@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1014532.RAdRVEVG1rgZSu4lbnUrYbi_smcbtcQ4-BEx_KmOkLhmI> .
@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/v3.0.0/void/> .

dgn-np:NP1014532.RAdRVEVG1rgZSu4lbnUrYbi_smcbtcQ4-BEx_KmOkLhmI130_head {
  this: np:hasAssertion dgn-np:NP1014532.RAdRVEVG1rgZSu4lbnUrYbi_smcbtcQ4-BEx_KmOkLhmI130_assertion;
    np:hasProvenance dgn-np:NP1014532.RAdRVEVG1rgZSu4lbnUrYbi_smcbtcQ4-BEx_KmOkLhmI130_provenance;
    np:hasPublicationInfo dgn-np:NP1014532.RAdRVEVG1rgZSu4lbnUrYbi_smcbtcQ4-BEx_KmOkLhmI130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1014532.RAdRVEVG1rgZSu4lbnUrYbi_smcbtcQ4-BEx_KmOkLhmI130_assertion a np:Assertion .
  
  dgn-np:NP1014532.RAdRVEVG1rgZSu4lbnUrYbi_smcbtcQ4-BEx_KmOkLhmI130_provenance a np:Provenance .
  
  dgn-np:NP1014532.RAdRVEVG1rgZSu4lbnUrYbi_smcbtcQ4-BEx_KmOkLhmI130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1014532.RAdRVEVG1rgZSu4lbnUrYbi_smcbtcQ4-BEx_KmOkLhmI130_assertion {
  miriam-gene:100506195 a ncit:C16612 .
  
  lld:C0270911 a ncit:C7057 .
  
  dgn-gda:DGN4fc6dc40a34d89a92c777967a9fed054 sio:SIO_000628 miriam-gene:100506195,
      lld:C0270911;
    a sio:SIO_001121 .
}

dgn-np:NP1014532.RAdRVEVG1rgZSu4lbnUrYbi_smcbtcQ4-BEx_KmOkLhmI130_provenance {
  dgn-np:NP1014532.RAdRVEVG1rgZSu4lbnUrYbi_smcbtcQ4-BEx_KmOkLhmI130_assertion dcterms:description
      "[Charcot-Marie-Tooth disease type 1A (CMT1A) or hereditary motor and sensory neuropathy type Ia (HMSN type Ia) is an autosomal dominant demyelinating polyneuropathy, which may result from duplications as large as 1.5 Mb on chromosome 17p 11.2-p12 encompassing the gene for the peripheral myelin protein PMP22, or from point mutations in this gene.]. 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:8615087;
    prov:wasDerivedFrom dgn-void:befree-20150227;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP1014532.RAdRVEVG1rgZSu4lbnUrYbi_smcbtcQ4-BEx_KmOkLhmI130_publicationInfo {
  this: dcterms:created "2015-08-25T14:48:09+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 "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}