@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP981823.RAPtypSClqc7LF9ju5WltVS36U9XWTJGwrZdR2zsMrnPA> .
@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:NP981823.RAPtypSClqc7LF9ju5WltVS36U9XWTJGwrZdR2zsMrnPA130_head {
  this: np:hasAssertion dgn-np:NP981823.RAPtypSClqc7LF9ju5WltVS36U9XWTJGwrZdR2zsMrnPA130_assertion;
    np:hasProvenance dgn-np:NP981823.RAPtypSClqc7LF9ju5WltVS36U9XWTJGwrZdR2zsMrnPA130_provenance;
    np:hasPublicationInfo dgn-np:NP981823.RAPtypSClqc7LF9ju5WltVS36U9XWTJGwrZdR2zsMrnPA130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP981823.RAPtypSClqc7LF9ju5WltVS36U9XWTJGwrZdR2zsMrnPA130_assertion a np:Assertion .
  
  dgn-np:NP981823.RAPtypSClqc7LF9ju5WltVS36U9XWTJGwrZdR2zsMrnPA130_provenance a np:Provenance .
  
  dgn-np:NP981823.RAPtypSClqc7LF9ju5WltVS36U9XWTJGwrZdR2zsMrnPA130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP981823.RAPtypSClqc7LF9ju5WltVS36U9XWTJGwrZdR2zsMrnPA130_assertion {
  miriam-gene:5076 a ncit:C16612 .
  
  lld:C1852759 a ncit:C7057 .
  
  dgn-gda:DGN03912f61c57954d01cf1f13f1f0c66b8 sio:SIO_000628 miriam-gene:5076, lld:C1852759;
    a sio:SIO_001121 .
}

dgn-np:NP981823.RAPtypSClqc7LF9ju5WltVS36U9XWTJGwrZdR2zsMrnPA130_provenance {
  dgn-np:NP981823.RAPtypSClqc7LF9ju5WltVS36U9XWTJGwrZdR2zsMrnPA130_assertion dcterms:description
      "[This finding provided the molecular confirmation of the patient's clinical diagnosis and showed that, in addition to point mutations, deletions of the PAX2 gene contribute to the etiology of the renal-coloboma 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:22581475;
    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:NP981823.RAPtypSClqc7LF9ju5WltVS36U9XWTJGwrZdR2zsMrnPA130_publicationInfo {
  this: dcterms:created "2016-05-13T12:49:10+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" .
}