@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1289933.RAEHMii7ObUKSusVf23aiOAPbnndrSa8OTCuZ5Or-Vl6E> .
@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:NP1289933.RAEHMii7ObUKSusVf23aiOAPbnndrSa8OTCuZ5Or-Vl6E130_head {
  this: np:hasAssertion dgn-np:NP1289933.RAEHMii7ObUKSusVf23aiOAPbnndrSa8OTCuZ5Or-Vl6E130_assertion;
    np:hasProvenance dgn-np:NP1289933.RAEHMii7ObUKSusVf23aiOAPbnndrSa8OTCuZ5Or-Vl6E130_provenance;
    np:hasPublicationInfo dgn-np:NP1289933.RAEHMii7ObUKSusVf23aiOAPbnndrSa8OTCuZ5Or-Vl6E130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1289933.RAEHMii7ObUKSusVf23aiOAPbnndrSa8OTCuZ5Or-Vl6E130_assertion a np:Assertion .
  
  dgn-np:NP1289933.RAEHMii7ObUKSusVf23aiOAPbnndrSa8OTCuZ5Or-Vl6E130_provenance a np:Provenance .
  
  dgn-np:NP1289933.RAEHMii7ObUKSusVf23aiOAPbnndrSa8OTCuZ5Or-Vl6E130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1289933.RAEHMii7ObUKSusVf23aiOAPbnndrSa8OTCuZ5Or-Vl6E130_assertion {
  miriam-gene:755 a ncit:C16612 .
  
  lld:C0265275 a ncit:C7057 .
  
  dgn-gda:DGNb027e89005cdf6af8bff6bc8d0bf09ef sio:SIO_000628 miriam-gene:755, lld:C0265275;
    a sio:SIO_001121 .
}

dgn-np:NP1289933.RAEHMii7ObUKSusVf23aiOAPbnndrSa8OTCuZ5Or-Vl6E130_provenance {
  dgn-np:NP1289933.RAEHMii7ObUKSusVf23aiOAPbnndrSa8OTCuZ5Or-Vl6E130_assertion dcterms:description
      "[Combining the screen with exome sequencing data identified recessive mutations in PIBF1, also known as CEP90, and C21orf2, also known as LRRC76, as causes of the ciliopathies Joubert and Jeune syndromes.]. 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:26167768;
    prov:wasDerivedFrom dgn-void:befree-2016;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP1289933.RAEHMii7ObUKSusVf23aiOAPbnndrSa8OTCuZ5Or-Vl6E130_publicationInfo {
  this: dcterms:created "2016-05-13T12:51:30+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 "v4.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}