@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP118472.RApYI6jsRXtceUrolFKJD6ESExAzBe8AwELnN29_BpOQE> .
@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/v3.0.0/void/> .

dgn-np:NP118472.RApYI6jsRXtceUrolFKJD6ESExAzBe8AwELnN29_BpOQE130_head {
  this: np:hasAssertion dgn-np:NP118472.RApYI6jsRXtceUrolFKJD6ESExAzBe8AwELnN29_BpOQE130_assertion;
    np:hasProvenance dgn-np:NP118472.RApYI6jsRXtceUrolFKJD6ESExAzBe8AwELnN29_BpOQE130_provenance;
    np:hasPublicationInfo dgn-np:NP118472.RApYI6jsRXtceUrolFKJD6ESExAzBe8AwELnN29_BpOQE130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP118472.RApYI6jsRXtceUrolFKJD6ESExAzBe8AwELnN29_BpOQE130_assertion a np:Assertion .
  
  dgn-np:NP118472.RApYI6jsRXtceUrolFKJD6ESExAzBe8AwELnN29_BpOQE130_provenance a np:Provenance .
  
  dgn-np:NP118472.RApYI6jsRXtceUrolFKJD6ESExAzBe8AwELnN29_BpOQE130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP118472.RApYI6jsRXtceUrolFKJD6ESExAzBe8AwELnN29_BpOQE130_assertion {
  miriam-gene:57338 a ncit:C16612 .
  
  lld:C0007761 a ncit:C7057 .
  
  dgn-gda:DGN3a1fdcdfb855ceefb64f1148174fcb97 sio:SIO_000628 miriam-gene:57338, lld:C0007761;
    a sio:SIO_001122 .
}

dgn-np:NP118472.RApYI6jsRXtceUrolFKJD6ESExAzBe8AwELnN29_BpOQE130_provenance {
  dgn-np:NP118472.RApYI6jsRXtceUrolFKJD6ESExAzBe8AwELnN29_BpOQE130_assertion dcterms:description
      "[The study on 244 patients referred with the clinical diagnosis of HD and without mutation of the IT15 gene revealed one case of SCA17 but did not disclose the presence of two other diseases with a similar clinical manifestation: DRPLA and HDL2.]. 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:18651325;
    prov:wasDerivedFrom dgn-void:gad-20150221;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:gad-20150221 pav:importedOn "2015-02-21"^^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:NP118472.RApYI6jsRXtceUrolFKJD6ESExAzBe8AwELnN29_BpOQE130_publicationInfo {
  this: dcterms:created "2015-08-25T14:38:46+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 "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}