@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP480150.RA6R2zmrCK6GScwYgCF4BPhG2jScQxf88W7aUbs1_SEns> .
@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:NP480150.RA6R2zmrCK6GScwYgCF4BPhG2jScQxf88W7aUbs1_SEns130_head {
  this: np:hasAssertion dgn-np:NP480150.RA6R2zmrCK6GScwYgCF4BPhG2jScQxf88W7aUbs1_SEns130_assertion;
    np:hasProvenance dgn-np:NP480150.RA6R2zmrCK6GScwYgCF4BPhG2jScQxf88W7aUbs1_SEns130_provenance;
    np:hasPublicationInfo dgn-np:NP480150.RA6R2zmrCK6GScwYgCF4BPhG2jScQxf88W7aUbs1_SEns130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP480150.RA6R2zmrCK6GScwYgCF4BPhG2jScQxf88W7aUbs1_SEns130_assertion a np:Assertion .
  
  dgn-np:NP480150.RA6R2zmrCK6GScwYgCF4BPhG2jScQxf88W7aUbs1_SEns130_provenance a np:Provenance .
  
  dgn-np:NP480150.RA6R2zmrCK6GScwYgCF4BPhG2jScQxf88W7aUbs1_SEns130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP480150.RA6R2zmrCK6GScwYgCF4BPhG2jScQxf88W7aUbs1_SEns130_assertion {
  miriam-gene:6609 a ncit:C16612 .
  
  lld:C0268243 a ncit:C7057 .
  
  dgn-gda:DGNc5dd44094291a68fa5ee46164368e1a0 sio:SIO_000628 miriam-gene:6609, lld:C0268243;
    a sio:SIO_001122 .
}

dgn-np:NP480150.RA6R2zmrCK6GScwYgCF4BPhG2jScQxf88W7aUbs1_SEns130_provenance {
  dgn-np:NP480150.RA6R2zmrCK6GScwYgCF4BPhG2jScQxf88W7aUbs1_SEns130_assertion dcterms:description
      "[Given the similarity of the storage cells in NPD and Gaucher disease, we studied Gaucher plasma markers (chitotriosidase and CCL18) in two siblings homozygous for the R228C mutation in acid sphingomyelinase (ASM) and a type B course of NPD.]. 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:15702402;
    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:NP480150.RA6R2zmrCK6GScwYgCF4BPhG2jScQxf88W7aUbs1_SEns130_publicationInfo {
  this: dcterms:created "2016-05-13T12:45:22+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" .
}