@prefix orcid: <http://orcid.org/> .
@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP255553.RAmfYdNLZci_GbBYsZEcK8QYlutgED-w-_vBYrDVxecWo> .
@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:NP255553.RAmfYdNLZci_GbBYsZEcK8QYlutgED-w-_vBYrDVxecWo130_head {
  this: np:hasAssertion dgn-np:NP255553.RAmfYdNLZci_GbBYsZEcK8QYlutgED-w-_vBYrDVxecWo130_assertion;
    np:hasProvenance dgn-np:NP255553.RAmfYdNLZci_GbBYsZEcK8QYlutgED-w-_vBYrDVxecWo130_provenance;
    np:hasPublicationInfo dgn-np:NP255553.RAmfYdNLZci_GbBYsZEcK8QYlutgED-w-_vBYrDVxecWo130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP255553.RAmfYdNLZci_GbBYsZEcK8QYlutgED-w-_vBYrDVxecWo130_assertion a np:Assertion .
  
  dgn-np:NP255553.RAmfYdNLZci_GbBYsZEcK8QYlutgED-w-_vBYrDVxecWo130_provenance a np:Provenance .
  
  dgn-np:NP255553.RAmfYdNLZci_GbBYsZEcK8QYlutgED-w-_vBYrDVxecWo130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP255553.RAmfYdNLZci_GbBYsZEcK8QYlutgED-w-_vBYrDVxecWo130_assertion {
  miriam-gene:472 a ncit:C16612 .
  
  lld:C0346153 a ncit:C7057 .
  
  dgn-gda:DGNf0d7a3892a7a0878270d37a2eedbd4b1 sio:SIO_000628 miriam-gene:472, lld:C0346153;
    a sio:SIO_001121 .
}

dgn-np:NP255553.RAmfYdNLZci_GbBYsZEcK8QYlutgED-w-_vBYrDVxecWo130_provenance {
  dgn-np:NP255553.RAmfYdNLZci_GbBYsZEcK8QYlutgED-w-_vBYrDVxecWo130_assertion dcterms:description
      "[After excluding BRCA1 and BRCA2 mutations, factors proposed to contribute to familial breast cancer include: chance clustering of apparently sporadic cases, shared lifestyle, monogenic inheritance, i.e., dominant gene mutations associated with a high risk (TP53, PTEN, STK11), dominant gene mutations associated with a relatively low risk (ATM, BRIP1, RLB2), recessive gene mutations associated with horizontal inheritance patterns (sister-sister), and polygenic inheritance where susceptibility to familial breast cancer is thought to be conferred by a large number of low risk alleles.]. 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:24306927;
    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:NP255553.RAmfYdNLZci_GbBYsZEcK8QYlutgED-w-_vBYrDVxecWo130_publicationInfo {
  this: dcterms:created "2015-08-25T14:40:05+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 orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X,
      orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654;
    pav:createdBy orcid:0000-0003-0169-8159;
    pav:version "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}