@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1360040.RAxw6s3TrsMgPR7yy2MPprAydq_GHiUtR_1c-O11-Iar8> .
@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:NP1360040.RAxw6s3TrsMgPR7yy2MPprAydq_GHiUtR_1c-O11-Iar8130_head {
  this: np:hasAssertion dgn-np:NP1360040.RAxw6s3TrsMgPR7yy2MPprAydq_GHiUtR_1c-O11-Iar8130_assertion;
    np:hasProvenance dgn-np:NP1360040.RAxw6s3TrsMgPR7yy2MPprAydq_GHiUtR_1c-O11-Iar8130_provenance;
    np:hasPublicationInfo dgn-np:NP1360040.RAxw6s3TrsMgPR7yy2MPprAydq_GHiUtR_1c-O11-Iar8130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1360040.RAxw6s3TrsMgPR7yy2MPprAydq_GHiUtR_1c-O11-Iar8130_assertion a np:Assertion .
  
  dgn-np:NP1360040.RAxw6s3TrsMgPR7yy2MPprAydq_GHiUtR_1c-O11-Iar8130_provenance a np:Provenance .
  
  dgn-np:NP1360040.RAxw6s3TrsMgPR7yy2MPprAydq_GHiUtR_1c-O11-Iar8130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1360040.RAxw6s3TrsMgPR7yy2MPprAydq_GHiUtR_1c-O11-Iar8130_assertion {
  miriam-gene:3988 a ncit:C16612 .
  
  lld:C0008384 a ncit:C7057 .
  
  dgn-gda:DGNe80fd8c70e27729155eec394f07b77fd sio:SIO_000628 miriam-gene:3988, lld:C0008384;
    a sio:SIO_001121 .
}

dgn-np:NP1360040.RAxw6s3TrsMgPR7yy2MPprAydq_GHiUtR_1c-O11-Iar8130_provenance {
  dgn-np:NP1360040.RAxw6s3TrsMgPR7yy2MPprAydq_GHiUtR_1c-O11-Iar8130_assertion dcterms:description
      "[These findings, together with our previous observations when analyzing the mutations in WD and CESD patients lead to the conclusion that the more severe WD is due to mutations that absolutely abolish lysosomal acid lipase (LAL) enzyme activity and the cholesteryl ester storage disease phenotype is due to mutations that allow some residual LAL activity to be manifested.]. 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:8864960;
    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:NP1360040.RAxw6s3TrsMgPR7yy2MPprAydq_GHiUtR_1c-O11-Iar8130_publicationInfo {
  this: dcterms:created "2016-05-13T12:52:02+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" .
}