@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1087165.RAkR7aa4HT35JsDC9fJtmcsHJf_jR7DrNN0ACPcIuAzAI> .
@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:NP1087165.RAkR7aa4HT35JsDC9fJtmcsHJf_jR7DrNN0ACPcIuAzAI130_head {
  this: np:hasAssertion dgn-np:NP1087165.RAkR7aa4HT35JsDC9fJtmcsHJf_jR7DrNN0ACPcIuAzAI130_assertion;
    np:hasProvenance dgn-np:NP1087165.RAkR7aa4HT35JsDC9fJtmcsHJf_jR7DrNN0ACPcIuAzAI130_provenance;
    np:hasPublicationInfo dgn-np:NP1087165.RAkR7aa4HT35JsDC9fJtmcsHJf_jR7DrNN0ACPcIuAzAI130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1087165.RAkR7aa4HT35JsDC9fJtmcsHJf_jR7DrNN0ACPcIuAzAI130_assertion a np:Assertion .
  
  dgn-np:NP1087165.RAkR7aa4HT35JsDC9fJtmcsHJf_jR7DrNN0ACPcIuAzAI130_provenance a np:Provenance .
  
  dgn-np:NP1087165.RAkR7aa4HT35JsDC9fJtmcsHJf_jR7DrNN0ACPcIuAzAI130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1087165.RAkR7aa4HT35JsDC9fJtmcsHJf_jR7DrNN0ACPcIuAzAI130_assertion {
  miriam-gene:2176 a ncit:C16612 .
  
  lld:C3469521 a ncit:C7057 .
  
  dgn-gda:DGNdd46d9f38b58f47123e5aa830e75b843 sio:SIO_000628 miriam-gene:2176, lld:C3469521;
    a sio:SIO_001121 .
}

dgn-np:NP1087165.RAkR7aa4HT35JsDC9fJtmcsHJf_jR7DrNN0ACPcIuAzAI130_provenance {
  dgn-np:NP1087165.RAkR7aa4HT35JsDC9fJtmcsHJf_jR7DrNN0ACPcIuAzAI130_assertion dcterms:description
      "[Mutations in BRCA genes cannot account for all cases of HBOC, indicating that the remaining cases can be attributed to the involvement of constitutive epimutations or other cancer susceptibility genes, which include Fanconi anemia (FA) cluster (FANCD2, FANCA and FANCC), mismatch repair (MMR) cluster (MLH1, MSH2, PMS1, PMS2 and MSH6), DNA repair cluster (ATM, ATR and CHK1/2), and tumor suppressor cluster (TP53, SKT11 and PTEN).]. 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:23779253;
    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:NP1087165.RAkR7aa4HT35JsDC9fJtmcsHJf_jR7DrNN0ACPcIuAzAI130_publicationInfo {
  this: dcterms:created "2016-05-13T12:49:59+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" .
}