@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP255259.RAd6FBVydu0mLDlLMIdFBllCBZXPex_enUDCdWPWZY6Bo> .
@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:NP255259.RAd6FBVydu0mLDlLMIdFBllCBZXPex_enUDCdWPWZY6Bo130_head {
  this: np:hasAssertion dgn-np:NP255259.RAd6FBVydu0mLDlLMIdFBllCBZXPex_enUDCdWPWZY6Bo130_assertion;
    np:hasProvenance dgn-np:NP255259.RAd6FBVydu0mLDlLMIdFBllCBZXPex_enUDCdWPWZY6Bo130_provenance;
    np:hasPublicationInfo dgn-np:NP255259.RAd6FBVydu0mLDlLMIdFBllCBZXPex_enUDCdWPWZY6Bo130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP255259.RAd6FBVydu0mLDlLMIdFBllCBZXPex_enUDCdWPWZY6Bo130_assertion a np:Assertion .
  
  dgn-np:NP255259.RAd6FBVydu0mLDlLMIdFBllCBZXPex_enUDCdWPWZY6Bo130_provenance a np:Provenance .
  
  dgn-np:NP255259.RAd6FBVydu0mLDlLMIdFBllCBZXPex_enUDCdWPWZY6Bo130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP255259.RAd6FBVydu0mLDlLMIdFBllCBZXPex_enUDCdWPWZY6Bo130_assertion {
  miriam-gene:5376 a ncit:C16612 .
  
  lld:C0011195 a ncit:C7057 .
  
  dgn-gda:DGN167a9c4a5f4519b62f2e9f18496a00ab sio:SIO_000628 miriam-gene:5376, lld:C0011195;
    a sio:SIO_001121 .
}

dgn-np:NP255259.RAd6FBVydu0mLDlLMIdFBllCBZXPex_enUDCdWPWZY6Bo130_provenance {
  dgn-np:NP255259.RAd6FBVydu0mLDlLMIdFBllCBZXPex_enUDCdWPWZY6Bo130_assertion dcterms:description
      "[However, several dominant heterozygous mutations in the peripheral myelin protein 22 (PMP22) gene and dominant mutations in the peripheral myelin protein zero (MPZ) gene, both in the heterozygous and homozygous state, have been reported in patients with DSS.]. 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:10371530;
    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:NP255259.RAd6FBVydu0mLDlLMIdFBllCBZXPex_enUDCdWPWZY6Bo130_publicationInfo {
  this: dcterms:created "2016-05-13T12:43:41+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" .
}