@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP824093.RAybC9OQuqkYASAe15TLpnOWxdXdrTjrgM9_2cYBr2PQ8> .
@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:NP824093.RAybC9OQuqkYASAe15TLpnOWxdXdrTjrgM9_2cYBr2PQ8130_head {
  this: np:hasAssertion dgn-np:NP824093.RAybC9OQuqkYASAe15TLpnOWxdXdrTjrgM9_2cYBr2PQ8130_assertion;
    np:hasProvenance dgn-np:NP824093.RAybC9OQuqkYASAe15TLpnOWxdXdrTjrgM9_2cYBr2PQ8130_provenance;
    np:hasPublicationInfo dgn-np:NP824093.RAybC9OQuqkYASAe15TLpnOWxdXdrTjrgM9_2cYBr2PQ8130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP824093.RAybC9OQuqkYASAe15TLpnOWxdXdrTjrgM9_2cYBr2PQ8130_assertion a np:Assertion .
  
  dgn-np:NP824093.RAybC9OQuqkYASAe15TLpnOWxdXdrTjrgM9_2cYBr2PQ8130_provenance a np:Provenance .
  
  dgn-np:NP824093.RAybC9OQuqkYASAe15TLpnOWxdXdrTjrgM9_2cYBr2PQ8130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP824093.RAybC9OQuqkYASAe15TLpnOWxdXdrTjrgM9_2cYBr2PQ8130_assertion {
  miriam-gene:2705 a ncit:C16612 .
  
  lld:C0007959 a ncit:C7057 .
  
  dgn-gda:DGNe1a898250535e81a228d2b710cb9d96f sio:SIO_000628 miriam-gene:2705, lld:C0007959;
    a sio:SIO_001121 .
}

dgn-np:NP824093.RAybC9OQuqkYASAe15TLpnOWxdXdrTjrgM9_2cYBr2PQ8130_provenance {
  dgn-np:NP824093.RAybC9OQuqkYASAe15TLpnOWxdXdrTjrgM9_2cYBr2PQ8130_assertion dcterms:description
      "[The X-linked form of Charcot Marie Tooth disease (CMT1X) is caused by numerous mutations in the GJB1 gene encoding the gap junction protein connexin32 (Cx32), which is expressed in both Schwann cells in the PNS and oligodendrocytes in the CNS.]. 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:20607661;
    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:NP824093.RAybC9OQuqkYASAe15TLpnOWxdXdrTjrgM9_2cYBr2PQ8130_publicationInfo {
  this: dcterms:created "2016-05-13T12:47:58+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" .
}