@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo> .
@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:NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo130_head {
  this: np:hasAssertion dgn-np:NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo130_assertion;
    np:hasProvenance dgn-np:NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo130_provenance;
    np:hasPublicationInfo dgn-np:NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo130_assertion a np:Assertion .
  
  dgn-np:NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo130_provenance a np:Provenance .
  
  dgn-np:NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo130_assertion {
  miriam-gene:1593 a ncit:C16612 .
  
  lld:C0238052 a ncit:C7057 .
  
  dgn-gda:DGN78392603aad1aa04837e585d9b20b5b0 sio:SIO_000628 miriam-gene:1593, lld:C0238052;
    a sio:SIO_001121 .
}

dgn-np:NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo130_provenance {
  dgn-np:NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo130_assertion dcterms:description
      "[The classical symptoms and signs, namely elevated levels of cholestanol and bile alcohols in serum and urine, brain MRI, and the mutation in the CYP27A1 gene confirm the diagnosis of CTX.]. 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:25424010;
    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:NP1240045.RA2LYjeZR7AkK3K5VA46v0mSsugNWuYiSZzIsePhbh3qo130_publicationInfo {
  this: dcterms:created "2016-05-13T12:51:08+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" .
}