@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP401535.RATs1PyhlXapIIKzyANaX32WQ3nhu6ubvC0YJUnwkjArM> .
@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:NP401535.RATs1PyhlXapIIKzyANaX32WQ3nhu6ubvC0YJUnwkjArM130_head {
  this: np:hasAssertion dgn-np:NP401535.RATs1PyhlXapIIKzyANaX32WQ3nhu6ubvC0YJUnwkjArM130_assertion;
    np:hasProvenance dgn-np:NP401535.RATs1PyhlXapIIKzyANaX32WQ3nhu6ubvC0YJUnwkjArM130_provenance;
    np:hasPublicationInfo dgn-np:NP401535.RATs1PyhlXapIIKzyANaX32WQ3nhu6ubvC0YJUnwkjArM130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP401535.RATs1PyhlXapIIKzyANaX32WQ3nhu6ubvC0YJUnwkjArM130_assertion a np:Assertion .
  
  dgn-np:NP401535.RATs1PyhlXapIIKzyANaX32WQ3nhu6ubvC0YJUnwkjArM130_provenance a np:Provenance .
  
  dgn-np:NP401535.RATs1PyhlXapIIKzyANaX32WQ3nhu6ubvC0YJUnwkjArM130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP401535.RATs1PyhlXapIIKzyANaX32WQ3nhu6ubvC0YJUnwkjArM130_assertion {
  miriam-gene:5873 a ncit:C16612 .
  
  lld:C0024291 a ncit:C7057 .
  
  dgn-gda:DGN0033c1efbcc730042c763ea1c3af942c sio:SIO_000628 miriam-gene:5873, lld:C0024291;
    a sio:SIO_001121 .
}

dgn-np:NP401535.RATs1PyhlXapIIKzyANaX32WQ3nhu6ubvC0YJUnwkjArM130_provenance {
  dgn-np:NP401535.RATs1PyhlXapIIKzyANaX32WQ3nhu6ubvC0YJUnwkjArM130_assertion dcterms:description
      "[Griscelli syndrome type 2 (GS2) is a rare autosomal-recessive disorder associated with a RAB27A gene mutation, and clinically manifesting as hypopigmentation, disseminated chronic encephalitis, and severe immunological disorders characterized by an accelerated hematological phase, also referred to as hemophagocytic syndrome (HS), or hemophagocytic lymphohistiocytosis (HLH).]. 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:22111599;
    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:NP401535.RATs1PyhlXapIIKzyANaX32WQ3nhu6ubvC0YJUnwkjArM130_publicationInfo {
  this: dcterms:created "2014-10-02T12:35:59+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" .
}