@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP233259.RADgvcggjXJN-nuwepvvPFPK5SSjVNqphOURRPViPN0EM> .
@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:NP233259.RADgvcggjXJN-nuwepvvPFPK5SSjVNqphOURRPViPN0EM130_head {
  this: np:hasAssertion dgn-np:NP233259.RADgvcggjXJN-nuwepvvPFPK5SSjVNqphOURRPViPN0EM130_assertion;
    np:hasProvenance dgn-np:NP233259.RADgvcggjXJN-nuwepvvPFPK5SSjVNqphOURRPViPN0EM130_provenance;
    np:hasPublicationInfo dgn-np:NP233259.RADgvcggjXJN-nuwepvvPFPK5SSjVNqphOURRPViPN0EM130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP233259.RADgvcggjXJN-nuwepvvPFPK5SSjVNqphOURRPViPN0EM130_assertion a np:Assertion .
  
  dgn-np:NP233259.RADgvcggjXJN-nuwepvvPFPK5SSjVNqphOURRPViPN0EM130_provenance a np:Provenance .
  
  dgn-np:NP233259.RADgvcggjXJN-nuwepvvPFPK5SSjVNqphOURRPViPN0EM130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP233259.RADgvcggjXJN-nuwepvvPFPK5SSjVNqphOURRPViPN0EM130_assertion {
  miriam-gene:3251 a ncit:C16612 .
  
  lld:C0019247 a ncit:C7057 .
  
  dgn-gda:DGN52e85cf9e65c1067ac069a55f3f3cd52 sio:SIO_000628 miriam-gene:3251, lld:C0019247;
    a sio:SIO_001121 .
}

dgn-np:NP233259.RADgvcggjXJN-nuwepvvPFPK5SSjVNqphOURRPViPN0EM130_provenance {
  dgn-np:NP233259.RADgvcggjXJN-nuwepvvPFPK5SSjVNqphOURRPViPN0EM130_assertion dcterms:description
      "[Lesch-Nyhan disease (LND) is an X-linked genetic disorder caused by mutations of the hypoxanthine guanine phosphoribosyltransferase (HPRT) purine biosynthesis gene and characterized by aberrant purine metabolism, deficient basal ganglia dopamine levels, dystonia, and severe neurobehavioral manifestations, including compulsive self-injurious behavior.]. 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:22331909;
    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:NP233259.RADgvcggjXJN-nuwepvvPFPK5SSjVNqphOURRPViPN0EM130_publicationInfo {
  this: dcterms:created "2014-10-02T12:34:10+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" .
}