@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP726570.RAVrgRmIXYuQsp9Ig8CdX9nLj34TY9cgdihYrd5bi956g> .
@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:NP726570.RAVrgRmIXYuQsp9Ig8CdX9nLj34TY9cgdihYrd5bi956g130_head {
  this: np:hasAssertion dgn-np:NP726570.RAVrgRmIXYuQsp9Ig8CdX9nLj34TY9cgdihYrd5bi956g130_assertion;
    np:hasProvenance dgn-np:NP726570.RAVrgRmIXYuQsp9Ig8CdX9nLj34TY9cgdihYrd5bi956g130_provenance;
    np:hasPublicationInfo dgn-np:NP726570.RAVrgRmIXYuQsp9Ig8CdX9nLj34TY9cgdihYrd5bi956g130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP726570.RAVrgRmIXYuQsp9Ig8CdX9nLj34TY9cgdihYrd5bi956g130_assertion a np:Assertion .
  
  dgn-np:NP726570.RAVrgRmIXYuQsp9Ig8CdX9nLj34TY9cgdihYrd5bi956g130_provenance a np:Provenance .
  
  dgn-np:NP726570.RAVrgRmIXYuQsp9Ig8CdX9nLj34TY9cgdihYrd5bi956g130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP726570.RAVrgRmIXYuQsp9Ig8CdX9nLj34TY9cgdihYrd5bi956g130_assertion {
  miriam-gene:546 a ncit:C16612 .
  
  lld:C1136249 a ncit:C7057 .
  
  dgn-gda:DGNc35d9507c94837d2f2a294db2eb5240c sio:SIO_000628 miriam-gene:546, lld:C1136249;
    a sio:SIO_001121 .
}

dgn-np:NP726570.RAVrgRmIXYuQsp9Ig8CdX9nLj34TY9cgdihYrd5bi956g130_provenance {
  dgn-np:NP726570.RAVrgRmIXYuQsp9Ig8CdX9nLj34TY9cgdihYrd5bi956g130_assertion dcterms:description
      "[Detailed comparison of the clinical characteristics and the function of the genes located in the commonly duplicated regions of these patients led us to the hypothesis that an increased dosage of ATRX and perhaps of other genes is involved in the pathogenetic mechanism of this XLMR phenotype, including mental retardation, short stature, and genital abnormalities comprising cryptorchidism and/or a small penis.]. 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:19291773;
    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:NP726570.RAVrgRmIXYuQsp9Ig8CdX9nLj34TY9cgdihYrd5bi956g130_publicationInfo {
  this: dcterms:created "2016-05-13T12:47:14+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" .
}