@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP490397.RAE-VG-jSN1xUPd699Je0St9_PmOKfIbIHlotMf06RPIY> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
@prefix sio: <http://semanticscience.org/resource/> .
@prefix ncit: <http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#> .
@prefix lld: <http://linkedlifedata.com/resource/umls/id/> .
@prefix miriam-gene: <http://identifiers.org/ncbigene/> .
@prefix miriam-pubmed: <http://identifiers.org/pubmed/> .
@prefix eco: <http://purl.obolibrary.org/obo/eco.owl#> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/2.0/> .
@prefix prv: <http://purl.org/net/provenance/ns#> .
@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix np: <http://www.nanopub.org/nschema#> .
@prefix dgn-np: <http://rdf.disgenet.org/nanopublications.trig#> .
@prefix dgn-gda: <http://rdf.disgenet.org/gene-disease-association.ttl#> .
@prefix dgn-void: <http://rdf.disgenet.org/v2.1.0/void.ttl#> .

dgn-np:NP490397.RAE-VG-jSN1xUPd699Je0St9_PmOKfIbIHlotMf06RPIY130_head {
  this: np:hasAssertion dgn-np:NP490397.RAE-VG-jSN1xUPd699Je0St9_PmOKfIbIHlotMf06RPIY130_assertion;
    np:hasProvenance dgn-np:NP490397.RAE-VG-jSN1xUPd699Je0St9_PmOKfIbIHlotMf06RPIY130_provenance;
    np:hasPublicationInfo dgn-np:NP490397.RAE-VG-jSN1xUPd699Je0St9_PmOKfIbIHlotMf06RPIY130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP490397.RAE-VG-jSN1xUPd699Je0St9_PmOKfIbIHlotMf06RPIY130_assertion a np:Assertion .
  
  dgn-np:NP490397.RAE-VG-jSN1xUPd699Je0St9_PmOKfIbIHlotMf06RPIY130_provenance a np:Provenance .
  
  dgn-np:NP490397.RAE-VG-jSN1xUPd699Je0St9_PmOKfIbIHlotMf06RPIY130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP490397.RAE-VG-jSN1xUPd699Je0St9_PmOKfIbIHlotMf06RPIY130_assertion {
  miriam-gene:791254 a ncit:C16612 .
  
  lld:C0013720 a ncit:C7057 .
  
  dgn-gda:DGN38969b02def879193d960917dbd1ecee sio:SIO_000628 miriam-gene:791254, lld:C0013720;
    a sio:SIO_001121 .
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dgn-np:NP490397.RAE-VG-jSN1xUPd699Je0St9_PmOKfIbIHlotMf06RPIY130_provenance {
  dgn-np:NP490397.RAE-VG-jSN1xUPd699Je0St9_PmOKfIbIHlotMf06RPIY130_assertion dcterms:description
      "[We present a four-generation EDS type VIII kindred and show that EDS VIII is clinically variable and although some cases lack the associated skin and joint manifestations, microscopic evidence of collagen disorganization is detectable.We further propose that the diagnosis of EDS type VIII should be considered in familial forms of periodontitis, even when the associated skin and joint manifestations are unconvincing for the diagnosis of a connective tissue disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
    wi:evidence dgn-void:source_evidence_literature;
    sio:SIO_000772 miriam-pubmed:22739343;
    prov:wasDerivedFrom dgn-void:befree-20140225;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^xsd:date .
  
  dgn-void:source_evidence_literature a eco:ECO_0000212;
    rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en;
    rdfs:label "DisGeNET evidence - LITERATURE"@en .
}

dgn-np:NP490397.RAE-VG-jSN1xUPd699Je0St9_PmOKfIbIHlotMf06RPIY130_publicationInfo {
  this: dcterms:created "2014-10-02T12:36:53+02:00"^^xsd:dateTime;
    dcterms:rights <http://opendatacommons.org/licenses/odbl/1.0/>;
    dcterms:rightsHolder dgn-void:IBIGroup;
    dcterms:subject sio:SIO_000983;
    prv:usedData dgn-void:disgenetrdf;
    pav:authoredBy <http://orcid.org/0000-0001-5999-6269>, <http://orcid.org/0000-0002-7534-7661>,
      <http://orcid.org/0000-0002-9383-528X>, <http://orcid.org/0000-0003-0169-8159>, <http://orcid.org/0000-0003-1244-7654>;
    pav:createdBy <http://orcid.org/0000-0003-0169-8159>;
    pav:version "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}