@prefix dct: <http://purl.org/dc/terms/> .
@prefix orcid: <http://orcid.org/> .
@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP83319.RA1T9utq0uXPlZoP3JcCa6zr1Plp3jGWYITRP33Xw8Euc> .
@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 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:NP83319.RA1T9utq0uXPlZoP3JcCa6zr1Plp3jGWYITRP33Xw8Euc130_head {
  this: np:hasAssertion dgn-np:NP83319.RA1T9utq0uXPlZoP3JcCa6zr1Plp3jGWYITRP33Xw8Euc130_assertion;
    np:hasProvenance dgn-np:NP83319.RA1T9utq0uXPlZoP3JcCa6zr1Plp3jGWYITRP33Xw8Euc130_provenance;
    np:hasPublicationInfo dgn-np:NP83319.RA1T9utq0uXPlZoP3JcCa6zr1Plp3jGWYITRP33Xw8Euc130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP83319.RA1T9utq0uXPlZoP3JcCa6zr1Plp3jGWYITRP33Xw8Euc130_assertion a np:Assertion .
  
  dgn-np:NP83319.RA1T9utq0uXPlZoP3JcCa6zr1Plp3jGWYITRP33Xw8Euc130_provenance a np:Provenance .
  
  dgn-np:NP83319.RA1T9utq0uXPlZoP3JcCa6zr1Plp3jGWYITRP33Xw8Euc130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP83319.RA1T9utq0uXPlZoP3JcCa6zr1Plp3jGWYITRP33Xw8Euc130_assertion {
  miriam-gene:8398 a ncit:C16612 .
  
  lld:C0030567 a ncit:C7057 .
  
  dgn-gda:DGN5877f224a4cef84c9215b67e711fb2a3 sio:SIO_000628 miriam-gene:8398, lld:C0030567;
    a sio:SIO_001122 .
}

dgn-np:NP83319.RA1T9utq0uXPlZoP3JcCa6zr1Plp3jGWYITRP33Xw8Euc130_provenance {
  dgn-np:NP83319.RA1T9utq0uXPlZoP3JcCa6zr1Plp3jGWYITRP33Xw8Euc130_assertion dct:description
      "[Although the clinical presentation of PLA2G6-associated neurodegeneration was reported to be homogeneous, our findings suggest patients with PLA2G6 mutation could show heterogeneous phenotype such as dystonia-parkinsonism, dementia, frontotemporal atrophy/hypoperfusion, with or without brain iron accumulation. Based on the clinical heterogeneity, the functional roles of PLA2G6 and the roles of PLA2G6 variants including single heterozygous mutations should be further elucidated in patients with atypical parkinsonism, dementia, or Parkinson disease. PLA2G6 mutations should be considered in patients with early-onset l-dopa-responsive parkinsonism and dementia with frontotemporal lobar atrophy.]. 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:20938027;
    prov:wasDerivedFrom dgn-void:gad-20130706;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:gad-20130706 pav:importedOn "2013-07-06"^^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:NP83319.RA1T9utq0uXPlZoP3JcCa6zr1Plp3jGWYITRP33Xw8Euc130_publicationInfo {
  this: dct:created "2014-10-02T12:32:41+02:00"^^xsd:dateTime;
    dct:rights <http://opendatacommons.org/licenses/odbl/1.0/>;
    dct:rightsHolder dgn-void:IBIGroup;
    dct:subject sio:SIO_000983;
    prv:usedData dgn-void:disgenetrdf;
    pav:authoredBy orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X,
      orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654;
    pav:createdBy orcid:0000-0003-0169-8159;
    pav:version "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}