@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1106665.RAi9orY2v6SzfupkxlJekOdYLRw8Wnm57TjXMXQjOjBWM> .
@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:NP1106665.RAi9orY2v6SzfupkxlJekOdYLRw8Wnm57TjXMXQjOjBWM130_head {
  this: np:hasAssertion dgn-np:NP1106665.RAi9orY2v6SzfupkxlJekOdYLRw8Wnm57TjXMXQjOjBWM130_assertion;
    np:hasProvenance dgn-np:NP1106665.RAi9orY2v6SzfupkxlJekOdYLRw8Wnm57TjXMXQjOjBWM130_provenance;
    np:hasPublicationInfo dgn-np:NP1106665.RAi9orY2v6SzfupkxlJekOdYLRw8Wnm57TjXMXQjOjBWM130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1106665.RAi9orY2v6SzfupkxlJekOdYLRw8Wnm57TjXMXQjOjBWM130_assertion a np:Assertion .
  
  dgn-np:NP1106665.RAi9orY2v6SzfupkxlJekOdYLRw8Wnm57TjXMXQjOjBWM130_provenance a np:Provenance .
  
  dgn-np:NP1106665.RAi9orY2v6SzfupkxlJekOdYLRw8Wnm57TjXMXQjOjBWM130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1106665.RAi9orY2v6SzfupkxlJekOdYLRw8Wnm57TjXMXQjOjBWM130_assertion {
  miriam-gene:4036 a ncit:C16612 .
  
  lld:C0266617 a ncit:C7057 .
  
  dgn-gda:DGNaf2ad690e741dcb5b8080bcf79e16045 sio:SIO_000628 miriam-gene:4036, lld:C0266617;
    a sio:SIO_001121 .
}

dgn-np:NP1106665.RAi9orY2v6SzfupkxlJekOdYLRw8Wnm57TjXMXQjOjBWM130_provenance {
  dgn-np:NP1106665.RAi9orY2v6SzfupkxlJekOdYLRw8Wnm57TjXMXQjOjBWM130_assertion dcterms:description
      "[Mutations in LRP2 have been shown to cause the Donnai-Barrow syndrome (DBS) or facio-oculo-acoustico-renal (FOAR) syndrome, a syndrome associated with facial dysmorphism, ocular anomalies, sensorineural hearing loss, low molecular weight proteinuria, and diaphragmatic hernia and absent corpus callosum, although there is variability in the expression of some features.]. 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:23992033;
    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:NP1106665.RAi9orY2v6SzfupkxlJekOdYLRw8Wnm57TjXMXQjOjBWM130_publicationInfo {
  this: dcterms:created "2016-05-13T12:50:07+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" .
}