@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1205879.RAPIP8MKLdANNvKMsJ72qVxRl_noT55X_gKtTS2Mk7LCk> .
@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:NP1205879.RAPIP8MKLdANNvKMsJ72qVxRl_noT55X_gKtTS2Mk7LCk130_head {
  this: np:hasAssertion dgn-np:NP1205879.RAPIP8MKLdANNvKMsJ72qVxRl_noT55X_gKtTS2Mk7LCk130_assertion;
    np:hasProvenance dgn-np:NP1205879.RAPIP8MKLdANNvKMsJ72qVxRl_noT55X_gKtTS2Mk7LCk130_provenance;
    np:hasPublicationInfo dgn-np:NP1205879.RAPIP8MKLdANNvKMsJ72qVxRl_noT55X_gKtTS2Mk7LCk130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1205879.RAPIP8MKLdANNvKMsJ72qVxRl_noT55X_gKtTS2Mk7LCk130_assertion a np:Assertion .
  
  dgn-np:NP1205879.RAPIP8MKLdANNvKMsJ72qVxRl_noT55X_gKtTS2Mk7LCk130_provenance a np:Provenance .
  
  dgn-np:NP1205879.RAPIP8MKLdANNvKMsJ72qVxRl_noT55X_gKtTS2Mk7LCk130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1205879.RAPIP8MKLdANNvKMsJ72qVxRl_noT55X_gKtTS2Mk7LCk130_assertion {
  miriam-gene:2175 a ncit:C16612 .
  
  lld:C3469521 a ncit:C7057 .
  
  dgn-gda:DGNcc7f90c92eeded1bb8c24b4af5050fac sio:SIO_000628 miriam-gene:2175, lld:C3469521;
    a sio:SIO_001121 .
}

dgn-np:NP1205879.RAPIP8MKLdANNvKMsJ72qVxRl_noT55X_gKtTS2Mk7LCk130_provenance {
  dgn-np:NP1205879.RAPIP8MKLdANNvKMsJ72qVxRl_noT55X_gKtTS2Mk7LCk130_assertion dcterms:description
      "[Mutations in 16 genes (FANCA, B, C, D1, D2, E, F, G, I, J, L, M, N, O, P, and Q) have been identified in patients, with the Fanconi anemia subtype J (FA-J) resulting from homozygous mutations in the FANCJ gene.]. 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:25070891;
    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:NP1205879.RAPIP8MKLdANNvKMsJ72qVxRl_noT55X_gKtTS2Mk7LCk130_publicationInfo {
  this: dcterms:created "2016-05-13T12:50:52+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" .
}