@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP516911.RAKOwbPuCdl8bhmetblOVTicKBsg5lu5OCSikr_qfhaDA> .
@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:NP516911.RAKOwbPuCdl8bhmetblOVTicKBsg5lu5OCSikr_qfhaDA130_head {
  this: np:hasAssertion dgn-np:NP516911.RAKOwbPuCdl8bhmetblOVTicKBsg5lu5OCSikr_qfhaDA130_assertion;
    np:hasProvenance dgn-np:NP516911.RAKOwbPuCdl8bhmetblOVTicKBsg5lu5OCSikr_qfhaDA130_provenance;
    np:hasPublicationInfo dgn-np:NP516911.RAKOwbPuCdl8bhmetblOVTicKBsg5lu5OCSikr_qfhaDA130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP516911.RAKOwbPuCdl8bhmetblOVTicKBsg5lu5OCSikr_qfhaDA130_assertion a np:Assertion .
  
  dgn-np:NP516911.RAKOwbPuCdl8bhmetblOVTicKBsg5lu5OCSikr_qfhaDA130_provenance a np:Provenance .
  
  dgn-np:NP516911.RAKOwbPuCdl8bhmetblOVTicKBsg5lu5OCSikr_qfhaDA130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP516911.RAKOwbPuCdl8bhmetblOVTicKBsg5lu5OCSikr_qfhaDA130_assertion {
  miriam-gene:6663 a ncit:C16612 .
  
  lld:C0242354 a ncit:C7057 .
  
  dgn-gda:DGN3ea59cf5da8a8aa702e2c68af971cd72 sio:SIO_000628 miriam-gene:6663, lld:C0242354;
    a sio:SIO_001121 .
}

dgn-np:NP516911.RAKOwbPuCdl8bhmetblOVTicKBsg5lu5OCSikr_qfhaDA130_provenance {
  dgn-np:NP516911.RAKOwbPuCdl8bhmetblOVTicKBsg5lu5OCSikr_qfhaDA130_assertion dcterms:description
      "[Mutations in SOX10 are associated with several neurocristopathies such as Waardenburg syndrome type IV (WS4), a congenital disorder characterized by the association of hearing loss, pigmentary abnormalities, and absence of ganglion cells in the myenteric and submucosal plexus of the gastrointestinal tract, also known as aganglionic megacolon or Hirschsprung disease (HSCR).]. 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:20130826;
    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:NP516911.RAKOwbPuCdl8bhmetblOVTicKBsg5lu5OCSikr_qfhaDA130_publicationInfo {
  this: dcterms:created "2014-10-02T12:37:08+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" .
}