@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP639936.RAVvdSWNUaM8twF8ul7f6q963kdwbW5_d7iXa1DTgbMy0> .
@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/v3.0.0/void/> .

dgn-np:NP639936.RAVvdSWNUaM8twF8ul7f6q963kdwbW5_d7iXa1DTgbMy0130_head {
  this: np:hasAssertion dgn-np:NP639936.RAVvdSWNUaM8twF8ul7f6q963kdwbW5_d7iXa1DTgbMy0130_assertion;
    np:hasProvenance dgn-np:NP639936.RAVvdSWNUaM8twF8ul7f6q963kdwbW5_d7iXa1DTgbMy0130_provenance;
    np:hasPublicationInfo dgn-np:NP639936.RAVvdSWNUaM8twF8ul7f6q963kdwbW5_d7iXa1DTgbMy0130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP639936.RAVvdSWNUaM8twF8ul7f6q963kdwbW5_d7iXa1DTgbMy0130_assertion a np:Assertion .
  
  dgn-np:NP639936.RAVvdSWNUaM8twF8ul7f6q963kdwbW5_d7iXa1DTgbMy0130_provenance a np:Provenance .
  
  dgn-np:NP639936.RAVvdSWNUaM8twF8ul7f6q963kdwbW5_d7iXa1DTgbMy0130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP639936.RAVvdSWNUaM8twF8ul7f6q963kdwbW5_d7iXa1DTgbMy0130_assertion {
  miriam-gene:5551 a ncit:C16612 .
  
  lld:C0024291 a ncit:C7057 .
  
  dgn-gda:DGNe92a9d52332ca3b8251925970441406c sio:SIO_000628 miriam-gene:5551, lld:C0024291;
    a sio:SIO_001121 .
}

dgn-np:NP639936.RAVvdSWNUaM8twF8ul7f6q963kdwbW5_d7iXa1DTgbMy0130_provenance {
  dgn-np:NP639936.RAVvdSWNUaM8twF8ul7f6q963kdwbW5_d7iXa1DTgbMy0130_assertion dcterms:description
      "[This study shows variety of clinical manifestations of perforin deficiency and although the onset of hemophagocytic lymphohistiocytosis is delayed in these patients, the outcome remains poor as in classical severe perforin deficiency patients.]. 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:24390453;
    prov:wasDerivedFrom dgn-void:befree-20150227;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP639936.RAVvdSWNUaM8twF8ul7f6q963kdwbW5_d7iXa1DTgbMy0130_publicationInfo {
  this: dcterms:created "2015-08-25T14:44:03+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 "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}