@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1292206.RAvEcW-n5NI9WDVoXuE6ZKj6Djfh18y_7Cso7rK5w9LzY> .
@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:NP1292206.RAvEcW-n5NI9WDVoXuE6ZKj6Djfh18y_7Cso7rK5w9LzY130_head {
  this: np:hasAssertion dgn-np:NP1292206.RAvEcW-n5NI9WDVoXuE6ZKj6Djfh18y_7Cso7rK5w9LzY130_assertion;
    np:hasProvenance dgn-np:NP1292206.RAvEcW-n5NI9WDVoXuE6ZKj6Djfh18y_7Cso7rK5w9LzY130_provenance;
    np:hasPublicationInfo dgn-np:NP1292206.RAvEcW-n5NI9WDVoXuE6ZKj6Djfh18y_7Cso7rK5w9LzY130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1292206.RAvEcW-n5NI9WDVoXuE6ZKj6Djfh18y_7Cso7rK5w9LzY130_assertion a np:Assertion .
  
  dgn-np:NP1292206.RAvEcW-n5NI9WDVoXuE6ZKj6Djfh18y_7Cso7rK5w9LzY130_provenance a np:Provenance .
  
  dgn-np:NP1292206.RAvEcW-n5NI9WDVoXuE6ZKj6Djfh18y_7Cso7rK5w9LzY130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1292206.RAvEcW-n5NI9WDVoXuE6ZKj6Djfh18y_7Cso7rK5w9LzY130_assertion {
  miriam-gene:169792 a ncit:C16612 .
  
  lld:C0267963 a ncit:C7057 .
  
  dgn-gda:DGNefacb088146250998992847daa8278c6 sio:SIO_000628 miriam-gene:169792, lld:C0267963;
    a sio:SIO_001121 .
}

dgn-np:NP1292206.RAvEcW-n5NI9WDVoXuE6ZKj6Djfh18y_7Cso7rK5w9LzY130_provenance {
  dgn-np:NP1292206.RAvEcW-n5NI9WDVoXuE6ZKj6Djfh18y_7Cso7rK5w9LzY130_assertion dcterms:description
      "[We describe new presenting features in patients with GLIS3 mutations, including craniosynostosis, hiatus hernia, atrial septal defect, splenic cyst, and choanal atresia and confirm further cases with sensorineural deafness and exocrine pancreatic insufficiency.]. 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:26259131;
    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:NP1292206.RAvEcW-n5NI9WDVoXuE6ZKj6Djfh18y_7Cso7rK5w9LzY130_publicationInfo {
  this: dcterms:created "2016-05-13T12:51:31+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" .
}