@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP479265.RA1nGeYqrOo_kukWJVgel1ZM_qKrRNubAnkK5W0S0DSHM> .
@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/> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/> .
@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/resource/nanopub/> .
@prefix dgn-gda: <http://rdf.disgenet.org/resource/gda/> .
@prefix dgn-void: <http://rdf.disgenet.org/v4.0.0/void/> .

dgn-np:NP479265.RA1nGeYqrOo_kukWJVgel1ZM_qKrRNubAnkK5W0S0DSHM130_head {
  this: np:hasAssertion dgn-np:NP479265.RA1nGeYqrOo_kukWJVgel1ZM_qKrRNubAnkK5W0S0DSHM130_assertion;
    np:hasProvenance dgn-np:NP479265.RA1nGeYqrOo_kukWJVgel1ZM_qKrRNubAnkK5W0S0DSHM130_provenance;
    np:hasPublicationInfo dgn-np:NP479265.RA1nGeYqrOo_kukWJVgel1ZM_qKrRNubAnkK5W0S0DSHM130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP479265.RA1nGeYqrOo_kukWJVgel1ZM_qKrRNubAnkK5W0S0DSHM130_assertion a np:Assertion .
  
  dgn-np:NP479265.RA1nGeYqrOo_kukWJVgel1ZM_qKrRNubAnkK5W0S0DSHM130_provenance a np:Provenance .
  
  dgn-np:NP479265.RA1nGeYqrOo_kukWJVgel1ZM_qKrRNubAnkK5W0S0DSHM130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP479265.RA1nGeYqrOo_kukWJVgel1ZM_qKrRNubAnkK5W0S0DSHM130_assertion {
  miriam-gene:5727 a ncit:C16612 .
  
  lld:C0004779 a ncit:C7057 .
  
  dgn-gda:DGNe2786fa0f8d405de47fae3bdd5c86a59 sio:SIO_000628 miriam-gene:5727, lld:C0004779;
    a sio:SIO_001121 .
}

dgn-np:NP479265.RA1nGeYqrOo_kukWJVgel1ZM_qKrRNubAnkK5W0S0DSHM130_provenance {
  dgn-np:NP479265.RA1nGeYqrOo_kukWJVgel1ZM_qKrRNubAnkK5W0S0DSHM130_assertion dcterms:description
      "[Basal cell nevus syndrome (Gorlin syndrome) is an autosomal dominant disorder characterized by the presence of multiple basal cell carcinomas (BCC), odontogenic keratocysts, palmoplantar pits, and calcification in the falx cerebri caused by mutational inactivation of the PTCH gene.]. 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:15690381;
    prov:wasDerivedFrom dgn-void:befree-2016;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP479265.RA1nGeYqrOo_kukWJVgel1ZM_qKrRNubAnkK5W0S0DSHM130_publicationInfo {
  this: dcterms:created "2016-05-13T12:45:22+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:disgenetv3.0rdf;
    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 "v4.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}