@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc> .
@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/eco.owl#> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/2.0/> .
@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/nanopublications.trig#> .
@prefix dgn-gda: <http://rdf.disgenet.org/gene-disease-association.ttl#> .
@prefix dgn-void: <http://rdf.disgenet.org/v2.1.0/void.ttl#> .

dgn-np:NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc130_head {
  this: np:hasAssertion dgn-np:NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc130_assertion;
    np:hasProvenance dgn-np:NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc130_provenance;
    np:hasPublicationInfo dgn-np:NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc130_assertion a np:Assertion .
  
  dgn-np:NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc130_provenance a np:Provenance .
  
  dgn-np:NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc130_assertion {
  miriam-gene:5376 a ncit:C16612 .
  
  lld:C0011195 a ncit:C7057 .
  
  dgn-gda:DGNe44d365462df393cdff6e038afd02d2a sio:SIO_000628 miriam-gene:5376, lld:C0011195;
    a sio:SIO_001121 .
}

dgn-np:NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc130_provenance {
  dgn-np:NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc130_assertion dcterms:description
      "[We screened 170 unrelated neuropathy patients without mutations involving the peripheral myelin protein 22 gene (PMP22), the myelin protein zero gene (MPZ), or the gap junction protein beta1 gene (GJB1) and identified two DSN patients with the heterozygous mutation R359W in the alpha-helix domain of the first zinc-finger of EGR2.]. 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:11523566;
    prov:wasDerivedFrom dgn-void:befree-20140225;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP253905.RA7ACdzEowL5J0-74KUlsQ7NGrymA5WRgMIzI1zB1Zcvc130_publicationInfo {
  this: dcterms:created "2014-10-02T12:34:22+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:disgenetrdf;
    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 "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}