@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP363953.RAsEZ4HYZnLA0oVve8OXxLAFXY6zbrZyQn32mWr0uur9E> .
@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:NP363953.RAsEZ4HYZnLA0oVve8OXxLAFXY6zbrZyQn32mWr0uur9E130_head {
  this: np:hasAssertion dgn-np:NP363953.RAsEZ4HYZnLA0oVve8OXxLAFXY6zbrZyQn32mWr0uur9E130_assertion;
    np:hasProvenance dgn-np:NP363953.RAsEZ4HYZnLA0oVve8OXxLAFXY6zbrZyQn32mWr0uur9E130_provenance;
    np:hasPublicationInfo dgn-np:NP363953.RAsEZ4HYZnLA0oVve8OXxLAFXY6zbrZyQn32mWr0uur9E130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP363953.RAsEZ4HYZnLA0oVve8OXxLAFXY6zbrZyQn32mWr0uur9E130_assertion a np:Assertion .
  
  dgn-np:NP363953.RAsEZ4HYZnLA0oVve8OXxLAFXY6zbrZyQn32mWr0uur9E130_provenance a np:Provenance .
  
  dgn-np:NP363953.RAsEZ4HYZnLA0oVve8OXxLAFXY6zbrZyQn32mWr0uur9E130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP363953.RAsEZ4HYZnLA0oVve8OXxLAFXY6zbrZyQn32mWr0uur9E130_assertion {
  miriam-gene:80184 a ncit:C16612 .
  
  lld:C0431399 a ncit:C7057 .
  
  dgn-gda:DGNa402977714972497b08338301a2fb0f4 sio:SIO_000628 miriam-gene:80184, lld:C0431399;
    a sio:SIO_001121 .
}

dgn-np:NP363953.RAsEZ4HYZnLA0oVve8OXxLAFXY6zbrZyQn32mWr0uur9E130_provenance {
  dgn-np:NP363953.RAsEZ4HYZnLA0oVve8OXxLAFXY6zbrZyQn32mWr0uur9E130_assertion dcterms:description
      "[Mutations in the gene centrosomal protein 290 kDa (CEP290) cause an array of debilitating and phenotypically distinct human diseases, ranging from the devastating blinding disease Leber congenital amaurosis (LCA) to Senior-Løken syndrome, Joubert syndrome, and the lethal Meckel-Gruber syndrome.]. 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:24051377;
    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:NP363953.RAsEZ4HYZnLA0oVve8OXxLAFXY6zbrZyQn32mWr0uur9E130_publicationInfo {
  this: dcterms:created "2014-10-02T12:35:33+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" .
}