@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP563966.RAv_1QqqRBT3wx8xeVA8tnJwuCG_dtzEdJXgBf84lUoWI> .
@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:NP563966.RAv_1QqqRBT3wx8xeVA8tnJwuCG_dtzEdJXgBf84lUoWI130_head {
  this: np:hasAssertion dgn-np:NP563966.RAv_1QqqRBT3wx8xeVA8tnJwuCG_dtzEdJXgBf84lUoWI130_assertion;
    np:hasProvenance dgn-np:NP563966.RAv_1QqqRBT3wx8xeVA8tnJwuCG_dtzEdJXgBf84lUoWI130_provenance;
    np:hasPublicationInfo dgn-np:NP563966.RAv_1QqqRBT3wx8xeVA8tnJwuCG_dtzEdJXgBf84lUoWI130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP563966.RAv_1QqqRBT3wx8xeVA8tnJwuCG_dtzEdJXgBf84lUoWI130_assertion a np:Assertion .
  
  dgn-np:NP563966.RAv_1QqqRBT3wx8xeVA8tnJwuCG_dtzEdJXgBf84lUoWI130_provenance a np:Provenance .
  
  dgn-np:NP563966.RAv_1QqqRBT3wx8xeVA8tnJwuCG_dtzEdJXgBf84lUoWI130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP563966.RAv_1QqqRBT3wx8xeVA8tnJwuCG_dtzEdJXgBf84lUoWI130_assertion {
  miriam-gene:5727 a ncit:C16612 .
  
  lld:C0004779 a ncit:C7057 .
  
  dgn-gda:DGN3b0239b6aae0906e18375108e4041a39 sio:SIO_000628 miriam-gene:5727, lld:C0004779;
    a sio:SIO_001121 .
}

dgn-np:NP563966.RAv_1QqqRBT3wx8xeVA8tnJwuCG_dtzEdJXgBf84lUoWI130_provenance {
  dgn-np:NP563966.RAv_1QqqRBT3wx8xeVA8tnJwuCG_dtzEdJXgBf84lUoWI130_assertion dcterms:description
      "[We report on the occurrence of discrete patches of unusually long pigmented hair on the skin of three patients with Gorlin syndrome from two unrelated families with confirmed heterozygous mutations in the Patched (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:16906569;
    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:NP563966.RAv_1QqqRBT3wx8xeVA8tnJwuCG_dtzEdJXgBf84lUoWI130_publicationInfo {
  this: dcterms:created "2016-05-13T12:46:00+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" .
}