@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP834402.RAn9mdl1u9iMQxM_OsSi4JVz2APkB8BT-0420P9G3eh4M> .
@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:NP834402.RAn9mdl1u9iMQxM_OsSi4JVz2APkB8BT-0420P9G3eh4M130_head {
  this: np:hasAssertion dgn-np:NP834402.RAn9mdl1u9iMQxM_OsSi4JVz2APkB8BT-0420P9G3eh4M130_assertion;
    np:hasProvenance dgn-np:NP834402.RAn9mdl1u9iMQxM_OsSi4JVz2APkB8BT-0420P9G3eh4M130_provenance;
    np:hasPublicationInfo dgn-np:NP834402.RAn9mdl1u9iMQxM_OsSi4JVz2APkB8BT-0420P9G3eh4M130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP834402.RAn9mdl1u9iMQxM_OsSi4JVz2APkB8BT-0420P9G3eh4M130_assertion a np:Assertion .
  
  dgn-np:NP834402.RAn9mdl1u9iMQxM_OsSi4JVz2APkB8BT-0420P9G3eh4M130_provenance a np:Provenance .
  
  dgn-np:NP834402.RAn9mdl1u9iMQxM_OsSi4JVz2APkB8BT-0420P9G3eh4M130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP834402.RAn9mdl1u9iMQxM_OsSi4JVz2APkB8BT-0420P9G3eh4M130_assertion {
  miriam-gene:10002 a ncit:C16612 .
  
  lld:C0339462 a ncit:C7057 .
  
  dgn-gda:DGN9f06e03dbd5ddbc640cccf3c3c877bba sio:SIO_000628 miriam-gene:10002, lld:C0339462;
    a sio:SIO_001122 .
}

dgn-np:NP834402.RAn9mdl1u9iMQxM_OsSi4JVz2APkB8BT-0420P9G3eh4M130_provenance {
  dgn-np:NP834402.RAn9mdl1u9iMQxM_OsSi4JVz2APkB8BT-0420P9G3eh4M130_assertion dcterms:description
      "[patient: A 48-year old Jewish Italian male with clinically, functionally, and molecularly confirmed ESCS, attributable to homozygosity for the R311Q mutation in the NR2E3 gene, presented with sudden visual acuity (VA) loss (20/200) and metamorphopsia in the left eye resulting from acute, late-onset, asymmetric macular RS.]. 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:18835469;
    prov:wasDerivedFrom dgn-void:befree-20150227;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP834402.RAn9mdl1u9iMQxM_OsSi4JVz2APkB8BT-0420P9G3eh4M130_publicationInfo {
  this: dcterms:created "2015-08-25T14:46:06+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" .
}