@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP600481.RARt2CfsUGgYjJ0HEbKvCr3_vC3mJkdnFALwdtIUW8miU> .
@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/eco.owl#> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/2.0/> .
@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/nanopublications.trig#> .
@prefix dgn-gda: <http://rdf.disgenet.org/gene-disease-association.ttl#> .
@prefix dgn-void: <http://rdf.disgenet.org/v2.1.0/void.ttl#> .

dgn-np:NP600481.RARt2CfsUGgYjJ0HEbKvCr3_vC3mJkdnFALwdtIUW8miU130_head {
  this: np:hasAssertion dgn-np:NP600481.RARt2CfsUGgYjJ0HEbKvCr3_vC3mJkdnFALwdtIUW8miU130_assertion;
    np:hasProvenance dgn-np:NP600481.RARt2CfsUGgYjJ0HEbKvCr3_vC3mJkdnFALwdtIUW8miU130_provenance;
    np:hasPublicationInfo dgn-np:NP600481.RARt2CfsUGgYjJ0HEbKvCr3_vC3mJkdnFALwdtIUW8miU130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP600481.RARt2CfsUGgYjJ0HEbKvCr3_vC3mJkdnFALwdtIUW8miU130_assertion a np:Assertion .
  
  dgn-np:NP600481.RARt2CfsUGgYjJ0HEbKvCr3_vC3mJkdnFALwdtIUW8miU130_provenance a np:Provenance .
  
  dgn-np:NP600481.RARt2CfsUGgYjJ0HEbKvCr3_vC3mJkdnFALwdtIUW8miU130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP600481.RARt2CfsUGgYjJ0HEbKvCr3_vC3mJkdnFALwdtIUW8miU130_assertion {
  miriam-gene:100506164 a ncit:C16612 .
  
  lld:C0019069 a ncit:C7057 .
  
  dgn-gda:DGNd0381ed09e7d966b4efc500c2b838a08 sio:SIO_000628 miriam-gene:100506164,
      lld:C0019069;
    a sio:SIO_001121 .
}

dgn-np:NP600481.RARt2CfsUGgYjJ0HEbKvCr3_vC3mJkdnFALwdtIUW8miU130_provenance {
  dgn-np:NP600481.RARt2CfsUGgYjJ0HEbKvCr3_vC3mJkdnFALwdtIUW8miU130_assertion dcterms:description
      "[The copy number of several genes is affected by this rearrangement, with deletion of part of the Factor VIII gene (F8, causing hemophilia A) and the FUNDC2 gene, and duplication of the TMEM185A, HSFX1, MAGEA9, and MAGEA11 genes.]. 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:17683067;
    prov:wasDerivedFrom dgn-void:befree-20140225;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP600481.RARt2CfsUGgYjJ0HEbKvCr3_vC3mJkdnFALwdtIUW8miU130_publicationInfo {
  this: dcterms:created "2014-10-02T12:38:00+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:disgenetrdf;
    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 "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}