@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP750880.RAC_ZEYRYinkxGqUeqt_A_neRfSsCYP6qbYd9zZw1GODE> .
@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:NP750880.RAC_ZEYRYinkxGqUeqt_A_neRfSsCYP6qbYd9zZw1GODE130_head {
  this: np:hasAssertion dgn-np:NP750880.RAC_ZEYRYinkxGqUeqt_A_neRfSsCYP6qbYd9zZw1GODE130_assertion;
    np:hasProvenance dgn-np:NP750880.RAC_ZEYRYinkxGqUeqt_A_neRfSsCYP6qbYd9zZw1GODE130_provenance;
    np:hasPublicationInfo dgn-np:NP750880.RAC_ZEYRYinkxGqUeqt_A_neRfSsCYP6qbYd9zZw1GODE130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP750880.RAC_ZEYRYinkxGqUeqt_A_neRfSsCYP6qbYd9zZw1GODE130_assertion a np:Assertion .
  
  dgn-np:NP750880.RAC_ZEYRYinkxGqUeqt_A_neRfSsCYP6qbYd9zZw1GODE130_provenance a np:Provenance .
  
  dgn-np:NP750880.RAC_ZEYRYinkxGqUeqt_A_neRfSsCYP6qbYd9zZw1GODE130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP750880.RAC_ZEYRYinkxGqUeqt_A_neRfSsCYP6qbYd9zZw1GODE130_assertion {
  miriam-gene:5310 a ncit:C16612 .
  
  lld:C0265334 a ncit:C7057 .
  
  dgn-gda:DGNc653265fbbaa74b33a3791db7dd470bd sio:SIO_000628 miriam-gene:5310, lld:C0265334;
    a sio:SIO_001121 .
}

dgn-np:NP750880.RAC_ZEYRYinkxGqUeqt_A_neRfSsCYP6qbYd9zZw1GODE130_provenance {
  dgn-np:NP750880.RAC_ZEYRYinkxGqUeqt_A_neRfSsCYP6qbYd9zZw1GODE130_assertion dcterms:description
      "[This report is the first case of pachyonychia congenita with laryngeal obstruction in which the gene mutation has been established (a deletional mutation in K6a), confirming that laryngeal obstruction can occur in PC-1.]. 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:21554383;
    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:NP750880.RAC_ZEYRYinkxGqUeqt_A_neRfSsCYP6qbYd9zZw1GODE130_publicationInfo {
  this: dcterms:created "2014-10-02T12:39:35+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" .
}