@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1354452.RAqeJGU1S3BHZnt7MetC9LuuM0eNY5YHoPiJvIYL6diCA> .
@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:NP1354452.RAqeJGU1S3BHZnt7MetC9LuuM0eNY5YHoPiJvIYL6diCA130_head {
  this: np:hasAssertion dgn-np:NP1354452.RAqeJGU1S3BHZnt7MetC9LuuM0eNY5YHoPiJvIYL6diCA130_assertion;
    np:hasProvenance dgn-np:NP1354452.RAqeJGU1S3BHZnt7MetC9LuuM0eNY5YHoPiJvIYL6diCA130_provenance;
    np:hasPublicationInfo dgn-np:NP1354452.RAqeJGU1S3BHZnt7MetC9LuuM0eNY5YHoPiJvIYL6diCA130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1354452.RAqeJGU1S3BHZnt7MetC9LuuM0eNY5YHoPiJvIYL6diCA130_assertion a np:Assertion .
  
  dgn-np:NP1354452.RAqeJGU1S3BHZnt7MetC9LuuM0eNY5YHoPiJvIYL6diCA130_provenance a np:Provenance .
  
  dgn-np:NP1354452.RAqeJGU1S3BHZnt7MetC9LuuM0eNY5YHoPiJvIYL6diCA130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1354452.RAqeJGU1S3BHZnt7MetC9LuuM0eNY5YHoPiJvIYL6diCA130_assertion {
  miriam-gene:1593 a ncit:C16612 .
  
  lld:C0238052 a ncit:C7057 .
  
  dgn-gda:DGNe4af2b298fbb6fe58c5e57d4692c9220 sio:SIO_000628 miriam-gene:1593, lld:C0238052;
    a sio:SIO_001121 .
}

dgn-np:NP1354452.RAqeJGU1S3BHZnt7MetC9LuuM0eNY5YHoPiJvIYL6diCA130_provenance {
  dgn-np:NP1354452.RAqeJGU1S3BHZnt7MetC9LuuM0eNY5YHoPiJvIYL6diCA130_assertion dcterms:description
      "[We conclude that CTX in this English pedigree is probably due to compound mutant alleles in CYP27, that combined hyperlipidaemia in this family is unrelated to CTX, and that this complicated condition responds optimally to the combination of CDCA and simvastatin.]. 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:8730343;
    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:NP1354452.RAqeJGU1S3BHZnt7MetC9LuuM0eNY5YHoPiJvIYL6diCA130_publicationInfo {
  this: dcterms:created "2016-05-13T12:52:00+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" .
}