@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP789801.RAhuDQwZnRZR1kbNZ9CBXPYmYBeb5iYFSRCTtdQCmvZBg> .
@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:NP789801.RAhuDQwZnRZR1kbNZ9CBXPYmYBeb5iYFSRCTtdQCmvZBg130_head {
  this: np:hasAssertion dgn-np:NP789801.RAhuDQwZnRZR1kbNZ9CBXPYmYBeb5iYFSRCTtdQCmvZBg130_assertion;
    np:hasProvenance dgn-np:NP789801.RAhuDQwZnRZR1kbNZ9CBXPYmYBeb5iYFSRCTtdQCmvZBg130_provenance;
    np:hasPublicationInfo dgn-np:NP789801.RAhuDQwZnRZR1kbNZ9CBXPYmYBeb5iYFSRCTtdQCmvZBg130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP789801.RAhuDQwZnRZR1kbNZ9CBXPYmYBeb5iYFSRCTtdQCmvZBg130_assertion a np:Assertion .
  
  dgn-np:NP789801.RAhuDQwZnRZR1kbNZ9CBXPYmYBeb5iYFSRCTtdQCmvZBg130_provenance a np:Provenance .
  
  dgn-np:NP789801.RAhuDQwZnRZR1kbNZ9CBXPYmYBeb5iYFSRCTtdQCmvZBg130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP789801.RAhuDQwZnRZR1kbNZ9CBXPYmYBeb5iYFSRCTtdQCmvZBg130_assertion {
  miriam-gene:6469 a ncit:C16612 .
  
  lld:C0079541 a ncit:C7057 .
  
  dgn-gda:DGNa692ebf4613903ce754c2896bf9a429f sio:SIO_000628 miriam-gene:6469, lld:C0079541;
    a sio:SIO_001121 .
}

dgn-np:NP789801.RAhuDQwZnRZR1kbNZ9CBXPYmYBeb5iYFSRCTtdQCmvZBg130_provenance {
  dgn-np:NP789801.RAhuDQwZnRZR1kbNZ9CBXPYmYBeb5iYFSRCTtdQCmvZBg130_assertion dcterms:description
      "[The sample included patients without detected mutations in some HPE determinant genes such as SHH, GLI2, SIX3, TGIF, and PTCH, as well as the photographic documentation of the previously reported patients in our Center.]. 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:20104612;
    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:NP789801.RAhuDQwZnRZR1kbNZ9CBXPYmYBeb5iYFSRCTtdQCmvZBg130_publicationInfo {
  this: dcterms:created "2016-05-13T12:47:43+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" .
}