@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP245308.RAUbvzb0NhkCxjAeIEd92S_KRyUsPyLDJTsL0koi2PJsw> .
@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:NP245308.RAUbvzb0NhkCxjAeIEd92S_KRyUsPyLDJTsL0koi2PJsw130_head {
  this: np:hasAssertion dgn-np:NP245308.RAUbvzb0NhkCxjAeIEd92S_KRyUsPyLDJTsL0koi2PJsw130_assertion;
    np:hasProvenance dgn-np:NP245308.RAUbvzb0NhkCxjAeIEd92S_KRyUsPyLDJTsL0koi2PJsw130_provenance;
    np:hasPublicationInfo dgn-np:NP245308.RAUbvzb0NhkCxjAeIEd92S_KRyUsPyLDJTsL0koi2PJsw130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP245308.RAUbvzb0NhkCxjAeIEd92S_KRyUsPyLDJTsL0koi2PJsw130_assertion a np:Assertion .
  
  dgn-np:NP245308.RAUbvzb0NhkCxjAeIEd92S_KRyUsPyLDJTsL0koi2PJsw130_provenance a np:Provenance .
  
  dgn-np:NP245308.RAUbvzb0NhkCxjAeIEd92S_KRyUsPyLDJTsL0koi2PJsw130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP245308.RAUbvzb0NhkCxjAeIEd92S_KRyUsPyLDJTsL0koi2PJsw130_assertion {
  miriam-gene:4976 a ncit:C16612 .
  
  lld:C0338508 a ncit:C7057 .
  
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    a sio:SIO_001122 .
}

dgn-np:NP245308.RAUbvzb0NhkCxjAeIEd92S_KRyUsPyLDJTsL0koi2PJsw130_provenance {
  dgn-np:NP245308.RAUbvzb0NhkCxjAeIEd92S_KRyUsPyLDJTsL0koi2PJsw130_assertion dcterms:description
      "[Our findings show that gross genomic aberrations at the OPA1 gene locus are frequent in Autosomal dominant optic atrophy and substantially contribute to the spectrum and prevalence of OPA1 mutations in ADOA patients ]. 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:19181907;
    prov:wasDerivedFrom dgn-void:lhgdn-20090331;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:lhgdn-20090331 pav:importedOn "2009-03-31"^^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:NP245308.RAUbvzb0NhkCxjAeIEd92S_KRyUsPyLDJTsL0koi2PJsw130_publicationInfo {
  this: dcterms:created "2016-05-13T12:43:37+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>,
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    pav:createdBy <http://orcid.org/0000-0003-0169-8159>;
    pav:version "v4.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}