@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP263359.RACWm9g_vj7eqkTfrYeCmSXyfxlmATwHaoKmHtJQlNFzg> .
@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:NP263359.RACWm9g_vj7eqkTfrYeCmSXyfxlmATwHaoKmHtJQlNFzg130_head {
  this: np:hasAssertion dgn-np:NP263359.RACWm9g_vj7eqkTfrYeCmSXyfxlmATwHaoKmHtJQlNFzg130_assertion;
    np:hasProvenance dgn-np:NP263359.RACWm9g_vj7eqkTfrYeCmSXyfxlmATwHaoKmHtJQlNFzg130_provenance;
    np:hasPublicationInfo dgn-np:NP263359.RACWm9g_vj7eqkTfrYeCmSXyfxlmATwHaoKmHtJQlNFzg130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP263359.RACWm9g_vj7eqkTfrYeCmSXyfxlmATwHaoKmHtJQlNFzg130_assertion a np:Assertion .
  
  dgn-np:NP263359.RACWm9g_vj7eqkTfrYeCmSXyfxlmATwHaoKmHtJQlNFzg130_provenance a np:Provenance .
  
  dgn-np:NP263359.RACWm9g_vj7eqkTfrYeCmSXyfxlmATwHaoKmHtJQlNFzg130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP263359.RACWm9g_vj7eqkTfrYeCmSXyfxlmATwHaoKmHtJQlNFzg130_assertion {
  miriam-gene:10648 a ncit:C16612 .
  
  lld:C0008384 a ncit:C7057 .
  
  dgn-gda:DGNe9819a6d1dfee9764442b9ded5719e46 sio:SIO_000628 miriam-gene:10648, lld:C0008384;
    a sio:SIO_001121 .
}

dgn-np:NP263359.RACWm9g_vj7eqkTfrYeCmSXyfxlmATwHaoKmHtJQlNFzg130_provenance {
  dgn-np:NP263359.RACWm9g_vj7eqkTfrYeCmSXyfxlmATwHaoKmHtJQlNFzg130_assertion dcterms:description
      "[The molecular defects in the LIPA gene encoding the lysosomal acid lipase (LAL) were investigated in two unrelated patients affected with cholesteryl ester storage disease (CESD), an autosomal recessive disorder associated with LAL-deficient activity.]. 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:9367797;
    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:NP263359.RACWm9g_vj7eqkTfrYeCmSXyfxlmATwHaoKmHtJQlNFzg130_publicationInfo {
  this: dcterms:created "2014-10-02T12:34:27+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" .
}