@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP640447.RAqjXdOFtPvfOosGTYF6EojdW4ey5fGoUcUHaUkFbTm_Q> .
@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:NP640447.RAqjXdOFtPvfOosGTYF6EojdW4ey5fGoUcUHaUkFbTm_Q130_head {
  this: np:hasAssertion dgn-np:NP640447.RAqjXdOFtPvfOosGTYF6EojdW4ey5fGoUcUHaUkFbTm_Q130_assertion;
    np:hasProvenance dgn-np:NP640447.RAqjXdOFtPvfOosGTYF6EojdW4ey5fGoUcUHaUkFbTm_Q130_provenance;
    np:hasPublicationInfo dgn-np:NP640447.RAqjXdOFtPvfOosGTYF6EojdW4ey5fGoUcUHaUkFbTm_Q130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP640447.RAqjXdOFtPvfOosGTYF6EojdW4ey5fGoUcUHaUkFbTm_Q130_assertion a np:Assertion .
  
  dgn-np:NP640447.RAqjXdOFtPvfOosGTYF6EojdW4ey5fGoUcUHaUkFbTm_Q130_provenance a np:Provenance .
  
  dgn-np:NP640447.RAqjXdOFtPvfOosGTYF6EojdW4ey5fGoUcUHaUkFbTm_Q130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP640447.RAqjXdOFtPvfOosGTYF6EojdW4ey5fGoUcUHaUkFbTm_Q130_assertion {
  miriam-gene:7015 a ncit:C16612 .
  
  lld:C0265965 a ncit:C7057 .
  
  dgn-gda:DGNb1d8142a5e2fc2a71a353ea915341904 sio:SIO_000628 miriam-gene:7015, lld:C0265965;
    a sio:SIO_001121 .
}

dgn-np:NP640447.RAqjXdOFtPvfOosGTYF6EojdW4ey5fGoUcUHaUkFbTm_Q130_provenance {
  dgn-np:NP640447.RAqjXdOFtPvfOosGTYF6EojdW4ey5fGoUcUHaUkFbTm_Q130_assertion dcterms:description
      "[Three genetic subtypes are recognized: X-linked recessive DC bears mutations in DKC1, the gene encoding dyskerin, a component of H/ACA small nucleolar ribonucleoprotein particles; autosomal dominant (AD) DC has heterozygous mutations in either TERC or TERT, the RNA and enzymatic components of telomerase, respectively, and autosomal recessive DC in which the genes involved remain largely elusive.]. 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:18005359;
    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:NP640447.RAqjXdOFtPvfOosGTYF6EojdW4ey5fGoUcUHaUkFbTm_Q130_publicationInfo {
  this: dcterms:created "2016-05-13T12:46:35+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" .
}