@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP378863.RAYl5sEN6moyhduHMISrW7a3P_R9bYpSAG74afFOLx85A> .
@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:NP378863.RAYl5sEN6moyhduHMISrW7a3P_R9bYpSAG74afFOLx85A130_head {
  this: np:hasAssertion dgn-np:NP378863.RAYl5sEN6moyhduHMISrW7a3P_R9bYpSAG74afFOLx85A130_assertion;
    np:hasProvenance dgn-np:NP378863.RAYl5sEN6moyhduHMISrW7a3P_R9bYpSAG74afFOLx85A130_provenance;
    np:hasPublicationInfo dgn-np:NP378863.RAYl5sEN6moyhduHMISrW7a3P_R9bYpSAG74afFOLx85A130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP378863.RAYl5sEN6moyhduHMISrW7a3P_R9bYpSAG74afFOLx85A130_assertion a np:Assertion .
  
  dgn-np:NP378863.RAYl5sEN6moyhduHMISrW7a3P_R9bYpSAG74afFOLx85A130_provenance a np:Provenance .
  
  dgn-np:NP378863.RAYl5sEN6moyhduHMISrW7a3P_R9bYpSAG74afFOLx85A130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP378863.RAYl5sEN6moyhduHMISrW7a3P_R9bYpSAG74afFOLx85A130_assertion {
  miriam-gene:6469 a ncit:C16612 .
  
  lld:C0079541 a ncit:C7057 .
  
  dgn-gda:DGN49b9e8a15759c1ac0f1e7aa51c5db4fc sio:SIO_000628 miriam-gene:6469, lld:C0079541;
    a sio:SIO_001121 .
}

dgn-np:NP378863.RAYl5sEN6moyhduHMISrW7a3P_R9bYpSAG74afFOLx85A130_provenance {
  dgn-np:NP378863.RAYl5sEN6moyhduHMISrW7a3P_R9bYpSAG74afFOLx85A130_assertion dcterms:description
      "[From experimental data that upstream expression of sonic hedgehog (SHH) controls Pax2 expression in mice and zebrafish, and from clinical experience that colobomas are observed frequently in patients with holoprosencephaly, we hypothesized that SHH could be a candidate for non-syndromic ocular colobomas (NSOC).]. 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:12503095;
    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:NP378863.RAYl5sEN6moyhduHMISrW7a3P_R9bYpSAG74afFOLx85A130_publicationInfo {
  this: dcterms:created "2016-05-13T12:44:37+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" .
}