@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP157503.RAhsVSw7-gQ3fhn0_gOmtSATBrRI9oVskHrehTYiw8dsg> .
@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:NP157503.RAhsVSw7-gQ3fhn0_gOmtSATBrRI9oVskHrehTYiw8dsg130_head {
  this: np:hasAssertion dgn-np:NP157503.RAhsVSw7-gQ3fhn0_gOmtSATBrRI9oVskHrehTYiw8dsg130_assertion;
    np:hasProvenance dgn-np:NP157503.RAhsVSw7-gQ3fhn0_gOmtSATBrRI9oVskHrehTYiw8dsg130_provenance;
    np:hasPublicationInfo dgn-np:NP157503.RAhsVSw7-gQ3fhn0_gOmtSATBrRI9oVskHrehTYiw8dsg130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP157503.RAhsVSw7-gQ3fhn0_gOmtSATBrRI9oVskHrehTYiw8dsg130_assertion a np:Assertion .
  
  dgn-np:NP157503.RAhsVSw7-gQ3fhn0_gOmtSATBrRI9oVskHrehTYiw8dsg130_provenance a np:Provenance .
  
  dgn-np:NP157503.RAhsVSw7-gQ3fhn0_gOmtSATBrRI9oVskHrehTYiw8dsg130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP157503.RAhsVSw7-gQ3fhn0_gOmtSATBrRI9oVskHrehTYiw8dsg130_assertion {
  miriam-gene:80184 a ncit:C16612 .
  
  lld:C0035304 a ncit:C7057 .
  
  dgn-gda:DGN43c66eb3320b912207635c5c857b7667 sio:SIO_000628 miriam-gene:80184, lld:C0035304;
    a sio:SIO_001121 .
}

dgn-np:NP157503.RAhsVSw7-gQ3fhn0_gOmtSATBrRI9oVskHrehTYiw8dsg130_provenance {
  dgn-np:NP157503.RAhsVSw7-gQ3fhn0_gOmtSATBrRI9oVskHrehTYiw8dsg130_assertion dcterms:description
      "[This disease mechanism of reduced expression for a syndromic ciliopathy gene causing isolated retinal degeneration is reminiscent of CEP290 intronic mutations that cause Leber congenital amaurosis, and we speculate that reduced dosage of correctly spliced ciliopathy genes may be a common disease mechanism in retinal degenerations.]. 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:22619378;
    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:NP157503.RAhsVSw7-gQ3fhn0_gOmtSATBrRI9oVskHrehTYiw8dsg130_publicationInfo {
  this: dcterms:created "2014-10-02T12:33:25+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" .
}