@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1047763.RAqXpk1IW7LGqRYooRHPTW7WB6XRTPhBiaMF0-KtXNoCQ> .
@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:NP1047763.RAqXpk1IW7LGqRYooRHPTW7WB6XRTPhBiaMF0-KtXNoCQ130_head {
  this: np:hasAssertion dgn-np:NP1047763.RAqXpk1IW7LGqRYooRHPTW7WB6XRTPhBiaMF0-KtXNoCQ130_assertion;
    np:hasProvenance dgn-np:NP1047763.RAqXpk1IW7LGqRYooRHPTW7WB6XRTPhBiaMF0-KtXNoCQ130_provenance;
    np:hasPublicationInfo dgn-np:NP1047763.RAqXpk1IW7LGqRYooRHPTW7WB6XRTPhBiaMF0-KtXNoCQ130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1047763.RAqXpk1IW7LGqRYooRHPTW7WB6XRTPhBiaMF0-KtXNoCQ130_assertion a np:Assertion .
  
  dgn-np:NP1047763.RAqXpk1IW7LGqRYooRHPTW7WB6XRTPhBiaMF0-KtXNoCQ130_provenance a np:Provenance .
  
  dgn-np:NP1047763.RAqXpk1IW7LGqRYooRHPTW7WB6XRTPhBiaMF0-KtXNoCQ130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1047763.RAqXpk1IW7LGqRYooRHPTW7WB6XRTPhBiaMF0-KtXNoCQ130_assertion {
  miriam-gene:2332 a ncit:C16612 .
  
  lld:C3714756 a ncit:C7057 .
  
  dgn-gda:DGNeb306fd9a185d54cb97b2f340f55c7f7 sio:SIO_000628 miriam-gene:2332, lld:C3714756;
    a sio:SIO_001121 .
}

dgn-np:NP1047763.RAqXpk1IW7LGqRYooRHPTW7WB6XRTPhBiaMF0-KtXNoCQ130_provenance {
  dgn-np:NP1047763.RAqXpk1IW7LGqRYooRHPTW7WB6XRTPhBiaMF0-KtXNoCQ130_assertion dcterms:description
      "[Fragile X syndrome (FXS) is a common form of inherited intellectual disability caused by an expansion of CGG repeats located in the 5' untranslated region (UTR) of the FMR1 gene, which leads to hypermethylation and silencing of this locus.]. 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:23356558;
    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:NP1047763.RAqXpk1IW7LGqRYooRHPTW7WB6XRTPhBiaMF0-KtXNoCQ130_publicationInfo {
  this: dcterms:created "2016-05-13T12:49:41+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" .
}