@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1319452.RAhUM-3osPh_HtZtaJpMt9fnrYIXK0gdQDKmMNRXu83VQ> .
@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:NP1319452.RAhUM-3osPh_HtZtaJpMt9fnrYIXK0gdQDKmMNRXu83VQ130_head {
  this: np:hasAssertion dgn-np:NP1319452.RAhUM-3osPh_HtZtaJpMt9fnrYIXK0gdQDKmMNRXu83VQ130_assertion;
    np:hasProvenance dgn-np:NP1319452.RAhUM-3osPh_HtZtaJpMt9fnrYIXK0gdQDKmMNRXu83VQ130_provenance;
    np:hasPublicationInfo dgn-np:NP1319452.RAhUM-3osPh_HtZtaJpMt9fnrYIXK0gdQDKmMNRXu83VQ130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1319452.RAhUM-3osPh_HtZtaJpMt9fnrYIXK0gdQDKmMNRXu83VQ130_assertion a np:Assertion .
  
  dgn-np:NP1319452.RAhUM-3osPh_HtZtaJpMt9fnrYIXK0gdQDKmMNRXu83VQ130_provenance a np:Provenance .
  
  dgn-np:NP1319452.RAhUM-3osPh_HtZtaJpMt9fnrYIXK0gdQDKmMNRXu83VQ130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1319452.RAhUM-3osPh_HtZtaJpMt9fnrYIXK0gdQDKmMNRXu83VQ130_assertion {
  miriam-gene:215 a ncit:C16612 .
  
  lld:C0162309 a ncit:C7057 .
  
  dgn-gda:DGNdb07800ade9746f8d4674aafba9125af sio:SIO_000628 miriam-gene:215, lld:C0162309;
    a sio:SIO_001121 .
}

dgn-np:NP1319452.RAhUM-3osPh_HtZtaJpMt9fnrYIXK0gdQDKmMNRXu83VQ130_provenance {
  dgn-np:NP1319452.RAhUM-3osPh_HtZtaJpMt9fnrYIXK0gdQDKmMNRXu83VQ130_assertion dcterms:description
      "[The disruptive nature of two mutations (i.e., the frameshift and the nonsense mutation) in patients with biochemically proved childhood ALD and AMN further strongly supports the hypothesis that alterations in this gene play a crucial role in the pathogenesis of X-ALD.]. 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:7717396;
    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:NP1319452.RAhUM-3osPh_HtZtaJpMt9fnrYIXK0gdQDKmMNRXu83VQ130_publicationInfo {
  this: dcterms:created "2016-05-13T12:51:44+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" .
}