@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw> .
@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/v3.0.0/void/> .

dgn-np:NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw130_head {
  this: np:hasAssertion dgn-np:NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw130_assertion;
    np:hasProvenance dgn-np:NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw130_provenance;
    np:hasPublicationInfo dgn-np:NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw130_assertion a np:Assertion .
  
  dgn-np:NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw130_provenance a np:Provenance .
  
  dgn-np:NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw130_assertion {
  miriam-gene:5080 a ncit:C16612 .
  
  lld:C0004352 a ncit:C7057 .
  
  dgn-gda:DGN0e8a6e09129d932d14d22ede0c202b9e sio:SIO_000628 miriam-gene:5080, lld:C0004352;
    a sio:SIO_001121 .
}

dgn-np:NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw130_provenance {
  dgn-np:NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw130_assertion dcterms:description
      "[Thus, the unique genotype identified in this study suggested that haploinsufficiencies of PAX6 or PRRG4 included in this region are candidate genes for severe developmental delay and autistic features characteristic of WAGR 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:24357251;
    prov:wasDerivedFrom dgn-void:befree-20150227;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw130_publicationInfo {
  this: dcterms:created "2015-08-25T14:43:45+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 "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}