@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP554353.RAaX2A4tR-RaDZDAvHrc4C1pzt1nyKXzO07UpyN4k73Hs> .
@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:NP554353.RAaX2A4tR-RaDZDAvHrc4C1pzt1nyKXzO07UpyN4k73Hs130_head {
  this: np:hasAssertion dgn-np:NP554353.RAaX2A4tR-RaDZDAvHrc4C1pzt1nyKXzO07UpyN4k73Hs130_assertion;
    np:hasProvenance dgn-np:NP554353.RAaX2A4tR-RaDZDAvHrc4C1pzt1nyKXzO07UpyN4k73Hs130_provenance;
    np:hasPublicationInfo dgn-np:NP554353.RAaX2A4tR-RaDZDAvHrc4C1pzt1nyKXzO07UpyN4k73Hs130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP554353.RAaX2A4tR-RaDZDAvHrc4C1pzt1nyKXzO07UpyN4k73Hs130_assertion a np:Assertion .
  
  dgn-np:NP554353.RAaX2A4tR-RaDZDAvHrc4C1pzt1nyKXzO07UpyN4k73Hs130_provenance a np:Provenance .
  
  dgn-np:NP554353.RAaX2A4tR-RaDZDAvHrc4C1pzt1nyKXzO07UpyN4k73Hs130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP554353.RAaX2A4tR-RaDZDAvHrc4C1pzt1nyKXzO07UpyN4k73Hs130_assertion {
  miriam-gene:5827 a ncit:C16612 .
  
  lld:C0007959 a ncit:C7057 .
  
  dgn-gda:DGN850853fba4ad19d2a692446459d66955 sio:SIO_000628 miriam-gene:5827, lld:C0007959;
    a sio:SIO_001121 .
}

dgn-np:NP554353.RAaX2A4tR-RaDZDAvHrc4C1pzt1nyKXzO07UpyN4k73Hs130_provenance {
  dgn-np:NP554353.RAaX2A4tR-RaDZDAvHrc4C1pzt1nyKXzO07UpyN4k73Hs130_assertion dcterms:description
      "[Deafness in CMT patients is associated with point mutations or deletions in the transmembrane domain in the peripheral myelin gene (PMP) 22, which are in close proximity to the extracellular component of 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:16772060;
    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:NP554353.RAaX2A4tR-RaDZDAvHrc4C1pzt1nyKXzO07UpyN4k73Hs130_publicationInfo {
  this: dcterms:created "2016-05-13T12:45:56+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" .
}