@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1040149.RAIn8v5pvQdaFdXAGkz0qNJBCXdwAApX7dnJ1Y37aP86o> .
@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:NP1040149.RAIn8v5pvQdaFdXAGkz0qNJBCXdwAApX7dnJ1Y37aP86o130_head {
  this: np:hasAssertion dgn-np:NP1040149.RAIn8v5pvQdaFdXAGkz0qNJBCXdwAApX7dnJ1Y37aP86o130_assertion;
    np:hasProvenance dgn-np:NP1040149.RAIn8v5pvQdaFdXAGkz0qNJBCXdwAApX7dnJ1Y37aP86o130_provenance;
    np:hasPublicationInfo dgn-np:NP1040149.RAIn8v5pvQdaFdXAGkz0qNJBCXdwAApX7dnJ1Y37aP86o130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1040149.RAIn8v5pvQdaFdXAGkz0qNJBCXdwAApX7dnJ1Y37aP86o130_assertion a np:Assertion .
  
  dgn-np:NP1040149.RAIn8v5pvQdaFdXAGkz0qNJBCXdwAApX7dnJ1Y37aP86o130_provenance a np:Provenance .
  
  dgn-np:NP1040149.RAIn8v5pvQdaFdXAGkz0qNJBCXdwAApX7dnJ1Y37aP86o130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1040149.RAIn8v5pvQdaFdXAGkz0qNJBCXdwAApX7dnJ1Y37aP86o130_assertion {
  miriam-gene:6559 a ncit:C16612 .
  
  lld:C0019569 a ncit:C7057 .
  
  dgn-gda:DGNab8e38abaa8591b15a1386eec064044e sio:SIO_000628 miriam-gene:6559, lld:C0019569;
    a sio:SIO_001121 .
}

dgn-np:NP1040149.RAIn8v5pvQdaFdXAGkz0qNJBCXdwAApX7dnJ1Y37aP86o130_provenance {
  dgn-np:NP1040149.RAIn8v5pvQdaFdXAGkz0qNJBCXdwAApX7dnJ1Y37aP86o130_assertion dcterms:description
      "[Taken together with the opposing effects of Pax3 and Tcof1 on NCC differentiation, the synergistic haploinsufficiency of Tcof1 and Pax3 results in colonic aganglionosis in mice and may contribute to the pathogenesis of Hirschsprung disease.]. 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:23283078;
    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:NP1040149.RAIn8v5pvQdaFdXAGkz0qNJBCXdwAApX7dnJ1Y37aP86o130_publicationInfo {
  this: dcterms:created "2016-05-13T12:49:37+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" .
}