC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102565"> 102565 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/129?start=-3&limit=10&highlight=129"> 10p11.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619040"> Myofibrillar myopathy 10 </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/619040"> 619040 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604126"> SVIL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604126"> 604126 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/355?start=-3&limit=10&highlight=355"> 10q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609452"> Myopathy, myofibrillar, 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/609452"> 609452 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605906"> LDB3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605906"> 605906 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/613?start=-3&limit=10&highlight=613"> 10q26.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612954"> Myopathy, myofibrillar, 6 </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/612954"> 612954 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603883"> BAG3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603883"> 603883 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/925?start=-3&limit=10&highlight=925"> 11q23.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608810"> Myopathy, myofibrillar, 2 </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/608810"> 608810 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123590"> CRYAB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123590"> 123590 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/925?start=-3&limit=10&highlight=925"> 11q23.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613869"> Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related </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/613869"> 613869 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123590"> CRYAB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123590"> 123590 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/223?start=-3&limit=10&highlight=223"> 12p12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617258"> Myopathy, myofibrillar, 8 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617258"> 617258 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617220"> PYROXD1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617220"> 617220 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/809?start=-3&limit=10&highlight=809"> 12q24.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619424"> Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy </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/619424"> 619424 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160781"> MYL2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160781"> 160781 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/858?start=-3&limit=10&highlight=858"> 12q24.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/621078"> Myopathy, myofibrillar, 13, with rimmed vacuoles </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/621078"> 621078 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608014"> HSPB8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608014"> 608014 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/417?start=-3&limit=10&highlight=417"> 17q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619178"> Myofibrillar myopathy 11 </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/619178"> 619178 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611220"> UNC45B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611220"> 611220 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="text-right small">
<a href="#mimPhenotypicSeriesFold_4" data-toggle="collapse">▲ Close</a>
</div>
</div>
</div>
<div id="mimLinksFold_4" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding ">
<caption>
Links
</caption>
<tbody>
<tr>
<td>
<dl>
<dt>Testing</dt>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=609452[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=13929&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Clinical Resources</dt>
<dd><a href="https://clinicaltrials.gov/search?cond=(MYOPATHY, MYOFIBRILLAR) OR (LDB3)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=13929&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></dd>
<dd><a href="https://www.diseaseinfosearch.org/x/8943" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=609452[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98912" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Animal Models</dt>
<dd><a href="https://www.alliancegenome.org/disease/DOID:0080095" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></dd>
<dd><a href="http://www.informatics.jax.org/disease/609452" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></dd>
<dd><a href="https://omia.org/OMIA002330/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></dd>
<dd><a href="https://wormbase.org/resources/disease/DOID:0080095" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></dd>
</dl>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimLinksFold_4" data-toggle="collapse">▲ Close</a>
</div>
</div>
<div id="mimDisorderCodesFold_4" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding">
<caption>
ICD+
</caption>
<tbody>
<tr>
<td>
<dl>
<dd>ORPHA: 98912</dd>
<dd>DO: 0080095</dd>
</dl>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimDisorderCodesFold_4" data-toggle="collapse">▲ Close</a>
</div>
</div>
</div>
</div>
<div class="row">
<p />
</div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
5:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<a href="/entry/609524?search=102565%20123590%20125660%20300163%20601419%20603883%20604103%20605906%20608810%20609200%20609452%20609524%20611332&highlight=102565%2C123590%2C125660%2C601419%2C605906%2C608810%2C609200%2C609452%2C609524%2C611332">
<span class="mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
609524.
</span>
MYOPATHY, MYOFIBRILLAR, 5; MFM5
</a>
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">
<a href="/geneMap/7/659?start=-3&limit=10&highlight=659">
7q32.1</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">609524</span></span>
<br />
<a href="#mimPhenotypeMapFold_5" id="mimPhenotypeMapToggle_5" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimPhenotypeMapToggleTriangle_5" class="mimPingletonToggleTriangle" style="color: DarkOrchid">►</span> Phenotype-Gene Relationships</span></a>
<a href="#mimPhenotypicSeriesFold_5" id="mimPhenotypicSeriesToggle_5" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'PhenotypicSeries'})"><span class="small"><span id="mimPhenotypicSeriesToggleTriangle_5" class="mimSingletonToggleTriangle" style="color: #47B7D9">►</span> Phenotypic Series</span></a>
<a href="#mimDisorderCodesFold_5" id="mimDisorderCodesToggle_5" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'ICD+'})"><span class="small"><span id="mimDisorderCodesToggleTriangle_5" class="mimSingletonToggleTriangle" style="color: DarkRed">►</span> ICD+</span></a>
<a href="#mimLinksFold_5" id="mimLinksToggle_5" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'Links'})"><span class="small"><span id="mimLinksToggleTriangle_5" class="mimSingletonToggleTriangle" style="color: #337CB5">►</span> Links</span></a>
<div id="mimPhenotypeMapFold_5" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-bordered table-condensed small mim-table-padding">
<caption>
Phenotype-Gene Relationships
</caption>
<thead>
<tr>
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/659?start=-3&limit=10&highlight=659">
7q32.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Myopathy, myofibrillar, 5
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609524"> 609524 </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">
FLNC
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102565"> 102565 </a>
</span>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimPhenotypeMapFold_5" data-toggle="collapse">▲ Close</a>
</div>
</div>
<div id="mimPhenotypicSeriesFold_5" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Myopathy, myofibrillar
- <a href="/phenotypicSeries/PS601419">PS601419</a>
- 14 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/823?start=-3&limit=10&highlight=823"> 2q31.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603689"> Myopathy, myofibrillar, 9, with early respiratory failure </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/603689"> 603689 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/188840"> TTN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/188840"> 188840 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/1040?start=-3&limit=10&highlight=1040"> 2q35 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601419"> Myopathy, myofibrillar, 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601419"> 601419 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/125660"> DES </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/125660"> 125660 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/702?start=-3&limit=10&highlight=702"> 3q22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617114"> Myopathy, myofibrillar, 7 </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/617114"> 617114 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605739"> KY </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605739"> 605739 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/497?start=-3&limit=10&highlight=497"> 5q31.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609200"> Myopathy, myofibrillar, 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609200"> 609200 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604103"> MYOT </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604103"> 604103 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/659?start=-3&limit=10&highlight=659"> 7q32.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609524"> Myopathy, myofibrillar, 5 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609524"> 609524 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102565"> FLNC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102565"> 102565 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/129?start=-3&limit=10&highlight=129"> 10p11.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619040"> Myofibrillar myopathy 10 </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/619040"> 619040 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604126"> SVIL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604126"> 604126 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/355?start=-3&limit=10&highlight=355"> 10q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609452"> Myopathy, myofibrillar, 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/609452"> 609452 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605906"> LDB3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605906"> 605906 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/613?start=-3&limit=10&highlight=613"> 10q26.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612954"> Myopathy, myofibrillar, 6 </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/612954"> 612954 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603883"> BAG3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603883"> 603883 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/925?start=-3&limit=10&highlight=925"> 11q23.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608810"> Myopathy, myofibrillar, 2 </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/608810"> 608810 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123590"> CRYAB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123590"> 123590 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/925?start=-3&limit=10&highlight=925"> 11q23.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613869"> Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related </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/613869"> 613869 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123590"> CRYAB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123590"> 123590 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/223?start=-3&limit=10&highlight=223"> 12p12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617258"> Myopathy, myofibrillar, 8 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617258"> 617258 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617220"> PYROXD1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617220"> 617220 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/809?start=-3&limit=10&highlight=809"> 12q24.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619424"> Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy </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/619424"> 619424 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160781"> MYL2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160781"> 160781 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/858?start=-3&limit=10&highlight=858"> 12q24.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/621078"> Myopathy, myofibrillar, 13, with rimmed vacuoles </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/621078"> 621078 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608014"> HSPB8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608014"> 608014 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/417?start=-3&limit=10&highlight=417"> 17q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619178"> Myofibrillar myopathy 11 </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/619178"> 619178 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611220"> UNC45B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611220"> 611220 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="text-right small">
<a href="#mimPhenotypicSeriesFold_5" data-toggle="collapse">▲ Close</a>
</div>
</div>
</div>
<div id="mimLinksFold_5" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding ">
<caption>
Links
</caption>
<tbody>
<tr>
<td>
<dl>
<dt>Testing</dt>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=609524[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=17911&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Clinical Resources</dt>
<dd><a href="https://clinicaltrials.gov/search?cond=(MYOPATHY, MYOFIBRILLAR) OR (FLNC)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=17911&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></dd>
<dd><a href="https://www.diseaseinfosearch.org/x/8942" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=609524[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=171445" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Animal Models</dt>
<dd><a href="https://www.alliancegenome.org/disease/DOID:0080096" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></dd>
<dd><a href="http://www.informatics.jax.org/disease/609524" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></dd>
<dd><a href="https://omia.org/OMIA002330/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></dd>
<dd><a href="https://wormbase.org/resources/disease/DOID:0080096" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></dd>
</dl>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimLinksFold_5" data-toggle="collapse">▲ Close</a>
</div>
</div>
<div id="mimDisorderCodesFold_5" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding">
<caption>
ICD+
</caption>
<tbody>
<tr>
<td>
<dl>
<dd>ORPHA: 171445</dd>
<dd>DO: 0080096</dd>
</dl>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimDisorderCodesFold_5" data-toggle="collapse">▲ Close</a>
</div>
</div>
</div>
</div>
<div class="row">
<p />
</div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
6:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<a href="/entry/611332?search=102565%20123590%20125660%20300163%20601419%20603883%20604103%20605906%20608810%20609200%20609452%20609524%20611332&highlight=102565%2C123590%2C125660%2C601419%2C605906%2C608810%2C609200%2C609452%2C609524%2C611332">
<span class="mim-tip-hint" title="Gene description">
<span class="text-danger"><strong>*</strong></span>
611332.
</span>
DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 6; DNAJB6
</a>
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">
<a href="/geneMap/7/862?start=-3&limit=10&highlight=862">
7q36.3</a></span>,
Genomic coordinates <span class="small">(GRCh38)</span>: <span class="mim-font"><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr7:157337004-157417439&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">7:157,337,004-157,417,439</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">611332</span></span>
<br />
<a href="#mimGeneMapFold_6" id="mimGeneMapToggle_6" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimGeneMapToggleTriangle_6" class="mimSingletonToggleTriangle" style="color: DarkOrchid">►</span> Gene-Phenotype Relationships</span></a>
<a href="#mimDisorderCodesFold_6" id="mimDisorderCodesToggle_6" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'ICD+'})"><span class="small"><span id="mimDisorderCodesToggleTriangle_6" class="mimSingletonToggleTriangle" style="color: DarkRed">►</span> ICD+</span></a>
<a href="#mimLinksFold_6" id="mimLinksToggle_6" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'Links'})"><span class="small"><span id="mimLinksToggleTriangle_6" class="mimSingletonToggleTriangle" style="color: #337CB5">►</span> Links</span></a>
<div id="mimGeneMapFold_6" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-bordered table-condensed small mim-table-padding">
<caption>
Gene-Phenotype Relationships
</caption>
<thead>
<tr>
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
</tr>
</thead>
<tbody>
<tr>
<td rowspan="1">
<span class="mim-font">
<a href="/geneMap/7/862?start=-3&limit=10&highlight=862">
7q36.3
</a>
</span>
</td>
<td>
<span class="mim-font">
Muscular dystrophy, limb-girdle, autosomal dominant 1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603511"> 603511 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimGeneMapFold_6" data-toggle="collapse">▲ Close</a>
</div>
</div>
<div id="mimLinksFold_6" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding ">
<caption>
Links
</caption>
<tbody>
<tr>
<td>
<dl>
<dt>Testing</dt>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=611332[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Genome</dt>
<dd><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000105993;t=ENST00000262177" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=10049" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></dd>
<dd><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=611332" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></dd>
</dl>
</td>
<td>
<dl>
<dt>DNA</dt>
<dd><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000105993;t=ENST00000262177" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001363676,NM_005494,NM_058246,XM_005249515,XM_005249516,XM_006715823,XM_011515704,XM_047419695,XM_047419696,XM_047419697,XM_047419698" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_058246" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></dd>
<dd><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=611332" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Protein</dt>
<dd><a href="https://hprd.org/summary?hprd_id=07107&isoform_id=07107_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></dd>
<dd><a href="https://www.proteinatlas.org/search/DNAJB6" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/protein/3402485,4885495,5441950,6648623,6681592,6681594,12052934,12652849,12803263,17388799,19855067,41471289,41471290,41473761,49065422,51094673,51094674,62089304,62898934,71297298,119624975,119624976,156181166,158257338,158259511,194375261,194387090,194387542,194388658,530387208,530387210,578813845,767946620,1393169778,2217365115,2217365117,2217365119,2217365121,2462611775,2462611777,2462611779,2462611781,2462611783,2462611785,2462611787" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></dd>
<dd><a href="https://www.uniprot.org/uniprotkb/O75190" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Gene Info</dt>
<dd><a href="http://biogps.org/#goto=genereport&id=10049" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></dd>
<dd><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105993;t=ENST00000262177" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></dd>
<dd><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJB6" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></dd>
<dd><a href="http://amigo.geneontology.org/amigo/search/annotation?q=DNAJB6" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></dd>
<dd><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+10049" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></dd>
<dd><a href="http://v1.marrvel.org/search/gene/DNAJB6" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
<dd><a href="https://monarchinitiative.org/NCBIGene:10049" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gene/10049" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></dd>
<dd><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr7&hgg_gene=ENST00000262177.9&hgg_start=157337004&hgg_end=157417439&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Clinical Resources</dt>
<dd><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14888" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></dd>
<dd><a href="https://search.clinicalgenome.org/kb/genes/HGNC:14888" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=611332[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Variation</dt>
<dd><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=611332[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></dd>
<dd><a href="https://gnomad.broadinstitute.org/gene/ENSG00000105993" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></dd>
<dd><a href="https://www.ebi.ac.uk/gwas/search?query=DNAJB6" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></dd>
<dd><a href="https://www.gwascentral.org/search?q=DNAJB6" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></dd>
<dd><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=DNAJB6" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></dd>
<dd><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=DNAJB6&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></dd>
<dd><a href="https://www.pharmgkb.org/gene/PA27418" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Animal Models</dt>
<dd><a href="https://www.alliancegenome.org/gene/HGNC:14888" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></dd>
<dd><a href="https://flybase.org/reports/FBgn0034091.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></dd>
<dd><a href="https://www.mousephenotype.org/data/genes/MGI:1344381" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></dd>
<dd><a href="http://v1.marrvel.org/search/gene/DNAJB6#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
<dd><a href="http://www.informatics.jax.org/marker/MGI:1344381" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></dd>
<dd><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=MGI:1344381" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gene/10049/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></dd>
<dd><a href="https://www.orthodb.org/?ncbi=10049" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></dd>
<dd><a href="https://wormbase.org/db/gene/gene?name=WBGene00001042;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></dd> Wormbase Gene
<dd><a href="https://zfin.org/ZDB-GENE-040426-1122" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Cellular Pathways</dt>
<dd><a href="https://reactome.org/content/query?q=DNAJB6&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></dd>
</dl>
</td>
</tr>
</tbody>
</table>
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<div id="mimDisorderCodesFold_6" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding">
<caption>
ICD+
</caption>
<tbody>
<tr>
<td>
<dl>
<dd>ICD10CM: G71.031</dd>
</dl>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimDisorderCodesFold_6" data-toggle="collapse">▲ Close</a>
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<div class="row">
<p />
</div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
7:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<a href="/entry/123590?search=102565%20123590%20125660%20300163%20601419%20603883%20604103%20605906%20608810%20609200%20609452%20609524%20611332&highlight=102565%2C123590%2C125660%2C601419%2C605906%2C608810%2C609200%2C609452%2C609524%2C611332">
<span class="mim-tip-hint" title="Gene description">
<span class="text-danger"><strong>*</strong></span>
123590.
</span>
CRYSTALLIN, ALPHA-B; CRYAB
</a>
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">
<a href="/geneMap/11/925?start=-3&limit=10&highlight=925">
11q23.1</a></span>,
Genomic coordinates <span class="small">(GRCh38)</span>: <span class="mim-font"><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:111908564-111923740&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">11:111,908,564-111,923,740</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">123590</span></span>
<br />
<a href="#mimGeneMapFold_7" id="mimGeneMapToggle_7" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimGeneMapToggleTriangle_7" class="mimSingletonToggleTriangle" style="color: DarkOrchid">►</span> Gene-Phenotype Relationships</span></a>
<a href="#mimDisorderCodesFold_7" id="mimDisorderCodesToggle_7" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'ICD+'})"><span class="small"><span id="mimDisorderCodesToggleTriangle_7" class="mimSingletonToggleTriangle" style="color: DarkRed">►</span> ICD+</span></a>
<a href="#mimLinksFold_7" id="mimLinksToggle_7" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'Links'})"><span class="small"><span id="mimLinksToggleTriangle_7" class="mimSingletonToggleTriangle" style="color: #337CB5">►</span> Links</span></a>
<div id="mimGeneMapFold_7" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-bordered table-condensed small mim-table-padding">
<caption>
Gene-Phenotype Relationships
</caption>
<thead>
<tr>
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
</tr>
</thead>
<tbody>
<tr>
<td rowspan="4">
<span class="mim-font">
<a href="/geneMap/11/925?start=-3&limit=10&highlight=925">
11q23.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Cardiomyopathy, dilated, 1II
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615184"> 615184 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
Cataract 16, multiple types
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613763"> 613763 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
Myopathy, myofibrillar, 2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608810"> 608810 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613869"> 613869 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
</tr>
</tbody>
</table>
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<a href="#mimGeneMapFold_7" data-toggle="collapse">▲ Close</a>
</div>
</div>
<div id="mimLinksFold_7" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding ">
<caption>
Links
</caption>
<tbody>
<tr>
<td>
<dl>
<dt>Testing</dt>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=123590[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Genome</dt>
<dd><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000109846;t=ENST00000650687" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=1410" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></dd>
<dd><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=123590" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></dd>
</dl>
</td>
<td>
<dl>
<dt>DNA</dt>
<dd><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000109846;t=ENST00000650687" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001289807,NM_001289808,NM_001330379,NM_001368245,NM_001368246,NM_001885" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001289808" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></dd>
<dd><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=123590" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Protein</dt>
<dd><a href="https://hprd.org/summary?hprd_id=00428&isoform_id=00428_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></dd>
<dd><a href="https://www.proteinatlas.org/search/CRYAB" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/protein/117385,181076,256399,537532,2852648,4503057,13937813,30582379,40046778,40046782,119587566,119587567,119587568,119587569,119587570,119587571,167887506,189054219,194380530,209402766,227018373,577019571,577019573,1002005034,1002005036,1002005038,1002005040,1002005042,1060099179,1564385576,1564386053,2462522985" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></dd>
<dd><a href="https://www.uniprot.org/uniprotkb/P02511" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Gene Info</dt>
<dd><a href="http://biogps.org/#goto=genereport&id=1410" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></dd>
<dd><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000109846;t=ENST00000650687" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></dd>
<dd><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=CRYAB" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></dd>
<dd><a href="http://amigo.geneontology.org/amigo/search/annotation?q=CRYAB" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></dd>
<dd><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+1410" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></dd>
<dd><a href="http://v1.marrvel.org/search/gene/CRYAB" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
<dd><a href="https://monarchinitiative.org/NCBIGene:1410" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gene/1410" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></dd>
<dd><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr11&hgg_gene=ENST00000650687.2&hgg_start=111908564&hgg_end=111923740&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Clinical Resources</dt>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=123590[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Variation</dt>
<dd><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=123590[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></dd>
<dd><a href="https://gnomad.broadinstitute.org/gene/ENSG00000109846" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></dd>
<dd><a href="https://www.ebi.ac.uk/gwas/search?query=CRYAB" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></dd>
<dd><a href="https://www.gwascentral.org/search?q=CRYAB" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></dd>
<dd><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=CRYAB" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></dd>
<dd><a href="http://www.LOVD.nl/CRYAB" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></dd>
<dd><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=CRYAB&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></dd>
<dd><a href="https://www.pharmgkb.org/gene/PA26907" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Animal Models</dt>
<dd><a href="https://www.alliancegenome.org/gene/HGNC:2389" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></dd>
<dd><a href="https://flybase.org/reports/FBgn0011296.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></dd>
<dd><a href="https://www.mousephenotype.org/data/genes/MGI:88516" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></dd>
<dd><a href="http://v1.marrvel.org/search/gene/CRYAB#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
<dd><a href="http://www.informatics.jax.org/marker/MGI:88516" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></dd>
<dd><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=MGI:88516" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gene/1410/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></dd>
<dd><a href="https://www.orthodb.org/?ncbi=1410" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></dd>
Wormbase Gene</dd>
<dd style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00002011;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00002011 </a></dd><dd style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00002012;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00002012 </a></dd><dd style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00002013;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00002013 </a></dd><dd style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00011906;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00011906 </a></dd>
<dd><a href="https://zfin.org/ZDB-GENE-040718-419" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Cellular Pathways</dt>
<dd><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1410" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></dd>
<dd><a href="https://reactome.org/content/query?q=CRYAB&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></dd>
</dl>
</td>
</tr>
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<div id="mimDisorderCodesFold_7" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding">
<caption>
ICD+
</caption>
<tbody>
<tr>
<td>
<dl>
<dd>SNOMEDCT: 399336001, 782883004</dd>
</dl>
</td>
</tr>
</tbody>
</table>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
8:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<a href="/entry/125660?search=102565%20123590%20125660%20300163%20601419%20603883%20604103%20605906%20608810%20609200%20609452%20609524%20611332&highlight=102565%2C123590%2C125660%2C601419%2C605906%2C608810%2C609200%2C609452%2C609524%2C611332">
<span class="mim-tip-hint" title="Gene description">
<span class="text-danger"><strong>*</strong></span>
125660.
</span>
DESMIN; DES
</a>
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">
<a href="/geneMap/2/1040?start=-3&limit=10&highlight=1040">
2q35</a></span>,
Genomic coordinates <span class="small">(GRCh38)</span>: <span class="mim-font"><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:219418377-219426734&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">2:219,418,377-219,426,734</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">125660</span></span>
<br />
<a href="#mimGeneMapFold_8" id="mimGeneMapToggle_8" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimGeneMapToggleTriangle_8" class="mimSingletonToggleTriangle" style="color: DarkOrchid">►</span> Gene-Phenotype Relationships</span></a>
<a href="#mimDisorderCodesFold_8" id="mimDisorderCodesToggle_8" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'ICD+'})"><span class="small"><span id="mimDisorderCodesToggleTriangle_8" class="mimSingletonToggleTriangle" style="color: DarkRed">►</span> ICD+</span></a>
<a href="#mimLinksFold_8" id="mimLinksToggle_8" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'Links'})"><span class="small"><span id="mimLinksToggleTriangle_8" class="mimSingletonToggleTriangle" style="color: #337CB5">►</span> Links</span></a>
<div id="mimGeneMapFold_8" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-bordered table-condensed small mim-table-padding">
<caption>
Gene-Phenotype Relationships
</caption>
<thead>
<tr>
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
</tr>
</thead>
<tbody>
<tr>
<td rowspan="3">
<span class="mim-font">
<a href="/geneMap/2/1040?start=-3&limit=10&highlight=1040">
2q35
</a>
</span>
</td>
<td>
<span class="mim-font">
Cardiomyopathy, dilated, 1I
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604765"> 604765 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
Myopathy, myofibrillar, 1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601419"> 601419 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
Scapuloperoneal syndrome, neurogenic, Kaeser type
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/181400"> 181400 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
</tr>
</tbody>
</table>
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<div id="mimLinksFold_8" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding ">
<caption>
Links
</caption>
<tbody>
<tr>
<td>
<dl>
<dt>Testing</dt>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=125660[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Genome</dt>
<dd><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000175084;t=ENST00000373960" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=1674" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></dd>
<dd><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=125660" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></dd>
</dl>
</td>
<td>
<dl>
<dt>DNA</dt>
<dd><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000175084;t=ENST00000373960" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001382708,NM_001382709,NM_001382710,NM_001382711,NM_001382712,NM_001382713,NM_001927" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001927" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></dd>
<dd><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=125660" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Protein</dt>
<dd><a href="https://hprd.org/summary?hprd_id=00514&isoform_id=00514_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></dd>
<dd><a href="https://www.proteinatlas.org/search/DES" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/protein/181540,1408188,3411130,3411132,3411134,4378979,6523261,6531404,6686280,11907570,12003119,12003121,19698555,19774203,19908424,21358854,21594664,22415740,23194177,23506465,55749932,55774607,55774609,55774611,62822503,71011040,71011081,71011128,83637999,119591145,119591146,119591147,148728589,194374059,308219100,440355926,440355928,1471766851,1843657965,1843657969,1843658013,1843658029,1843658088,1843658111" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></dd>
<dd><a href="https://www.uniprot.org/uniprotkb/P17661" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Gene Info</dt>
<dd><a href="http://biogps.org/#goto=genereport&id=1674" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></dd>
<dd><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000175084;t=ENST00000373960" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></dd>
<dd><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=DES" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></dd>
<dd><a href="http://amigo.geneontology.org/amigo/search/annotation?q=DES" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></dd>
<dd><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+1674" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></dd>
<dd><a href="http://v1.marrvel.org/search/gene/DES" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
<dd><a href="https://monarchinitiative.org/NCBIGene:1674" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gene/1674" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></dd>
<dd><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr2&hgg_gene=ENST00000373960.4&hgg_start=219418377&hgg_end=219426734&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Clinical Resources</dt>
<dd><a href="https://search.clinicalgenome.org/kb/genes/HGNC:2770" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=125660[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Variation</dt>
<dd><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=125660[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></dd>
<dd><a href="https://gnomad.broadinstitute.org/gene/ENSG00000175084" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></dd>
<dd><a href="https://www.gwascentral.org/search?q=DES" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></dd>
<dd><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=DES" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></dd>
<dd><a href="http://www.LOVD.nl/DES" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></dd>
<dd><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=DES&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></dd>
<dd><a href="https://www.pharmgkb.org/gene/PA27253" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Animal Models</dt>
<dd><a href="https://www.alliancegenome.org/gene/HGNC:2770" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></dd>
<dd><a href="https://www.mousephenotype.org/data/genes/MGI:94885" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></dd>
<dd><a href="http://v1.marrvel.org/search/gene/DES#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
<dd><a href="http://www.informatics.jax.org/marker/MGI:94885" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></dd>
<dd><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=MGI:94885" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gene/1674/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></dd>
<dd><a href="https://www.orthodb.org/?ncbi=1674" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></dd>
<dd><a href="https://wormbase.org/db/gene/gene?name=WBGene00002058;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></dd> Wormbase Gene
<dd><a href="https://zfin.org/ZDB-GENE-061027-102" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Cellular Pathways</dt>
<dd><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1674" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></dd>
<dd><a href="https://reactome.org/content/query?q=DES&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></dd>
</dl>
</td>
</tr>
</tbody>
</table>
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<a href="#mimLinksFold_8" data-toggle="collapse">▲ Close</a>
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<div id="mimDisorderCodesFold_8" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding">
<caption>
ICD+
</caption>
<tbody>
<tr>
<td>
<dl>
<dd>SNOMEDCT: 1208615009, 770627003</dd>
</dl>
</td>
</tr>
</tbody>
</table>
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<div class="row">
<p />
</div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
9:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<a href="/entry/601419?search=102565%20123590%20125660%20300163%20601419%20603883%20604103%20605906%20608810%20609200%20609452%20609524%20611332&highlight=102565%2C123590%2C125660%2C601419%2C605906%2C608810%2C609200%2C609452%2C609524%2C611332">
<span class="mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
601419.
</span>
MYOPATHY, MYOFIBRILLAR, 1; MFM1
</a>
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">
<a href="/geneMap/2/1040?start=-3&limit=10&highlight=1040">
2q35</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">601419</span></span>
<br />
<a href="#mimPhenotypeMapFold_9" id="mimPhenotypeMapToggle_9" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimPhenotypeMapToggleTriangle_9" class="mimPingletonToggleTriangle" style="color: DarkOrchid">►</span> Phenotype-Gene Relationships</span></a>
<a href="#mimPhenotypicSeriesFold_9" id="mimPhenotypicSeriesToggle_9" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'PhenotypicSeries'})"><span class="small"><span id="mimPhenotypicSeriesToggleTriangle_9" class="mimSingletonToggleTriangle" style="color: #47B7D9">►</span> Phenotypic Series</span></a>
<a href="#mimDisorderCodesFold_9" id="mimDisorderCodesToggle_9" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'ICD+'})"><span class="small"><span id="mimDisorderCodesToggleTriangle_9" class="mimSingletonToggleTriangle" style="color: DarkRed">►</span> ICD+</span></a>
<a href="#mimLinksFold_9" id="mimLinksToggle_9" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'Links'})"><span class="small"><span id="mimLinksToggleTriangle_9" class="mimSingletonToggleTriangle" style="color: #337CB5">►</span> Links</span></a>
<div id="mimPhenotypeMapFold_9" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-bordered table-condensed small mim-table-padding">
<caption>
Phenotype-Gene Relationships
</caption>
<thead>
<tr>
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/1040?start=-3&limit=10&highlight=1040">
2q35
</a>
</span>
</td>
<td>
<span class="mim-font">
Myopathy, myofibrillar, 1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601419"> 601419 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
DES
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/125660"> 125660 </a>
</span>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimPhenotypeMapFold_9" data-toggle="collapse">▲ Close</a>
</div>
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<div id="mimPhenotypicSeriesFold_9" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Myopathy, myofibrillar
- <a href="/phenotypicSeries/PS601419">PS601419</a>
- 14 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/823?start=-3&limit=10&highlight=823"> 2q31.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603689"> Myopathy, myofibrillar, 9, with early respiratory failure </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/603689"> 603689 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/188840"> TTN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/188840"> 188840 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/1040?start=-3&limit=10&highlight=1040"> 2q35 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601419"> Myopathy, myofibrillar, 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601419"> 601419 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/125660"> DES </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/125660"> 125660 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/702?start=-3&limit=10&highlight=702"> 3q22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617114"> Myopathy, myofibrillar, 7 </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/617114"> 617114 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605739"> KY </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605739"> 605739 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/497?start=-3&limit=10&highlight=497"> 5q31.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609200"> Myopathy, myofibrillar, 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609200"> 609200 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604103"> MYOT </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604103"> 604103 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/659?start=-3&limit=10&highlight=659"> 7q32.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609524"> Myopathy, myofibrillar, 5 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609524"> 609524 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102565"> FLNC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102565"> 102565 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/129?start=-3&limit=10&highlight=129"> 10p11.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619040"> Myofibrillar myopathy 10 </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/619040"> 619040 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604126"> SVIL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604126"> 604126 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/355?start=-3&limit=10&highlight=355"> 10q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609452"> Myopathy, myofibrillar, 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/609452"> 609452 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605906"> LDB3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605906"> 605906 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/613?start=-3&limit=10&highlight=613"> 10q26.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612954"> Myopathy, myofibrillar, 6 </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/612954"> 612954 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603883"> BAG3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603883"> 603883 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/925?start=-3&limit=10&highlight=925"> 11q23.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608810"> Myopathy, myofibrillar, 2 </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/608810"> 608810 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123590"> CRYAB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123590"> 123590 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/925?start=-3&limit=10&highlight=925"> 11q23.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613869"> Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related </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/613869"> 613869 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123590"> CRYAB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123590"> 123590 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/223?start=-3&limit=10&highlight=223"> 12p12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617258"> Myopathy, myofibrillar, 8 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617258"> 617258 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617220"> PYROXD1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617220"> 617220 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/809?start=-3&limit=10&highlight=809"> 12q24.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619424"> Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy </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/619424"> 619424 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160781"> MYL2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160781"> 160781 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/858?start=-3&limit=10&highlight=858"> 12q24.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/621078"> Myopathy, myofibrillar, 13, with rimmed vacuoles </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/621078"> 621078 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608014"> HSPB8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608014"> 608014 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/417?start=-3&limit=10&highlight=417"> 17q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619178"> Myofibrillar myopathy 11 </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/619178"> 619178 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611220"> UNC45B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611220"> 611220 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="text-right small">
<a href="#mimPhenotypicSeriesFold_9" data-toggle="collapse">▲ Close</a>
</div>
</div>
</div>
<div id="mimLinksFold_9" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding ">
<caption>
Links
</caption>
<tbody>
<tr>
<td>
<dl>
<dt>Testing</dt>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=601419[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=13926&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Clinical Resources</dt>
<dd><a href="https://clinicaltrials.gov/search?cond=(MYOPATHY, MYOFIBRILLAR) OR (DES)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=13926&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></dd>
<dd><a href="https://www.diseaseinfosearch.org/x/8941" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=601419[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98909" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Animal Models</dt>
<dd><a href="https://www.alliancegenome.org/disease/DOID:0080092" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></dd>
<dd><a href="http://www.informatics.jax.org/disease/601419" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></dd>
<dd><a href="https://omia.org/OMIA002330/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></dd>
<dd><a href="https://wormbase.org/resources/disease/DOID:0080092" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Cell Lines</dt>
<dd><a href="https://catalog.coriell.org/Search?q=OmimNum:601419" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></dd>
</dl>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimLinksFold_9" data-toggle="collapse">▲ Close</a>
</div>
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<div id="mimDisorderCodesFold_9" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding">
<caption>
ICD+
</caption>
<tbody>
<tr>
<td>
<dl>
<dd>SNOMEDCT: 770627003</dd>
<dd>ORPHA: 98909</dd>
<dd>DO: 0080092</dd>
</dl>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimDisorderCodesFold_9" data-toggle="collapse">▲ Close</a>
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</div>
</div>
</div>
<div class="row">
<p />
</div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
10:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<a href="/entry/605906?search=102565%20123590%20125660%20300163%20601419%20603883%20604103%20605906%20608810%20609200%20609452%20609524%20611332&highlight=102565%2C123590%2C125660%2C601419%2C605906%2C608810%2C609200%2C609452%2C609524%2C611332">
<span class="mim-tip-hint" title="Gene description">
<span class="text-danger"><strong>*</strong></span>
605906.
</span>
LIM DOMAIN-BINDING 3; LDB3
</a>
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">
<a href="/geneMap/10/355?start=-3&limit=10&highlight=355">
10q23.2</a></span>,
Genomic coordinates <span class="small">(GRCh38)</span>: <span class="mim-font"><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr10:86666788-86736072&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">10:86,666,788-86,736,072</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">605906</span></span>
<br />
<a href="#mimGeneMapFold_10" id="mimGeneMapToggle_10" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimGeneMapToggleTriangle_10" class="mimSingletonToggleTriangle" style="color: DarkOrchid">►</span> Gene-Phenotype Relationships</span></a>
<a href="#mimLinksFold_10" id="mimLinksToggle_10" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'Links'})"><span class="small"><span id="mimLinksToggleTriangle_10" class="mimSingletonToggleTriangle" style="color: #337CB5">►</span> Links</span></a>
<div id="mimGeneMapFold_10" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-bordered table-condensed small mim-table-padding">
<caption>
Gene-Phenotype Relationships
</caption>
<thead>
<tr>
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
</tr>
</thead>
<tbody>
<tr>
<td rowspan="4">
<span class="mim-font">
<a href="/geneMap/10/355?start=-3&limit=10&highlight=355">
10q23.2
</a>
</span>
</td>
<td>
<span class="mim-font">
Cardiomyopathy, dilated, 1C, with or without LVNC
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601493"> 601493 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
Cardiomyopathy, hypertrophic, 24
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601493"> 601493 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
Left ventricular noncompaction 3
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601493"> 601493 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
Myopathy, myofibrillar, 4
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609452"> 609452 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimGeneMapFold_10" data-toggle="collapse">▲ Close</a>
</div>
</div>
<div id="mimLinksFold_10" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding ">
<caption>
Links
</caption>
<tbody>
<tr>
<td>
<dl>
<dt>Testing</dt>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=605906[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Genome</dt>
<dd><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000122367;t=ENST00000361373" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=11155" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></dd>
<dd><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=605906" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></dd>
</dl>
</td>
<td>
<dl>
<dt>DNA</dt>
<dd><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000122367;t=ENST00000361373" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001080114,NM_001080115,NM_001080116,NM_001171610,NM_001171611,NM_001368063,NM_001368064,NM_001368065,NM_001368066,NM_001368067,NM_001368068,NM_007078" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_007078" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></dd>
<dd><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=605906" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Protein</dt>
<dd><a href="https://hprd.org/summary?hprd_id=16172&isoform_id=16172_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></dd>
<dd><a href="https://www.proteinatlas.org/search/LDB3" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/protein/5441367,5441369,5441371,15012060,33339649,33339651,33339653,45592959,83288256,119600728,119600729,119600730,119600731,119600732,119600733,119600734,119600735,122056614,122056617,122056619,124302200,194374125,194378210,194388262,194388458,284413714,284413716,563426653,929654053,957950835,957950838,957950841,1471157352,1471773419,1471780860,1471863375,1552040485,1552040490,1552040502,1552040516,1552040527,1552040534" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></dd>
<dd><a href="https://www.uniprot.org/uniprotkb/O75112" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Gene Info</dt>
<dd><a href="http://biogps.org/#goto=genereport&id=11155" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></dd>
<dd><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000122367;t=ENST00000361373" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></dd>
<dd><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=LDB3" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></dd>
<dd><a href="http://amigo.geneontology.org/amigo/search/annotation?q=LDB3" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></dd>
<dd><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+11155" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></dd>
<dd><a href="http://v1.marrvel.org/search/gene/LDB3" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
<dd><a href="https://monarchinitiative.org/NCBIGene:11155" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gene/11155" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></dd>
<dd><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr10&hgg_gene=ENST00000443292.2&hgg_start=86666788&hgg_end=86736072&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Clinical Resources</dt>
<dd><a href="https://search.clinicalgenome.org/kb/genes/HGNC:15710" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></dd>
<dd><a href="https://medlineplus.gov/genetics/gene/ldb3" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=605906[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Variation</dt>
<dd><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=605906[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></dd>
<dd><a href="https://www.deciphergenomics.org/gene/LDB3/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></dd>
<dd><a href="https://gnomad.broadinstitute.org/gene/ENSG00000122367" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></dd>
<dd><a href="https://www.ebi.ac.uk/gwas/search?query=LDB3" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></dd>
<dd><a href="https://www.gwascentral.org/search?q=LDB3" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></dd>
<dd><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=LDB3" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></dd>
<dd><a href="http://www.LOVD.nl/LDB3" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></dd>
<dd><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=LDB3&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></dd>
<dd><a href="https://www.pharmgkb.org/gene/PA30318" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Animal Models</dt>
<dd><a href="https://www.alliancegenome.org/gene/HGNC:15710" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></dd>
<dd><a href="https://flybase.org/reports/FBgn0265991.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></dd>
<dd><a href="https://www.mousephenotype.org/data/genes/MGI:1344412" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></dd>
<dd><a href="http://v1.marrvel.org/search/gene/LDB3#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
<dd><a href="http://www.informatics.jax.org/marker/MGI:1344412" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></dd>
<dd><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=MGI:1344412" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gene/11155/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></dd>
<dd><a href="https://www.orthodb.org/?ncbi=11155" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></dd>
<dd><a href="https://wormbase.org/db/gene/gene?name=WBGene00001132;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></dd> Wormbase Gene
<dd><a href="https://zfin.org/ZDB-GENE-030131-6032" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Cellular Pathways</dt>
<dd><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:11155" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></dd>
<dd><a href="https://reactome.org/content/query?q=LDB3&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></dd>
</dl>
</td>
</tr>
</tbody>
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Search: <span class="mim-text-font">102565 123590 125660 300163 601419 603883 604103 605906 608810 609200 609452 609524 611332 (Search in: MIM number)</span>
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Results: 13 entries.
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1:
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<span class="text-danger"><strong>*</strong></span>
102565.
FILAMIN C; FLNC
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Cytogenetic location: <span class="mim-font">7q32.1</span>,
Genomic coordinates <span class="small">(GRCh38)</span>: <span class="mim-font">7:128,830,406-128,859,272</span>
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<span class="text-success">Matching terms: <span class="mim-font">102565</span></span>
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<span class="text-danger"><strong>#</strong></span>
608810.
MYOPATHY, MYOFIBRILLAR, 2; MFM2
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Cytogenetic location:
<span class="mim-font">11q23.1</a></span>
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<span class="text-success">Matching terms: <span class="mim-font">608810</span></span>
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3:
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<span class="text-danger"><strong>#</strong></span>
609200.
MYOPATHY, MYOFIBRILLAR, 3; MFM3
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Cytogenetic location:
<span class="mim-font">5q31.2</a></span>
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<span class="text-success">Matching terms: <span class="mim-font">609200</span></span>
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4:
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<span class="text-danger"><strong>#</strong></span>
609452.
MYOPATHY, MYOFIBRILLAR, 4; MFM4
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Cytogenetic location:
<span class="mim-font">10q23.2</a></span>
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<span class="text-success">Matching terms: <span class="mim-font">609452</span></span>
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5:
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<span class="text-danger"><strong>#</strong></span>
609524.
MYOPATHY, MYOFIBRILLAR, 5; MFM5
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Cytogenetic location:
<span class="mim-font">7q32.1</a></span>
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<span class="text-success">Matching terms: <span class="mim-font">609524</span></span>
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6:
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<span class="text-danger"><strong>*</strong></span>
611332.
DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 6; DNAJB6
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Cytogenetic location: <span class="mim-font">7q36.3</span>,
Genomic coordinates <span class="small">(GRCh38)</span>: <span class="mim-font">7:157,337,004-157,417,439</span>
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<span class="text-success">Matching terms: <span class="mim-font">611332</span></span>
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123590.
CRYSTALLIN, ALPHA-B; CRYAB
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Cytogenetic location: <span class="mim-font">11q23.1</span>,
Genomic coordinates <span class="small">(GRCh38)</span>: <span class="mim-font">11:111,908,564-111,923,740</span>
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<span class="text-success">Matching terms: <span class="mim-font">123590</span></span>
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8:
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125660.
DESMIN; DES
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Cytogenetic location: <span class="mim-font">2q35</span>,
Genomic coordinates <span class="small">(GRCh38)</span>: <span class="mim-font">2:219,418,377-219,426,734</span>
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<span class="text-success">Matching terms: <span class="mim-font">125660</span></span>
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9:
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<span class="text-danger"><strong>#</strong></span>
601419.
MYOPATHY, MYOFIBRILLAR, 1; MFM1
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Cytogenetic location:
<span class="mim-font">2q35</a></span>
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<span class="text-success">Matching terms: <span class="mim-font">601419</span></span>
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605906.
LIM DOMAIN-BINDING 3; LDB3
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Cytogenetic location: <span class="mim-font">10q23.2</span>,
Genomic coordinates <span class="small">(GRCh38)</span>: <span class="mim-font">10:86,666,788-86,736,072</span>
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<span class="text-success">Matching terms: <span class="mim-font">605906</span></span>
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