@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP750069.RAlmXqZ1O50b4fyrExKEoj8VmezRwQTrhSKYBTGH6vHaY> .
@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:NP750069.RAlmXqZ1O50b4fyrExKEoj8VmezRwQTrhSKYBTGH6vHaY130_head {
  this: np:hasAssertion dgn-np:NP750069.RAlmXqZ1O50b4fyrExKEoj8VmezRwQTrhSKYBTGH6vHaY130_assertion;
    np:hasProvenance dgn-np:NP750069.RAlmXqZ1O50b4fyrExKEoj8VmezRwQTrhSKYBTGH6vHaY130_provenance;
    np:hasPublicationInfo dgn-np:NP750069.RAlmXqZ1O50b4fyrExKEoj8VmezRwQTrhSKYBTGH6vHaY130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP750069.RAlmXqZ1O50b4fyrExKEoj8VmezRwQTrhSKYBTGH6vHaY130_assertion a np:Assertion .
  
  dgn-np:NP750069.RAlmXqZ1O50b4fyrExKEoj8VmezRwQTrhSKYBTGH6vHaY130_provenance a np:Provenance .
  
  dgn-np:NP750069.RAlmXqZ1O50b4fyrExKEoj8VmezRwQTrhSKYBTGH6vHaY130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP750069.RAlmXqZ1O50b4fyrExKEoj8VmezRwQTrhSKYBTGH6vHaY130_assertion {
  miriam-gene:7157 a ncit:C16612 .
  
  lld:C0015625 a ncit:C7057 .
  
  dgn-gda:DGN803eb70abfc3962347336a9f474af535 sio:SIO_000628 miriam-gene:7157, lld:C0015625;
    a sio:SIO_001121 .
}

dgn-np:NP750069.RAlmXqZ1O50b4fyrExKEoj8VmezRwQTrhSKYBTGH6vHaY130_provenance {
  dgn-np:NP750069.RAlmXqZ1O50b4fyrExKEoj8VmezRwQTrhSKYBTGH6vHaY130_assertion dcterms:description
      "[Using targeted capture and massively parallel genomic sequencing, 151 subjects with USC were assessed for germline mutations in 30 tumor suppressor genes, including BRCA1 (breast cancer 1, early onset), BRCA2, the DNA mismatch repair genes (MLH1 [mutL homolog 1], MSH2 [mutS homolog 2], MSH6, PMS2 [postmeiotic segregation increased 2]), TP53 (tumor protein p53), and 10 other genes in the Fanconi anemia-BRCA pathway.]. 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:22811390;
    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:NP750069.RAlmXqZ1O50b4fyrExKEoj8VmezRwQTrhSKYBTGH6vHaY130_publicationInfo {
  this: dcterms:created "2015-08-25T14:45:12+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" .
}