@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY> .
@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:NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_head {
  this: np:hasAssertion dgn-np:NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_assertion;
    np:hasProvenance dgn-np:NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_provenance;
    np:hasPublicationInfo dgn-np:NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_assertion a np:Assertion .
  
  dgn-np:NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_provenance a np:Provenance .
  
  dgn-np:NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_assertion {
  miriam-gene:7466 a ncit:C16612 .
  
  lld:C0029124 a ncit:C7057 .
  
  dgn-gda:DGN54a7ae92a3621ff5593d228f688f86cb sio:SIO_000628 miriam-gene:7466, lld:C0029124;
    a sio:SIO_001121 .
}

dgn-np:NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_provenance {
  dgn-np:NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_assertion dcterms:description
      "[Mutations in the WFS1 gene, at 4p16.3, are associated with either optic atrophy (OA) as part of the autosomal recessive Wolfram syndrome or with autosomal dominant progressive low frequency sensorineural hearing loss (LFSNHL) without any ophthalmological abnormalities.]. 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:16648378;
    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:NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_publicationInfo {
  this: dcterms:created "2014-10-02T12:36:55+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" .
}