@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP384494.RANz47ErD7DjiWO2UcdCWoRy0cdms7nwO_fz1FrOTc-M0> .
@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:NP384494.RANz47ErD7DjiWO2UcdCWoRy0cdms7nwO_fz1FrOTc-M0130_head {
  this: np:hasAssertion dgn-np:NP384494.RANz47ErD7DjiWO2UcdCWoRy0cdms7nwO_fz1FrOTc-M0130_assertion;
    np:hasProvenance dgn-np:NP384494.RANz47ErD7DjiWO2UcdCWoRy0cdms7nwO_fz1FrOTc-M0130_provenance;
    np:hasPublicationInfo dgn-np:NP384494.RANz47ErD7DjiWO2UcdCWoRy0cdms7nwO_fz1FrOTc-M0130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP384494.RANz47ErD7DjiWO2UcdCWoRy0cdms7nwO_fz1FrOTc-M0130_assertion a np:Assertion .
  
  dgn-np:NP384494.RANz47ErD7DjiWO2UcdCWoRy0cdms7nwO_fz1FrOTc-M0130_provenance a np:Provenance .
  
  dgn-np:NP384494.RANz47ErD7DjiWO2UcdCWoRy0cdms7nwO_fz1FrOTc-M0130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP384494.RANz47ErD7DjiWO2UcdCWoRy0cdms7nwO_fz1FrOTc-M0130_assertion {
  miriam-gene:10648 a ncit:C16612 .
  
  lld:C0008384 a ncit:C7057 .
  
  dgn-gda:DGN49dece6085acc06ef4eb5e2c63c280c5 sio:SIO_000628 miriam-gene:10648, lld:C0008384;
    a sio:SIO_001121 .
}

dgn-np:NP384494.RANz47ErD7DjiWO2UcdCWoRy0cdms7nwO_fz1FrOTc-M0130_provenance {
  dgn-np:NP384494.RANz47ErD7DjiWO2UcdCWoRy0cdms7nwO_fz1FrOTc-M0130_assertion dcterms:description
      "[By integrating observations from Mendelian and population genetics along with directed clinical phenotyping, we diagnosed clinically unapparent cholesterol ester storage disease in the affected individuals from this kindred and addressed an outstanding question about risk of cardiovascular disease in LIPA E8SJM heterozygous carriers.]. 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:24072694;
    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:NP384494.RANz47ErD7DjiWO2UcdCWoRy0cdms7nwO_fz1FrOTc-M0130_publicationInfo {
  this: dcterms:created "2014-10-02T12:35:49+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" .
}