@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP256404.RArj7xkYFcZ-Ww6N1boqVcMp-1eAhHoQ4iWGVvEG6ktog> .
@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:NP256404.RArj7xkYFcZ-Ww6N1boqVcMp-1eAhHoQ4iWGVvEG6ktog130_head {
  this: np:hasAssertion dgn-np:NP256404.RArj7xkYFcZ-Ww6N1boqVcMp-1eAhHoQ4iWGVvEG6ktog130_assertion;
    np:hasProvenance dgn-np:NP256404.RArj7xkYFcZ-Ww6N1boqVcMp-1eAhHoQ4iWGVvEG6ktog130_provenance;
    np:hasPublicationInfo dgn-np:NP256404.RArj7xkYFcZ-Ww6N1boqVcMp-1eAhHoQ4iWGVvEG6ktog130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP256404.RArj7xkYFcZ-Ww6N1boqVcMp-1eAhHoQ4iWGVvEG6ktog130_assertion a np:Assertion .
  
  dgn-np:NP256404.RArj7xkYFcZ-Ww6N1boqVcMp-1eAhHoQ4iWGVvEG6ktog130_provenance a np:Provenance .
  
  dgn-np:NP256404.RArj7xkYFcZ-Ww6N1boqVcMp-1eAhHoQ4iWGVvEG6ktog130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP256404.RArj7xkYFcZ-Ww6N1boqVcMp-1eAhHoQ4iWGVvEG6ktog130_assertion {
  miriam-gene:5053 a ncit:C16612 .
  
  lld:C0751435 a ncit:C7057 .
  
  dgn-gda:DGNd027a7c94774776b482fb701967552f8 sio:SIO_000628 miriam-gene:5053, lld:C0751435;
    a sio:SIO_001121 .
}

dgn-np:NP256404.RArj7xkYFcZ-Ww6N1boqVcMp-1eAhHoQ4iWGVvEG6ktog130_provenance {
  dgn-np:NP256404.RArj7xkYFcZ-Ww6N1boqVcMp-1eAhHoQ4iWGVvEG6ktog130_assertion dcterms:description
      "[Phenylketonuria (PKU) is a classic 'monogenic' autosomal recessive disease in which mutation at the human PAH locus was deemed sufficient to explain the impaired function of the enzyme phenylalanine hydroxylase (enzymic phenotype), the attendant hyperphenylalaninemia (metabolic phenotype) and the resultant mental retardation (cognitive phenotype).]. 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:10390625;
    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:NP256404.RArj7xkYFcZ-Ww6N1boqVcMp-1eAhHoQ4iWGVvEG6ktog130_publicationInfo {
  this: dcterms:created "2016-05-13T12:43:42+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" .
}