@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP386477.RAvU2rqiFgiFqe9W-r3au59oW5xTeABjPBlRxckiqbypk> .
@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:NP386477.RAvU2rqiFgiFqe9W-r3au59oW5xTeABjPBlRxckiqbypk130_head {
  this: np:hasAssertion dgn-np:NP386477.RAvU2rqiFgiFqe9W-r3au59oW5xTeABjPBlRxckiqbypk130_assertion;
    np:hasProvenance dgn-np:NP386477.RAvU2rqiFgiFqe9W-r3au59oW5xTeABjPBlRxckiqbypk130_provenance;
    np:hasPublicationInfo dgn-np:NP386477.RAvU2rqiFgiFqe9W-r3au59oW5xTeABjPBlRxckiqbypk130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP386477.RAvU2rqiFgiFqe9W-r3au59oW5xTeABjPBlRxckiqbypk130_assertion a np:Assertion .
  
  dgn-np:NP386477.RAvU2rqiFgiFqe9W-r3au59oW5xTeABjPBlRxckiqbypk130_provenance a np:Provenance .
  
  dgn-np:NP386477.RAvU2rqiFgiFqe9W-r3au59oW5xTeABjPBlRxckiqbypk130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP386477.RAvU2rqiFgiFqe9W-r3au59oW5xTeABjPBlRxckiqbypk130_assertion {
  miriam-gene:2114 a ncit:C16612 .
  
  lld:C0010068 a ncit:C7057 .
  
  dgn-gda:DGN2c0bf931b09d6a2f25925d32ece1a506 sio:SIO_000628 miriam-gene:2114, lld:C0010068;
    a sio:SIO_001121 .
}

dgn-np:NP386477.RAvU2rqiFgiFqe9W-r3au59oW5xTeABjPBlRxckiqbypk130_provenance {
  dgn-np:NP386477.RAvU2rqiFgiFqe9W-r3au59oW5xTeABjPBlRxckiqbypk130_assertion dcterms:description
      "[The major current concept for the pathogenesis of the Down Syndrome (DS) phenotype including congenital heart disease (CHD) is the so-called 'gene dosage effect.' According to this hypothesis, genes encoded by chromosome 21 at the 'critical region' (which is thought to be crucial for the development of the DS phenotype) are overexpressed in the trisomic state, thus leading to an imbalance of genes as, e.g., the protooncogene ets-2, superoxide dismutase, etc.]. 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:9918849;
    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:NP386477.RAvU2rqiFgiFqe9W-r3au59oW5xTeABjPBlRxckiqbypk130_publicationInfo {
  this: dcterms:created "2015-08-25T14:41:23+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" .
}