@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP363946.RAbFSdPGPoXUsxYiPrWhIKi-VhJpIEWpe0SISSFBgJjAs> .
@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:NP363946.RAbFSdPGPoXUsxYiPrWhIKi-VhJpIEWpe0SISSFBgJjAs130_head {
  this: np:hasAssertion dgn-np:NP363946.RAbFSdPGPoXUsxYiPrWhIKi-VhJpIEWpe0SISSFBgJjAs130_assertion;
    np:hasProvenance dgn-np:NP363946.RAbFSdPGPoXUsxYiPrWhIKi-VhJpIEWpe0SISSFBgJjAs130_provenance;
    np:hasPublicationInfo dgn-np:NP363946.RAbFSdPGPoXUsxYiPrWhIKi-VhJpIEWpe0SISSFBgJjAs130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP363946.RAbFSdPGPoXUsxYiPrWhIKi-VhJpIEWpe0SISSFBgJjAs130_assertion a np:Assertion .
  
  dgn-np:NP363946.RAbFSdPGPoXUsxYiPrWhIKi-VhJpIEWpe0SISSFBgJjAs130_provenance a np:Provenance .
  
  dgn-np:NP363946.RAbFSdPGPoXUsxYiPrWhIKi-VhJpIEWpe0SISSFBgJjAs130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP363946.RAbFSdPGPoXUsxYiPrWhIKi-VhJpIEWpe0SISSFBgJjAs130_assertion {
  miriam-gene:1391 a ncit:C16612 .
  
  lld:C0011053 a ncit:C7057 .
  
  dgn-gda:DGNbbfa02de88fd402c0f3cde2956bc2151 sio:SIO_000628 miriam-gene:1391, lld:C0011053;
    a sio:SIO_001121 .
}

dgn-np:NP363946.RAbFSdPGPoXUsxYiPrWhIKi-VhJpIEWpe0SISSFBgJjAs130_provenance {
  dgn-np:NP363946.RAbFSdPGPoXUsxYiPrWhIKi-VhJpIEWpe0SISSFBgJjAs130_assertion dcterms:description
      "[A patient with the CHARGE association (Coloboma of the eye, Heart defect, Atresia of the choana, Retarded growth and development, Genital hypoplasia, and Ear anomalies or deafness) had intermittent hyperpnea and cerebellar hypoplasia; therefore, he had both the CHARGE association and Joubert syndrome.]. 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:1981467;
    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:NP363946.RAbFSdPGPoXUsxYiPrWhIKi-VhJpIEWpe0SISSFBgJjAs130_publicationInfo {
  this: dcterms:created "2014-10-02T12:35:33+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" .
}