@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP672958.RAG0JxAlAlFFfLt2_N2U86TNznBrW-M6AC7_OQaWYQKOY> .
@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:NP672958.RAG0JxAlAlFFfLt2_N2U86TNznBrW-M6AC7_OQaWYQKOY130_head {
  this: np:hasAssertion dgn-np:NP672958.RAG0JxAlAlFFfLt2_N2U86TNznBrW-M6AC7_OQaWYQKOY130_assertion;
    np:hasProvenance dgn-np:NP672958.RAG0JxAlAlFFfLt2_N2U86TNznBrW-M6AC7_OQaWYQKOY130_provenance;
    np:hasPublicationInfo dgn-np:NP672958.RAG0JxAlAlFFfLt2_N2U86TNznBrW-M6AC7_OQaWYQKOY130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP672958.RAG0JxAlAlFFfLt2_N2U86TNznBrW-M6AC7_OQaWYQKOY130_assertion a np:Assertion .
  
  dgn-np:NP672958.RAG0JxAlAlFFfLt2_N2U86TNznBrW-M6AC7_OQaWYQKOY130_provenance a np:Provenance .
  
  dgn-np:NP672958.RAG0JxAlAlFFfLt2_N2U86TNznBrW-M6AC7_OQaWYQKOY130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP672958.RAG0JxAlAlFFfLt2_N2U86TNznBrW-M6AC7_OQaWYQKOY130_assertion {
  miriam-gene:6041 a ncit:C16612 .
  
  lld:C0238339 a ncit:C7057 .
  
  dgn-gda:DGNa396240d45f962385deb8a1a96249e08 sio:SIO_000628 miriam-gene:6041, lld:C0238339;
    a sio:SIO_001121 .
}

dgn-np:NP672958.RAG0JxAlAlFFfLt2_N2U86TNznBrW-M6AC7_OQaWYQKOY130_provenance {
  dgn-np:NP672958.RAG0JxAlAlFFfLt2_N2U86TNznBrW-M6AC7_OQaWYQKOY130_assertion dcterms:description
      "[We conclude that, although RNASEL mutations do not explain disease segregation in Finnish families with HPC, the variants are enriched in families with HPC that include more than two affected members and may also be associated with the age at disease onset.]. 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:11941539;
    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:NP672958.RAG0JxAlAlFFfLt2_N2U86TNznBrW-M6AC7_OQaWYQKOY130_publicationInfo {
  this: dcterms:created "2015-08-25T14:44:24+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" .
}